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	94970312	C C	CTCTCTCT others(9): Show CTCTCTCTCTTTCTCTT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01106.hp2 HG01169.hp1 others(15): Show HG01071.hp1 HG01106.hp2 HG01169.hp1 HG01243.hp1 HG02148.hp1 HG02698.hp2 HG02886.hp1 HG02965.hp1 HG03041.hp1 HG03453.hp2 HG03704.hp1 HG04115.hp1 HG06807.hp1 NA18522.hp2 NA18942.hp2 NA18992.hp1 NA19060.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0012 a0001c0001t0016 a0001c0001t0017 a0001c0001t0025 a0001c0001t0027 a0001c0001t0035 a0001c0001t0050 a0001c0002t0021	a0001c0001t0001g0174 a0001c0001t0001g0188 a0001c0001t0002g0138 others(15): Show a0001c0001t0001g0174 a0001c0001t0001g0188 a0001c0001t0002g0138 a0001c0001t0002g0156 a0001c0001t0002g0210 a0001c0001t0004g0003 a0001c0001t0005g0022 a0001c0001t0006g0177 a0001c0001t0007g0061 a0001c0001t0009g0179 a0001c0001t0012g0166 a0001c0001t0016g0200 a0001c0001t0017g0039 a0001c0001t0025g0074 a0001c0001t0027g0082 a0001c0001t0035g0198 a0001c0001t0050g0020 a0001c0002t0021g0014	18	226	0.0797	16	c.-11 others(37): Show c.-112-25723_-112-25722insCTCTTTCTCTTTCTCT	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMPR1B_chr4_94752955_95163448	94981003	A A	ACGCGCGC others(9): Show ACGCGCGCGTACGCGCG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00323.hp2 others(124): Show HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00558.hp1 HG00558.hp2 HG00642.hp1 HG00735.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01099.hp2 HG01106.hp2 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01496.hp2 HG01884.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02132.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02895.hp1 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02976.hp1 HG03041.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG04115.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18988.hp1 NA18988.hp2 NA18992.hp1 NA18992.hp2 NA19000.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19012.hp1 NA19030.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19070.hp1 NA19070.hp2 NA19090.hp1 NA20300.hp1 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0005 a0001c0001 a0001c0002 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(33): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0022 a0001c0001t0024 a0001c0001t0025 a0001c0001t0027 a0001c0001t0030 a0001c0001t0032 a0001c0001t0038 a0001c0001t0041 a0001c0001t0043 a0001c0001t0047 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0054 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0002t0021 a0004c0005t0034	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0048 others(124): Show a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0048 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0072 a0001c0001t0001g0076 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0116 a0001c0001t0001g0120 a0001c0001t0001g0139 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0167 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0182 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0002g0009 a0001c0001t0002g0042 a0001c0001t0002g0044 a0001c0001t0002g0062 a0001c0001t0002g0068 a0001c0001t0002g0077 a0001c0001t0002g0079 a0001c0001t0002g0092 a0001c0001t0002g0138 a0001c0001t0002g0144 a0001c0001t0002g0156 a0001c0001t0002g0161 a0001c0001t0002g0169 a0001c0001t0002g0183 a0001c0001t0002g0210 a0001c0001t0002g0224 a0001c0001t0003g0107 a0001c0001t0004g0003 a0001c0001t0004g0045 a0001c0001t0004g0054 a0001c0001t0004g0063 a0001c0001t0004g0078 a0001c0001t0004g0089 a0001c0001t0004g0090 a0001c0001t0004g0091 a0001c0001t0004g0094 a0001c0001t0004g0104 a0001c0001t0004g0112 a0001c0001t0004g0113 a0001c0001t0004g0149 a0001c0001t0004g0150 a0001c0001t0004g0211 a0001c0001t0005g0022 a0001c0001t0005g0056 a0001c0001t0005g0073 a0001c0001t0005g0096 a0001c0001t0005g0132 a0001c0001t0005g0151 a0001c0001t0005g0162 a0001c0001t0005g0168 a0001c0001t0006g0005 a0001c0001t0006g0010 a0001c0001t0006g0049 a0001c0001t0006g0075 a0001c0001t0006g0115 a0001c0001t0006g0160 a0001c0001t0006g0170 a0001c0001t0006g0177 a0001c0001t0006g0181 a0001c0001t0007g0019 a0001c0001t0007g0114 a0001c0001t0008g0041 a0001c0001t0008g0207 a0001c0001t0008g0209 a0001c0001t0009g0179 a0001c0001t0010g0018 a0001c0001t0010g0192 a0001c0001t0010g0208 a0001c0001t0010g0213 a0001c0001t0011g0191 a0001c0001t0012g0166 a0001c0001t0013g0015 a0001c0001t0013g0016 a0001c0001t0013g0202 a0001c0001t0017g0039 a0001c0001t0017g0206 a0001c0001t0018g0030 a0001c0001t0018g0055 a0001c0001t0019g0109 a0001c0001t0022g0052 a0001c0001t0022g0108 a0001c0001t0024g0133 a0001c0001t0025g0074 a0001c0001t0027g0082 a0001c0001t0030g0141 a0001c0001t0032g0175 a0001c0001t0038g0051 a0001c0001t0041g0118 a0001c0001t0043g0193 a0001c0001t0047g0001 a0001c0001t0050g0020 a0001c0001t0051g0135 a0001c0001t0052g0196 a0001c0001t0054g0093 a0001c0001t0056g0053 a0001c0001t0057g0008 a0001c0001t0058g0184 a0001c0001t0059g0124 a0001c0002t0021g0014 a0004c0005t0034g0140	127	226	0.5620	16	c.-11 others(37): Show c.-112-15036_-112-15035insGCGCGCGTACGCGCGC	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMPR1B_chr4_94752955_95163448	95026098	A A	ATTTCTTT others(9): Show ATTTCTTTCTTTCCTTC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00639.hp2 HG01099.hp2 others(15): Show HG00280.hp2 HG00639.hp2 HG01099.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01952.hp2 HG02257.hp1 HG02738.hp1 HG02895.hp1 HG02897.hp1 HG03834.hp1 HG03834.hp2 NA18612.hp2 NA19056.hp1 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0022 a0001c0001t0048 a0001c0001t0054	a0001c0001t0001g0097 a0001c0001t0001g0214 a0001c0001t0001g0215 others(15): Show a0001c0001t0001g0097 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0002g0042 a0001c0001t0002g0156 a0001c0001t0002g0169 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0064 a0001c0001t0003g0107 a0001c0001t0003g0123 a0001c0001t0003g0143 a0001c0001t0003g0145 a0001c0001t0004g0091 a0001c0001t0006g0105 a0001c0001t0022g0052 a0001c0001t0048g0103 a0001c0001t0054g0093	18	226	0.0797	16	c.-18 others(35): Show c.-18+29976_-18+29977insCTTCTTTCTTTCTTTC	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMPR1B_chr4_94752955_95163448	95026098	A A	ATTTCTTT others(9): Show ATTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00639.hp1 HG00738.hp1 others(16): Show HG00558.hp2 HG00639.hp1 HG00738.hp1 HG01123.hp1 HG01169.hp2 HG02280.hp1 HG02630.hp2 HG02647.hp1 HG02723.hp2 HG03209.hp1 HG03209.hp2 HG03491.hp2 HG03492.hp1 HG03579.hp1 NA18946.hp2 NA18953.hp1 NA19030.hp2 NA19060.hp1 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(11): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0015 a0001c0001t0016 a0001c0001t0020 a0001c0001t0042 a0001c0001t0043 a0001c0001t0045 a0001c0002t0008	a0001c0001t0001g0004 a0001c0001t0001g0154 a0001c0001t0001g0172 others(16): Show a0001c0001t0001g0004 a0001c0001t0001g0154 a0001c0001t0001g0172 a0001c0001t0004g0090 a0001c0001t0005g0199 a0001c0001t0005g0201 a0001c0001t0006g0005 a0001c0001t0006g0075 a0001c0001t0008g0058 a0001c0001t0009g0070 a0001c0001t0009g0071 a0001c0001t0011g0222 a0001c0001t0015g0197 a0001c0001t0016g0178 a0001c0001t0020g0130 a0001c0001t0042g0176 a0001c0001t0043g0193 a0001c0001t0045g0102 a0001c0002t0008g0220	19	226	0.0841	16	c.-18 others(35): Show c.-18+30014_-18+30029dupTTCTTTCTTTCTTTCT	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMPR1B_chr4_94752955_95163448	95026110	C C	CTTTCTTT others(9): Show CTTTCTTTCTTTCTTTT	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01346.hp2 HG01952.hp1 others(6): Show HG01169.hp1 HG01346.hp2 HG01952.hp1 HG02258.hp1 HG03490.hp2 HG03492.hp2 HG04204.hp2 NA18960.hp2 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0011 a0001c0001t0012	a0001c0001t0001g0084 a0001c0001t0001g0087 a0001c0001t0001g0158 others(6): Show a0001c0001t0001g0084 a0001c0001t0001g0087 a0001c0001t0001g0158 a0001c0001t0001g0182 a0001c0001t0004g0063 a0001c0001t0005g0096 a0001c0001t0006g0160 a0001c0001t0011g0191 a0001c0001t0012g0166	9	226	0.0398	16	c.-18 others(35): Show c.-18+29991_-18+29992insTTTTCTTTCTTTCTTT	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMPR1B_chr4_94752955_95163448	95053281	T T	TTGTGTGT others(9): Show TTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01099.hp2 HG01255.hp1 others(3): Show HG00639.hp2 HG01099.hp2 HG01255.hp1 HG03834.hp2 HG04204.hp1 NA20752.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0003 a0001c0001t0006 a0001c0001t0061 others(1): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0061 a0003c0004t0003	a0001c0001t0003g0034 a0001c0001t0003g0099 a0001c0001t0003g0107 others(3): Show a0001c0001t0003g0034 a0001c0001t0003g0099 a0001c0001t0003g0107 a0001c0001t0006g0105 a0001c0001t0061g0100 a0003c0004t0003g0029	6	226	0.0266	16	c.-17 others(35): Show c.-17-51100_-17-51085dupTGTGTGTGTGTGTGTG	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(9): Show GTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0021 a0001c0002t0021	a0001c0002t0021g0217 a0001c0002t0021g0217	1	226	0.0044	16	c.-17 others(35): Show c.-17-32761_-17-32760insATATATATATATATAT	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(9): Show GTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02895.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0214 a0001c0001t0001g0215	2	226	0.0089	16	c.-17 others(35): Show c.-17-32759_-17-32758insATATATATATATATAT	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMPR1B_chr4_94752955_95163448	95071650	G G	GTATATAT others(9): Show GTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01934.hp1 HG01952.hp2 others(8): Show HG00558.hp1 HG01934.hp1 HG01952.hp2 HG02148.hp2 HG03486.hp1 HG03710.hp2 NA18944.hp2 NA18951.hp1 NA19056.hp1 NA19070.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 a0001c0001t0041 a0001c0001t0054	a0001c0001t0001g0163 a0001c0001t0002g0042 a0001c0001t0002g0044 others(8): Show a0001c0001t0001g0163 a0001c0001t0002g0042 a0001c0001t0002g0044 a0001c0001t0002g0068 a0001c0001t0002g0077 a0001c0001t0002g0079 a0001c0001t0002g0092 a0001c0001t0002g0144 a0001c0001t0013g0202 a0001c0001t0041g0118 a0001c0001t0054g0093	11	226	0.0487	16	c.-17 others(35): Show c.-17-32757_-17-32756insATATATATATATATAT	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMPR1B_chr4_94752955_95163448	95071652	G G	GTATATAT others(9): Show GTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0009 a0001c0001t0002g0009	1	226	0.0044	16	c.-17 others(35): Show c.-17-32742_-17-32727dupATATATATATATATAT	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMPR1B_chr4_94752955_95163448	95116421	G G	GCACACAC others(9): Show GCACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01361.hp1 HG01978.hp2 HG01192.hp2 HG01361.hp1 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0002g0083 a0001c0001t0003g0064 a0001c0001t0004g0104 a0001c0001t0002g0083 a0001c0001t0003g0064 a0001c0001t0004g0104	3	226	0.0133	16	c.349 others(31): Show c.349+662_349+677dupACACACACACACACAC	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(9): Show GCGCACACACACACACA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01192.hp1 others(2): Show HG01167.hp1 HG01169.hp2 HG01192.hp1 HG01884.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0037 others(1): Show a0001c0001t0002 a0001c0001t0010 a0001c0001t0037 a0001c0001t0043	a0001c0001t0002g0009 a0001c0001t0010g0192 a0001c0001t0010g0213 others(2): Show a0001c0001t0002g0009 a0001c0001t0010g0192 a0001c0001t0010g0213 a0001c0001t0037g0129 a0001c0001t0043g0193	5	226	0.0221	16	c.349 others(31): Show c.349+635_349+636insGCACACACACACACAC	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMPR1B_chr4_94752955_95163448	95116421	G G	GCGCGCGC others(9): Show GCGCGCGCACACACACA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0001 a0001c0001t0047g0001	1	226	0.0044	16	c.349 others(31): Show c.349+635_349+636insGCGCGCACACACACAC	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMPR1B_chr4_94752955_95163448	95120610	T T	TTTCCTTC others(9): Show TTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00558.hp2 others(45): Show HG00280.hp2 HG00323.hp2 HG00558.hp2 HG00639.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01069.hp2 HG01071.hp2 HG01099.hp1 HG01099.hp2 HG01167.hp2 HG01243.hp1 HG01255.hp1 HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp2 HG01978.hp2 HG01981.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp2 HG02109.hp1 HG02148.hp2 HG02257.hp1 HG02280.hp2 HG02622.hp2 HG02647.hp2 HG03130.hp2 HG03486.hp1 HG03579.hp2 HG03710.hp2 NA18612.hp2 NA18992.hp1 NA19030.hp2 NA19043.hp1 NA19056.hp1 NA20805.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0019 a0001c0001t0022 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0052 a0001c0001t0054 a0001c0001t0059	a0001c0001t0001g0097 a0001c0001t0002g0009 a0001c0001t0002g0042 others(45): Show a0001c0001t0001g0097 a0001c0001t0002g0009 a0001c0001t0002g0042 a0001c0001t0002g0044 a0001c0001t0002g0067 a0001c0001t0002g0077 a0001c0001t0002g0092 a0001c0001t0002g0144 a0001c0001t0002g0169 a0001c0001t0002g0183 a0001c0001t0003g0034 a0001c0001t0003g0064 a0001c0001t0003g0099 a0001c0001t0003g0107 a0001c0001t0003g0123 a0001c0001t0003g0143 a0001c0001t0004g0003 a0001c0001t0004g0045 a0001c0001t0004g0054 a0001c0001t0004g0063 a0001c0001t0004g0089 a0001c0001t0004g0090 a0001c0001t0004g0091 a0001c0001t0004g0094 a0001c0001t0004g0104 a0001c0001t0004g0112 a0001c0001t0004g0113 a0001c0001t0004g0149 a0001c0001t0004g0150 a0001c0001t0005g0201 a0001c0001t0010g0018 a0001c0001t0010g0046 a0001c0001t0013g0202 a0001c0001t0014g0194 a0001c0001t0014g0212 a0001c0001t0016g0126 a0001c0001t0016g0178 a0001c0001t0016g0200 a0001c0001t0019g0109 a0001c0001t0019g0165 a0001c0001t0022g0052 a0001c0001t0022g0108 a0001c0001t0047g0001 a0001c0001t0048g0103 a0001c0001t0049g0085 a0001c0001t0052g0196 a0001c0001t0054g0093 a0001c0001t0059g0124	48	226	0.2124	16	c.350 others(33): Show c.350-3173_350-3158dupCCTTCCTTCCTTCCTT	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(9): Show CTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00558.hp1 HG00738.hp2 others(27): Show HG00280.hp2 HG00558.hp1 HG00738.hp2 HG01069.hp1 HG01106.hp2 HG01255.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp2 HG01934.hp1 HG01952.hp2 HG01981.hp1 HG02027.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp2 HG02148.hp2 HG02257.hp1 HG02723.hp1 HG03654.hp1 HG03710.hp2 NA18522.hp2 NA18612.hp2 NA18948.hp1 NA18951.hp1 NA18988.hp1 NA19004.hp1 NA19056.hp1 NA19060.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0018 a0001c0001t0022 a0001c0001t0048 a0001c0001t0049 a0001c0001t0054 a0001c0001t0059 a0001c0002t0021	a0001c0001t0001g0069 a0001c0001t0001g0097 a0001c0001t0001g0146 others(27): Show a0001c0001t0001g0069 a0001c0001t0001g0097 a0001c0001t0001g0146 a0001c0001t0001g0163 a0001c0001t0002g0009 a0001c0001t0002g0042 a0001c0001t0002g0044 a0001c0001t0002g0062 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0077 a0001c0001t0002g0079 a0001c0001t0002g0092 a0001c0001t0002g0138 a0001c0001t0002g0156 a0001c0001t0002g0161 a0001c0001t0002g0169 a0001c0001t0002g0218 a0001c0001t0003g0036 a0001c0001t0003g0098 a0001c0001t0003g0164 a0001c0001t0003g0195 a0001c0001t0018g0055 a0001c0001t0022g0052 a0001c0001t0022g0108 a0001c0001t0048g0103 a0001c0001t0049g0085 a0001c0001t0054g0093 a0001c0001t0059g0124 a0001c0002t0021g0014	30	226	0.1327	16	c.585 others(33): Show c.585+1935_585+1950dupGTGTGTGTGTGTGTGT	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMPR1B_chr4_94752955_95163448	95160537	C C	CCCTCCCT others(9): Show CCCTCCCTCCCTCCCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0200 a0001c0001t0016g0200	1	226	0.0044	16	c.58 others(27): Show c.5864_*5865insCCTCCCTCCCTCCCTT	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding		2090		chr4	TogoVar
BMPR1B_chr4_94752955_95163448	95160537	C C	CCCTCCCT others(9): Show CCCTCCCTCCCTTCCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0021 a0001c0002t0021	a0001c0002t0021g0217 a0001c0002t0021g0217	1	226	0.0044	16	c.58 others(27): Show c.5864_*5865insCCTCCCTCCCTTCCTT	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding		2090		chr4	TogoVar
BMPR2_chr2_202371327_202572749	202393882	C C	CGAGAGAG others(9): Show CGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	224	0.0045	16	c.76+ others(33): Show c.76+16369_76+16384dupGAGAGAGAGAGAGAGA	BMPR2	ENSG00000204217.16	transcript	ENST00000374580.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
BMPR2_chr2_202371327_202572749	202434908	A A	AAAATATA others(9): Show AAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG02896.hp1 HG02897.hp1 others(1): Show HG00099.hp1 HG02896.hp1 HG02897.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0019 a0001c0002t0002 a0001c0001t0019 a0001c0002t0002	a0001c0001t0019g0010 a0001c0001t0019g0011 a0001c0002t0002g0055 others(1): Show a0001c0001t0019g0010 a0001c0001t0019g0011 a0001c0002t0002g0055 a0001c0002t0002g0134	4	224	0.0179	16	c.77- others(33): Show c.77-29900_77-29899insAATATATATATATATA	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(9): Show AATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0078 a0001c0002t0002g0078	1	224	0.0045	16	c.77- others(33): Show c.77-29888_77-29873dupATATATATATATATAT	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(9): Show CATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01099.hp1 NA20129.hp2 HG00741.hp1 HG01099.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0041 a0001c0002t0002 a0001c0001t0001 a0001c0001t0041 a0001c0002t0002	a0001c0001t0001g0008 a0001c0001t0041g0143 a0001c0002t0002g0005 a0001c0001t0001g0008 a0001c0001t0041g0143 a0001c0002t0002g0005	3	224	0.0134	16	c.77- others(33): Show c.77-29416_77-29401dupATATATATATATATAT	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(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01069.hp1 HG02155.hp2 others(4): Show HG00423.hp2 HG01069.hp1 HG02155.hp2 HG02559.hp1 HG03225.hp1 HG03471.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0022 a0001c0001t0027 others(1): Show a0001c0001t0001 a0001c0001t0022 a0001c0001t0027 a0001c0001t0039	a0001c0001t0001g0162 a0001c0001t0001g0168 a0001c0001t0001g0185 others(4): Show a0001c0001t0001g0162 a0001c0001t0001g0168 a0001c0001t0001g0185 a0001c0001t0001g0198 a0001c0001t0022g0042 a0001c0001t0027g0140 a0001c0001t0039g0137	7	224	0.0313	16	c.418 others(35): Show c.418+17860_418+17875dupTTTTTTTTTTTTTTTT	BMPR2	ENSG00000204217.16	transcript	ENST00000374580.10	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
BMPR2_chr2_202371327_202572749	202543225	T T	TATATATA others(9): Show TATATATATTTATATAC	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0066 a0001c0002t0002g0066	1	224	0.0045	16	c.141 others(33): Show c.1413+801_1413+816dupATTTATATACATATAT	BMPR2	ENSG00000204217.16	transcript	ENST00000374580.10	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
BMPR2_chr2_202371327_202572749	202572271	A A	ATTTTTTT others(9): Show ATTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp1 HG01358.hp2 HG01515.hp2 others(6): Show HG01257.hp1 HG01358.hp2 HG01515.hp2 HG01517.hp1 HG01993.hp2 HG02273.hp2 HG02293.hp2 NA18522.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0008 a0001c0001 a0003c0008	a0001c0001t0003 a0001c0001t0015 a0001c0001t0052 others(1): Show a0001c0001t0003 a0001c0001t0015 a0001c0001t0052 a0003c0008t0003	a0001c0001t0003g0012 a0001c0001t0003g0018 a0001c0001t0003g0019 others(6): Show a0001c0001t0003g0012 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0029 a0001c0001t0015g0023 a0001c0001t0015g0028 a0001c0001t0052g0145 a0003c0008t0003g0030	9	224	0.0402	16	c.12 others(29): Show c.12325_*12326insTTTTTTTTTTTTTTTT	BMPR2	ENSG00000204217.16	transcript	ENST00000374580.10	protein_coding		4523		chr2	TogoVar
BMT2_chr7_112814147_112944875	112907842	C C	CTTACTTA others(9): Show CTTACTTATTTATTTAT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03139.hp2 HG03209.hp2 HG02717.hp1 HG03139.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0025 a0001c0001t0003g0029 a0001c0001t0003g0033 a0001c0001t0003g0025 a0001c0001t0003g0029 a0001c0001t0003g0033	3	206	0.0146	16	c.302 others(33): Show c.302+7463_302+7464insATAAATAAATAAGTAA	BMT2	ENSG00000164603.12	transcript	ENST00000297145.9	protein_coding	2/4			chr7	TogoVar
BNC1_chr15_83250884_83289664	83285253	G G	GCACACAC others(9): Show GCACACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 HG02970.hp2 HG03486.hp1 others(1): Show HG02922.hp1 HG02970.hp2 HG03486.hp1 NA21309.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0008 a0001c0001 a0007c0008	a0001c0001t0002 a0007c0008t0009 a0001c0001t0002 a0007c0008t0009	a0001c0001t0002g0038 a0001c0001t0002g0139 a0007c0008t0009g0145 a0001c0001t0002g0038 a0001c0001t0002g0139 a0007c0008t0009g0145	4	304	0.0132	16	c.-62 others(25): Show c.-626_-625insTGTGTGTGTGTGTGTG	BNC1	ENSG00000169594.14	transcript	ENST00000345382.7	protein_coding		590		chr15	TogoVar
BNC2_chr9_16404503_16875670	16412720	G G	GGAGAGAG others(9): Show GGAGAGAGAGAGAGAGA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01361.hp2 HG02809.hp2 HG01361.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0017 a0001c0001t0019g0116 a0001c0001t0019g0017 a0001c0001t0019g0116	2	176	0.0114	16	c.62 others(27): Show c.6253_*6268dupTCTCTCTCTCTCTCTC	BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	7/7	6268		chr9	TogoVar
BNC2_chr9_16404503_16875670	16418873	G G	GCACACAC others(9): Show GCACACACACACACACA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00438.hp1 HG02602.hp1 HG04199.hp1 others(4): Show HG00438.hp1 HG02602.hp1 HG04199.hp1 NA18962.hp2 NA19003.hp1 NA19005.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0011 a0001c0001t0108 a0001c0001t0010 a0001c0001t0011 a0001c0001t0108	a0001c0001t0010g0111 a0001c0001t0010g0146 a0001c0001t0010g0166 others(4): Show a0001c0001t0010g0111 a0001c0001t0010g0146 a0001c0001t0010g0166 a0001c0001t0011g0039 a0001c0001t0011g0106 a0001c0001t0011g0107 a0001c0001t0108g0126	7	176	0.0398	16	c.10 others(25): Show c.100_*115dupTGTGTGTGTGTGTGTG	BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	7/7	115		chr9	TogoVar
BNC2_chr9_16404503_16875670	16418873	G G	GCGCACAC others(9): Show GCGCACACACACACACA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02717.hp2 NA18983.hp2 NA19002.hp1 HG02717.hp2 NA18983.hp2 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0020 a0001c0001 a0001c0020	a0001c0001t0031 a0001c0020t0107 a0001c0001t0031 a0001c0020t0107	a0001c0001t0031g0129 a0001c0001t0031g0159 a0001c0020t0107g0118 a0001c0001t0031g0129 a0001c0001t0031g0159 a0001c0020t0107g0118	3	176	0.0171	16	c.11 others(25): Show c.115_*116insTGTGTGTGTGTGTGCG	BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	7/7	115		chr9	TogoVar
BNC2_chr9_16404503_16875670	16463294	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0039 a0001c0001t0011g0039	1	176	0.0057	16	c.670 others(35): Show c.670-25786_670-25771dupAAAAAAAAAAAAAAAA	BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	5/6			chr9	TogoVar
BNC2_chr9_16404503_16875670	16539642	G G	GAAGGAAG others(9): Show GAAGGAAGGGGAAGGAA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0007 a0007	a0007c0013 a0007c0013	a0007c0013t0103 a0007c0013t0103	a0007c0013t0103g0019 a0007c0013t0103g0019	1	176	0.0057	16	c.669 others(35): Show c.669+12887_669+12888insTTCCTTCCCCTTCCTT	BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	5/6			chr9	TogoVar
BNC2_chr9_16404503_16875670	16539730	G G	GAAAGGAA others(9): Show GAAAGGAAAGGAAAGGA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02965.hp2 HG02970.hp1 HG02109.hp1 HG02965.hp2 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0014 a0001c0001t0104 a0001c0001t0007 a0001c0001t0014 a0001c0001t0104	a0001c0001t0007g0085 a0001c0001t0014g0041 a0001c0001t0104g0087 a0001c0001t0007g0085 a0001c0001t0014g0041 a0001c0001t0104g0087	3	176	0.0171	16	c.669 others(35): Show c.669+12799_669+12800insTCCTTTCCTTTCCTTT	BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	5/6			chr9	TogoVar
BNC2_chr9_16404503_16875670	16616790	G G	GGGAAGGA others(9): Show GGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01099.hp2 HG01123.hp1 others(25): Show HG00438.hp1 HG01099.hp2 HG01123.hp1 HG01496.hp1 HG01496.hp2 HG01928.hp1 HG01978.hp1 HG02055.hp2 HG02056.hp1 HG02083.hp2 HG02615.hp2 HG02738.hp1 HG02886.hp1 HG03579.hp2 HG03704.hp2 NA18522.hp1 NA18948.hp1 NA18952.hp1 NA18962.hp1 NA18971.hp2 NA18982.hp1 NA18986.hp1 NA18991.hp2 NA18999.hp1 NA18999.hp2 NA19003.hp1 NA19005.hp2 NA19011.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0008	a0001c0001 a0001c0005 a0001c0015 others(3): Show a0001c0001 a0001c0005 a0001c0015 a0002c0003 a0005c0006 a0008c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0015 a0001c0001t0018 a0001c0001t0024 a0001c0001t0032 a0001c0001t0036 a0001c0001t0037 a0001c0001t0039 a0001c0001t0040 a0001c0001t0072 a0001c0001t0078 a0001c0001t0079 a0001c0001t0110 a0001c0005t0073 a0001c0015t0012 a0002c0003t0001 a0002c0003t0069 a0005c0006t0026 a0008c0010t0001	a0001c0001t0001g0021 a0001c0001t0001g0141 a0001c0001t0002g0112 others(25): Show a0001c0001t0001g0021 a0001c0001t0001g0141 a0001c0001t0002g0112 a0001c0001t0002g0169 a0001c0001t0004g0054 a0001c0001t0004g0152 a0001c0001t0008g0174 a0001c0001t0010g0111 a0001c0001t0010g0146 a0001c0001t0011g0106 a0001c0001t0015g0052 a0001c0001t0018g0172 a0001c0001t0024g0018 a0001c0001t0032g0076 a0001c0001t0036g0147 a0001c0001t0037g0009 a0001c0001t0039g0026 a0001c0001t0040g0165 a0001c0001t0072g0132 a0001c0001t0078g0011 a0001c0001t0079g0128 a0001c0001t0110g0008 a0001c0005t0073g0037 a0001c0015t0012g0123 a0002c0003t0001g0090 a0002c0003t0069g0043 a0005c0006t0026g0049 a0008c0010t0001g0124	28	176	0.1591	16	c.331 others(35): Show c.331-33721_331-33706dupTTCCTTCCTTCCTTCC	BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	3/6			chr9	TogoVar
BNC2_chr9_16404503_16875670	16616836	G G	GAAGGAAG others(9): Show GAAGGAAGGAAGGAAGT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG04184.hp2 HG01123.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0075 a0001c0001t0080 a0001c0001t0075 a0001c0001t0080	a0001c0001t0075g0042 a0001c0001t0080g0069 a0001c0001t0075g0042 a0001c0001t0080g0069	2	176	0.0114	16	c.331 others(35): Show c.331-33752_331-33751insACTTCCTTCCTTCCTT	BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	3/6			chr9	TogoVar
BNC2_chr9_16404503_16875670	16616837	A A	AAGGAAGG others(9): Show AAGGAAGGAAGGAAGTT	intron_variant intron_variant	MODIFIER	HG01433.hp1 NA19056.hp1 NA19056.hp2 HG01433.hp1 NA19056.hp1 NA19056.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0001c0001t0042 a0002c0003t0070 a0001c0001t0002 a0001c0001t0042 a0002c0003t0070	a0001c0001t0002g0145 a0001c0001t0042g0059 a0002c0003t0070g0163 a0001c0001t0002g0145 a0001c0001t0042g0059 a0002c0003t0070g0163	3	176	0.0171	16	c.331 others(35): Show c.331-33753_331-33752insAACTTCCTTCCTTCCT	BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	3/6			chr9	TogoVar
BNC2_chr9_16404503_16875670	16663130	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02055.hp2 HG01496.hp2 HG02055.hp2	a0001 a0005 a0001 a0005	a0001c0015 a0005c0006 a0001c0015 a0005c0006	a0001c0015t0012 a0005c0006t0026 a0001c0015t0012 a0005c0006t0026	a0001c0015t0012g0123 a0005c0006t0026g0049 a0001c0015t0012g0123 a0005c0006t0026g0049	2	176	0.0114	16	c.330 others(35): Show c.330+64651_330+64666dupAAAAAAAAAAAAAAAA	BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	3/6			chr9	TogoVar
BNC2_chr9_16404503_16875670	16665386	A A	AAGAGAGA others(9): Show AAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02258.hp1 HG02559.hp1 others(4): Show HG02257.hp1 HG02258.hp1 HG02559.hp1 HG02723.hp1 HG02886.hp1 HG02970.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0014 others(3): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0014 a0001c0001t0020 a0001c0001t0028 a0001c0001t0032	a0001c0001t0001g0029 a0001c0001t0001g0060 a0001c0001t0008g0014 others(4): Show a0001c0001t0001g0029 a0001c0001t0001g0060 a0001c0001t0008g0014 a0001c0001t0014g0032 a0001c0001t0020g0081 a0001c0001t0028g0033 a0001c0001t0032g0076	7	176	0.0398	16	c.330 others(35): Show c.330+62395_330+62410dupCTCTCTCTCTCTCTCT	BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	3/6			chr9	TogoVar
BNC2_chr9_16404503_16875670	16665434	A A	AAAAGAAA others(9): Show AAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0117 a0001c0001t0009g0117	1	176	0.0057	16	c.330 others(35): Show c.330+62347_330+62362dupCTTTCTTTCTTTCTTT	BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	3/6			chr9	TogoVar
BNC2_chr9_16404503_16875670	16677578	A A	AACACACA others(9): Show AACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03098.hp1 HG03540.hp2 others(4): Show HG02809.hp2 HG03098.hp1 HG03540.hp2 HG04184.hp1 NA19003.hp2 NA19005.hp2 NA19056.hp2	a0001 a0003 a0011 a0001 a0003 a0011	a0001c0001 a0001c0002 a0003c0022 others(1): Show a0001c0001 a0001c0002 a0003c0022 a0011c0019	a0001c0001t0011 a0001c0001t0019 a0001c0001t0042 others(4): Show a0001c0001t0011 a0001c0001t0019 a0001c0001t0042 a0001c0001t0045 a0001c0002t0094 a0003c0022t0027 a0011c0019t0076	a0001c0001t0011g0106 a0001c0001t0019g0116 a0001c0001t0042g0059 others(4): Show a0001c0001t0011g0106 a0001c0001t0019g0116 a0001c0001t0042g0059 a0001c0001t0045g0139 a0001c0002t0094g0168 a0003c0022t0027g0073 a0011c0019t0076g0003	7	176	0.0398	16	c.330 others(35): Show c.330+50203_330+50218dupGTGTGTGTGTGTGTGT	BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	3/6			chr9	TogoVar
BNC2_chr9_16404503_16875670	16677606	C C	CACACACA others(9): Show CACACACACACACACAG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02895.hp1 HG01891.hp2 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0023 a0001c0001t0007 a0001c0001t0023	a0001c0001t0007g0158 a0001c0001t0023g0084 a0001c0001t0007g0158 a0001c0001t0023g0084	2	176	0.0114	16	c.330 others(35): Show c.330+50190_330+50191insCTGTGTGTGTGTGTGT	BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	3/6			chr9	TogoVar
BNC2_chr9_16404503_16875670	16732162	A A	AAAAAAAA others(9): Show AAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0013 a0013	a0013c0017 a0013c0017	a0013c0017t0068 a0013c0017t0068	a0013c0017t0068g0122 a0013c0017t0068g0122	1	176	0.0057	16	c.130 others(33): Show c.130-4166_130-4165insCTTTTTTTTTTTTTTT	BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	2/6			chr9	TogoVar
BNC2_chr9_16404503_16875670	16748922	C C	CTATATAT others(9): Show CTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0076 a0001c0001t0032g0076	1	176	0.0057	16	c.4-1 others(31): Show c.4-10453_4-10438dupTATATATATATATATA	BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	1/6			chr9	TogoVar
BNC2_chr9_16404503_16875670	16751638	A A	ATGTGTGT others(9): Show ATGTGTGTATATATATG	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01106.hp2 HG01123.hp2 others(11): Show HG01074.hp2 HG01106.hp2 HG01123.hp2 HG01243.hp1 HG01361.hp1 HG01496.hp2 HG01516.hp1 HG01978.hp2 HG02698.hp2 HG03490.hp1 HG03669.hp2 HG03704.hp1 HG03831.hp1 HG06807.hp2	a0001 a0010 a0013 a0001 a0010 a0013	a0001c0001 a0001c0002 a0001c0015 others(2): Show a0001c0001 a0001c0002 a0001c0015 a0010c0009 a0013c0017	a0001c0001t0005 a0001c0001t0012 a0001c0001t0015 others(10): Show a0001c0001t0005 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0048 a0001c0001t0050 a0001c0001t0054 a0001c0001t0080 a0001c0002t0006 a0001c0015t0012 a0010c0009t0084 a0013c0017t0068	a0001c0001t0005g0102 a0001c0001t0012g0094 a0001c0001t0015g0091 others(11): Show a0001c0001t0005g0102 a0001c0001t0012g0094 a0001c0001t0015g0091 a0001c0001t0016g0143 a0001c0001t0018g0095 a0001c0001t0048g0101 a0001c0001t0050g0097 a0001c0001t0054g0142 a0001c0001t0080g0069 a0001c0002t0006g0070 a0001c0002t0006g0171 a0001c0015t0012g0123 a0010c0009t0084g0098 a0013c0017t0068g0122	14	176	0.0796	16	c.4-1 others(31): Show c.4-13154_4-13153insCATATATATACACACA	BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	1/6			chr9	TogoVar
BNC2_chr9_16404503_16875670	16780249	A A	AAAAACAA others(9): Show AAAAACAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0041 a0001c0001t0014g0041	1	176	0.0057	16	c.4-4 others(31): Show c.4-41765_4-41764insGTTTTTTTTTTGTTTT	BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	1/6			chr9	TogoVar
BNC2_chr9_16404503_16875670	16811230	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02809.hp2 HG02818.hp2 HG02145.hp1 HG02809.hp2 HG02818.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0019 a0001c0001t0028 a0004c0004t0060 a0001c0001t0019 a0001c0001t0028 a0004c0004t0060	a0001c0001t0019g0116 a0001c0001t0028g0114 a0004c0004t0060g0045 a0001c0001t0019g0116 a0001c0001t0028g0114 a0004c0004t0060g0045	3	176	0.0171	16	c.3+5 others(31): Show c.3+59415_3+59416insTTTTTTTTTTTTTTTT	BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	1/6			chr9	TogoVar
BNIP3L_chr8_26378054_26418127	26388807	C C	CTAAATAA others(9): Show CTAAATAAATAAATAAA	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	406	0.0025	16	c.101 others(33): Show c.101-2416_101-2401dupATAAATAAATAAATAA	BNIP3L	ENSG00000104765.16	transcript	ENST00000380629.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
BNIP5_chr6_36310761_36341888	36338431	G G	GAGGAAGG others(9): Show GAGGAAGGAAGGAAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0275 a0001c0001t0001g0275	1	424	0.0024	16	c.-17 others(27): Show c.-1725_-1724insTCCTTCCTTCCTTCCT	BNIP5	ENSG00000189325.7	transcript	ENST00000437635.3	protein_coding		1544		chr6	TogoVar
BNIP5_chr6_36310761_36341888	36338431	G G	GAGGGAGG others(9): Show GAGGGAGGAAGGAAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00621.hp1 HG02886.hp1 others(9): Show HG00099.hp1 HG00621.hp1 HG02886.hp1 HG02895.hp1 HG02897.hp2 HG03688.hp2 NA18747.hp2 NA18966.hp2 NA18993.hp1 NA18995.hp1 NA19054.hp1 NA19087.hp1	a0001 a0002 a0017 a0001 a0002 a0017	a0001c0001 a0001c0009 a0002c0002 others(1): Show a0001c0001 a0001c0009 a0002c0002 a0017c0024	a0001c0001t0001 a0001c0009t0001 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0009t0001 a0002c0002t0001 a0017c0024t0001	a0001c0001t0001g0027 a0001c0001t0001g0113 a0001c0001t0001g0133 others(8): Show a0001c0001t0001g0027 a0001c0001t0001g0113 a0001c0001t0001g0133 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0009t0001g0144 a0001c0009t0001g0145 a0002c0002t0001g0134 a0002c0002t0001g0146 a0002c0002t0001g0152 a0017c0024t0001g0147	12	424	0.0283	16	c.-17 others(27): Show c.-1725_-1724insTCCTTCCTTCCTCCCT	BNIP5	ENSG00000189325.7	transcript	ENST00000437635.3	protein_coding		1544		chr6	TogoVar
BOC_chr3_113206557_113292459	113233148	G G	GGTGTGTG others(9): Show GGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00673.hp1 NA18993.hp2 HG00673.hp1 NA18993.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0004 a0001c0002 a0002c0004	a0001c0002t0016 a0002c0004t0023 a0001c0002t0016 a0002c0004t0023	a0001c0002t0016g0342 a0002c0004t0023g0168 a0001c0002t0016g0342 a0002c0004t0023g0168	2	386	0.0052	16	c.-81 others(35): Show c.-81-16541_-81-16526dupGTGTGTGTGTGTGTGT	BOC	ENSG00000144857.15	transcript	ENST00000682979.1	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr3	TogoVar
BOD1L1_chr4_13563738_13632725	13573442	G G	GTCTATCT others(9): Show GTCTATCTATCTATCTA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00609.hp2 HG00639.hp1 others(32): Show HG00140.hp2 HG00609.hp2 HG00639.hp1 HG00735.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01123.hp1 HG01243.hp1 HG01361.hp1 HG01433.hp1 HG01981.hp2 HG02004.hp1 HG02165.hp2 HG02523.hp2 HG02735.hp2 HG03017.hp2 HG03139.hp1 HG03471.hp2 HG03490.hp1 HG03654.hp1 HG03704.hp1 NA18948.hp2 NA18949.hp2 NA18960.hp2 NA18963.hp1 NA18968.hp1 NA18971.hp2 NA18975.hp2 NA18993.hp1 NA18998.hp1 NA19054.hp1 NA19077.hp2 NA20752.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0021 a0023	a0001c0001 a0001c0017 a0002c0002 others(3): Show a0001c0001 a0001c0017 a0002c0002 a0004c0004 a0021c0024 a0023c0023	a0001c0001t0001 a0001c0001t0008 a0001c0017t0001 others(4): Show a0001c0001t0001 a0001c0001t0008 a0001c0017t0001 a0002c0002t0001 a0004c0004t0001 a0021c0024t0003 a0023c0023t0001	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0018 others(29): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0018 a0001c0001t0001g0039 a0001c0001t0001g0045 a0001c0001t0001g0050 a0001c0001t0001g0054 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0086 a0001c0001t0001g0100 a0001c0001t0001g0114 a0001c0001t0001g0181 a0001c0001t0001g0188 a0001c0001t0001g0196 a0001c0001t0001g0200 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0008g0084 a0001c0017t0001g0025 a0002c0002t0001g0146 a0004c0004t0001g0035 a0004c0004t0001g0091 a0004c0004t0001g0092 a0021c0024t0003g0024 a0023c0023t0001g0109	35	258	0.1357	16	c.903 others(35): Show c.9039-3330_9039-3315dupTAGATAGATAGATAGA	BOD1L1	ENSG00000038219.13	transcript	ENST00000040738.10	protein_coding	25/25			chr4	TogoVar

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