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
GSTM4_chr1_109651099_109666700	109664341	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00438.hp1 HG01256.hp2 others(9): Show HG00323.hp2 HG00438.hp1 HG01256.hp2 HG02027.hp2 HG02132.hp2 HG02257.hp2 HG03017.hp2 HG03540.hp1 HG03834.hp1 NA18942.hp1 NA18962.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0003 a0001c0001t0001 a0001c0001t0002 a0001c0002t0003	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0079 others(4): Show a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0079 a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0002t0003g0008 a0001c0002t0003g0074	12	364	0.0330	11	c.30 others(22): Show c.3087_*3088insTTTTTTTTTTT	GSTM4	ENSG00000168765.19	transcript	ENST00000369836.9	protein_coding		2642		chr1	TogoVar
GSTM5_chr1_109707251_109723268	109720035	C C	CAATCCAA others(4): Show CAATCCAAGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	394	0.0025	11	c.26 others(22): Show c.2609_*2610insAATCCAAGTGT	GSTM5	ENSG00000134201.12	transcript	ENST00000256593.8	protein_coding		1768		chr1	TogoVar
GSTO1_chr10_104249892_104272455	104250417	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	378	0.0027	11	c.-45 others(22): Show c.-4512_-4511insTTTTTTTTTTT	GSTO1	ENSG00000148834.13	transcript	ENST00000369713.10	protein_coding		4474		chr10	TogoVar
GSTO2_chr10_104264184_104309950	104272587	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA19056.hp2 NA18956.hp1 NA19056.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0002c0001t0001 a0001c0002t0001 a0002c0001t0001	a0001c0002t0001g0255 a0002c0001t0001g0216 a0001c0002t0001g0255 a0002c0001t0001g0216	2	300	0.0067	11	c.-23 others(30): Show c.-231-2064_-231-2054dupTTTTTTTTTTT	GSTO2	ENSG00000065621.15	transcript	ENST00000338595.7	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
GSTO2_chr10_104264184_104309950	104293563	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02109.hp2 HG03710.hp1 others(2): Show HG01884.hp2 HG02109.hp2 HG03710.hp1 NA19079.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0013 a0001c0002t0024 a0001c0002t0002 a0001c0002t0013 a0001c0002t0024	a0001c0002t0002g0019 a0001c0002t0013g0013 a0001c0002t0024g0042 a0001c0002t0002g0019 a0001c0002t0013g0013 a0001c0002t0024g0042	5	300	0.0167	11	c.469 others(28): Show c.469-4003_469-3993dupTTTTTTTTTTT	GSTO2	ENSG00000065621.15	transcript	ENST00000338595.7	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
GSTO2_chr10_104264184_104309950	104309331	T T	TATATATA others(4): Show TATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0008 a0002c0005t0008	a0002c0005t0008g0144 a0002c0005t0008g0144	1	300	0.0033	11	c.10 others(24): Show c.10047_*10048insATATATATATA	GSTO2	ENSG00000065621.15	transcript	ENST00000338595.7	protein_coding		4382		chr10	TogoVar
GSTP1_chr11_67578812_67591653	67583377	A A	ATAAAATA others(4): Show ATAAAATAAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp1 HG02895.hp1 HG02897.hp2 others(1): Show HG02717.hp1 HG02895.hp1 HG02897.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0006 a0002c0002t0001g0002 a0001c0001t0001g0006 a0002c0002t0001g0002	4	392	0.0102	11	c.-46 others(20): Show c.-467_-466insTAAAATAAAAT	GSTP1	ENSG00000084207.18	transcript	ENST00000398606.10	protein_coding		434		chr11	TogoVar
GSX1_chr13_27787483_27799768	27799047	A A	ACCCCCCC others(4): Show ACCCCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	440	0.0023	11	c.50 others(22): Show c.5099_*5100insCCCCCCCCCCC	GSX1	ENSG00000169840.5	transcript	ENST00000302945.3	protein_coding		4280		chr13	TogoVar
GSX2_chr4_54095163_54107498	54103650	C C	CACACACA others(4): Show CACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	372	0.0027	11	c.17 others(22): Show c.1728_*1729insACACACACACA	GSX2	ENSG00000180613.11	transcript	ENST00000326902.7	protein_coding		1153		chr4	TogoVar
GSX2_chr4_54095163_54107498	54104455	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG03017.hp1 HG03516.hp1 others(3): Show HG01081.hp2 HG03017.hp1 HG03516.hp1 HG04228.hp1 NA19007.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0001 a0001c0002t0002g0003 a0001c0001t0001g0001 a0001c0002t0002g0003	6	372	0.0161	11	c.25 others(22): Show c.2533_*2534insAAAAAAAAAAA	GSX2	ENSG00000180613.11	transcript	ENST00000326902.7	protein_coding		1958		chr4	TogoVar
GTDC1_chr2_143933068_144337512	144133151	A A	ATATATAT others(4): Show ATATATATATAT	intron_variant intron_variant	MODIFIER	HG02922.hp1 NA19240.hp2 HG02922.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0008 a0001c0003t0001g0105 a0001c0001t0001g0008 a0001c0003t0001g0105	2	124	0.0161	11	c.521 others(28): Show c.521+8730_521+8731insATATATATATA	GTDC1	ENSG00000121964.15	transcript	ENST00000682281.1	protein_coding	6/11			chr2	TogoVar
GTDC1_chr2_143933068_144337512	144242960	T T	TAAAAAAA others(4): Show TAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03471.hp1 NA18986.hp2 others(1): Show HG02976.hp2 HG03471.hp1 NA18986.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0042 a0001c0003t0003 a0001c0001t0002 a0001c0001t0042 a0001c0003t0003	a0001c0001t0002g0010 a0001c0001t0002g0033 a0001c0001t0042g0110 others(1): Show a0001c0001t0002g0010 a0001c0001t0002g0033 a0001c0001t0042g0110 a0001c0003t0003g0107	4	124	0.0323	11	c.-15 others(30): Show c.-150-7234_-150-7224dupTTTTTTTTTTT	GTDC1	ENSG00000121964.15	transcript	ENST00000682281.1	protein_coding	1/11			chr2	TogoVar
GTF2A1_chr14_81170452_81225959	81211875	T T	TATATATA others(4): Show TATATATATATA	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0205 a0001c0001t0003g0205	1	350	0.0029	11	c.132 others(28): Show c.132+4537_132+4538insTATATATATAT	GTF2A1	ENSG00000165417.12	transcript	ENST00000553612.6	protein_coding	2/8			chr14	TogoVar
GTF2B_chr1_88847633_88896567	88892802	G G	GTGTGTGT others(4): Show GTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	372	0.0027	11	c.-13 others(22): Show c.-1304_-1303insACACACACACA	GTF2B	ENSG00000137947.12	transcript	ENST00000370500.10	protein_coding		1236		chr1	TogoVar
GTF2F2_chr13_45115510_45289893	45150664	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00639.hp1 HG00738.hp1 others(25): Show HG00280.hp2 HG00639.hp1 HG00738.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01099.hp2 HG01123.hp1 HG01175.hp2 HG01891.hp1 HG01891.hp2 HG02055.hp1 HG02109.hp2 HG02132.hp1 HG02630.hp1 HG02896.hp1 HG02897.hp1 HG03098.hp2 HG03209.hp1 HG03490.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 NA19240.hp1 NA20300.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0066 a0001c0001t0001g0067 others(25): Show a0001c0001t0001g0015 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0102 a0001c0001t0001g0209	28	210	0.1333	11	c.159 others(26): Show c.159+879_159+889dupTTTTTTTTTTT	GTF2F2	ENSG00000188342.13	transcript	ENST00000340473.8	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GTF2F2_chr13_45115510_45289893	45191215	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0210 a0001c0001t0005g0210	1	210	0.0048	11	c.305 others(30): Show c.305-16199_305-16198insAAAAAAAAAAA	GTF2F2	ENSG00000188342.13	transcript	ENST00000340473.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GTF2F2_chr13_45115510_45289893	45191224	A A	ATATATAT others(4): Show ATATATATATAT	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0169 a0001c0002t0001g0169	1	210	0.0048	11	c.305 others(30): Show c.305-16200_305-16199insTATATATATAT	GTF2F2	ENSG00000188342.13	transcript	ENST00000340473.8	protein_coding	4/7			chr13	TogoVar
GTF2F2_chr13_45115510_45289893	45212459	C C	CTTTTCTT others(4): Show CTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01192.hp2 HG02257.hp2 others(5): Show HG01074.hp1 HG01192.hp2 HG02257.hp2 HG02258.hp1 HG02572.hp2 HG02647.hp2 HG02717.hp2 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0006 a0001c0002t0001 a0001c0001t0001 a0001c0001t0006 a0001c0002t0001	a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0048 others(5): Show a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0073 a0001c0001t0006g0055 a0001c0002t0001g0170 a0001c0002t0001g0174	8	210	0.0381	11	c.386 others(28): Show c.386+4957_386+4958insTCTTTTCTTTT	GTF2F2	ENSG00000188342.13	transcript	ENST00000340473.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GTF2F2_chr13_45115510_45289893	45228283	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01109.hp2 HG01243.hp1 others(33): Show HG00639.hp2 HG01109.hp2 HG01243.hp1 HG01361.hp1 HG01891.hp2 HG01934.hp1 HG02055.hp2 HG02258.hp2 HG02280.hp2 HG02451.hp2 HG02572.hp1 HG02615.hp2 HG02622.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02809.hp2 HG02895.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03486.hp2 HG03491.hp1 HG03516.hp1 NA18906.hp2 NA18962.hp1 NA18982.hp2 NA19030.hp2 NA19043.hp1 NA19240.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0011 others(33): Show a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0045 a0001c0001t0001g0053 a0001c0001t0001g0101 a0001c0001t0001g0205 a0001c0001t0002g0001 a0001c0001t0002g0007 a0001c0001t0002g0009 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0031	36	210	0.1714	11	c.386 others(30): Show c.386+20784_386+20794dupTTTTTTTTTTT	GTF2F2	ENSG00000188342.13	transcript	ENST00000340473.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GTF2F2_chr13_45115510_45289893	45240101	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG03139.hp2 HG02698.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0205 a0001c0001t0001g0101 a0001c0001t0001g0205	2	210	0.0095	11	c.387 others(30): Show c.387-12754_387-12744dupTTTTTTTTTTT	GTF2F2	ENSG00000188342.13	transcript	ENST00000340473.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GTF2H1_chr11_18317567_18372045	18345796	G G	GTCTTTTT others(4): Show GTCTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00621.hp2 HG00639.hp1 others(55): Show HG00423.hp2 HG00621.hp2 HG00639.hp1 HG01123.hp2 HG01255.hp2 HG01433.hp2 HG01516.hp1 HG01517.hp1 HG01891.hp1 HG01943.hp2 HG01952.hp1 HG01978.hp1 HG02040.hp2 HG02055.hp1 HG02080.hp2 HG02083.hp2 HG02148.hp1 HG02293.hp1 HG02559.hp2 HG02622.hp1 HG02630.hp1 HG02886.hp1 HG03041.hp2 HG03130.hp1 HG03195.hp2 HG03209.hp1 HG03486.hp1 HG03579.hp1 HG03831.hp1 HG03834.hp1 HG03942.hp1 NA18940.hp1 NA18944.hp1 NA18952.hp1 NA18969.hp1 NA18971.hp2 NA18972.hp2 NA18975.hp2 NA18978.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp2 NA18986.hp2 NA18991.hp1 NA18993.hp2 NA19000.hp1 NA19001.hp1 NA19001.hp2 NA19009.hp1 NA19063.hp2 NA19066.hp1 NA19066.hp2 NA19074.hp2 NA19077.hp2 NA19085.hp1 NA19240.hp1 NA20752.hp2 NA21309.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0004c0006t0001	a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0010 others(41): Show a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0079 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0204 a0001c0001t0001g0212 a0001c0001t0002g0086 a0001c0001t0010g0053 a0004c0006t0001g0167	58	370	0.1568	11	c.838 others(28): Show c.838-1791_838-1790insCTTTTTTTTTT	GTF2H1	ENSG00000110768.12	transcript	ENST00000265963.9	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr11	TogoVar
GTF2H1_chr11_18317567_18372045	18367880	A A	AAAAAAAA others(4): Show AAAAAAAAAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0009 a0001c0001t0002g0009	1	370	0.0027	11	c.20 others(22): Show c.2011_*2012insAAAAAAAAAAT	GTF2H1	ENSG00000110768.12	transcript	ENST00000265963.9	protein_coding		836		chr11	TogoVar
GTF2H1_chr11_18317567_18372045	18367880	A A	AAAAAAAA others(4): Show AAAAAAAAATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0268 a0001c0001t0001g0268	1	370	0.0027	11	c.20 others(22): Show c.2011_*2012insAAAAAAAATAT	GTF2H1	ENSG00000110768.12	transcript	ENST00000265963.9	protein_coding		836		chr11	TogoVar
GTF2H1_chr11_18317567_18372045	18367880	A A	AAAAATAT others(4): Show AAAAATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0134 a0001c0001t0002g0134	1	370	0.0027	11	c.20 others(22): Show c.2011_*2012insAAAATATATAT	GTF2H1	ENSG00000110768.12	transcript	ENST00000265963.9	protein_coding		836		chr11	TogoVar
GTF2H1_chr11_18317567_18372045	18367880	A A	AAATATAT others(4): Show AAATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0266 a0001c0001t0001g0266	1	370	0.0027	11	c.20 others(22): Show c.2011_*2012insAATATATATAT	GTF2H1	ENSG00000110768.12	transcript	ENST00000265963.9	protein_coding		836		chr11	TogoVar
GTF2H2C_chr5_69555191_69600221	69597489	T T	TGCAGTCT others(4): Show TGCAGTCTCGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02559.hp1 HG02257.hp2 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0063 a0001c0001t0001g0064	2	167	0.0120	11	c.52 others(22): Show c.5291_*5292insGCAGTCTCGAC	GTF2H2C	ENSG00000183474.16	transcript	ENST00000380729.8	protein_coding		2269		chr5	TogoVar
GTF2H3_chr12_123628829_123667604	123661640	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01975.hp2 HG02897.hp1 HG01975.hp2 HG02897.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0023 a0001c0002t0025 a0001c0002t0023 a0001c0002t0025	a0001c0002t0023g0050 a0001c0002t0025g0160 a0001c0002t0023g0050 a0001c0002t0025g0160	2	272	0.0074	11	c.14 others(22): Show c.1407_*1417dupAAAAAAAAAAA	GTF2H3	ENSG00000111358.14	transcript	ENST00000543341.7	protein_coding	13/13	1418	INFO_REALIGN_3_PRIME	chr12	TogoVar
GTF2H4_chr6_30903207_30919106	30916476	G G	GTGTGTGT others(4): Show GTGTGTGTATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0001 a0001c0002t0002g0001	1	411	0.0024	11	c.24 others(22): Show c.2493_*2494insTGTGTGTATTA	GTF2H4	ENSG00000213780.11	transcript	ENST00000259895.9	protein_coding		2371		chr6	TogoVar
GTF2IRD1_chr7_74448906_74607605	74476366	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00280.hp2 others(122): Show HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01081.hp1 HG01123.hp2 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02040.hp2 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02165.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02683.hp1 HG02698.hp1 HG02723.hp1 HG02886.hp2 HG02922.hp1 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03239.hp2 HG03471.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03540.hp1 HG03540.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG04115.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 NA18522.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18945.hp1 NA18964.hp2 NA18966.hp1 NA18975.hp1 NA18989.hp2 NA18993.hp1 NA19004.hp1 NA19005.hp1 NA19007.hp2 NA19010.hp2 NA19043.hp1 NA19056.hp1 NA19060.hp2 NA19064.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0006 a0008	a0001c0001 a0001c0010 a0001c0012 others(12): Show a0001c0001 a0001c0010 a0001c0012 a0001c0016 a0002c0002 a0002c0003 a0002c0004 a0002c0005 a0002c0006 a0002c0007 a0002c0008 a0002c0009 a0004c0013 a0006c0015 a0008c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(26): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0010t0001 a0001c0012t0001 a0001c0016t0001 a0002c0002t0001 a0002c0002t0003 a0002c0002t0009 a0002c0002t0010 a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0011 a0002c0004t0001 a0002c0004t0002 a0002c0004t0004 a0002c0005t0001 a0002c0006t0001 a0002c0006t0002 a0002c0007t0001 a0002c0008t0001 a0002c0008t0008 a0002c0009t0001 a0002c0009t0003 a0004c0013t0001 a0006c0015t0002 a0008c0021t0002	a0001c0001t0001g0024 a0001c0001t0001g0032 a0001c0001t0001g0033 others(122): Show a0001c0001t0001g0024 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0065 a0001c0001t0001g0079 a0001c0001t0001g0089 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0120 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0159 a0001c0001t0001g0163 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0171 a0001c0001t0001g0183 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0216 a0001c0001t0001g0219 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0232 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0252 a0001c0001t0002g0004 a0001c0001t0002g0038 a0001c0001t0002g0067 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0129 a0001c0001t0002g0133 a0001c0001t0002g0164 a0001c0001t0002g0182 a0001c0001t0002g0221 a0001c0001t0003g0003 a0001c0001t0003g0040 a0001c0001t0003g0043 a0001c0001t0003g0050 a0001c0001t0003g0131 a0001c0001t0003g0141 a0001c0001t0005g0091 a0001c0010t0001g0135 a0001c0012t0001g0229 a0001c0012t0001g0233 a0001c0016t0001g0249 a0002c0002t0001g0143 a0002c0002t0001g0162 a0002c0002t0001g0245 a0002c0002t0003g0028 a0002c0002t0009g0006 a0002c0002t0010g0116 a0002c0003t0001g0187 a0002c0003t0001g0189 a0002c0003t0001g0222 a0002c0003t0001g0223 a0002c0003t0001g0226 a0002c0003t0001g0230 a0002c0003t0001g0231 a0002c0003t0001g0235 a0002c0003t0001g0250 a0002c0003t0001g0251 a0002c0003t0002g0132 a0002c0003t0002g0238 a0002c0003t0002g0246 a0002c0003t0003g0042 a0002c0003t0003g0156 a0002c0003t0003g0234 a0002c0003t0003g0236 a0002c0003t0003g0244 a0002c0003t0011g0256 a0002c0004t0001g0064 a0002c0004t0001g0092 a0002c0004t0001g0093 a0002c0004t0001g0095 a0002c0004t0001g0130 a0002c0004t0001g0138 a0002c0004t0001g0169 a0002c0004t0002g0181 a0002c0004t0004g0157 a0002c0005t0001g0122 a0002c0005t0001g0217 a0002c0005t0001g0260 a0002c0005t0001g0261 a0002c0005t0001g0262 a0002c0006t0001g0172 a0002c0006t0002g0215 a0002c0007t0001g0225 a0002c0007t0001g0237 a0002c0008t0001g0253 a0002c0008t0008g0207 a0002c0009t0001g0247 a0002c0009t0003g0031 a0004c0013t0001g0045 a0006c0015t0002g0218 a0008c0021t0002g0220	125	262	0.4771	11	c.-7+ others(28): Show c.-7+22191_-7+22201dupTTTTTTTTTTT	GTF2IRD1	ENSG00000006704.11	transcript	ENST00000424337.7	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr7	TogoVar
GTF2IRD2B_chr7_75087590_75154817	75112118	A A	ACACACAC others(4): Show ACACACACACAC	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	170	0.0059	11	c.100 others(26): Show c.100-279_100-278insCACACACACAC	GTF2IRD2B	ENSG00000174428.19	transcript	ENST00000472837.7	protein_coding	2/15			chr7	TogoVar
GTF2IRD2B_chr7_75087590_75154817	75113781	G G	GTGTGTGT others(4): Show GTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	170	0.0059	11	c.238 others(28): Show c.238+1246_238+1247insTGTGTGTGTGT	GTF2IRD2B	ENSG00000174428.19	transcript	ENST00000472837.7	protein_coding	3/15			chr7	TogoVar
GTF2IRD2_chr7_74791151_74856605	74851349	C C	CGTCGGCG others(4): Show CGTCGGCGGGCG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0003 a0003c0005t0003	a0003c0005t0003g0001 a0003c0005t0003g0001	1	8	0.1250	11	c.-6+ others(22): Show c.-6+17_-6+18insCGCCCGCCGAC	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	1/15			chr7	TogoVar
GTF2I_chr7_74652718_74765692	74662511	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01169.hp2 HG02886.hp2 others(8): Show HG00140.hp1 HG01169.hp2 HG02886.hp2 HG03209.hp1 HG03704.hp2 NA18947.hp2 NA18960.hp1 NA19082.hp2 NA20129.hp1 NA20129.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 others(8): Show a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0061 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0002g0132	11	174	0.0632	11	c.-6+ others(26): Show c.-6+4462_-6+4472dupTTTTTTTTTTT	GTF2I	ENSG00000263001.8	transcript	ENST00000573035.6	protein_coding	1/34		INFO_REALIGN_3_PRIME	chr7	TogoVar
GTF2I_chr7_74652718_74765692	74677781	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02145.hp1 HG02896.hp2 others(3): Show HG01074.hp2 HG02145.hp1 HG02896.hp2 HG02897.hp1 HG03540.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0006 a0001c0001t0001g0030 a0001c0001t0001g0119 others(3): Show a0001c0001t0001g0006 a0001c0001t0001g0030 a0001c0001t0001g0119 a0002c0003t0001g0008 a0002c0003t0001g0009 a0002c0003t0001g0010	6	174	0.0345	11	c.-5- others(28): Show c.-5-11338_-5-11328dupAAAAAAAAAAA	GTF2I	ENSG00000263001.8	transcript	ENST00000573035.6	protein_coding	1/34		INFO_REALIGN_3_PRIME	chr7	TogoVar
GTF2I_chr7_74652718_74765692	74704293	T T	TTTATTTA others(4): Show TTTATTTATTTA	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0034 a0001c0001t0002g0034	1	174	0.0058	11	c.587 others(26): Show c.587-869_587-868insATTTATTTATT	GTF2I	ENSG00000263001.8	transcript	ENST00000573035.6	protein_coding	6/34		INFO_REALIGN_3_PRIME	chr7	TogoVar
GTF2I_chr7_74652718_74765692	74739024	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0010 a0002c0003t0001g0010	1	174	0.0058	11	c.167 others(28): Show c.1678+935_1678+945dupTTTTTTTTTTT	GTF2I	ENSG00000263001.8	transcript	ENST00000573035.6	protein_coding	19/34		INFO_REALIGN_3_PRIME	chr7	TogoVar
GTF2I_chr7_74652718_74765692	74761382	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp1 HG03239.hp1 NA18946.hp2 others(1): Show HG01175.hp1 HG03239.hp1 NA18946.hp2 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0107 a0001c0001t0002g0136 a0001c0001t0002g0161 others(1): Show a0001c0001t0002g0107 a0001c0001t0002g0136 a0001c0001t0002g0161 a0001c0001t0002g0167	4	174	0.0230	11	c.18 others(22): Show c.1852_*1853insTTTTTTTTTTT	GTF2I	ENSG00000263001.8	transcript	ENST00000573035.6	protein_coding		691		chr7	TogoVar
GTF3C3_chr2_196758035_196804683	196781353	A A	ATATATAT others(4): Show ATATATATATAT	intron_variant intron_variant	MODIFIER	HG02698.hp1 NA18981.hp1 NA19081.hp1 HG02698.hp1 NA18981.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0131 a0001c0001t0001g0139 a0001c0001t0001g0068 a0001c0001t0001g0131 a0001c0001t0001g0139	3	252	0.0119	11	c.111 others(28): Show c.1115-692_1115-691insATATATATATA	GTF3C3	ENSG00000119041.11	transcript	ENST00000263956.8	protein_coding	8/17			chr2	TogoVar
GTF3C3_chr2_196758035_196804683	196781355	A A	ATATATAT others(4): Show ATATATATATAT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp2 HG01168.hp1 others(6): Show HG01099.hp1 HG01099.hp2 HG01168.hp1 HG01975.hp1 HG02300.hp1 HG02300.hp2 HG03654.hp1 NA18971.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0032 a0001c0001t0001g0076 others(5): Show a0001c0001t0001g0013 a0001c0001t0001g0032 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0127 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143	9	252	0.0357	11	c.111 others(28): Show c.1115-694_1115-693insATATATATATA	GTF3C3	ENSG00000119041.11	transcript	ENST00000263956.8	protein_coding	8/17			chr2	TogoVar
GTF3C3_chr2_196758035_196804683	196781357	A A	AAATATAT others(4): Show AAATATATATAT	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19060.hp1 NA19085.hp1 others(1): Show NA19002.hp2 NA19060.hp1 NA19085.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0130 others(1): Show a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0130 a0001c0001t0001g0167	4	252	0.0159	11	c.111 others(28): Show c.1115-696_1115-695insATATATATATT	GTF3C3	ENSG00000119041.11	transcript	ENST00000263956.8	protein_coding	8/17			chr2	TogoVar
GTF3C3_chr2_196758035_196804683	196781357	A A	ATATATAT others(4): Show ATATATATATAT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01515.hp1 HG02027.hp2 others(7): Show HG01255.hp1 HG01515.hp1 HG02027.hp2 HG02109.hp2 NA18946.hp1 NA18982.hp1 NA18986.hp1 NA18992.hp2 NA19002.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0007 a0001c0001t0001g0083 a0001c0001t0001g0108 others(6): Show a0001c0001t0001g0007 a0001c0001t0001g0083 a0001c0001t0001g0108 a0001c0001t0001g0113 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0170 a0001c0001t0001g0222 a0001c0001t0004g0035	10	252	0.0397	11	c.111 others(28): Show c.1115-696_1115-695insATATATATATA	GTF3C3	ENSG00000119041.11	transcript	ENST00000263956.8	protein_coding	8/17			chr2	TogoVar
GTPBP10_chr7_90341716_90396453	90372482	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01175.hp2 HG01891.hp1 others(10): Show HG00423.hp1 HG01175.hp2 HG01891.hp1 HG02055.hp1 HG02074.hp2 HG02145.hp1 HG03195.hp2 HG04184.hp2 NA18990.hp2 NA19006.hp2 NA19030.hp2 NA19082.hp1 NA19090.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 others(1): Show a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 a0002c0002t0041	a0002c0002t0002g0049 a0002c0002t0002g0053 a0002c0002t0002g0203 others(8): Show a0002c0002t0002g0049 a0002c0002t0002g0053 a0002c0002t0002g0203 a0002c0002t0002g0204 a0002c0002t0004g0080 a0002c0002t0004g0213 a0002c0002t0004g0235 a0002c0002t0005g0222 a0002c0002t0005g0223 a0002c0002t0005g0227 a0002c0002t0041g0242	13	390	0.0333	11	c.538 others(26): Show c.538+259_538+269dupTTTTTTTTTTT	GTPBP10	ENSG00000105793.16	transcript	ENST00000222511.11	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
GTPBP1_chr22_38700944_38738587	38704273	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0149 a0001c0001t0025g0149	1	382	0.0026	11	c.-16 others(22): Show c.-1683_-1682insTTTTTTTTTTT	GTPBP1	ENSG00000100226.16	transcript	ENST00000216044.10	protein_coding		1670		chr22	TogoVar
GTPBP1_chr22_38700944_38738587	38704380	G G	GCCCCCCC others(4): Show GCCCCCCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18967.hp2 NA18993.hp1 NA18967.hp2 NA18993.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0014 a0001c0002t0004 a0001c0002t0014	a0001c0002t0004g0005 a0001c0002t0014g0003 a0001c0002t0004g0005 a0001c0002t0014g0003	2	382	0.0052	11	c.-15 others(22): Show c.-1576_-1575insCCCCCCCCCCC	GTPBP1	ENSG00000100226.16	transcript	ENST00000216044.10	protein_coding		1563		chr22	TogoVar
GTPBP4_chr10_983434_1024932	1024292	G G	GGTTGATA others(4): Show GGTTGATAGGTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0261 a0001c0001t0010g0261	1	370	0.0027	11	c.70 others(22): Show c.7065_*7066insGTTGATAGGTT	GTPBP4	ENSG00000107937.19	transcript	ENST00000360803.9	protein_coding		4361		chr10	TogoVar
GTPBP6_chrX_299759_323796	317696	A A	ACCCCACC others(4): Show ACCCCACCCCAC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0072 a0001c0003t0001g0072	1	155	0.0065	11	c.350 others(26): Show c.350-656_350-646dupGTGGGGTGGGG	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding	1/9			chrX	TogoVar
GUCA1ANB_chr6_42150406_42168418	42167665	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG02809.hp1 HG02818.hp2 others(1): Show HG02630.hp2 HG02809.hp1 HG02818.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0093 others(1): Show a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0093 a0001c0001t0001g0189	4	450	0.0089	11	c.44 others(22): Show c.4416_*4417insTTTTTTTTTTT	GUCA1ANB	ENSG00000287363.4	transcript	ENST00000623004.2	protein_coding		4248		chr6	TogoVar
GUCA1B_chr6_42178284_42199956	42188886	T T	TTCTATCT others(4): Show TTCTATCTATCA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0024 a0001c0010t0024	a0001c0010t0024g0154 a0001c0010t0024g0154	1	418	0.0024	11	c.208 others(26): Show c.208-156_208-155insTGATAGATAGA	GUCA1B	ENSG00000112599.9	transcript	ENST00000230361.4	protein_coding	1/3			chr6	TogoVar
GUCA1B_chr6_42178284_42199956	42188928	T T	TATATCTA others(4): Show TATATCTATATC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0136 a0001c0002t0001g0136	1	418	0.0024	11	c.208 others(26): Show c.208-198_208-197insGATATAGATAT	GUCA1B	ENSG00000112599.9	transcript	ENST00000230361.4	protein_coding	1/3			chr6	TogoVar
GUCA1B_chr6_42178284_42199956	42195329	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp2 HG01168.hp1 HG01192.hp2 others(9): Show HG01106.hp2 HG01168.hp1 HG01192.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG02015.hp2 HG03017.hp2 HG03927.hp1 HG04228.hp2 NA19085.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0009 a0001c0001t0002g0016 others(1): Show a0001c0001t0002g0002 a0001c0001t0002g0009 a0001c0001t0002g0016 a0001c0001t0002g0033	12	418	0.0287	11	c.-51 others(20): Show c.-510_-509insTTTTTTTTTTT	GUCA1B	ENSG00000112599.9	transcript	ENST00000230361.4	protein_coding		374		chr6	TogoVar

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