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
ROBO1_chr3_78592239_79772998	79619101	T T	TGCAGGGA others(46): Show TGCAGGGACGCCTGCCCTGATCATTCACCCACATTCCACTGGTGTCTGAT CATC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01243.hp2 HG01884.hp1 others(9): Show HG01109.hp1 HG01243.hp2 HG01884.hp1 HG01978.hp2 HG02055.hp2 HG02717.hp1 HG03130.hp1 HG03139.hp1 HG03471.hp1 HG03490.hp2 NA18906.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0007 a0001c0008	a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 others(8): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0012 a0001c0002t0001 a0001c0002t0016 a0001c0003t0002 a0001c0005t0002 a0001c0005t0005 a0001c0007t0003 a0001c0008t0015	a0001c0001t0003g0036 a0001c0001t0005g0035 a0001c0001t0008g0024 others(9): Show a0001c0001t0003g0036 a0001c0001t0005g0035 a0001c0001t0008g0024 a0001c0001t0012g0027 a0001c0002t0001g0028 a0001c0002t0016g0044 a0001c0003t0002g0033 a0001c0005t0002g0029 a0001c0005t0002g0030 a0001c0005t0005g0004 a0001c0007t0003g0003 a0001c0008t0015g0043	12	44	0.2727	53	c.-50 others(72): Show c.-50-29141_-50-29140insGATGATCAGACACCAGTGGAATGTGG GTGAATGATCAGGGCAGGCGTCCCTGC	ROBO1	ENSG00000169855.21	transcript	ENST00000464233.6	protein_coding	1/30			chr3	TogoVar
ROBO1_chr3_78592239_79772998	79619101	T T	TGCGGGGA others(46): Show TGCGGGGACGGCTGCCCTGATCATTCACCCACATTCCACTGGTGTCTGAT CATC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01243.hp1 HG01884.hp2 others(29): Show HG01109.hp2 HG01243.hp1 HG01884.hp2 HG01978.hp1 HG02055.hp1 HG02109.hp1 HG02109.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02717.hp2 HG02922.hp1 HG02922.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03579.hp1 HG03579.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0008 a0001c0011 a0002c0004 a0003c0006 a0003c0009 a0004c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0013 a0001c0003t0001 a0001c0003t0006 a0001c0007t0003 a0001c0008t0003 a0001c0011t0001 a0002c0004t0001 a0002c0004t0007 a0003c0006t0006 a0003c0009t0017 a0004c0010t0002	a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 others(29): Show a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0002g0007 a0001c0001t0002g0039 a0001c0001t0005g0005 a0001c0001t0009g0006 a0001c0001t0010g0034 a0001c0001t0011g0025 a0001c0001t0014g0041 a0001c0002t0001g0020 a0001c0002t0001g0026 a0001c0002t0003g0016 a0001c0002t0004g0001 a0001c0002t0004g0002 a0001c0002t0004g0017 a0001c0002t0004g0021 a0001c0002t0013g0008 a0001c0003t0001g0023 a0001c0003t0006g0018 a0001c0007t0003g0032 a0001c0008t0003g0037 a0001c0011t0001g0038 a0002c0004t0001g0015 a0002c0004t0007g0009 a0002c0004t0007g0010 a0003c0006t0006g0011 a0003c0006t0006g0040 a0003c0009t0017g0042 a0004c0010t0002g0031	32	44	0.7273	53	c.-50 others(72): Show c.-50-29141_-50-29140insGATGATCAGACACCAGTGGAATGTGG GTGAATGATCAGGGCAGCCGTCCCCGC	ROBO1	ENSG00000169855.21	transcript	ENST00000464233.6	protein_coding	1/30			chr3	TogoVar
ROBO2_chr3_77035099_77654964	77289559	A A	AGTTAAAC others(46): Show AGTTAAACGGGTAAGCTGAGGCTAGATCACCAAAGACATAAAGTAAAATT GACG	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0130 a0001c0002t0001g0130	1	160	0.0063	53	c.389 others(74): Show c.389-187805_389-187753dupGACGGTTAAACGGGTAAGCTGAGG CTAGATCACCAAAGACATAAAGTAAAATT	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ROBO2_chr3_77035099_77654964	77291176	A A	AAGACATA others(46): Show AAGACATAAAGTAAAATTGACGGTTAAACGGGTAAGCTGAGGCTAGATCA CCCC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0053 a0001c0001t0011g0053	1	160	0.0063	53	c.389 others(74): Show c.389-186219_389-186218insCGGTTAAACGGGTAAGCTGAGGCT AGATCACCCCAGACATAAAGTAAAATTGA	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ROBO2_chr3_77035099_77654964	77291259	G G	GGTAAGCT others(46): Show GGTAAGCTGAGGCTAGATCACCCCAGACATAAAGTAAAATTGATCGTTAA ACGA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0085 a0001c0002t0017g0085	1	160	0.0063	53	c.389 others(74): Show c.389-186122_389-186121insTAAAATTGATCGTTAAACGAGTAA GCTGAGGCTAGATCACCCCAGACATAAAG	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ROBO2_chr3_77035099_77654964	77294296	G G	GTAAAATT others(46): Show GTAAAATTGACGGTTAAACGGGTAAGCTGAGGCTAGATCACCAAAGACAT AAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00597.hp1 HG00597.hp2 others(64): Show HG00140.hp2 HG00597.hp1 HG00597.hp2 HG00642.hp1 HG01081.hp2 HG01123.hp1 HG01243.hp2 HG01361.hp1 HG01516.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02083.hp2 HG02145.hp1 HG02451.hp1 HG02559.hp2 HG02622.hp1 HG02622.hp2 HG02717.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG03098.hp2 HG03209.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03486.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03710.hp2 HG04228.hp2 HG06807.hp2 NA18948.hp1 NA18948.hp2 NA18957.hp1 NA18959.hp1 NA18960.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18973.hp1 NA19000.hp1 NA19005.hp1 NA19005.hp2 NA19011.hp1 NA19012.hp1 NA19030.hp2 NA19056.hp1 NA19060.hp1 NA19062.hp1 NA19070.hp2 NA19077.hp1 NA19079.hp1 NA20300.hp1 NA20300.hp2	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0006 a0008 a0009	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0002c0004 a0002c0011 a0004c0014 a0006c0012 a0008c0009 a0009c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(30): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0013 a0001c0001t0020 a0001c0001t0025 a0001c0001t0027 a0001c0001t0028 a0001c0001t0034 a0001c0001t0038 a0001c0001t0041 a0001c0002t0001 a0001c0002t0002 a0001c0002t0007 a0001c0002t0008 a0001c0002t0011 a0001c0002t0014 a0001c0002t0023 a0001c0003t0007 a0001c0005t0012 a0001c0005t0018 a0002c0004t0001 a0002c0004t0002 a0002c0011t0002 a0004c0014t0004 a0006c0012t0033 a0008c0009t0002 a0009c0007t0002	a0001c0001t0001g0017 a0001c0001t0001g0069 a0001c0001t0001g0074 others(64): Show a0001c0001t0001g0017 a0001c0001t0001g0069 a0001c0001t0001g0074 a0001c0001t0002g0065 a0001c0001t0002g0103 a0001c0001t0003g0006 a0001c0001t0003g0014 a0001c0001t0003g0029 a0001c0001t0003g0101 a0001c0001t0003g0120 a0001c0001t0003g0142 a0001c0001t0004g0067 a0001c0001t0004g0070 a0001c0001t0004g0121 a0001c0001t0004g0123 a0001c0001t0004g0133 a0001c0001t0005g0044 a0001c0001t0005g0071 a0001c0001t0005g0095 a0001c0001t0005g0129 a0001c0001t0005g0145 a0001c0001t0005g0159 a0001c0001t0006g0015 a0001c0001t0006g0034 a0001c0001t0006g0152 a0001c0001t0007g0158 a0001c0001t0009g0089 a0001c0001t0009g0093 a0001c0001t0009g0119 a0001c0001t0013g0098 a0001c0001t0020g0009 a0001c0001t0025g0078 a0001c0001t0027g0096 a0001c0001t0028g0084 a0001c0001t0034g0122 a0001c0001t0038g0052 a0001c0001t0041g0054 a0001c0002t0001g0020 a0001c0002t0001g0036 a0001c0002t0001g0039 a0001c0002t0001g0099 a0001c0002t0001g0130 a0001c0002t0001g0134 a0001c0002t0001g0146 a0001c0002t0001g0151 a0001c0002t0002g0027 a0001c0002t0002g0079 a0001c0002t0002g0094 a0001c0002t0002g0105 a0001c0002t0002g0143 a0001c0002t0007g0157 a0001c0002t0008g0125 a0001c0002t0011g0047 a0001c0002t0014g0003 a0001c0002t0023g0033 a0001c0003t0007g0113 a0001c0003t0007g0115 a0001c0003t0007g0117 a0001c0005t0012g0114 a0001c0005t0018g0086 a0002c0004t0001g0136 a0002c0004t0002g0108 a0002c0011t0002g0080 a0004c0014t0004g0059 a0006c0012t0033g0018 a0008c0009t0002g0083 a0009c0007t0002g0088	67	160	0.4188	53	c.389 others(74): Show c.389-183066_389-183065insATAAAATTGACGGTTAAACGGGTA AGCTGAGGCTAGATCACCAAAGACATAAA	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ROBO2_chr3_77035099_77654964	77294296	G G	GTAAAATT others(46): Show GTAAAATTGACTGTTAAACGGGTAAGCTGAGGCTAGATCACCAAAGACAT AAAA	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp2 HG01256.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0040 a0001c0001t0029 a0001c0001t0040	a0001c0001t0029g0042 a0001c0001t0040g0057 a0001c0001t0029g0042 a0001c0001t0040g0057	2	160	0.0125	53	c.389 others(74): Show c.389-183108_389-183107insTGTTAAACGGGTAAGCTGAGGCTA GATCACCAAAGACATAAAATAAAATTGAC	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ROBO2_chr3_77035099_77654964	77294601	C C	CCCAGACA others(46): Show CCCAGACATAAAGTAGAATTGATGTTTAAATGGGTAAGCTGAGGCTAGAG CACT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01243.hp1 NA19043.hp1 HG01106.hp1 HG01243.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0011 a0001c0001t0037 a0001c0002t0017 a0001c0001t0011 a0001c0001t0037 a0001c0002t0017	a0001c0001t0011g0053 a0001c0001t0037g0011 a0001c0002t0017g0085 a0001c0001t0011g0053 a0001c0001t0037g0011 a0001c0002t0017g0085	3	160	0.0188	53	c.389 others(74): Show c.389-182813_389-182812insCCAGACATAAAGTAGAATTGATGT TTAAATGGGTAAGCTGAGGCTAGAGCACT	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27			chr3	TogoVar
ROBO2_chr3_77035099_77654964	77417413	A A	AATTTACT others(46): Show AATTTACTTGAAGATACCCTTTTCTTTCATATATGCCCAGTGGAAAATGA TAAT	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0064 a0001c0002t0001g0064	1	160	0.0063	53	c.389 others(72): Show c.389-59999_389-59947dupTTTACTTGAAGATACCCTTTTCTTTC ATATATGCCCAGTGGAAAATGATAATA	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ROCK1_chr18_20941906_21116813	20958988	A A	ATAATATA others(46): Show ATAATATATATAATATATATATTTTATATAATATATATAATATATATATT TTAT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0026 a0001c0001t0004g0026	1	212	0.0047	53	c.351 others(70): Show c.3512+851_3512+852insATAAAATATATATATTATATATATTATA TAAAATATATATATTATATATATTA	ROCK1	ENSG00000067900.9	transcript	ENST00000399799.3	protein_coding	29/32			chr18	TogoVar
RPA2_chr1_27886524_27919575	27916993	T T	TTCCTCCT others(46): Show TTCCTCCTTCCTCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTTCC TTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02895.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0046 a0001c0001t0002g0122 a0001c0001t0002g0046 a0001c0001t0002g0122	2	364	0.0055	53	c.-25 others(64): Show c.-2551_-2550insGGAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGG AAGGAAGGAGGAAGGAGGA	RPA2	ENSG00000117748.10	transcript	ENST00000373912.8	protein_coding		2419		chr1	TogoVar
RPH3AL_chr17_207389_357807	242557	A A	ACCCTTCC others(46): Show ACCCTTCCTCTATTGATTACCTTCCTCTATTGATTACCTTCCTCTATTGA TTAC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0099 a0001c0001t0017g0099	1	133	0.0075	53	c.613 others(70): Show c.613+4553_613+4554insGTAATCAATAGAGGAAGGTAATCAATAG AGGAAGGTAATCAATAGAGGAAGGG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPTOR_chr17_80539838_80971368	80951097	G G	GGGGTCCC others(46): Show GGGGTCCCTGAGACCCCCCAGAAGCATCCACACGTCCACACCCGGCTGGC CCCA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01884.hp1 HG01884.hp2 others(21): Show HG01074.hp1 HG01884.hp1 HG01884.hp2 HG02055.hp1 HG02109.hp1 HG02109.hp2 HG02145.hp2 HG02280.hp2 HG02647.hp2 HG02723.hp2 HG02886.hp1 HG02886.hp2 HG02897.hp1 HG02922.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03239.hp1 NA18906.hp1 NA18906.hp2 NA19030.hp2 NA19043.hp2 NA20300.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0007 a0001c0009 a0001c0011 others(14): Show a0001c0007 a0001c0009 a0001c0011 a0001c0039 a0001c0047 a0001c0057 a0001c0059 a0001c0064 a0001c0067 a0001c0070 a0001c0072 a0001c0075 a0001c0083 a0001c0088 a0001c0089 a0002c0063 a0005c0092	a0001c0007t0030 a0001c0007t0069 a0001c0007t0084 others(20): Show a0001c0007t0030 a0001c0007t0069 a0001c0007t0084 a0001c0007t0090 a0001c0009t0006 a0001c0009t0012 a0001c0009t0028 a0001c0009t0078 a0001c0011t0047 a0001c0039t0061 a0001c0047t0012 a0001c0057t0077 a0001c0059t0080 a0001c0064t0006 a0001c0067t0068 a0001c0070t0020 a0001c0072t0006 a0001c0075t0012 a0001c0083t0028 a0001c0088t0007 a0001c0089t0006 a0002c0063t0020 a0005c0092t0012	a0001c0007t0030g0018 a0001c0007t0030g0020 a0001c0007t0069g0128 others(21): Show a0001c0007t0030g0018 a0001c0007t0030g0020 a0001c0007t0069g0128 a0001c0007t0084g0007 a0001c0007t0090g0025 a0001c0009t0006g0142 a0001c0009t0012g0103 a0001c0009t0028g0113 a0001c0009t0078g0021 a0001c0011t0047g0076 a0001c0039t0061g0177 a0001c0047t0012g0150 a0001c0057t0077g0016 a0001c0059t0080g0006 a0001c0064t0006g0106 a0001c0067t0068g0110 a0001c0070t0020g0003 a0001c0072t0006g0108 a0001c0075t0012g0127 a0001c0083t0028g0158 a0001c0088t0007g0141 a0001c0089t0006g0159 a0002c0063t0020g0001 a0005c0092t0012g0163	24	196	0.1225	53	c.337 others(72): Show c.3370+1568_3370+1569insAGAAGCATCCACACGTCCACACCCGG CTGGCCCCAGGGTCCCTGAGACCCCCC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	28/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80951116	G G	GGAAGCAT others(46): Show GGAAGCATCCACACGTCCACACCCGGCTGGCCCCAGGGTCCCTGAGACCC CCCA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02145.hp1 HG02970.hp2 others(8): Show HG02055.hp2 HG02145.hp1 HG02970.hp2 HG03098.hp1 HG03195.hp1 HG03453.hp1 HG03516.hp1 HG03540.hp1 HG06807.hp2 NA18522.hp1 NA19030.hp1	a0001 a0001	a0001c0005 a0001c0008 a0001c0011 others(4): Show a0001c0005 a0001c0008 a0001c0011 a0001c0016 a0001c0031 a0001c0040 a0001c0046	a0001c0005t0026 a0001c0005t0067 a0001c0005t0083 others(7): Show a0001c0005t0026 a0001c0005t0067 a0001c0005t0083 a0001c0008t0027 a0001c0011t0024 a0001c0011t0029 a0001c0016t0029 a0001c0031t0027 a0001c0040t0066 a0001c0046t0024	a0001c0005t0026g0109 a0001c0005t0026g0151 a0001c0005t0067g0111 others(8): Show a0001c0005t0026g0109 a0001c0005t0026g0151 a0001c0005t0067g0111 a0001c0005t0083g0017 a0001c0008t0027g0143 a0001c0011t0024g0147 a0001c0011t0029g0196 a0001c0016t0029g0193 a0001c0031t0027g0173 a0001c0040t0066g0180 a0001c0046t0024g0164	11	196	0.0561	53	c.337 others(72): Show c.3370+1599_3370+1651dupCCCCAGGGTCCCTGAGACCCCCCAGA AGCATCCACACGTCCACACCCGGCTGG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	28/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80951116	G G	GGAAGCAT others(46): Show GGAAGCATCCACACGTCCACACCCGGCTGGCCCCAGGGTCCCTGAGACCC TCCA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0077 a0001c0077	a0001c0077t0086 a0001c0077t0086	a0001c0077t0086g0195 a0001c0077t0086g0195	1	196	0.0051	53	c.337 others(72): Show c.3370+1618_3370+1619insTCCAGAAGCATCCACACGTCCACACC CGGCTGGCCCCAGGGTCCCTGAGACCC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	28/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80951116	G G	GGAAGCAT others(46): Show GGAAGCATCCACACGTCCACACCTGGCTGGCCCCAGGGTCCCTGAGACCC CCCA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03486.hp2 HG02976.hp2 HG03486.hp2	a0001 a0001	a0001c0006 a0001c0044 a0001c0006 a0001c0044	a0001c0006t0082 a0001c0044t0045 a0001c0006t0082 a0001c0044t0045	a0001c0006t0082g0015 a0001c0044t0045g0080 a0001c0006t0082g0015 a0001c0044t0045g0080	2	196	0.0102	53	c.337 others(72): Show c.3370+1591_3370+1592insTGGCTGGCCCCAGGGTCCCTGAGACC CCCCAGAAGCATCCACACGTCCACACC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	28/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80951157	C C	CTGAGACC others(46): Show CTGAGACCCCCCAGAAGCATCCACACGTCCACACCCGGCTGGCCCCAGGG TCCT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0125 a0001c0009t0001g0125	1	196	0.0051	53	c.337 others(72): Show c.3370+1651_3370+1652insCCCCAGGGTCCTTGAGACCCCCCAGA AGCATCCACACGTCCACACCCGGCTGG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	28/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RSL1D1_chr16_11828850_11856542	11837376	T T	TTTTTGAG others(46): Show TTTTTGAGACTGAGTCTTGCTCTGTCATCAGGCTGGAGTGCAGTGGCTCA CTGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01884.hp1 HG02451.hp1 HG01884.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0239 a0001c0001t0023g0240 a0001c0001t0023g0239 a0001c0001t0023g0240	2	406	0.0049	53	c.35 others(62): Show c.358_*410dupGCAGTGAGCCACTGCACTCCAGCCTGATGACAGAGC AAGACTCAGTCTCAAAA	RSL1D1	ENSG00000171490.13	transcript	ENST00000571133.6	protein_coding	9/9	410		chr16	TogoVar
RSPH14_chr22_23054415_23146990	23130496	A A	AAGAAAGA others(46): Show AAGAAAGAAAGAAAGAAAGGAAAGAAGAAAGAAAGAAGAAAGAAAGAAAG AAAG	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0056 a0001c0002t0001g0056	1	314	0.0032	53	c.421 others(70): Show c.421+3529_421+3530insCTTTCTTTCTTTCTTTCTTCTTTCTTTC TTCTTTCCTTTCTTTCTTTCTTTCT	RSPH14	ENSG00000100218.12	transcript	ENST00000216036.9	protein_coding	4/6			chr22	TogoVar
RTP5_chr2_241864729_241878823	241874916	C C	CAGGAGAA others(46): Show CAGGAGAAACCCCAATCCAGGTCTCAGGGGCCGAAATGCAGGGACGGGGG TCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0006 a0007c0007t0006	a0007c0007t0006g0012 a0007c0007t0006g0012	1	365	0.0027	53	c.16 others(64): Show c.1642_*1643insAGGAGAAACCCCAATCCAGGTCTCAGGGGCCGAA ATGCAGGGACGGGGGTCCT	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding		1094		chr2	TogoVar
RTP5_chr2_241864729_241878823	241874948	G G	GAAATGCA others(46): Show GAAATGCAGGGACGGGGGTCCCAGGAGAAACCCCAATCCAGGTCTCAGGG GCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00621.hp1 HG00639.hp2 others(35): Show HG00544.hp2 HG00621.hp1 HG00639.hp2 HG00741.hp2 HG01081.hp2 HG01175.hp2 HG01346.hp1 HG01346.hp2 HG01928.hp2 HG01943.hp1 HG01975.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02027.hp1 HG02074.hp2 HG02080.hp2 HG02129.hp2 HG02132.hp1 HG02135.hp2 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02683.hp1 NA18943.hp2 NA18952.hp2 NA18970.hp2 NA18980.hp2 NA18983.hp1 NA19007.hp1 NA19009.hp1 NA19055.hp1 NA19057.hp1 NA19066.hp2 NA19067.hp1 NA19080.hp2 NA19084.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0023	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0023c0026	a0001c0001t0002 a0002c0002t0001 a0002c0002t0010 others(7): Show a0001c0001t0002 a0002c0002t0001 a0002c0002t0010 a0002c0002t0015 a0002c0002t0018 a0002c0002t0028 a0002c0002t0029 a0002c0002t0031 a0003c0003t0003 a0023c0026t0026	a0001c0001t0002g0001 a0002c0002t0001g0002 a0002c0002t0001g0025 others(9): Show a0001c0001t0002g0001 a0002c0002t0001g0002 a0002c0002t0001g0025 a0002c0002t0010g0002 a0002c0002t0015g0002 a0002c0002t0018g0002 a0002c0002t0018g0013 a0002c0002t0028g0002 a0002c0002t0029g0002 a0002c0002t0031g0002 a0003c0003t0003g0001 a0023c0026t0026g0002	38	365	0.1041	53	c.16 others(64): Show c.1674_*1675insAAATGCAGGGACGGGGGTCCCAGGAGAAACCCCA ATCCAGGTCTCAGGGGCCA	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding		1126		chr2	TogoVar
RTP5_chr2_241864729_241878823	241874948	G G	GAAATGCA others(46): Show GAAATGCAGGGACGGGGGTCCTAGGAGAAACCCCAATCCAGGTCTCAGGG GCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00408.hp2 HG00597.hp1 others(54): Show HG00280.hp1 HG00408.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG01071.hp2 HG01099.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01255.hp2 HG01517.hp1 HG01891.hp1 HG01975.hp2 HG01981.hp1 HG02015.hp2 HG02040.hp2 HG02055.hp1 HG02071.hp1 HG02074.hp1 HG02132.hp2 HG02135.hp1 HG02273.hp1 HG02683.hp2 HG03017.hp2 HG03239.hp2 HG03704.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 NA18946.hp2 NA18947.hp2 NA18950.hp2 NA18970.hp1 NA18980.hp1 NA18985.hp1 NA18991.hp2 NA18995.hp1 NA19010.hp2 NA19054.hp2 NA19080.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20805.hp2	a0001 a0003 a0010 others(1): Show a0001 a0003 a0010 a0015	a0001c0001 a0003c0003 a0010c0011 others(1): Show a0001c0001 a0003c0003 a0010c0011 a0015c0016	a0001c0001t0002 a0003c0003t0003 a0003c0003t0014 others(4): Show a0001c0001t0002 a0003c0003t0003 a0003c0003t0014 a0003c0003t0023 a0003c0003t0033 a0010c0011t0003 a0015c0016t0003	a0001c0001t0002g0001 a0001c0001t0002g0007 a0003c0003t0003g0001 others(9): Show a0001c0001t0002g0001 a0001c0001t0002g0007 a0003c0003t0003g0001 a0003c0003t0003g0010 a0003c0003t0003g0019 a0003c0003t0003g0034 a0003c0003t0003g0041 a0003c0003t0014g0033 a0003c0003t0023g0001 a0003c0003t0033g0001 a0010c0011t0003g0001 a0015c0016t0003g0001	57	365	0.1562	53	c.16 others(64): Show c.1674_*1675insAAATGCAGGGACGGGGGTCCTAGGAGAAACCCCA ATCCAGGTCTCAGGGGCCA	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding		1126		chr2	TogoVar
RTP5_chr2_241864729_241878823	241874961	G G	GGGGGGTC others(46): Show GGGGGGTCCTAGGAGAAACCCCAATCCAGGTCTCAGGGGCCAAAATGCAG GGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0007 a0001c0001t0017g0007	1	365	0.0027	53	c.16 others(64): Show c.1687_*1688insGGGGGTCCTAGGAGAAACCCCAATCCAGGTCTCA GGGGCCAAAATGCAGGGAC	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding		1139		chr2	TogoVar
RTP5_chr2_241864729_241878823	241876411	A A	ATCCAGGT others(46): Show ATCCAGGTCTCAGGGGCCCAACGGCAGGGACGAGGATCCCAGGAGAAACC TCAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00423.hp2 HG01261.hp1 others(43): Show HG00099.hp1 HG00423.hp2 HG01261.hp1 HG01261.hp2 HG01884.hp1 HG02055.hp2 HG02109.hp1 HG02129.hp1 HG02300.hp1 HG02615.hp2 HG02622.hp2 HG02818.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03195.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03492.hp1 NA18943.hp1 NA18954.hp1 NA18965.hp2 NA18971.hp2 NA18979.hp1 NA18983.hp2 NA18984.hp1 NA18985.hp2 NA18995.hp2 NA18998.hp1 NA18999.hp1 NA19000.hp1 NA19003.hp2 NA19043.hp2 NA19060.hp1 NA19065.hp1 NA19074.hp1 NA19074.hp2 NA19079.hp2 NA19085.hp2 NA19088.hp1 NA20300.hp1 NA21309.hp1	a0001 a0004 a0005 others(4): Show a0001 a0004 a0005 a0011 a0012 a0016 a0017	a0001c0023 a0001c0025 a0004c0004 others(5): Show a0001c0023 a0001c0025 a0004c0004 a0005c0005 a0011c0013 a0012c0014 a0016c0028 a0017c0027	a0001c0023t0005 a0001c0025t0005 a0004c0004t0001 others(6): Show a0001c0023t0005 a0001c0025t0005 a0004c0004t0001 a0004c0004t0010 a0005c0005t0005 a0011c0013t0001 a0012c0014t0012 a0016c0028t0001 a0017c0027t0001	a0001c0023t0005g0022 a0001c0025t0005g0005 a0004c0004t0001g0003 others(10): Show a0001c0023t0005g0022 a0001c0025t0005g0005 a0004c0004t0001g0003 a0004c0004t0001g0016 a0004c0004t0001g0024 a0004c0004t0001g0028 a0004c0004t0001g0031 a0004c0004t0010g0003 a0005c0005t0005g0005 a0011c0013t0001g0003 a0012c0014t0012g0015 a0016c0028t0001g0003 a0017c0027t0001g0003	46	365	0.1260	53	c.31 others(64): Show c.3137_*3138insTCCAGGTCTCAGGGGCCCAACGGCAGGGACGAGG ATCCCAGGAGAAACCTCAG	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding		2589		chr2	TogoVar
RTP5_chr2_241864729_241878823	241876411	A A	ATCCAGGT others(46): Show ATCCAGGTCTCAGGGGCCCAACGGCAGGGATGAGGATCCCAGGAGAAACC TCAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0019 a0019	a0019c0024 a0019c0024	a0019c0024t0027 a0019c0024t0027	a0019c0024t0027g0029 a0019c0024t0027g0029	1	365	0.0027	53	c.31 others(64): Show c.3137_*3138insTCCAGGTCTCAGGGGCCCAACGGCAGGGATGAGG ATCCCAGGAGAAACCTCAG	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding		2589		chr2	TogoVar
RUBCNL_chr13_46329681_46392252	46388240	A A	AGGAGGGA others(46): Show AGGAGGGAGGGAGGGAGGAAGGCAGGCAGGCAGGCAGGAAGGAACCCAAG GGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0240 a0001c0001t0009g0240	1	356	0.0028	53	c.-13 others(64): Show c.-1398_-1346dupCTCCCTTGGGTTCCTTCCTGCCTGCCTGCCTGCC TTCCTCCCTCCCTCCCTCC	RUBCNL	ENSG00000102445.20	transcript	ENST00000429979.6	protein_coding		989		chr13	TogoVar
RYK_chr3_134152133_134255859	134224640	A A	AGGTGCCT others(46): Show AGGTGCCTTCCCAGGCACTGGCGCTACCACTAGACCAAGGTCTGCTAAGT AACG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0203 a0001c0001t0002g0203	1	376	0.0027	53	c.233 others(70): Show c.233-2154_233-2102dupCGTTACTTAGCAGACCTTGGTCTAGTGG TAGCGCCAGTGCCTGGGAAGGCACC	RYK	ENSG00000163785.14	transcript	ENST00000623711.4	protein_coding	1/14			chr3	TogoVar
RYR2_chr1_237037184_237838988	237473442	T T	TTTCTTTC others(46): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT CTTC	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0016 a0001c0003t0004g0016	1	100	0.0100	53	c.170 others(72): Show c.1708+4275_1708+4276insTTCTTTCTTTCTTTCTTTCTTTCTTT CTTCTTCTTCTTTCTTTCTTTCTTTCT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	17/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237473446	T T	TTTCTTTC others(46): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT CTTC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0003 a0003	a0003c0043 a0003c0043	a0003c0043t0002 a0003c0043t0002	a0003c0043t0002g0068 a0003c0043t0002g0068	1	100	0.0100	53	c.170 others(72): Show c.1708+4275_1708+4276insTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTCTTCTTCTTTCTTTCTTTCT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	17/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934105	C C	CCGTTACA others(46): Show CCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGCG GCTG	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18975.hp2 NA18998.hp1 others(1): Show NA18971.hp1 NA18975.hp2 NA18998.hp1 NA19074.hp2	a0008 a0028 a0008 a0028	a0008c0014 a0028c0048 a0008c0014 a0028c0048	a0008c0014t0004 a0028c0048t0004 a0008c0014t0004 a0028c0048t0004	a0008c0014t0004g0258 a0008c0014t0004g0259 a0008c0014t0004g0260 others(1): Show a0008c0014t0004g0258 a0008c0014t0004g0259 a0008c0014t0004g0260 a0028c0048t0004g0244	4	434	0.0092	53	c.843 others(70): Show c.843-1653_843-1652insGGGGGAGGCGGCTGCGTTACAGGTGGGC AGGGGCGGCTGCGTTACAGGTGGGC	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934375	G G	GGAGGCGG others(46): Show GGAGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTCCGTTACAGGTG GGCA	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0243 a0002c0003t0004g0243	1	434	0.0023	53	c.843 others(70): Show c.843-1396_843-1395insAGGCGGCTGCGTTACAGGTGGGCGGGGG GGGCGGCTCCGTTACAGGTGGGCAG	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SASH1_chr6_148337838_148557044	148387604	C C	CTTCCTTC others(46): Show CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCT	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0001 a0001c0028t0001	a0001c0028t0001g0043 a0001c0028t0001g0043	1	322	0.0031	53	c.157 others(70): Show c.157-2528_157-2527insCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTT	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148387612	C C	CTTCCTTC others(46): Show CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCT	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0006 a0002c0005t0006	a0002c0005t0006g0213 a0002c0005t0006g0213	1	322	0.0031	53	c.157 others(70): Show c.157-2520_157-2519insCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTT	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148449078	C C	CTTTTTTT others(46): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0319 a0002c0002t0003g0319	1	322	0.0031	53	c.386 others(70): Show c.386+8686_386+8687insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTT	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SCAMP1_chr5_78355617_78485739	78460754	T T	TTCCTTCC others(46): Show TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTGGTTTCT TTTC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0155 a0001c0001t0017g0155	1	332	0.0030	53	c.852 others(70): Show c.852+1433_852+1434insTGGTTTCTTTTCTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78460762	T T	TTCCTTCC others(46): Show TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTGGTTTCT TTTC	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0145 a0001c0001t0005g0145	1	332	0.0030	53	c.852 others(70): Show c.852+1441_852+1442insTGGTTTCTTTTCTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP5_chr15_74990563_75026495	74990964	T T	TTTTTTTC others(46): Show TTTTTTTCTCTTTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	370	0.0027	53	c.-47 others(64): Show c.-4758_-4757insTTTTTTCTCTTTCTCTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTC	SCAMP5	ENSG00000198794.12	transcript	ENST00000425597.8	protein_coding		4598		chr15	TogoVar
SCHIP1_chr3_159268244_159902359	159468756	A A	AATATATA others(46): Show AATATATATATATATATATATAATATAATATATAATATATAATATAATAT ATAT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	100	0.0100	53	c.63+ others(72): Show c.63+194894_63+194895insATATAATATATAATATATAATATAAT ATATATATATATATATATATATATATA	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCNN1D_chr1_1275436_1297025	1288773	T T	TCCCGTGT others(46): Show TCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGC TCCG	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0063 a0002c0003t0001g0063	1	290	0.0035	53	c.166 others(70): Show c.1662+749_1662+750insCCCGTCCCGTGTCCCTGCTCCGTCCCGT GTCTCTGCTCCGCCCGTGTCTCTGC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289472	C C	CCCGTGTC others(46): Show CCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCC CCGT	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0012 a0002c0003t0002g0012	1	290	0.0035	53	c.166 others(70): Show c.1663-769_1663-768insCCCGTCCCGTGTCTCTGCCCCGTCCGTG TCTCTGCTCCGTCCCGTGTCTCTGC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1296332	G G	GGCCCAAC others(46): Show GGCCCAACCCCCACCCCCGGCCTGGCCCTCAGTGGCCCACCTGTGGATGC TCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0111 a0002c0003t0004g0111	1	290	0.0035	53	c.47 others(64): Show c.4722_*4723insGCCCAACCCCCACCCCCGGCCTGGCCCTCAGTGG CCCACCTGTGGATGCTCCA	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding		4308		chr1	TogoVar
SDF2_chr17_28643346_28666906	28663828	A A	ATTTTTTT others(46): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	398	0.0025	53	c.-19 others(64): Show c.-1953_-1952insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAA	SDF2	ENSG00000132581.10	transcript	ENST00000247020.9	protein_coding		1923		chr17	TogoVar
SDHA_chr5_213320_262082	252469	G G	GTAAGTCA others(46): Show GTAAGTCACTGTTTCAAGCCTGTCCTGTGGAGGAAATGCCAGTTTATTAA CGAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01081.hp2 HG01168.hp2 others(7): Show HG00735.hp2 HG01081.hp2 HG01168.hp2 HG02280.hp2 HG02647.hp2 HG03471.hp1 HG03669.hp2 NA18522.hp2 NA18965.hp2 NA19081.hp2	a0002 a0004 a0002 a0004	a0002c0003 a0004c0005 a0002c0003 a0004c0005	a0002c0003t0004 a0004c0005t0004 a0004c0005t0006 a0002c0003t0004 a0004c0005t0004 a0004c0005t0006	a0002c0003t0004g0020 a0002c0003t0004g0101 a0002c0003t0004g0102 others(6): Show a0002c0003t0004g0020 a0002c0003t0004g0101 a0002c0003t0004g0102 a0002c0003t0004g0103 a0002c0003t0004g0104 a0004c0005t0004g0106 a0004c0005t0006g0105 a0004c0005t0006g0107 a0004c0005t0006g0108	10	266	0.0376	53	c.179 others(72): Show c.1794+1005_1794+1006insTCACTGTTTCAAGCCTGTCCTGTGGA GGAAATGCCAGTTTATTAACGAATAAG	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
SEMA3E_chr7_83358238_83654139	83617431	A A	AATAATTT others(46): Show AATAATTTTATATAAATTTTATATAAATAATATATAATTTTATATAAATA ATAT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00733.hp2 HG00735.hp2 others(90): Show HG00621.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01243.hp1 HG01243.hp2 HG01346.hp2 HG01515.hp1 HG01934.hp2 HG01978.hp2 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02109.hp2 HG02129.hp1 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp2 HG02723.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02965.hp2 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03688.hp1 HG03831.hp1 HG04115.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18945.hp1 NA18953.hp1 NA18954.hp1 NA18963.hp2 NA18984.hp2 NA19002.hp1 NA19012.hp1 NA19043.hp2 NA19077.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0010 a0001c0011 a0001c0014 a0002c0004 a0002c0012 a0003c0007 a0003c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(57): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0009 a0001c0001t0019 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0037 a0001c0001t0038 a0001c0001t0041 a0001c0001t0056 a0001c0001t0063 a0001c0001t0064 a0001c0001t0067 a0001c0001t0075 a0001c0001t0078 a0001c0001t0088 a0001c0001t0097 a0001c0001t0098 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0008 a0001c0002t0032 a0001c0002t0069 a0001c0002t0071 a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0001c0003t0033 a0001c0005t0013 a0001c0005t0015 a0001c0005t0021 a0001c0005t0039 a0001c0005t0062 a0001c0006t0055 a0001c0006t0082 a0001c0006t0094 a0001c0010t0058 a0001c0010t0059 a0001c0010t0060 a0001c0011t0033 a0001c0014t0009 a0002c0004t0003 a0002c0004t0018 a0002c0004t0031 a0002c0004t0032 a0002c0004t0089 a0002c0004t0090 a0002c0004t0091 a0002c0012t0068 a0003c0007t0036 a0003c0009t0061 a0003c0009t0092	a0001c0001t0001g0135 a0001c0001t0001g0139 a0001c0001t0002g0147 others(90): Show a0001c0001t0001g0135 a0001c0001t0001g0139 a0001c0001t0002g0147 a0001c0001t0003g0137 a0001c0001t0004g0182 a0001c0001t0008g0142 a0001c0001t0009g0136 a0001c0001t0019g0163 a0001c0001t0019g0165 a0001c0001t0019g0166 a0001c0001t0022g0177 a0001c0001t0022g0199 a0001c0001t0022g0200 a0001c0001t0023g0186 a0001c0001t0023g0187 a0001c0001t0023g0191 a0001c0001t0024g0004 a0001c0001t0029g0113 a0001c0001t0029g0172 a0001c0001t0030g0141 a0001c0001t0030g0143 a0001c0001t0031g0192 a0001c0001t0037g0003 a0001c0001t0038g0006 a0001c0001t0041g0009 a0001c0001t0056g0058 a0001c0001t0063g0065 a0001c0001t0064g0064 a0001c0001t0067g0066 a0001c0001t0075g0148 a0001c0001t0078g0170 a0001c0001t0088g0173 a0001c0001t0097g0226 a0001c0001t0098g0215 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0102 a0001c0002t0001g0104 a0001c0002t0001g0109 a0001c0002t0001g0111 a0001c0002t0001g0144 a0001c0002t0002g0103 a0001c0002t0003g0106 a0001c0002t0008g0110 a0001c0002t0032g0188 a0001c0002t0069g0072 a0001c0002t0071g0107 a0001c0003t0001g0099 a0001c0003t0001g0108 a0001c0003t0001g0118 a0001c0003t0001g0140 a0001c0003t0001g0146 a0001c0003t0002g0112 a0001c0003t0002g0145 a0001c0003t0004g0193 a0001c0003t0004g0194 a0001c0003t0004g0195 a0001c0003t0004g0196 a0001c0003t0004g0197 a0001c0003t0004g0198 a0001c0003t0033g0184 a0001c0005t0013g0054 a0001c0005t0013g0055 a0001c0005t0013g0057 a0001c0005t0015g0180 a0001c0005t0015g0201 a0001c0005t0015g0202 a0001c0005t0021g0101 a0001c0005t0039g0002 a0001c0005t0062g0063 a0001c0006t0055g0056 a0001c0006t0082g0167 a0001c0006t0094g0174 a0001c0010t0058g0060 a0001c0010t0059g0059 a0001c0010t0060g0061 a0001c0011t0033g0190 a0001c0014t0009g0164 a0002c0004t0003g0100 a0002c0004t0003g0105 a0002c0004t0003g0134 a0002c0004t0018g0168 a0002c0004t0018g0169 a0002c0004t0018g0171 a0002c0004t0031g0178 a0002c0004t0032g0181 a0002c0004t0089g0179 a0002c0004t0090g0176 a0002c0004t0091g0189 a0002c0012t0068g0068 a0003c0007t0036g0007 a0003c0009t0061g0062 a0003c0009t0092g0175	93	226	0.4115	53	c.115 others(72): Show c.115+30996_115+30997insATATTATTTATATAAAATTATATATT ATTTATATAAAATTTATATAAAATTAT	SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	1/16			chr7	TogoVar
SENP7_chr3_101319205_101518212	101439789	C C	CCGCCCGG others(46): Show CCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCGGCCC CCCT	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0066 a0002c0002t0009g0066	1	370	0.0027	53	c.284 others(72): Show c.284+19165_284+19166insAGGGGGGCCGACCCCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCG	SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	4/23			chr3	TogoVar
SERAC1_chr6_158104519_158173262	158169745	T T	TTGTATAT others(46): Show TTGTATATTATATAATATATTGTATATTATATTATAATATAATATAATAT ATTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	366	0.0027	53	c.-16 others(64): Show c.-1608_-1607insCAATATATTATATTATATTATAATATAATATACA ATATATTATATAATATACA	SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding		1484		chr6	TogoVar
SERPINA5_chr14_94576426_94598118	94591549	G G	GTTCTATT others(46): Show GTTCTATTCTATTCTATTCTATTCTATTCTATTCTATTCTATTCTATTCT ATTC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0004 a0003c0002t0004	a0003c0002t0004g0269 a0003c0002t0004g0269	1	464	0.0022	53	c.103 others(70): Show c.1039-506_1039-454dupTCTATTCTATTCTATTCTATTCTATTCT ATTCTATTCTATTCTATTCTATTCT	SERPINA5	ENSG00000188488.14	transcript	ENST00000329597.12	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
SERPINA5_chr14_94576426_94598118	94591549	G G	GTTCTATT others(46): Show GTTCTATTCTATTCTATTCTATTCTATTCTATTCTATTCTATTCTATTCT TCTA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0004 a0003c0002t0004	a0003c0002t0004g0125 a0003c0002t0004g0125	1	464	0.0022	53	c.103 others(70): Show c.1039-459_1039-458insTCTATTCTATTCTATTCTATTCTATTCT ATTCTATTCTATTCTATTCTATTCT	SERPINA5	ENSG00000188488.14	transcript	ENST00000329597.12	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
SERPINA5_chr14_94576426_94598118	94591554	A A	ATTCTATT others(46): Show ATTCTATTCTATTCTATTCTATTCTATTCTATTCTATTCTATTCTATTCT ATTC	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18951.hp2 NA18522.hp2 NA18951.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0004 a0003c0002t0004	a0003c0002t0004g0224 a0003c0002t0004g0272 a0003c0002t0004g0224 a0003c0002t0004g0272	2	464	0.0043	53	c.103 others(70): Show c.1039-501_1039-449dupTCTATTCTATTCTATTCTATTCTATTCT ATTCTATTCTATTCTATTCTATTCT	SERPINA5	ENSG00000188488.14	transcript	ENST00000329597.12	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
SERPINA5_chr14_94576426_94598118	94591559	A A	ATTCTATT others(46): Show ATTCTATTCTATTCTATTCTATTCTATTCTATTCTATTCTATTCTATTCT ATTC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03688.hp1 NA18979.hp2 others(1): Show HG02717.hp1 HG03688.hp1 NA18979.hp2 NA18994.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0004 a0003c0002t0010 a0003c0002t0004 a0003c0002t0010	a0003c0002t0004g0215 a0003c0002t0004g0222 a0003c0002t0004g0259 others(1): Show a0003c0002t0004g0215 a0003c0002t0004g0222 a0003c0002t0004g0259 a0003c0002t0010g0098	4	464	0.0086	53	c.103 others(70): Show c.1039-496_1039-444dupTCTATTCTATTCTATTCTATTCTATTCT ATTCTATTCTATTCTATTCTATTCT	SERPINA5	ENSG00000188488.14	transcript	ENST00000329597.12	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr14	TogoVar

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