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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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
OR5K4_chr3_98348854_98359819	98352578	A A	AAAAATGT others(28): Show AAAAATGTGCTTTGAATTAACTATCGTAGGCTCTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	1	452	0.0022	35	c.-12 others(46): Show c.-1276_-1275insAAAATGTGCTTTGAATTAACTATCGTAGGCTCTT C	OR5K4	ENSG00000196098.2	transcript	ENST00000354924.2	protein_coding		1275		chr3	TogoVar
OR6B3_chr2_240039571_240058521	240043713	T T	TGCCACGC others(28): Show TGCCACGCCTGGGAGCTCTCGGGTCCTGACCTGCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00597.hp2 HG00621.hp2 others(72): Show HG00140.hp1 HG00597.hp2 HG00621.hp2 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01255.hp1 HG01358.hp2 HG01433.hp2 HG01515.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG02083.hp1 HG02109.hp1 HG02145.hp1 HG02257.hp1 HG02258.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02622.hp1 HG02622.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02735.hp1 HG02738.hp2 HG02818.hp1 HG02895.hp1 HG02896.hp1 HG03130.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03490.hp1 HG03491.hp1 HG03688.hp1 HG04115.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18954.hp2 NA18957.hp1 NA18966.hp1 NA18994.hp1 NA18995.hp2 NA19004.hp2 NA19006.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19055.hp2 NA19058.hp2 NA19064.hp1 NA19066.hp2 NA19090.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp2	a0003 a0004 a0015 a0003 a0004 a0015	a0003c0004 a0004c0003 a0004c0017 others(1): Show a0003c0004 a0004c0003 a0004c0017 a0015c0013	a0003c0004t0003 a0004c0003t0003 a0004c0003t0013 others(2): Show a0003c0004t0003 a0004c0003t0003 a0004c0003t0013 a0004c0017t0003 a0015c0013t0003	a0003c0004t0003g0003 a0003c0004t0003g0028 a0003c0004t0003g0048 others(26): Show a0003c0004t0003g0003 a0003c0004t0003g0028 a0003c0004t0003g0048 a0003c0004t0003g0050 a0003c0004t0003g0063 a0003c0004t0003g0068 a0003c0004t0003g0089 a0003c0004t0003g0091 a0003c0004t0003g0092 a0003c0004t0003g0108 a0003c0004t0003g0130 a0003c0004t0003g0132 a0004c0003t0003g0007 a0004c0003t0003g0029 a0004c0003t0003g0030 a0004c0003t0003g0054 a0004c0003t0003g0072 a0004c0003t0003g0077 a0004c0003t0003g0079 a0004c0003t0003g0080 a0004c0003t0003g0081 a0004c0003t0003g0105 a0004c0003t0003g0110 a0004c0003t0003g0112 a0004c0003t0003g0123 a0004c0003t0003g0131 a0004c0003t0013g0134 a0004c0017t0003g0070 a0015c0013t0003g0099	75	444	0.1689	35	c.13 others(46): Show c.1363_*1364insGGGCAGGTCAGGACCCGAGAGCTCCCAGGCGTGG C	OR6B3	ENSG00000178586.7	transcript	ENST00000641019.2	protein_coding		857		chr2	TogoVar
OR6J1_chr14_22625929_22649352	22636334	C C	CCCTCTCC others(28): Show CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	362	0.0028	35	c.-27 others(52): Show c.-27-1531_-27-1497dupAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGG	OR6J1	ENSG00000255804.2	transcript	ENST00000540461.2	protein_coding	1/1			chr14	TogoVar
OR6J1_chr14_22625929_22649352	22636358	C C	CCCTCTCC others(28): Show CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	362	0.0028	35	c.-27 others(52): Show c.-27-1555_-27-1521dupAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGG	OR6J1	ENSG00000255804.2	transcript	ENST00000540461.2	protein_coding	1/1			chr14	TogoVar
OR7A10_chr19_14835466_14853922	14844664	G G	GTTTTTTT others(28): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0194 a0001c0002t0003g0194	1	488	0.0021	35	c.-12 others(52): Show c.-12-2776_-12-2775insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	OR7A10	ENSG00000127515.3	transcript	ENST00000641129.1	protein_coding	1/1			chr19	TogoVar
OR9A2_chr7_143021200_143032132	143030391	A A	AATTCCTT others(28): Show AATTCCTTAAATTGCCCAAGCCCAAATACTTGCCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	1	321	0.0031	35	c.-32 others(46): Show c.-3260_-3259insATGGCAAGTATTTGGGCTTGGGCAATTTAAGGAA T	OR9A2	ENSG00000179468.6	transcript	ENST00000350513.3	protein_coding		3260		chr7	TogoVar
OR9A4_chr7_141911399_141925625	141913841	A A	AAAATAAG others(28): Show AAAATAAGATAAGATAAGATAAAATAAAAATAAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0004 a0001c0003t0006g0004	1	446	0.0022	35	c.-28 others(46): Show c.-2826_-2825insAAATAAGATAAGATAAGATAAAATAAAAATAAAA T	OR9A4	ENSG00000258083.2	transcript	ENST00000641559.1	protein_coding		2557		chr7	TogoVar
ORC3_chr6_87585135_87672451	87644079	C C	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01978.hp2 NA19000.hp1 HG01978.hp2 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0188 a0001c0001t0005g0129 a0001c0001t0001g0188 a0001c0001t0005g0129	2	378	0.0053	35	c.138 others(54): Show c.1382+7624_1382+7625insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	ORC3	ENSG00000135336.16	transcript	ENST00000392844.8	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
ORMDL3_chr17_39916043_39932601	39929143	T T	TCCCCCCC others(28): Show TCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	410	0.0024	35	c.-16 others(46): Show c.-1683_-1682insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG G	ORMDL3	ENSG00000172057.10	transcript	ENST00000304046.7	protein_coding		1543		chr17	TogoVar
OSBPL10_chr3_31655825_31986262	31761813	T T	TAAAAAAA others(28): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	186	0.0054	35	c.730 others(54): Show c.730-13694_730-13693insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	OSBPL10	ENSG00000144645.16	transcript	ENST00000396556.7	protein_coding	4/11			chr3	TogoVar
OSBPL10_chr3_31655825_31986262	31965396	T T	TAATATAT others(28): Show TAATATATAATATAAAATATATATTATATATAATAG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00639.hp2 HG01243.hp1 others(23): Show HG00423.hp1 HG00639.hp2 HG01243.hp1 HG01891.hp2 HG02258.hp1 HG02451.hp1 HG02486.hp1 HG02615.hp2 HG02622.hp1 HG02717.hp1 HG02717.hp2 HG02809.hp2 HG02897.hp1 HG02922.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03225.hp1 HG03579.hp1 HG03579.hp2 HG06807.hp1 NA18906.hp1 NA19043.hp1 NA19043.hp2 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0006 a0001c0023 others(6): Show a0001c0001 a0001c0006 a0001c0023 a0001c0024 a0001c0025 a0001c0026 a0001c0028 a0003c0008 a0003c0019	a0001c0001t0001 a0001c0001t0002 a0001c0006t0001 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0006t0001 a0001c0006t0002 a0001c0023t0001 a0001c0024t0001 a0001c0025t0002 a0001c0026t0002 a0001c0028t0001 a0003c0008t0002 a0003c0019t0001	a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 others(23): Show a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0079 a0001c0001t0001g0083 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0152 a0001c0001t0002g0082 a0001c0001t0002g0084 a0001c0001t0002g0086 a0001c0006t0001g0091 a0001c0006t0002g0081 a0001c0023t0001g0015 a0001c0024t0001g0016 a0001c0025t0002g0089 a0001c0026t0002g0150 a0001c0028t0001g0085 a0003c0008t0002g0008 a0003c0019t0001g0007	26	186	0.1398	35	c.281 others(54): Show c.281+15502_281+15503insCTATTATATATAATATATATTTTATA TTATATATT	OSBPL10	ENSG00000144645.16	transcript	ENST00000396556.7	protein_coding	1/11			chr3	TogoVar
OSBPL1A_chr18_24157052_24402824	24287772	A A	AAAAATAA others(28): Show AAAAATAAAATAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02523.hp2 HG03486.hp2 HG02258.hp1 HG02523.hp2 HG03486.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0004 a0001c0003t0003 a0001c0003t0004	a0001c0003t0003g0017 a0001c0003t0003g0180 a0001c0003t0004g0149 a0001c0003t0003g0017 a0001c0003t0003g0180 a0001c0003t0004g0149	3	206	0.0146	35	c.117 others(54): Show c.1175-6859_1175-6825dupATTTTATTTTATTTTATTTTATTTTA TTTTATTTT	OSBPL1A	ENSG00000141447.19	transcript	ENST00000319481.8	protein_coding	14/27			chr18	TogoVar
OSBPL1A_chr18_24157052_24402824	24337375	T T	TTAACATA others(28): Show TTAACATAACATAACATAACATAACATAACATAACA	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG06807.hp2 HG03017.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0003 a0001c0001t0001 a0001c0003t0003	a0001c0001t0001g0136 a0001c0003t0003g0152 a0001c0001t0001g0136 a0001c0003t0003g0152	2	206	0.0097	35	c.395 others(52): Show c.395-3080_395-3046dupTGTTATGTTATGTTATGTTATGTTATGT TATGTTA	OSBPL1A	ENSG00000141447.19	transcript	ENST00000319481.8	protein_coding	5/27			chr18	TogoVar
OSBPL3_chr7_24791540_24985178	24917382	C C	CATATATA others(28): Show CATATATATATATTTGTAACATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01934.hp1 NA19074.hp1 HG01934.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0170 a0001c0002t0001g0076 a0001c0001t0002g0170 a0001c0002t0001g0076	2	326	0.0061	35	c.-14 others(56): Show c.-149-24796_-149-24762dupATATATATATATATATGTTACAAA TATATATATAT	OSBPL3	ENSG00000070882.13	transcript	ENST00000313367.7	protein_coding	1/22			chr7	TogoVar
OSBPL3_chr7_24791540_24985178	24917403	T T	TATATATA others(28): Show TATATATATATATATATATATATATATATTTGTAAC	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01943.hp2 NA18948.hp1 others(1): Show HG01496.hp2 HG01943.hp2 NA18948.hp1 NA18982.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0018 a0001c0002 a0003c0018	a0001c0002t0001 a0003c0018t0001 a0001c0002t0001 a0003c0018t0001	a0001c0002t0001g0156 a0001c0002t0001g0163 a0001c0002t0001g0228 others(1): Show a0001c0002t0001g0156 a0001c0002t0001g0163 a0001c0002t0001g0228 a0003c0018t0001g0145	4	326	0.0123	35	c.-14 others(56): Show c.-149-24783_-149-24782insGTTACAAATATATATATATATATA TATATATATAT	OSBPL3	ENSG00000070882.13	transcript	ENST00000313367.7	protein_coding	1/22			chr7	TogoVar
OSBPL3_chr7_24791540_24985178	24917407	T T	TATATATA others(28): Show TATATATATATATATATATATATATATATATGTAAC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0324 a0001c0001t0008g0324	1	326	0.0031	35	c.-14 others(56): Show c.-149-24787_-149-24786insGTTACATATATATATATATATATA TATATATATAT	OSBPL3	ENSG00000070882.13	transcript	ENST00000313367.7	protein_coding	1/22			chr7	TogoVar
OSBPL3_chr7_24791540_24985178	24917411	T T	TATATATA others(28): Show TATATATATATATATATATATATATATATTTGTAAC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01891.hp2 HG03209.hp1 HG01243.hp2 HG01891.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0109 a0001c0001t0001g0218 a0001c0001t0001g0101 a0001c0001t0001g0109 a0001c0001t0001g0218	3	326	0.0092	35	c.-14 others(56): Show c.-149-24791_-149-24790insGTTACAAATATATATATATATATA TATATATATAT	OSBPL3	ENSG00000070882.13	transcript	ENST00000313367.7	protein_coding	1/22			chr7	TogoVar
OSBPL3_chr7_24791540_24985178	24917446	T T	TATATATA others(28): Show TATATATATATATATTTGTAACATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0119 a0001c0004t0001g0119	1	326	0.0031	35	c.-14 others(56): Show c.-149-24826_-149-24825insGTATATATATATATGTTACAAATA TATATATATAT	OSBPL3	ENSG00000070882.13	transcript	ENST00000313367.7	protein_coding	1/22			chr7	TogoVar
OSCAR_chr19_54089668_54105803	54089940	G G	GTTTTTTT others(28): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00639.hp1 HG01081.hp1 others(13): Show HG00323.hp2 HG00639.hp1 HG01081.hp1 HG01256.hp2 HG02055.hp2 HG02273.hp2 HG03041.hp1 HG03704.hp2 NA18968.hp1 NA18968.hp2 NA18983.hp2 NA18986.hp2 NA19002.hp1 NA19010.hp2 NA19012.hp1 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0013 others(1): Show a0001c0001 a0001c0003 a0001c0013 a0003c0004	a0001c0001t0001 a0001c0003t0001 a0001c0013t0001 others(1): Show a0001c0001t0001 a0001c0003t0001 a0001c0013t0001 a0003c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0040 a0001c0001t0001g0057 others(9): Show a0001c0001t0001g0001 a0001c0001t0001g0040 a0001c0001t0001g0057 a0001c0001t0001g0146 a0001c0001t0001g0152 a0001c0001t0001g0170 a0001c0001t0001g0203 a0001c0001t0001g0257 a0001c0003t0001g0193 a0001c0003t0001g0250 a0001c0013t0001g0303 a0003c0004t0001g0095	16	443	0.0361	35	c.52 others(46): Show c.5280_*5281insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	OSCAR	ENSG00000170909.14	transcript	ENST00000358375.9	protein_coding		4727		chr19	TogoVar
OSCP1_chr1_36412906_36455451	36427299	C C	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03098.hp1 HG02559.hp2 HG03098.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0295 a0004c0004t0001g0299 a0004c0004t0001g0295 a0004c0004t0001g0299	2	380	0.0053	35	c.517 others(52): Show c.517-3834_517-3833insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	OSCP1	ENSG00000116885.18	transcript	ENST00000235532.9	protein_coding	4/9			chr1	TogoVar
OSER1_chr20_44190939_44215771	44215754	C C	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp2 NA19076.hp1 HG04228.hp2 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0003 a0001c0001t0003g0025 a0001c0001t0001g0003 a0001c0001t0003g0025	2	444	0.0045	35	c.-51 others(46): Show c.-5101_-5100insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	OSER1	ENSG00000132823.11	transcript	ENST00000255174.3	protein_coding		4984		chr20	TogoVar
OSGIN1_chr16_83948240_83971332	83952551	A A	AGGTGTGG others(28): Show AGGTGTGGGGTGTGCAGTGCTACCCACATAAAACAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0116 a0001c0001t0010g0116	1	350	0.0029	35	c.-85 others(44): Show c.-852_-851insGGTGTGGGGTGTGCAGTGCTACCCACATAAAACAG	OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding		688		chr16	TogoVar
OSTF1_chr9_75083514_75152265	75128552	C C	CATATATA others(28): Show CATATATATATATATATATATATTTTGTCCATATAT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0338 a0001c0001t0001g0338	1	366	0.0027	35	c.132 others(50): Show c.132+954_132+988dupATTTTGTCCATATATATATATATATATATA TATAT	OSTF1	ENSG00000134996.12	transcript	ENST00000346234.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
OSTF1_chr9_75083514_75152265	75139055	T T	TTTCTTTC others(28): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0344 a0001c0001t0007g0344	1	366	0.0027	35	c.487 others(52): Show c.487+1441_487+1442insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTT	OSTF1	ENSG00000134996.12	transcript	ENST00000346234.7	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
OTOA_chr16_21658968_21765729	21695891	A A	ATATATAT others(28): Show ATATATATATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0163 a0001c0001t0002g0163	1	320	0.0031	35	c.740 others(52): Show c.740-1883_740-1882insATATATATATATATATATATATTTTTTT TTTTTTT	OTOA	ENSG00000155719.18	transcript	ENST00000646100.2	protein_coding	9/28		INFO_REALIGN_3_PRIME	chr16	TogoVar
OTOA_chr16_21658968_21765729	21695891	A A	ATATATAT others(28): Show ATATATATATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0288 a0001c0001t0001g0288	1	320	0.0031	35	c.740 others(52): Show c.740-1883_740-1882insATATATATATATATATATATTTTTTTTT TTTTTTT	OTOA	ENSG00000155719.18	transcript	ENST00000646100.2	protein_coding	9/28		INFO_REALIGN_3_PRIME	chr16	TogoVar
OTOF_chr2_26452203_26483124	26475129	A A	AGGAGACA others(28): Show AGGAGACAGGAGGTGAGGATGTCCTGGCCTGGGAAG	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	330	0.0030	35	c.885 others(50): Show c.885+229_885+230insCTTCCCAGGCCAGGACATCCTCACCTCCTG TCTCC	OTOF	ENSG00000115155.19	transcript	ENST00000339598.8	protein_coding	8/28			chr2	TogoVar
OTOF_chr2_26452203_26483124	26476535	C C	CCCCTTCC others(28): Show CCCCTTCCCCCACCCCTTCCCCCACCTCCTTCCCCA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00642.hp2 HG01074.hp2 others(33): Show HG00639.hp2 HG00642.hp2 HG01074.hp2 HG01109.hp2 HG01496.hp2 HG01884.hp2 HG01891.hp1 HG01934.hp2 HG02055.hp2 HG02257.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02723.hp1 HG02809.hp1 HG02818.hp1 HG02895.hp1 HG02897.hp2 HG02922.hp2 HG02976.hp2 HG03041.hp2 HG03195.hp1 HG03209.hp2 HG03453.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 NA18906.hp1 NA19043.hp2 NA19240.hp2 NA20129.hp2 NA21309.hp2	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0013 a0014 a0015	a0001c0015 a0002c0004 a0002c0008 others(6): Show a0001c0015 a0002c0004 a0002c0008 a0002c0013 a0002c0016 a0004c0012 a0013c0027 a0014c0025 a0015c0023	a0001c0015t0001 a0002c0004t0001 a0002c0004t0003 others(8): Show a0001c0015t0001 a0002c0004t0001 a0002c0004t0003 a0002c0008t0001 a0002c0008t0005 a0002c0013t0001 a0002c0016t0001 a0004c0012t0001 a0013c0027t0001 a0014c0025t0001 a0015c0023t0001	a0001c0015t0001g0057 a0001c0015t0001g0058 a0002c0004t0001g0183 others(22): Show a0001c0015t0001g0057 a0001c0015t0001g0058 a0002c0004t0001g0183 a0002c0004t0003g0009 a0002c0004t0003g0014 a0002c0004t0003g0030 a0002c0004t0003g0179 a0002c0004t0003g0180 a0002c0004t0003g0181 a0002c0004t0003g0182 a0002c0008t0001g0050 a0002c0008t0001g0052 a0002c0008t0001g0054 a0002c0008t0005g0020 a0002c0008t0005g0053 a0002c0013t0001g0007 a0002c0016t0001g0034 a0002c0016t0001g0035 a0004c0012t0001g0017 a0004c0012t0001g0037 a0004c0012t0001g0038 a0004c0012t0001g0039 a0013c0027t0001g0051 a0014c0025t0001g0056 a0015c0023t0001g0055	36	330	0.1091	35	c.436 others(50): Show c.436-219_436-218insTGGGGAAGGAGGTGGGGGAAGGGGTGGGGG AAGGG	OTOF	ENSG00000115155.19	transcript	ENST00000339598.8	protein_coding	5/28			chr2	TogoVar
OTOF_chr2_26452203_26483124	26476613	T T	TCCCCACC others(28): Show TCCCCACCCCTTCCCCACCTCCTTCCCCACCCCTTC	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0077 a0001c0003t0001g0077	1	330	0.0030	35	c.435 others(50): Show c.435+277_435+278insGAAGGGGTGGGGAAGGAGGTGGGGAAGGGG TGGGG	OTOF	ENSG00000115155.19	transcript	ENST00000339598.8	protein_coding	5/28			chr2	TogoVar
OTOF_chr2_26452203_26483124	26476721	C C	CCCCCACC others(28): Show CCCCCACCTCCTTCCCCACCCCCTTCCCCACCCCTT	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	330	0.0030	35	c.435 others(50): Show c.435+169_435+170insAAGGGGTGGGGAAGGGGGTGGGGAAGGAGG TGGGG	OTOF	ENSG00000115155.19	transcript	ENST00000339598.8	protein_coding	5/28			chr2	TogoVar
OTOF_chr2_26452203_26563756	26476535	C C	CCCCTTCC others(28): Show CCCCTTCCCCCACCCCTTCCCCCACCTCCTTCCCCA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00642.hp2 HG01074.hp2 others(33): Show HG00639.hp2 HG00642.hp2 HG01074.hp2 HG01109.hp2 HG01496.hp2 HG01884.hp2 HG01891.hp1 HG01934.hp2 HG02055.hp2 HG02257.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02723.hp1 HG02809.hp1 HG02818.hp1 HG02895.hp1 HG02897.hp2 HG02922.hp2 HG02976.hp2 HG03041.hp2 HG03195.hp1 HG03209.hp2 HG03453.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 NA18906.hp1 NA19043.hp2 NA19240.hp2 NA20129.hp2 NA21309.hp2	a0001 a0003 a0007 others(4): Show a0001 a0003 a0007 a0008 a0011 a0017 a0027	a0001c0029 a0001c0084 a0003c0005 others(11): Show a0001c0029 a0001c0084 a0003c0005 a0003c0007 a0003c0030 a0003c0046 a0003c0086 a0007c0016 a0007c0066 a0008c0019 a0008c0043 a0011c0039 a0017c0068 a0027c0052	a0001c0029t0014 a0001c0084t0001 a0003c0005t0001 others(22): Show a0001c0029t0014 a0001c0084t0001 a0003c0005t0001 a0003c0005t0002 a0003c0005t0007 a0003c0005t0008 a0003c0007t0001 a0003c0007t0003 a0003c0007t0011 a0003c0007t0017 a0003c0007t0018 a0003c0030t0001 a0003c0046t0002 a0003c0086t0015 a0007c0016t0001 a0007c0016t0003 a0007c0016t0004 a0007c0016t0006 a0007c0066t0001 a0008c0019t0007 a0008c0019t0016 a0008c0043t0004 a0011c0039t0002 a0017c0068t0004 a0027c0052t0001	a0001c0029t0014g0010 a0001c0084t0001g0188 a0003c0005t0001g0055 others(33): Show a0001c0029t0014g0010 a0001c0084t0001g0188 a0003c0005t0001g0055 a0003c0005t0002g0037 a0003c0005t0002g0038 a0003c0005t0002g0039 a0003c0005t0002g0155 a0003c0005t0002g0172 a0003c0005t0002g0186 a0003c0005t0002g0192 a0003c0005t0007g0198 a0003c0005t0008g0265 a0003c0005t0008g0270 a0003c0007t0001g0129 a0003c0007t0003g0269 a0003c0007t0003g0272 a0003c0007t0011g0030 a0003c0007t0011g0200 a0003c0007t0017g0019 a0003c0007t0018g0182 a0003c0030t0001g0219 a0003c0046t0002g0183 a0003c0086t0015g0011 a0007c0016t0001g0029 a0007c0016t0003g0266 a0007c0016t0004g0018 a0007c0016t0006g0013 a0007c0066t0001g0218 a0008c0019t0007g0193 a0008c0019t0007g0206 a0008c0019t0016g0016 a0008c0043t0004g0017 a0011c0039t0002g0167 a0011c0039t0002g0184 a0017c0068t0004g0023 a0027c0052t0001g0131	36	284	0.1268	35	c.267 others(52): Show c.2677-219_2677-218insTGGGGAAGGAGGTGGGGGAAGGGGTGGG GGAAGGG	OTOF	ENSG00000115155.19	transcript	ENST00000272371.7	protein_coding	22/46			chr2	TogoVar
OTOF_chr2_26452203_26563756	26476721	C C	CCCCCACC others(28): Show CCCCCACCTCCTTCCCCACCCCCTTCCCCACCCCTT	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	284	0.0035	35	c.267 others(52): Show c.2676+169_2676+170insAAGGGGTGGGGAAGGGGGTGGGGAAGGA GGTGGGG	OTOF	ENSG00000115155.19	transcript	ENST00000272371.7	protein_coding	22/46			chr2	TogoVar
OTUD4_chr4_145128650_145185589	145135957	T T	TCTTAAGT others(28): Show TCTTAAGTAATTTGCTTTACAAAAAAAGAAAGTCAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0082 a0001c0001t0082	a0001c0001t0082g0058 a0001c0001t0082g0058	1	346	0.0029	35	c.14 others(46): Show c.1438_*1472dupGTGACTTTCTTTTTTTGTAAAGCAAATTACTTAA G	OTUD4	ENSG00000164164.17	transcript	ENST00000447906.8	protein_coding	21/21	1472		chr4	TogoVar
OTUD4_chr4_145128650_145185589	145184260	G G	GGGCTGAG others(28): Show GGGCTGAGGGCAGGAGAAATCACTTGGACCTGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0309 a0001c0001t0037g0309	1	346	0.0029	35	c.-42 others(46): Show c.-4288_-4287insTCCCCAGGTCCAAGTGATTTCTCCTGCCCTCAGC C	OTUD4	ENSG00000164164.17	transcript	ENST00000447906.8	protein_coding		3672		chr4	TogoVar
OTUD7A_chr15_31470398_31875673	31564387	G G	GTTTTTTT others(28): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03453.hp1 NA18992.hp2 NA19085.hp2 HG03453.hp1 NA18992.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0011 a0001c0002t0001 a0001c0002t0039 a0001c0001t0011 a0001c0002t0001 a0001c0002t0039	a0001c0001t0011g0044 a0001c0002t0001g0196 a0001c0002t0039g0198 a0001c0001t0011g0044 a0001c0002t0001g0196 a0001c0002t0039g0198	3	244	0.0123	35	c.332 others(52): Show c.332-5201_332-5200insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	4/12			chr15	TogoVar
OXR1_chr8_106265190_106757694	106694912	C C	CATATTTA others(28): Show CATATTTATATATATTTATATATATATAAATATAAA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00609.hp2 HG00741.hp1 others(52): Show HG00423.hp2 HG00609.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp2 HG01074.hp2 HG01167.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp2 HG01346.hp2 HG02004.hp1 HG02055.hp1 HG02071.hp2 HG02165.hp2 HG02257.hp2 HG02280.hp1 HG02486.hp2 HG02615.hp2 HG02647.hp1 HG02717.hp1 HG02723.hp1 HG02886.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03492.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp1 NA18522.hp2 NA18944.hp1 NA18960.hp1 NA18974.hp2 NA18975.hp2 NA18983.hp1 NA18990.hp1 NA18991.hp2 NA19012.hp1 NA19030.hp2 NA19043.hp2 NA19060.hp2 NA19087.hp2 NA20300.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0007 others(1): Show a0001c0001 a0001c0005 a0001c0007 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0015 a0001c0005t0005 a0001c0007t0005 a0001c0008t0002	a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0035 others(52): Show a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0035 a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0062 a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0105 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0122 a0001c0001t0001g0126 a0001c0001t0001g0132 a0001c0001t0001g0139 a0001c0001t0001g0145 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0002g0001 a0001c0001t0002g0014 a0001c0001t0002g0019 a0001c0001t0002g0078 a0001c0001t0002g0080 a0001c0001t0002g0083 a0001c0001t0002g0085 a0001c0001t0004g0063 a0001c0001t0004g0092 a0001c0001t0004g0167 a0001c0001t0004g0168 a0001c0001t0005g0095 a0001c0001t0005g0119 a0001c0001t0006g0002 a0001c0001t0006g0020 a0001c0001t0006g0021 a0001c0001t0008g0011 a0001c0001t0015g0162 a0001c0005t0005g0089 a0001c0007t0005g0156 a0001c0008t0002g0077	55	172	0.3198	35	c.675 others(52): Show c.675+2053_675+2087dupTATATATATAAATATAAAATATTTATAT ATATTTA	OXR1	ENSG00000164830.19	transcript	ENST00000517566.7	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
P2RX2_chr12_132613776_132627388	132618228	A A	AAAGAAAG others(28): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp1 NA18964.hp1 NA18964.hp2 others(1): Show HG02015.hp1 NA18964.hp1 NA18964.hp2 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0034 a0001c0001t0001g0001 a0001c0001t0001g0034	4	386	0.0104	35	c.-58 others(44): Show c.-589_-588insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	P2RX2	ENSG00000187848.15	transcript	ENST00000643471.2	protein_coding		547		chr12	TogoVar
P2RX2_chr12_132613776_132627388	132618232	A A	AAAGAAAG others(28): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00609.hp1 HG00609.hp2 others(40): Show HG00423.hp1 HG00609.hp1 HG00609.hp2 HG00741.hp1 HG01257.hp2 HG01433.hp2 HG01884.hp1 HG01891.hp1 HG02004.hp1 HG02055.hp2 HG02129.hp1 HG02132.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02451.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG03041.hp1 HG03453.hp2 HG03491.hp1 HG03492.hp1 HG03579.hp1 HG03710.hp1 NA18941.hp1 NA18942.hp1 NA18947.hp2 NA18955.hp2 NA18962.hp2 NA18966.hp1 NA18979.hp2 NA18999.hp2 NA19004.hp1 NA19010.hp1 NA19010.hp2 NA19077.hp1 NA19083.hp2 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA20752.hp1 NA20905.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0007 a0004c0009 a0001c0001 a0001c0007 a0004c0009	a0001c0001t0001 a0001c0007t0001 a0004c0009t0001 a0001c0001t0001 a0001c0007t0001 a0004c0009t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0018 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0018 a0001c0001t0001g0031 a0001c0007t0001g0035 a0004c0009t0001g0001	43	386	0.1114	35	c.-58 others(44): Show c.-585_-584insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	P2RX2	ENSG00000187848.15	transcript	ENST00000643471.2	protein_coding		543		chr12	TogoVar
P2RX4_chr12_121205129_121239106	121212824	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0239 a0001c0004t0001g0239	1	388	0.0026	35	c.134 others(52): Show c.134+2527_134+2528insATATATATATATATATATATATATATAT TTTTTTT	P2RX4	ENSG00000135124.16	transcript	ENST00000337233.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
P2RX7_chr12_121127876_121193032	121130843	A A	AGAAAGAA others(28): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp1 HG03704.hp1 NA18959.hp1 others(2): Show HG02083.hp1 HG03704.hp1 NA18959.hp1 NA19057.hp1 NA20752.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0001 a0001c0001t0001 a0003c0004t0001	a0001c0001t0001g0144 a0003c0004t0001g0123 a0003c0004t0001g0124 others(2): Show a0001c0001t0001g0144 a0003c0004t0001g0123 a0003c0004t0001g0124 a0003c0004t0001g0125 a0003c0004t0001g0134	5	366	0.0137	35	c.-21 others(46): Show c.-2128_-2127insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA G	P2RX7	ENSG00000089041.17	transcript	ENST00000328963.10	protein_coding		2032		chr12	TogoVar
P2RX7_chr12_121127876_121193032	121136023	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02155.hp2 HG04199.hp1 others(1): Show HG00621.hp2 HG02155.hp2 HG04199.hp1 NA19043.hp2	a0004 a0005 a0008 others(1): Show a0004 a0005 a0008 a0029	a0004c0003 a0005c0006 a0008c0007 others(1): Show a0004c0003 a0005c0006 a0008c0007 a0029c0037	a0004c0003t0004 a0005c0006t0003 a0008c0007t0002 others(1): Show a0004c0003t0004 a0005c0006t0003 a0008c0007t0002 a0029c0037t0001	a0004c0003t0004g0356 a0005c0006t0003g0358 a0008c0007t0002g0305 others(1): Show a0004c0003t0004g0356 a0005c0006t0003g0358 a0008c0007t0002g0305 a0029c0037t0001g0306	4	366	0.0109	35	c.125 others(52): Show c.125+2929_125+2930insAAAAAAAAAAAAATATATATATATATAT ATATATA	P2RX7	ENSG00000089041.17	transcript	ENST00000328963.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
P2RX7_chr12_121127876_121193032	121136023	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02976.hp1 HG02723.hp2 HG02976.hp1	a0004 a0005 a0004 a0005	a0004c0003 a0005c0006 a0004c0003 a0005c0006	a0004c0003t0010 a0005c0006t0003 a0004c0003t0010 a0005c0006t0003	a0004c0003t0010g0328 a0005c0006t0003g0327 a0004c0003t0010g0328 a0005c0006t0003g0327	2	366	0.0055	35	c.125 others(52): Show c.125+2929_125+2930insAAAAAAAAAAATATATATATATATATAT ATATATA	P2RX7	ENSG00000089041.17	transcript	ENST00000328963.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
P3H3_chr12_6823407_6844847	6827921	G G	GTGGGGGG others(28): Show GTGGGGGGGTGGGAGTGCAGGGGTGGATGAGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18941.hp2 NA18950.hp1 NA18952.hp2 others(9): Show NA18941.hp2 NA18950.hp1 NA18952.hp2 NA18970.hp2 NA18981.hp1 NA18994.hp2 NA18999.hp1 NA18999.hp2 NA19009.hp1 NA19011.hp2 NA19090.hp1 NA19091.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0005 a0001c0004t0001 a0001c0004t0005	a0001c0004t0001g0114 a0001c0004t0005g0009 a0001c0004t0005g0113 a0001c0004t0001g0114 a0001c0004t0005g0009 a0001c0004t0005g0113	12	452	0.0266	35	c.-52 others(44): Show c.-520_-519insTGGGGGGGTGGGAGTGCAGGGGTGGATGAGTGTGT	P3H3	ENSG00000110811.20	transcript	ENST00000290510.10	protein_coding		485		chr12	TogoVar
P4HA2_chr5_132185147_132232853	132208391	A A	AGGGGGAG others(28): Show AGGGGGAGGGGGGAGGGAGAGGGGGGAGGGGGAGGG	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	426	0.0024	35	c.904 others(50): Show c.904-508_904-507insCCCTCCCCCTCCCCCCTCTCCCTCCCCCCT CCCCC	P4HA2	ENSG00000072682.20	transcript	ENST00000360568.8	protein_coding	7/14			chr5	TogoVar
PABPN1L_chr16_88858333_88871660	88859959	C C	CGCATCCA others(28): Show CGCATCCAGTCCAGGTGGGCCCTACTTTCTGTGTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG01175.hp1 HG02055.hp1 others(4): Show HG01167.hp2 HG01175.hp1 HG02055.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0038 a0001c0001t0001g0015 a0001c0001t0001g0038	7	452	0.0155	35	c.37 others(46): Show c.3762_*3796dupAGACACAGAAAGTAGGGCCCACCTGGACTGGATG C	PABPN1L	ENSG00000205022.9	transcript	ENST00000419291.7	protein_coding		3373		chr16	TogoVar
PABPN1L_chr16_88858333_88871660	88859980	C C	CTACTTTC others(28): Show CTACTTTCTGTGTCTGCATCCAGTCCAGGTGGGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02109.hp1 HG02145.hp2 others(15): Show HG01891.hp2 HG02109.hp1 HG02145.hp2 HG02280.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02723.hp1 HG02723.hp2 HG02970.hp1 HG03041.hp1 HG03098.hp1 HG03516.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0020 a0001c0001 a0001c0002 a0001c0020	a0001c0001t0002 a0001c0002t0005 a0001c0020t0005 a0001c0001t0002 a0001c0002t0005 a0001c0020t0005	a0001c0001t0002g0009 a0001c0001t0002g0037 a0001c0002t0005g0016 others(2): Show a0001c0001t0002g0009 a0001c0001t0002g0037 a0001c0002t0005g0016 a0001c0002t0005g0028 a0001c0020t0005g0073	18	452	0.0398	35	c.37 others(46): Show c.3775_*3776insAGGCCCACCTGGACTGGATGCAGACACAGAAAGT A	PABPN1L	ENSG00000205022.9	transcript	ENST00000419291.7	protein_coding		3352		chr16	TogoVar
PABPN1L_chr16_88858333_88871660	88862553	C C	CCTGGGCC others(28): Show CCTGGGCCTTTGCTGACGCAGAACGCGGGAAGGACG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00408.hp2 HG00423.hp2 others(190): Show HG00280.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00673.hp1 HG00733.hp1 HG00738.hp1 HG01069.hp1 HG01074.hp1 HG01081.hp1 HG01106.hp2 HG01109.hp2 HG01167.hp2 HG01168.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01433.hp2 HG01515.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp2 HG01981.hp1 HG02015.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp2 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03669.hp2 HG03710.hp1 HG03831.hp2 HG04184.hp2 HG04204.hp2 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18949.hp1 NA18950.hp1 NA18955.hp2 NA18957.hp1 NA18960.hp1 NA18960.hp2 NA18964.hp2 NA18966.hp2 NA18967.hp1 NA18968.hp1 NA18969.hp1 NA18970.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18981.hp1 NA18983.hp2 NA18988.hp1 NA18990.hp2 NA18992.hp2 NA18993.hp2 NA18999.hp1 NA19002.hp1 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19055.hp2 NA19056.hp2 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19063.hp1 NA19064.hp2 NA19065.hp1 NA19067.hp2 NA19068.hp1 NA19070.hp2 NA19072.hp2 NA19074.hp1 NA19077.hp2 NA19078.hp2 NA19081.hp1 NA19083.hp1 NA19083.hp2 NA19084.hp2 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA19240.hp2 NA20129.hp1 NA20805.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0004 a0005 others(5): Show a0001 a0004 a0005 a0008 a0009 a0011 a0013 a0015	a0001c0001 a0001c0002 a0001c0003 others(10): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0017 a0001c0020 a0004c0007 a0005c0010 a0008c0011 a0009c0019 a0011c0013 a0013c0016 a0015c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0002t0005 a0001c0003t0001 a0001c0003t0002 a0001c0004t0002 a0001c0017t0002 a0001c0020t0005 a0004c0007t0001 a0005c0010t0001 a0008c0011t0001 a0009c0019t0009 a0011c0013t0001 a0013c0016t0003 a0015c0018t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(45): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0002g0009 a0001c0001t0002g0037 a0001c0001t0002g0066 a0001c0001t0003g0004 a0001c0001t0003g0033 a0001c0001t0003g0063 a0001c0001t0006g0036 a0001c0001t0007g0032 a0001c0002t0005g0016 a0001c0002t0005g0028 a0001c0003t0001g0041 a0001c0003t0001g0042 a0001c0003t0002g0026 a0001c0003t0002g0027 a0001c0004t0002g0020 a0001c0004t0002g0025 a0001c0004t0002g0043 a0001c0017t0002g0069 a0001c0020t0005g0073 a0004c0007t0001g0024 a0005c0010t0001g0039 a0008c0011t0001g0040 a0009c0019t0009g0074 a0011c0013t0001g0068 a0013c0016t0003g0059 a0015c0018t0001g0072	193	452	0.4270	35	c.12 others(46): Show c.1202_*1203insCGTCCTTCCCGCGTTCTGCGTCAGCAAAGGCCCA G	PABPN1L	ENSG00000205022.9	transcript	ENST00000419291.7	protein_coding		779		chr16	TogoVar
PACS1_chr11_66065272_66249744	66164596	A A	ATATATAA others(28): Show ATATATAATACATATATATATATATGTATTATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0230 a0001c0001t0002g0230	1	322	0.0031	35	c.357 others(54): Show c.357-28870_357-28869insATATGTATTATATATTATATAATACA TATATATAT	PACS1	ENSG00000175115.13	transcript	ENST00000320580.9	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
PAGE1_chrX_49682447_49700984	49689927	G G	GGTGTATA others(28): Show GGTGTATATATATGTGTGTATATACACACATATATA	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0249 a0001c0001t0001g0249	1	322	0.0031	35	c.293 others(50): Show c.293-385_293-384insTATATATGTGTGTATATACACACATATATA TACAC	PAGE1	ENSG00000068985.5	transcript	ENST00000376150.4	protein_coding	4/5			chrX	TogoVar
PAGE1_chrX_49682447_49700984	49689928	G G	GTGTATAT others(28): Show GTGTATATATATGTGTGTATATACACACATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01106.hp1 HG00099.hp2 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0195 a0001c0001t0001g0099 a0001c0001t0001g0195	2	322	0.0062	35	c.293 others(50): Show c.293-386_293-385insATATATATGTGTGTATATACACACATATAT ATACA	PAGE1	ENSG00000068985.5	transcript	ENST00000376150.4	protein_coding	4/5			chrX	TogoVar

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