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
B3GNTL1_chr17_82937149_83056770	83032512	A A	AGGTCAGA others(46): Show AGGTCAGACCAGGCCAGACCTCCGACCCAGACCGAGCTCGGGAGCTGAAC AACG	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG01261.hp1 others(10): Show HG01167.hp2 HG01169.hp1 HG01261.hp1 HG02055.hp1 HG02559.hp1 HG02572.hp2 HG02886.hp1 HG02896.hp1 HG03130.hp1 HG03130.hp2 HG03225.hp2 HG03453.hp1 HG06807.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0011 a0001c0013 others(2): Show a0001c0001 a0001c0011 a0001c0013 a0001c0014 a0004c0017	a0001c0001t0011 a0001c0001t0012 a0001c0011t0001 others(6): Show a0001c0001t0011 a0001c0001t0012 a0001c0011t0001 a0001c0011t0010 a0001c0011t0017 a0001c0013t0012 a0001c0014t0001 a0001c0014t0002 a0004c0017t0002	a0001c0001t0011g0067 a0001c0001t0012g0148 a0001c0011t0001g0144 others(9): Show a0001c0001t0011g0067 a0001c0001t0012g0148 a0001c0011t0001g0144 a0001c0011t0010g0146 a0001c0011t0010g0147 a0001c0011t0017g0145 a0001c0013t0012g0001 a0001c0013t0012g0013 a0001c0013t0012g0014 a0001c0014t0001g0012 a0001c0014t0002g0011 a0004c0017t0002g0137	13	266	0.0489	53	c.297 others(70): Show c.297+2522_297+2523insCGTTGTTCAGCTCCCGAGCTCGGTCTGG GTCGGAGGTCTGGCCTGGTCTGACC	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	4/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83032512	A A	AGGTCAGA others(46): Show AGGTCAGACCAGGCCAGGCCTCCGACCCAGACCGAGCTCGGGAGCTGAAC AACG	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0095 a0001c0002t0002g0095	1	266	0.0038	53	c.297 others(70): Show c.297+2522_297+2523insCGTTGTTCAGCTCCCGAGCTCGGTCTGG GTCGGAGGCCTGGCCTGGTCTGACC	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	4/12			chr17	TogoVar
B4GALNT4_chr11_364499_387117	374793	A A	AAGGGAGG others(46): Show AAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGA AGGG	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0023 a0023	a0023c0035 a0023c0035	a0023c0035t0001 a0023c0035t0001	a0023c0035t0001g0005 a0023c0035t0001g0005	1	184	0.0054	53	c.784 others(68): Show c.784-657_784-656insGAGGAGGAAGGGAGGGAGGAGGAAGGGAGG GAGGAGGAAGGGAGGGAGGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALNT4_chr11_364499_387117	375125	A A	AAGGGAGG others(46): Show AAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGA AGGG	intron_variant intron_variant	MODIFIER	HG04115.hp2 NA18970.hp1 NA19012.hp2 others(1): Show HG04115.hp2 NA18970.hp1 NA19012.hp2 NA19088.hp2	a0002 a0002	a0002c0002 a0002c0007 a0002c0002 a0002c0007	a0002c0002t0001 a0002c0007t0001 a0002c0002t0001 a0002c0007t0001	a0002c0002t0001g0112 a0002c0002t0001g0119 a0002c0002t0001g0123 others(1): Show a0002c0002t0001g0112 a0002c0002t0001g0119 a0002c0002t0001g0123 a0002c0007t0001g0136	4	184	0.0217	53	c.784 others(68): Show c.784-325_784-324insGAGGAGGAAGGGAGGGAGGAGGAAGGGAGG GAGGAGGAAGGGAGGGAGGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALNT4_chr11_364499_387117	375140	A A	AAGGGAGG others(46): Show AAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGA AGGG	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0122 a0002c0002t0001g0122	1	184	0.0054	53	c.784 others(68): Show c.784-310_784-309insGAGGAGGAAGGGAGGGAGGAGGAAGGGAGG GAGGAGGAAGGGAGGGAGGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALNT4_chr11_364499_387117	375155	A A	AAGGGAGG others(46): Show AAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGA AGGG	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03834.hp2 HG03831.hp1 HG03834.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0046 a0002c0002t0001g0049 a0002c0002t0001g0046 a0002c0002t0001g0049	2	184	0.0109	53	c.784 others(68): Show c.784-295_784-294insGAGGAGGAAGGGAGGGAGGAGGAAGGGAGG GAGGAGGAAGGGAGGGAGGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BBS2_chr16_56479385_56525024	56518771	A A	AGCATTTT others(46): Show AGCATTTTGGGCATGCCTCCGTCAAATACACAGGGCTCTGATTTGCCTTG TCTG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(47): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00639.hp1 HG00735.hp2 HG01081.hp1 HG01167.hp2 HG01169.hp2 HG01255.hp1 HG01515.hp2 HG01516.hp1 HG01884.hp1 HG01928.hp1 HG01978.hp2 HG01981.hp2 HG02055.hp1 HG02109.hp2 HG02257.hp2 HG02280.hp1 HG02523.hp1 HG02572.hp1 HG02615.hp1 HG02698.hp2 HG02735.hp1 HG02818.hp1 HG02886.hp2 HG03017.hp2 HG03225.hp1 HG03710.hp1 HG03831.hp1 HG03927.hp1 HG04184.hp2 HG06807.hp1 NA18522.hp1 NA18612.hp1 NA18940.hp2 NA18941.hp1 NA18945.hp1 NA18955.hp1 NA18975.hp1 NA18981.hp1 NA18982.hp2 NA18992.hp1 NA19009.hp1 NA19043.hp1 NA19077.hp2 NA19080.hp2 NA19087.hp1 NA19240.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0022 a0001c0001t0001g0023 others(28): Show a0001c0001t0001g0001 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0213 a0001c0001t0001g0214	50	398	0.1256	53	c.117 others(68): Show c.117+974_117+975insCAGACAAGGCAAATCAGAGCCCTGTGTATT TGACGGAGGCATGCCCAAAATGC	BBS2	ENSG00000125124.14	transcript	ENST00000245157.11	protein_coding	1/16			chr16	TogoVar
BCAT1_chr12_24805024_24954101	24837146	A A	AAGGAAGA others(46): Show AAGGAAGAAAGAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGG AGGG	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01175.hp1 HG01256.hp2 others(3): Show HG01123.hp2 HG01175.hp1 HG01256.hp2 HG01361.hp1 NA20300.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0011 a0001c0001t0068 others(1): Show a0001c0001t0002 a0001c0001t0011 a0001c0001t0068 a0001c0001t0070	a0001c0001t0002g0233 a0001c0001t0011g0030 a0001c0001t0011g0039 others(3): Show a0001c0001t0002g0233 a0001c0001t0011g0030 a0001c0001t0011g0039 a0001c0001t0011g0280 a0001c0001t0068g0032 a0001c0001t0070g0197	6	322	0.0186	53	c.818 others(68): Show c.818-551_818-550insCCCTCCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCTCTTTCTTCCT	BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding	7/10			chr12	TogoVar
BCL11A_chr2_60452194_60558654	60467468	G G	GTGGTGGT others(46): Show GTGGTGGTGGTGGTAGTGATGGTGGTGGTAATGGTGGTGGTGGTGGTAGT GGTA	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0085 a0001c0001t0004g0085	1	262	0.0038	53	c.487 others(70): Show c.487+1263_487+1264insTACCACTACCACCACCACCACCATTACC ACCACCATCACTACCACCACCACCA	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	3/3			chr2	TogoVar
BCL2L10_chr15_52104263_52117775	52117102	A A	ATATATAT others(46): Show ATATATATATATATATATATATATATATATATATATATATATTTTTTTTT TTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0019 a0002c0002t0001g0019	1	458	0.0022	53	c.-43 others(64): Show c.-4377_-4376insAAAAAAAAAAAAATATATATATATATATATATAT ATATATATATATATATATA	BCL2L10	ENSG00000137875.4	transcript	ENST00000260442.3	protein_coding		4328		chr15	TogoVar
BCL2L10_chr15_52104263_52117775	52117102	A A	ATATATAT others(46): Show ATATATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTT TTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0066 a0002c0002t0002g0066	1	458	0.0022	53	c.-43 others(64): Show c.-4377_-4376insAAAAAAAAAAAAAAAAAAAAATATATATATATAT ATATATATATATATATATA	BCL2L10	ENSG00000137875.4	transcript	ENST00000260442.3	protein_coding		4328		chr15	TogoVar
BCL2L10_chr15_52104263_52117775	52117102	A A	ATATATAT others(46): Show ATATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTT TTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG01099.hp2 HG00741.hp1 HG01099.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0011 a0002c0002t0002g0083 a0002c0002t0002g0011 a0002c0002t0002g0083	2	458	0.0044	53	c.-43 others(64): Show c.-4377_-4376insAAAAAAAAAAAAAAAAAAAAAAATATATATATAT ATATATATATATATATATA	BCL2L10	ENSG00000137875.4	transcript	ENST00000260442.3	protein_coding		4328		chr15	TogoVar
BCL2L10_chr15_52104263_52117775	52117102	A A	ATATATAT others(46): Show ATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTT TTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0042 a0002c0002t0002g0042	1	458	0.0022	53	c.-43 others(64): Show c.-4377_-4376insAAAAAAAAAAAAAAAAAAAAAAAAATATATATAT ATATATATATATATATATA	BCL2L10	ENSG00000137875.4	transcript	ENST00000260442.3	protein_coding		4328		chr15	TogoVar
BCL2L10_chr15_52104263_52117775	52117102	A A	ATATATAT others(46): Show ATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTT TTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0078 a0002c0002t0003g0078	1	458	0.0022	53	c.-43 others(64): Show c.-4377_-4376insAAAAAAAAAAAAAAAAAAAAAAAAAAATATATAT ATATATATATATATATATA	BCL2L10	ENSG00000137875.4	transcript	ENST00000260442.3	protein_coding		4328		chr15	TogoVar
BCL2L10_chr15_52104263_52117775	52117102	A A	ATATATAT others(46): Show ATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTT TTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp2 HG04184.hp1 HG02523.hp2 HG04184.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0018 a0002c0002t0002g0042 a0002c0002t0002g0018 a0002c0002t0002g0042	2	458	0.0044	53	c.-43 others(64): Show c.-4377_-4376insAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATAT ATATATATATATATATATA	BCL2L10	ENSG00000137875.4	transcript	ENST00000260442.3	protein_coding		4328		chr15	TogoVar
BDH1_chr3_197504783_197560968	197517232	T T	TCCCCCCT others(46): Show TCCCCCCTCAGGCCGACCCCCGCATCAGTCATTTCCTGCTCTATGGTCTC CATC	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0207 a0001c0001t0207	a0001c0001t0207g0076 a0001c0001t0207g0076	1	319	0.0031	53	c.410 others(70): Show c.410-2869_410-2817dupGATGGAGACCATAGAGCAGGAAATGACT GATGCGGGGGTCGGCCTGAGGGGGG	BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	6/7			chr3	TogoVar
BDH1_chr3_197504783_197560968	197517518	C C	CATCAGTC others(46): Show CATCAGTCACTTCCTGCTCTATGGTCTCCATCCCCCCTCAGGCCGACCCC CCCA	intron_variant intron_variant	MODIFIER	HG00735.hp2 NA20129.hp2 HG00735.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0040 a0001c0001t0001 a0001c0001t0040	a0001c0001t0001g0180 a0001c0001t0040g0009 a0001c0001t0001g0180 a0001c0001t0040g0009	2	319	0.0063	53	c.410 others(70): Show c.410-3103_410-3102insTGGGGGGGTCGGCCTGAGGGGGGATGGA GACCATAGAGCAGGAAGTGACTGAT	BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	6/7			chr3	TogoVar
BDH1_chr3_197504783_197560968	197517833	A A	CATCAGTC others(46): Show CATCAGTCACTTCCTGCTCTATGGTCTCCATCCCCCCTCAGGCCAACCCC CCCG	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0115 a0001c0001t0011g0115	1	319	0.0031	53	c.410 others(66): Show c.410-3417delTinsCGGGGGGGTTGGCCTGAGGGGGGATGGAGACCA TAGAGCAGGAAGTGACTGATG	BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	6/7			chr3	TogoVar
BDH1_chr3_197504783_197560968	197518569	T T	TCCCCCTC others(46): Show TCCCCCTCAGGCTGACCCCCCCAATCAGTCACTTCCTGCTCTATGGTCTC CATC	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0008 a0001c0001t0039g0008	1	319	0.0031	53	c.409 others(70): Show c.409+4018_409+4070dupGATGGAGACCATAGAGCAGGAAGTGACT GATTGGGGGGGTCAGCCTGAGGGGG	BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	6/7			chr3	TogoVar
BDH1_chr3_197504783_197560968	197518786	T T	TCCTCAGG others(46): Show TCCTCAGGCCGACCCCCCCCATCAGTCACTTCCTGCTCTATCGTCTCCAT CCCC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp1 HG00597.hp2 others(95): Show HG00280.hp1 HG00423.hp1 HG00597.hp2 HG00609.hp1 HG00642.hp1 HG00738.hp2 HG01070.hp2 HG01081.hp1 HG01255.hp2 HG01257.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01433.hp2 HG01515.hp1 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02055.hp1 HG02083.hp1 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02257.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02897.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03490.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp2 HG03688.hp2 HG03831.hp1 HG06807.hp1 NA18522.hp1 NA18747.hp2 NA18946.hp1 NA18952.hp1 NA18957.hp1 NA18961.hp2 NA18970.hp2 NA18977.hp1 NA18977.hp2 NA18980.hp1 NA18983.hp2 NA18992.hp1 NA19003.hp1 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19068.hp2 NA19079.hp1 NA19080.hp1 NA19083.hp1 NA19083.hp2 NA19088.hp2 NA19240.hp2 NA20300.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0001c0009 a0002c0005 a0003c0012 a0004c0006	a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 others(78): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0014 a0001c0001t0022 a0001c0001t0023 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0039 a0001c0001t0049 a0001c0001t0054 a0001c0001t0064 a0001c0001t0081 a0001c0001t0082 a0001c0001t0083 a0001c0001t0084 a0001c0001t0085 a0001c0001t0086 a0001c0001t0087 a0001c0001t0088 a0001c0001t0089 a0001c0001t0090 a0001c0001t0091 a0001c0001t0092 a0001c0001t0093 a0001c0001t0094 a0001c0001t0095 a0001c0001t0109 a0001c0001t0112 a0001c0001t0113 a0001c0001t0114 a0001c0001t0116 a0001c0001t0122 a0001c0001t0123 a0001c0001t0124 a0001c0001t0125 a0001c0001t0128 a0001c0001t0129 a0001c0001t0130 a0001c0001t0131 a0001c0001t0133 a0001c0001t0134 a0001c0001t0135 a0001c0001t0136 a0001c0001t0138 a0001c0001t0143 a0001c0001t0145 a0001c0001t0147 a0001c0001t0148 a0001c0001t0150 a0001c0001t0153 a0001c0001t0154 a0001c0001t0155 a0001c0001t0156 a0001c0001t0157 a0001c0001t0170 a0001c0001t0209 a0001c0001t0217 a0001c0001t0233 a0001c0001t0234 a0001c0002t0046 a0001c0002t0047 a0001c0002t0048 a0001c0002t0050 a0001c0002t0051 a0001c0002t0096 a0001c0004t0003 a0001c0004t0008 a0001c0004t0025 a0001c0004t0146 a0001c0004t0151 a0001c0009t0080 a0002c0005t0024 a0003c0012t0097 a0004c0006t0055	a0001c0001t0003g0085 a0001c0001t0003g0092 a0001c0001t0003g0104 others(94): Show a0001c0001t0003g0085 a0001c0001t0003g0092 a0001c0001t0003g0104 a0001c0001t0003g0249 a0001c0001t0006g0272 a0001c0001t0006g0273 a0001c0001t0007g0002 a0001c0001t0007g0107 a0001c0001t0007g0111 a0001c0001t0007g0119 a0001c0001t0008g0046 a0001c0001t0008g0238 a0001c0001t0011g0056 a0001c0001t0011g0117 a0001c0001t0014g0245 a0001c0001t0014g0266 a0001c0001t0014g0267 a0001c0001t0022g0175 a0001c0001t0022g0265 a0001c0001t0023g0025 a0001c0001t0023g0174 a0001c0001t0025g0259 a0001c0001t0026g0268 a0001c0001t0027g0084 a0001c0001t0027g0275 a0001c0001t0028g0034 a0001c0001t0028g0101 a0001c0001t0029g0248 a0001c0001t0030g0263 a0001c0001t0030g0274 a0001c0001t0039g0008 a0001c0001t0049g0021 a0001c0001t0054g0225 a0001c0001t0064g0244 a0001c0001t0081g0109 a0001c0001t0082g0118 a0001c0001t0083g0116 a0001c0001t0084g0110 a0001c0001t0085g0114 a0001c0001t0086g0106 a0001c0001t0087g0305 a0001c0001t0088g0250 a0001c0001t0089g0242 a0001c0001t0090g0241 a0001c0001t0091g0105 a0001c0001t0092g0306 a0001c0001t0093g0108 a0001c0001t0094g0240 a0001c0001t0095g0112 a0001c0001t0109g0040 a0001c0001t0112g0264 a0001c0001t0113g0261 a0001c0001t0114g0218 a0001c0001t0116g0253 a0001c0001t0122g0262 a0001c0001t0123g0256 a0001c0001t0124g0036 a0001c0001t0125g0048 a0001c0001t0128g0234 a0001c0001t0129g0219 a0001c0001t0130g0047 a0001c0001t0131g0239 a0001c0001t0133g0041 a0001c0001t0134g0043 a0001c0001t0135g0223 a0001c0001t0136g0045 a0001c0001t0138g0044 a0001c0001t0143g0038 a0001c0001t0145g0285 a0001c0001t0147g0039 a0001c0001t0148g0270 a0001c0001t0150g0235 a0001c0001t0153g0246 a0001c0001t0154g0222 a0001c0001t0155g0258 a0001c0001t0156g0255 a0001c0001t0157g0227 a0001c0001t0170g0226 a0001c0001t0209g0113 a0001c0001t0217g0271 a0001c0001t0233g0308 a0001c0001t0234g0311 a0001c0002t0046g0012 a0001c0002t0047g0010 a0001c0002t0048g0011 a0001c0002t0050g0015 a0001c0002t0051g0016 a0001c0002t0096g0050 a0001c0004t0003g0062 a0001c0004t0008g0061 a0001c0004t0025g0065 a0001c0004t0146g0063 a0001c0004t0151g0064 a0001c0009t0080g0228 a0002c0005t0024g0042 a0003c0012t0097g0243 a0004c0006t0055g0060	98	319	0.3072	53	c.409 others(70): Show c.409+3853_409+3854insGGGGATGGAGACGATAGAGCAGGAAGTG ACTGATGGGGGGGGTCGGCCTGAGG	BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	6/7			chr3	TogoVar
BDH1_chr3_197504783_197560968	197518786	T T	TTCTCAGG others(46): Show TTCTCAGGCCGACCCCCCCCATCAGTCACTTCCTGCTCTATCATCTCCAT CCCC	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0293 a0001c0001t0002g0293	1	319	0.0031	53	c.409 others(70): Show c.409+3853_409+3854insGGGGATGGAGATGATAGAGCAGGAAGTG ACTGATGGGGGGGGTCGGCCTGAGA	BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	6/7			chr3	TogoVar
BDH1_chr3_197504783_197560968	197518786	T T	TTCTCAGG others(46): Show TTCTCAGGCCGACCCCCCCCATCAGTCACTTCCTGCTCTATCGTCTCCAT CCCC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02071.hp1 HG02074.hp2 others(15): Show HG00438.hp1 HG02071.hp1 HG02074.hp2 HG02080.hp1 HG02647.hp1 HG02738.hp1 HG03654.hp2 NA18942.hp2 NA18945.hp2 NA18955.hp1 NA18964.hp1 NA18966.hp1 NA18973.hp2 NA18981.hp1 NA19010.hp2 NA19064.hp1 NA19080.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(7): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0057 a0001c0001t0164 a0001c0001t0166 a0001c0001t0196 a0001c0001t0201 a0001c0001t0202 a0001c0001t0213	a0001c0001t0002g0073 a0001c0001t0002g0122 a0001c0001t0002g0163 others(15): Show a0001c0001t0002g0073 a0001c0001t0002g0122 a0001c0001t0002g0163 a0001c0001t0002g0165 a0001c0001t0002g0289 a0001c0001t0004g0075 a0001c0001t0004g0078 a0001c0001t0004g0079 a0001c0001t0004g0081 a0001c0001t0005g0077 a0001c0001t0005g0082 a0001c0001t0057g0096 a0001c0001t0164g0121 a0001c0001t0166g0120 a0001c0001t0196g0083 a0001c0001t0201g0290 a0001c0001t0202g0192 a0001c0001t0213g0080	18	319	0.0564	53	c.409 others(70): Show c.409+3853_409+3854insGGGGATGGAGACGATAGAGCAGGAAGTG ACTGATGGGGGGGGTCGGCCTGAGA	BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	6/7			chr3	TogoVar
BICD1_chr12_32101847_32388633	32252002	T T	TATATATT others(46): Show TATATATTTATAATAAATATCATATATTTATAATATATATTTATAATAAA TATC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0157 a0001c0001t0006g0157	1	290	0.0035	53	c.426 others(72): Show c.426+35595_426+35596insCATATATTTATAATAAATATCATATA TTTATAATATATATTTATAATAAATAT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BMAL1_chr11_13272790_13392266	13288416	T T	TTCTTTCT others(46): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTC TTTC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0290 a0001c0001t0001g0290	1	314	0.0032	53	c.-26 others(74): Show c.-263+10494_-263+10495insCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTCTTTCTTTCT	BMAL1	ENSG00000133794.20	transcript	ENST00000403290.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BPI_chr20_38299156_38342505	38314069	T T	TGATGATG others(46): Show TGATGATGATGATGGTGATGGGATGATGATGGTGGTGATGGTAATGGTGG GGAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00597.hp2 HG00621.hp1 others(64): Show HG00438.hp1 HG00597.hp2 HG00621.hp1 HG00673.hp1 HG00673.hp2 HG00741.hp1 HG01243.hp2 HG01891.hp1 HG01928.hp1 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG02015.hp1 HG02083.hp1 HG02109.hp1 HG02132.hp1 HG02165.hp1 HG02280.hp1 HG02293.hp1 HG02451.hp1 HG02486.hp2 HG02630.hp2 HG02647.hp1 HG02717.hp2 HG02886.hp1 HG02965.hp1 HG02965.hp2 HG03017.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03453.hp2 HG03471.hp2 HG03516.hp1 HG03654.hp1 HG03704.hp1 HG03710.hp1 NA18906.hp1 NA18940.hp2 NA18942.hp1 NA18943.hp2 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18956.hp1 NA18969.hp2 NA18972.hp2 NA18978.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp2 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA19003.hp2 NA19005.hp2 NA19030.hp2 NA19056.hp2 NA19063.hp2 NA19074.hp2 NA19076.hp2 NA19081.hp2 NA19085.hp1 NA20300.hp1 NA20905.hp1 NA21309.hp1	a0001 a0004 a0005 others(11): Show a0001 a0004 a0005 a0008 a0010 a0013 a0014 a0020 a0021 a0022 a0023 a0026 a0029 a0033	a0001c0001 a0004c0004 a0004c0032 others(14): Show a0001c0001 a0004c0004 a0004c0032 a0005c0006 a0008c0008 a0010c0010 a0013c0014 a0014c0016 a0020c0021 a0021c0036 a0021c0037 a0022c0024 a0023c0028 a0026c0048 a0026c0049 a0029c0038 a0033c0047	a0001c0001t0006 a0004c0004t0001 a0004c0004t0002 others(20): Show a0001c0001t0006 a0004c0004t0001 a0004c0004t0002 a0004c0004t0003 a0004c0032t0003 a0005c0006t0001 a0008c0008t0001 a0010c0010t0001 a0010c0010t0002 a0010c0010t0003 a0013c0014t0001 a0013c0014t0005 a0014c0016t0001 a0014c0016t0002 a0020c0021t0002 a0021c0036t0001 a0021c0037t0001 a0022c0024t0001 a0023c0028t0003 a0026c0048t0001 a0026c0049t0001 a0029c0038t0002 a0033c0047t0002	a0001c0001t0006g0289 a0004c0004t0001g0007 a0004c0004t0001g0016 others(56): Show a0001c0001t0006g0289 a0004c0004t0001g0007 a0004c0004t0001g0016 a0004c0004t0001g0046 a0004c0004t0001g0053 a0004c0004t0001g0090 a0004c0004t0001g0096 a0004c0004t0001g0099 a0004c0004t0001g0165 a0004c0004t0001g0225 a0004c0004t0002g0025 a0004c0004t0002g0048 a0004c0004t0002g0051 a0004c0004t0002g0226 a0004c0004t0002g0265 a0004c0004t0002g0304 a0004c0004t0003g0006 a0004c0004t0003g0015 a0004c0004t0003g0047 a0004c0004t0003g0049 a0004c0004t0003g0050 a0004c0004t0003g0228 a0004c0004t0003g0230 a0004c0032t0003g0305 a0005c0006t0001g0153 a0008c0008t0001g0229 a0010c0010t0001g0162 a0010c0010t0001g0279 a0010c0010t0002g0030 a0010c0010t0002g0161 a0010c0010t0002g0163 a0010c0010t0002g0167 a0010c0010t0002g0271 a0010c0010t0002g0277 a0010c0010t0002g0278 a0010c0010t0002g0281 a0010c0010t0002g0340 a0010c0010t0003g0284 a0013c0014t0001g0260 a0013c0014t0001g0261 a0013c0014t0001g0338 a0013c0014t0005g0154 a0014c0016t0001g0166 a0014c0016t0001g0276 a0014c0016t0002g0040 a0014c0016t0002g0280 a0020c0021t0002g0097 a0020c0021t0002g0098 a0020c0021t0002g0100 a0021c0036t0001g0227 a0021c0037t0001g0224 a0022c0024t0001g0258 a0022c0024t0001g0259 a0023c0028t0003g0006 a0023c0028t0003g0164 a0026c0048t0001g0158 a0026c0049t0001g0302 a0029c0038t0002g0202 a0033c0047t0002g0303	67	426	0.1573	53	c.600 others(70): Show c.600+2146_600+2198dupGTGATGGGATGATGATGGTGGTGATGGT AATGGTGGGGAAGATGATGATGATG	BPI	ENSG00000101425.14	transcript	ENST00000642449.2	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr20	TogoVar
BPTF_chr17_67820503_67989378	67917131	C C	CTTTTTTT others(46): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0239 a0002c0002t0002g0239	1	274	0.0037	53	c.530 others(72): Show c.5304-1564_5304-1563insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTT	BPTF	ENSG00000171634.19	transcript	ENST00000306378.11	protein_coding	11/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
BRF1_chr14_105204286_105306001	105276296	C C	CGGCCCTC others(46): Show CGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTGAGAAGGAGCCGAG AGGG	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0004 a0001c0002t0005g0004	1	72	0.0139	53	c.266 others(70): Show c.266-3403_266-3402insCCCTCTCGGCTCCTTCTCACTGTGGCCT CCTCCCCAGCTCTCTAGTGAGGGCC	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	2/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105276296	C C	CGGCCCTC others(46): Show CGGCCCTCACTAGGGAGCTGGGGAGGAGGCCACAGTGAGAAGGAGCTGAG AGGG	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	72	0.0139	53	c.266 others(70): Show c.266-3403_266-3402insCCCTCTCAGCTCCTTCTCACTGTGGCCT CCTCCCCAGCTCCCTAGTGAGGGCC	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	2/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105276402	G G	GGGCCCTC others(46): Show GGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTGAGAAGGAGCCGAG AGGC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0048 a0001c0001t0002g0048	1	72	0.0139	53	c.266 others(70): Show c.266-3561_266-3509dupGCCTCTCGGCTCCTTCTCACTGTGGCCT CCTCCCCAGCTCTCTAGTGAGGGCC	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	2/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105276448	C C	CGAGAGGG others(46): Show CGAGAGGGGGCCCTCACTAGGGAGCTGGGGAGGAGGCCACAGTGAGAAGG AGCT	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	72	0.0139	53	c.266 others(70): Show c.266-3555_266-3554insAGCTCCTTCTCACTGTGGCCTCCTCCCC AGCTCCCTAGTGAGGGCCCCCTCTC	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	2/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105276455	C C	CGGCCCTC others(46): Show CGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTGAGAAGGAGCTGAG AGGG	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0004 a0001c0002t0005g0004	1	72	0.0139	53	c.266 others(70): Show c.266-3562_266-3561insCCCTCTCAGCTCCTTCTCACTGTGGCCT CCTCCCCAGCTCTCTAGTGAGGGCC	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	2/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105276501	C C	CGAGAGGC others(46): Show CGAGAGGCGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTGAGAAGG AGCT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0057 a0001c0001t0002g0057	1	72	0.0139	53	c.266 others(70): Show c.266-3608_266-3607insAGCTCCTTCTCACTGTGGCCTCCTCCCC AGCTCTCTAGTGAGGGCCGCCTCTC	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	2/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105276819	C C	CGAGAGGC others(46): Show CGAGAGGCGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTGAGAAGG AGCT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0041 a0001c0001t0002g0041	1	72	0.0139	53	c.266 others(70): Show c.266-3926_266-3925insAGCTCCTTCTCACTGTGGCCTCCTCCCC AGCTCTCTAGTGAGGGCCGCCTCTC	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	2/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105276826	C C	CGGCCCTC others(46): Show CGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTGAGAAGGAGCCGAG AGGG	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02129.hp2 HG03471.hp2 HG01361.hp1 HG02129.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0005 a0001c0001t0001 a0001c0002t0005	a0001c0001t0001g0003 a0001c0001t0001g0025 a0001c0002t0005g0004 a0001c0001t0001g0003 a0001c0001t0001g0025 a0001c0002t0005g0004	3	72	0.0417	53	c.266 others(70): Show c.266-3933_266-3932insCCCTCTCGGCTCCTTCTCACTGTGGCCT CCTCCCCAGCTCTCTAGTGAGGGCC	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	2/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105276879	C C	CGGCCCTC others(46): Show CGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTGAGAAGGAGCCGAG AGGG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0067 a0001c0001t0002g0067	1	72	0.0139	53	c.266 others(70): Show c.266-4038_266-3986dupCCCTCTCGGCTCCTTCTCACTGTGGCCT CCTCCCCAGCTCTCTAGTGAGGGCC	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	2/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105276932	G G	GGGCCCTC others(46): Show GGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTGAGAAGGAGCCGAG AGGC	intron_variant intron_variant	MODIFIER	HG01361.hp1 homoSapiens_chm13v2.hp1 HG01361.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0044 a0001c0001t0001g0003 a0001c0001t0001g0044	2	72	0.0278	53	c.266 others(70): Show c.266-4039_266-4038insGCCTCTCGGCTCCTTCTCACTGTGGCCT CCTCCCCAGCTCTCTAGTGAGGGCC	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	2/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105277031	C C	CGAGAGGC others(46): Show CGAGAGGCGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTGAGAAGG AGCT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0004 a0001c0002t0005g0004	1	72	0.0139	53	c.266 others(70): Show c.266-4138_266-4137insAGCTCCTTCTCACTGTGGCCTCCTCCCC AGCTCTCTAGTGAGGGCCGCCTCTC	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	2/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105277210	A A	AGAGCTGG others(46): Show AGAGCTGGGGAGGAGGCCACAGTGAGAAGGAGCCGAGAGGGGGCCCTCAC TAGG	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	72	0.0139	53	c.266 others(70): Show c.266-4317_266-4316insCCTAGTGAGGGCCCCCTCTCGGCTCCTT CTCACTGTGGCCTCCTCCCCAGCTC	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	2/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105277303	C C	CGGCCCTC others(46): Show CGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTGAGAAGGAGCCGAG AGGG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0067 a0001c0001t0002g0067	1	72	0.0139	53	c.266 others(70): Show c.266-4410_266-4409insCCCTCTCGGCTCCTTCTCACTGTGGCCT CCTCCCCAGCTCTCTAGTGAGGGCC	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	2/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105277462	G G	GGGCCCTC others(46): Show GGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTGAGAAGGAGCCGAG AGGC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0034 a0001c0001t0003g0034	1	72	0.0139	53	c.266 others(70): Show c.266-4569_266-4568insGCCTCTCGGCTCCTTCTCACTGTGGCCT CCTCCCCAGCTCTCTAGTGAGGGCC	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	2/17			chr14	TogoVar
BSG_chr19_567596_588493	570678	T T	TGTGGGGA others(46): Show TGTGGGGAGGGGGCGGAGGGGTGAGTGGGGAGGGGTGGAGGGGTGGGTGG AAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0144 a0001c0001t0003g0144	1	306	0.0033	53	c.-19 others(64): Show c.-1957_-1956insGTGGGGAGGGGGCGGAGGGGTGAGTGGGGAGGGG TGGAGGGGTGGGTGGAAGG	BSG	ENSG00000172270.22	transcript	ENST00000333511.9	protein_coding		1917		chr19	TogoVar
BSG_chr19_567596_588493	570681	G G	GGGAGGGG others(46): Show GGGAGGGGGCGGAGGGGTGAGTGGGGGAGGGGTGGAGGGGTGGGTGGAAG GGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00558.hp2 others(68): Show HG00408.hp2 HG00423.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00735.hp1 HG00738.hp2 HG01069.hp1 HG01175.hp1 HG01243.hp1 HG01255.hp1 HG01358.hp2 HG01517.hp1 HG01934.hp2 HG01943.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02040.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp2 HG02109.hp1 HG02148.hp1 HG02273.hp2 HG02293.hp2 HG02300.hp1 HG02735.hp2 HG02738.hp2 HG02965.hp1 HG03017.hp2 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp2 HG03710.hp2 HG03834.hp2 HG03927.hp2 NA18747.hp2 NA18943.hp1 NA18945.hp1 NA18945.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18964.hp2 NA18980.hp1 NA18982.hp1 NA18983.hp1 NA18990.hp2 NA18994.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19011.hp2 NA19043.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19074.hp2 NA19085.hp2 NA19088.hp2 NA19090.hp2 NA20905.hp1	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0007 a0009	a0001c0001 a0001c0002 a0001c0010 others(6): Show a0001c0001 a0001c0002 a0001c0010 a0001c0013 a0001c0018 a0002c0005 a0005c0007 a0007c0014 a0009c0012	a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 others(10): Show a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 a0001c0002t0012 a0001c0002t0016 a0001c0010t0001 a0001c0013t0001 a0001c0018t0001 a0002c0005t0001 a0005c0007t0001 a0007c0014t0001 a0009c0012t0001	a0001c0001t0002g0002 a0001c0001t0003g0014 a0001c0001t0003g0099 others(42): Show a0001c0001t0002g0002 a0001c0001t0003g0014 a0001c0001t0003g0099 a0001c0002t0001g0001 a0001c0002t0001g0006 a0001c0002t0001g0010 a0001c0002t0001g0012 a0001c0002t0001g0016 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0032 a0001c0002t0001g0042 a0001c0002t0001g0044 a0001c0002t0001g0047 a0001c0002t0001g0089 a0001c0002t0001g0094 a0001c0002t0001g0106 a0001c0002t0001g0107 a0001c0002t0001g0110 a0001c0002t0001g0113 a0001c0002t0001g0114 a0001c0002t0001g0115 a0001c0002t0001g0117 a0001c0002t0001g0120 a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0001g0150 a0001c0002t0001g0152 a0001c0002t0001g0153 a0001c0002t0001g0168 a0001c0002t0002g0108 a0001c0002t0012g0001 a0001c0002t0016g0122 a0001c0010t0001g0084 a0001c0013t0001g0001 a0001c0018t0001g0133 a0002c0005t0001g0116 a0005c0007t0001g0010 a0007c0014t0001g0119 a0009c0012t0001g0148	71	306	0.2320	53	c.-19 others(64): Show c.-1954_-1953insGGAGGGGGCGGAGGGGTGAGTGGGGGAGGGGTGG AGGGGTGGGTGGAAGGGGC	BSG	ENSG00000172270.22	transcript	ENST00000333511.9	protein_coding		1914		chr19	TogoVar
BUB3_chr10_123149402_123175467	123166424	C C	CAAAAAAA others(46): Show CAAAAAAAAAAAAATAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAA AAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0053	a0001c0001t0053g0001 a0001c0001t0053g0001	1	418	0.0024	53	c.25 others(64): Show c.2589_*2590insAAAAAAAAAAAAATAAAAAAAAAAAAAAAAATAA AAAAAAAAAAAAAAAAAAA	BUB3	ENSG00000154473.18	transcript	ENST00000368865.9	protein_coding	8/8	2590		chr10	TogoVar
C10orf90_chr10_126419997_126675693	126565190	T T	TTATATTA others(46): Show TTATATTACATATTATGTAATATAATATTATATTACATAATATGTAATAT AATA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01168.hp2 HG02602.hp1 others(2): Show HG01070.hp2 HG01168.hp2 HG02602.hp1 HG03471.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0002c0004 a0001c0001 a0002c0003 a0002c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0002c0003t0001 a0002c0004t0003	a0001c0001t0001g0046 a0001c0001t0003g0075 a0001c0001t0004g0203 others(2): Show a0001c0001t0001g0046 a0001c0001t0003g0075 a0001c0001t0004g0203 a0002c0003t0001g0200 a0002c0004t0003g0026	5	218	0.0229	53	c.314 others(72): Show c.314-51252_314-51251insTATTATATTACATATTATGTAATATA ATATTATATTACATAATATGTAATATA	C10orf90	ENSG00000154493.20	transcript	ENST00000488181.3	protein_coding	2/9			chr10	TogoVar
C17orf78_chr17_37370985_37397708	37381854	C C	CATTCTTG others(46): Show CATTCTTGCTGTCCTAGGTTGCTGTATTCACGTGTGGCCAGGATGGTCTT GACG	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	441	0.0023	53	c.391 others(70): Show c.391+2472_391+2473insATTCTTGCTGTCCTAGGTTGCTGTATTC ACGTGTGGCCAGGATGGTCTTGACG	C17orf78	ENSG00000278505.5	transcript	ENST00000615133.2	protein_coding	3/6			chr17	TogoVar
C17orf78_chr17_37370985_37397708	37390294	T T	TAATATAT others(46): Show TAATATATTATATATAATTATATATTATACATAATTTTATATATATATAT ATTA	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0211 a0003c0003t0001g0211	1	441	0.0023	53	c.750 others(68): Show c.750+932_750+933insAATATATTATATATAATTATATATTATACA TAATTTTATATATATATATATTA	C17orf78	ENSG00000278505.5	transcript	ENST00000615133.2	protein_coding	6/6			chr17	TogoVar
C1orf21_chr1_184382029_184634019	184410622	T T	TATATATA others(46): Show TATATATATTATATATATATTATATATATATAATATATATATAATATATA TATA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0140 a0001c0001t0002g0140	1	232	0.0043	53	c.-12 others(74): Show c.-125+23262_-125+23263insTATATATATATTATATATATATAA TATATATATAATATATATATAATATATAT	C1orf21	ENSG00000116667.15	transcript	ENST00000235307.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
C1orf21_chr1_184382029_184634019	184410622	T T	TATATATT others(46): Show TATATATTATATATATATTATATATATATAATATATATATATAATATATA TATA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0066 a0001c0001t0066	a0001c0001t0066g0198 a0001c0001t0066g0198	1	232	0.0043	53	c.-12 others(74): Show c.-125+23260_-125+23261insTATATATATATTATATATATATAA TATATATATATAATATATATATAATATAT	C1orf21	ENSG00000116667.15	transcript	ENST00000235307.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
C1orf21_chr1_184382029_184634019	184410624	T T	TATATATT others(46): Show TATATATTATATATATATTATATATATATAATATATATATATAATATATA TATA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02280.hp1 HG02451.hp1 others(15): Show HG01109.hp1 HG02280.hp1 HG02451.hp1 HG02486.hp2 HG02647.hp1 HG02976.hp1 HG03098.hp2 HG03130.hp2 HG03209.hp2 HG03225.hp1 HG03490.hp1 HG03492.hp1 HG03579.hp1 HG03688.hp1 HG04199.hp1 NA18952.hp1 NA19240.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(5): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0033 a0001c0001t0052	a0001c0001t0001g0179 a0001c0001t0001g0191 a0001c0001t0001g0201 others(15): Show a0001c0001t0001g0179 a0001c0001t0001g0191 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0211 a0001c0001t0005g0189 a0001c0001t0005g0210 a0001c0001t0006g0199 a0001c0001t0007g0194 a0001c0001t0007g0212 a0001c0001t0007g0213 a0001c0001t0008g0177 a0001c0001t0008g0200 a0001c0001t0008g0205 a0001c0001t0011g0187 a0001c0001t0011g0188 a0001c0001t0033g0196 a0001c0001t0052g0206	18	232	0.0776	53	c.-12 others(74): Show c.-125+23262_-125+23263insTATATATATATTATATATATATAA TATATATATATAATATATATATAATATAT	C1orf21	ENSG00000116667.15	transcript	ENST00000235307.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
C1orf87_chr1_59985394_60078770	60065013	T T	TATTTAAT others(46): Show TATTTAATATATAAAATATATATTAAATATATTATTATTTATATATATAT ATTA	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0084 a0001c0004t0001g0084	1	382	0.0026	53	c.107 others(70): Show c.107+7523_107+7524insTAATATATATATATAAATAATAATATAT TTAATATATATTTTATATATTAAAT	C1orf87	ENSG00000162598.13	transcript	ENST00000371201.3	protein_coding	2/11			chr1	TogoVar

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