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
GSG1L2_chr17_9795608_9827079	9816876	G G	GTGTATCT others(25): Show GTGTATCTGTGTGTGTATCTGTGTGTGTGTCTC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01167.hp1 HG01169.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0143 a0001c0004t0001g0144 a0001c0004t0001g0143 a0001c0004t0001g0144	2	474	0.0042	32	c.310 others(49): Show c.310+4885_310+4886insGAGACACACACACAGATACACACACAGA TACA	GSG1L2	ENSG00000214978.8	transcript	ENST00000399363.5	protein_coding	1/4			chr17	TogoVar
GSG1L_chr16_27782528_28068714	27911266	G G	GCTCGCTC others(25): Show GCTCGCTCTCTCTCTCTCTCTCTCGCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02486.hp1 HG02717.hp2 HG01243.hp1 HG02486.hp1 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0018 a0001c0002t0018 a0001c0002t0037 a0001c0001t0018 a0001c0002t0018 a0001c0002t0037	a0001c0001t0018g0058 a0001c0002t0018g0107 a0001c0002t0037g0018 a0001c0001t0018g0058 a0001c0002t0018g0107 a0001c0002t0037g0018	3	240	0.0125	32	c.398 others(51): Show c.398-26629_398-26628insAGAGAGAGCGAGAGAGAGAGAGAGAG AGCGAG	GSG1L	ENSG00000169181.13	transcript	ENST00000447459.7	protein_coding	2/6			chr16	TogoVar
GSG1L_chr16_27782528_28068714	27979642	G G	GGAAAGAA others(25): Show GGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03209.hp1 HG02965.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0002t0004 a0001c0001t0006 a0001c0002t0004	a0001c0001t0006g0106 a0001c0002t0004g0226 a0001c0001t0006g0106 a0001c0002t0004g0226	2	240	0.0083	32	c.350 others(51): Show c.350-16440_350-16439insTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTC	GSG1L	ENSG00000169181.13	transcript	ENST00000447459.7	protein_coding	1/6			chr16	TogoVar
GSG1L_chr16_27782528_28068714	28015187	A A	AGGGTCTG others(25): Show AGGGTCTGGGCGACACCATATCTAATGTGGGAT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0227 a0001c0001t0004g0227	1	240	0.0042	32	c.349 others(51): Show c.349+47888_349+47889insATCCCACATTAGATATGGTGTCGCCC AGACCC	GSG1L	ENSG00000169181.13	transcript	ENST00000447459.7	protein_coding	1/6			chr16	TogoVar
GSTM2_chr1_109663057_109680286	109678230	T T	TGCCTCCT others(25): Show TGCCTCCTGGGTTCAAGCGATTCTCTTGCCTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	356	0.0028	32	c.33 others(43): Show c.3394_*3395insGCCTCCTGGGTTCAAGCGATTCTCTTGCCTCA	GSTM2	ENSG00000213366.13	transcript	ENST00000241337.9	protein_coding		2945		chr1	TogoVar
GSTO2_chr10_104264184_104309950	104293563	A A	ATTTTTTT others(25): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0231 a0001c0004t0005g0231	1	300	0.0033	32	c.469 others(49): Show c.469-3993_469-3992insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	GSTO2	ENSG00000065621.15	transcript	ENST00000338595.7	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
GTF2F2_chr13_45115510_45289893	45191224	A A	AAAAAAAA others(25): Show AAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	210	0.0048	32	c.305 others(51): Show c.305-16199_305-16198insAAAAAAAAAATATATATATATATATA TATATA	GTF2F2	ENSG00000188342.13	transcript	ENST00000340473.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GTF2F2_chr13_45115510_45289893	45191224	A A	AAAAAAAA others(25): Show AAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	210	0.0048	32	c.305 others(51): Show c.305-16199_305-16198insAAAAAATATATATATATATATATATA TATATA	GTF2F2	ENSG00000188342.13	transcript	ENST00000340473.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GTF2F2_chr13_45115510_45289893	45191224	A A	AAAAAATA others(25): Show AAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	210	0.0048	32	c.305 others(51): Show c.305-16199_305-16198insAAAATATATATATATATATATATATA TATATA	GTF2F2	ENSG00000188342.13	transcript	ENST00000340473.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GTF2F2_chr13_45115510_45289893	45191255	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATATGGC	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	210	0.0048	32	c.305 others(51): Show c.305-16169_305-16168insTATATATATATATATATATATATATA TATGGC	GTF2F2	ENSG00000188342.13	transcript	ENST00000340473.8	protein_coding	4/7			chr13	TogoVar
GTF2F2_chr13_45115510_45289893	45212446	T T	TTCTTGTT others(25): Show TTCTTGTTTCTTTCTTTCTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	210	0.0048	32	c.386 others(49): Show c.386+4941_386+4942insTCTTGTTTCTTTCTTTCTTTTCTTTTCT TTTC	GTF2F2	ENSG00000188342.13	transcript	ENST00000340473.8	protein_coding	5/7			chr13	TogoVar
GTF2F2_chr13_45115510_45289893	45228283	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG03490.hp1 HG03540.hp1 others(1): Show HG01099.hp2 HG03490.hp1 HG03540.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0084 a0001c0001t0001g0087 others(1): Show a0001c0001t0001g0049 a0001c0001t0001g0084 a0001c0001t0001g0087 a0001c0001t0001g0089	4	210	0.0191	32	c.386 others(51): Show c.386+20794_386+20795insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	GTF2F2	ENSG00000188342.13	transcript	ENST00000340473.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GTF2H5_chr6_158163350_158204344	158175022	G G	GTGTGTGT others(25): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTATATA	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0164 a0001c0001t0013g0164	1	384	0.0026	32	c.35+ others(47): Show c.35+4507_35+4508insGTGTATATATGTGTGTGTGTGTGTGTGTGT GT	GTF2H5	ENSG00000272047.4	transcript	ENST00000607778.2	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
GTF2H5_chr6_158163350_158204344	158175044	G G	GTGTATAT others(25): Show GTGTATATATGTGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01934.hp1 others(10): Show HG01069.hp2 HG01071.hp2 HG01934.hp1 HG01943.hp2 HG02300.hp1 HG02602.hp1 HG03654.hp1 NA18956.hp1 NA18975.hp2 NA18983.hp1 NA18994.hp2 NA19082.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0013 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0013 a0001c0001t0113 a0001c0001t0115	a0001c0001t0001g0029 a0001c0001t0001g0127 a0001c0001t0001g0128 others(9): Show a0001c0001t0001g0029 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0177 a0001c0001t0001g0182 a0001c0001t0005g0169 a0001c0001t0005g0176 a0001c0001t0013g0145 a0001c0001t0113g0168 a0001c0001t0115g0189	13	384	0.0339	32	c.35+ others(47): Show c.35+4507_35+4508insGTATATATGTGTGTGTGTGTGTGTGTGTGT AT	GTF2H5	ENSG00000272047.4	transcript	ENST00000607778.2	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
GTF2H5_chr6_158163350_158204344	158175044	G G	GTGTGTGT others(25): Show GTGTGTGTGTATATGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0106 a0001c0001t0106	a0001c0001t0106g0066 a0001c0001t0106g0066	1	384	0.0026	32	c.35+ others(47): Show c.35+4507_35+4508insGTGTGTGTATATGTGTGTGTGTGTGTGTGT AT	GTF2H5	ENSG00000272047.4	transcript	ENST00000607778.2	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
GTF2H5_chr6_158163350_158204344	158175044	G G	GTGTGTGT others(25): Show GTGTGTGTGTGTGTGTATGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02559.hp1 HG03139.hp1 HG01109.hp1 HG02559.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0100 a0001c0001t0104 a0001c0001t0011 a0001c0001t0100 a0001c0001t0104	a0001c0001t0011g0064 a0001c0001t0100g0194 a0001c0001t0104g0060 a0001c0001t0011g0064 a0001c0001t0100g0194 a0001c0001t0104g0060	3	384	0.0078	32	c.35+ others(47): Show c.35+4507_35+4508insGTGTGTGTGTGTGTATGTGTGTGTGTGTGT AT	GTF2H5	ENSG00000272047.4	transcript	ENST00000607778.2	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
GTF2I_chr7_74652718_74765692	74680099	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0016 a0001c0001t0003g0016	1	174	0.0058	32	c.-5- others(47): Show c.-5-9024_-5-9023insAAAAAAAAAAAATATATATATATATATATA TA	GTF2I	ENSG00000263001.8	transcript	ENST00000573035.6	protein_coding	1/34		INFO_REALIGN_3_PRIME	chr7	TogoVar
GTF3C2_chr2_27320854_27361764	27358735	C C	CACCTCTC others(25): Show CACCTCTCTACCTCTCTACCTCTCTACCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00597.hp2 others(61): Show HG00099.hp2 HG00323.hp1 HG00597.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01074.hp2 HG01106.hp1 HG01106.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01515.hp2 HG01517.hp1 HG01928.hp1 HG01934.hp1 HG01952.hp2 HG01981.hp1 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02129.hp1 HG02132.hp1 HG02145.hp1 HG02300.hp1 HG02300.hp2 HG02572.hp2 HG02630.hp1 HG02886.hp1 HG03041.hp2 HG03490.hp1 HG03491.hp2 HG03516.hp1 HG03669.hp1 HG03688.hp1 HG03831.hp1 HG03927.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04228.hp1 NA18747.hp1 NA18939.hp1 NA18950.hp2 NA18966.hp2 NA18981.hp1 NA18983.hp2 NA18990.hp2 NA19030.hp1 NA19076.hp2 NA19079.hp2 NA19084.hp1 NA19085.hp1 NA19088.hp2 NA19091.hp1 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0062 a0001c0002t0001g0001 a0001c0002t0001g0005 others(46): Show a0001c0001t0001g0062 a0001c0002t0001g0001 a0001c0002t0001g0005 a0001c0002t0001g0007 a0001c0002t0001g0008 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0019 a0001c0002t0001g0021 a0001c0002t0001g0023 a0001c0002t0001g0024 a0001c0002t0001g0161 a0001c0002t0001g0162 a0001c0002t0001g0164 a0001c0002t0001g0167 a0001c0002t0001g0169 a0001c0002t0001g0170 a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0002t0001g0174 a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0187 a0001c0002t0001g0188 a0001c0002t0001g0189 a0001c0002t0001g0191 a0001c0002t0001g0192 a0001c0002t0001g0194 a0001c0002t0001g0206 a0001c0002t0001g0209 a0001c0002t0001g0213 a0001c0002t0001g0214 a0001c0002t0001g0215 a0001c0002t0001g0216 a0001c0002t0001g0217 a0001c0002t0001g0218 a0001c0002t0001g0220 a0001c0002t0001g0221 a0001c0002t0001g0223 a0001c0002t0001g0239	64	286	0.2238	32	c.-20 others(43): Show c.-2022_-2021insAGAGAGGTAGAGAGGTAGAGAGGTAGAGAGGT	GTF3C2	ENSG00000115207.15	transcript	ENST00000264720.8	protein_coding		1972		chr2	TogoVar
GTF3C3_chr2_196758035_196804683	196781357	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0199 a0001c0001t0002g0199	1	252	0.0040	32	c.111 others(49): Show c.1115-696_1115-695insATATATATATATATTTTTTTTTTTTTTT TTTT	GTF3C3	ENSG00000119041.11	transcript	ENST00000263956.8	protein_coding	8/17			chr2	TogoVar
GTPBP1_chr22_38700944_38738587	38731010	T T	TTGTGTGT others(25): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0132 a0001c0001t0040g0132	1	382	0.0026	32	c.31 others(41): Show c.315_*346dupTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	GTPBP1	ENSG00000100226.16	transcript	ENST00000216044.10	protein_coding	12/12	347	INFO_REALIGN_3_PRIME	chr22	TogoVar
GTPBP6_chrX_299759_323796	311185	T T	TTGTGTGG others(25): Show TTGTGTGGGTGTCCGAAGGCCCGGCCCCTGGGC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00558.hp2 others(76): Show HG00408.hp2 HG00423.hp1 HG00558.hp2 HG00639.hp2 HG00733.hp1 HG00735.hp1 HG00741.hp2 HG01070.hp2 HG01074.hp2 HG01109.hp2 HG01167.hp1 HG01169.hp1 HG01175.hp2 HG01361.hp1 HG01361.hp2 HG01515.hp1 HG01943.hp1 HG01993.hp1 HG01993.hp2 HG02027.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp2 HG02129.hp2 HG02155.hp2 HG02273.hp1 HG02273.hp2 HG02300.hp1 HG02451.hp1 HG02486.hp1 HG02615.hp2 HG03130.hp2 HG03195.hp1 HG03490.hp2 HG03491.hp2 HG03831.hp1 HG03834.hp1 HG04115.hp2 HG04228.hp1 NA18906.hp1 NA18941.hp2 NA18949.hp1 NA18950.hp1 NA18952.hp1 NA18953.hp1 NA18956.hp1 NA18957.hp1 NA18960.hp2 NA18973.hp1 NA18973.hp2 NA18984.hp1 NA18985.hp1 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18999.hp1 NA19000.hp1 NA19002.hp1 NA19011.hp1 NA19011.hp2 NA19055.hp2 NA19062.hp1 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19070.hp1 NA19077.hp1 NA19078.hp1 NA19078.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp2 NA19082.hp1 NA19089.hp1 NA20805.hp1	a0001 a0002 a0003 others(14): Show a0001 a0002 a0003 a0004 a0005 a0009 a0010 a0012 a0013 a0015 a0020 a0022 a0023 a0025 a0026 a0027 a0028	a0001c0001 a0001c0003 a0002c0002 others(18): Show a0001c0001 a0001c0003 a0002c0002 a0002c0005 a0002c0036 a0003c0004 a0003c0039 a0004c0007 a0005c0010 a0009c0012 a0010c0031 a0012c0013 a0013c0016 a0015c0022 a0020c0025 a0022c0033 a0023c0035 a0025c0020 a0026c0018 a0027c0040 a0028c0017	a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 a0001c0003t0003 a0002c0002t0002 a0002c0005t0002 a0002c0036t0001 a0003c0004t0001 a0003c0004t0002 a0003c0039t0002 a0004c0007t0002 a0005c0010t0001 a0009c0012t0002 a0010c0031t0005 a0012c0013t0001 a0013c0016t0002 a0015c0022t0004 a0020c0025t0002 a0022c0033t0002 a0023c0035t0004 a0025c0020t0002 a0026c0018t0002 a0027c0040t0002 a0028c0017t0002	a0001c0001t0001g0002 a0001c0001t0001g0039 a0001c0001t0001g0045 others(72): Show a0001c0001t0001g0002 a0001c0001t0001g0039 a0001c0001t0001g0045 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0027 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0040 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0047 a0001c0001t0002g0050 a0001c0001t0002g0052 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0069 a0001c0003t0002g0084 a0001c0003t0002g0085 a0001c0003t0003g0028 a0001c0003t0003g0145 a0002c0002t0002g0125 a0002c0005t0002g0006 a0002c0005t0002g0121 a0002c0005t0002g0123 a0002c0005t0002g0130 a0002c0036t0001g0071 a0003c0004t0001g0086 a0003c0004t0001g0089 a0003c0004t0001g0091 a0003c0004t0001g0092 a0003c0004t0002g0080 a0003c0004t0002g0087 a0003c0004t0002g0088 a0003c0004t0002g0090 a0003c0004t0002g0093 a0003c0004t0002g0095 a0003c0004t0002g0096 a0003c0004t0002g0099 a0003c0004t0002g0100 a0003c0039t0002g0094 a0004c0007t0002g0012 a0004c0007t0002g0014 a0004c0007t0002g0025 a0005c0010t0001g0024 a0009c0012t0002g0041 a0009c0012t0002g0042 a0010c0031t0005g0104 a0012c0013t0001g0134 a0013c0016t0002g0009 a0015c0022t0004g0103 a0020c0025t0002g0051 a0022c0033t0002g0140 a0023c0035t0004g0147 a0025c0020t0002g0026 a0026c0018t0002g0018 a0027c0040t0002g0148 a0028c0017t0002g0010	79	155	0.5097	32	c.112 others(49): Show c.1125+233_1125+234insGCCCAGGGGCCGGGCCTTCGGACACCCA CACA	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding	7/9			chrX	TogoVar
GTPBP6_chrX_299759_323796	311198	T T	TGAAGGCC others(25): Show TGAAGGCCCGGCCCCTGGGCTGAGTGGGTGTCC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0021 a0021	a0021c0027 a0021c0027	a0021c0027t0004 a0021c0027t0004	a0021c0027t0004g0083 a0021c0027t0004g0083	1	155	0.0065	32	c.112 others(49): Show c.1125+220_1125+221insGGACACCCACTCAGCCCAGGGGCCGGGC CTTC	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding	7/9			chrX	TogoVar
GUCA1A_chr6_42168364_42185056	42182828	G G	GCTTCCTT others(25): Show GCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0061 a0001c0001t0013g0061	1	412	0.0024	32	c.34 others(43): Show c.3425_*3426insCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC	GUCA1A	ENSG00000048545.18	transcript	ENST00000372958.2	protein_coding		2773		chr6	TogoVar
GUCA1B_chr6_42178284_42199956	42182828	G G	GCTTCCTT others(25): Show GCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0167 a0001c0002t0009g0167	1	418	0.0024	32	c.19 others(43): Show c.1986_*1987insGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	GUCA1B	ENSG00000112599.9	transcript	ENST00000230361.4	protein_coding		455		chr6	TogoVar
GUCA1B_chr6_42178284_42199956	42188902	A A	ATCTATCT others(25): Show ATCTATCTATCTATCTATCTATCTATCTATATC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02922.hp2 HG02976.hp1 others(4): Show HG02572.hp2 HG02922.hp2 HG02976.hp1 HG03041.hp2 HG03195.hp1 NA19240.hp2 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0009 a0001c0002t0005 a0001c0002t0009	a0001c0002t0005g0023 a0001c0002t0005g0036 a0001c0002t0005g0110 others(1): Show a0001c0002t0005g0023 a0001c0002t0005g0036 a0001c0002t0005g0110 a0001c0002t0009g0166	7	418	0.0168	32	c.208 others(47): Show c.208-172_208-171insGATATAGATAGATAGATAGATAGATAGATA GA	GUCA1B	ENSG00000112599.9	transcript	ENST00000230361.4	protein_coding	1/3			chr6	TogoVar
GUCY1A2_chr11_106669019_107023476	106698119	A A	ATTTTTTT others(25): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp2 HG02622.hp2 others(1): Show HG02145.hp1 HG02145.hp2 HG02622.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0004 a0001c0001t0036 a0001c0002t0039 others(1): Show a0001c0001t0004 a0001c0001t0036 a0001c0002t0039 a0001c0003t0004	a0001c0001t0004g0116 a0001c0001t0036g0115 a0001c0002t0039g0215 others(1): Show a0001c0001t0004g0116 a0001c0001t0036g0115 a0001c0002t0039g0215 a0001c0003t0004g0235	4	256	0.0156	32	c.199 others(53): Show c.1992-10364_1992-10363insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	7/7			chr11	TogoVar
GUCY1A2_chr11_106669019_107023476	106909355	C C	CTGTGTGT others(25): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0069 a0001c0001t0028g0069	1	256	0.0039	32	c.120 others(53): Show c.1206+30073_1206+30104dupCACACACACACACACACACACACA CACACACA	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	4/7			chr11	TogoVar
GUCY1A2_chr11_106669019_107023476	106944215	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02622.hp1 HG02976.hp1 HG02258.hp2 HG02622.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0016 a0001c0001t0009 a0001c0001t0016	a0001c0001t0009g0051 a0001c0001t0009g0052 a0001c0001t0016g0167 a0001c0001t0009g0051 a0001c0001t0009g0052 a0001c0001t0016g0167	3	256	0.0117	32	c.488 others(49): Show c.488-4038_488-4037insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	3/7			chr11	TogoVar
GXYLT1_chr12_42076845_42149874	42098760	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02083.hp2 NA19002.hp2 others(1): Show HG00738.hp2 HG02083.hp2 NA19002.hp2 NA19057.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0003 a0001c0003t0001 a0001c0002t0003 a0001c0003t0001	a0001c0002t0003g0199 a0001c0003t0001g0132 a0001c0003t0001g0134 others(1): Show a0001c0002t0003g0199 a0001c0003t0001g0132 a0001c0003t0001g0134 a0001c0003t0001g0140	4	398	0.0101	32	c.865 others(47): Show c.865-728_865-727insATATATATATATATATATATATATATATAT AT	GXYLT1	ENSG00000151233.11	transcript	ENST00000398675.8	protein_coding	5/7			chr12	TogoVar
GYPE_chr4_143865864_143910559	143883511	T T	TAATTTAT others(25): Show TAATTTATAATTAATAATATGTAATTAATTATA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	398	0.0025	32	c.38- others(47): Show c.38-3003_38-3002insTATAATTAATTACATATTATTAATTATAAA TT	GYPE	ENSG00000197465.14	transcript	ENST00000358615.9	protein_coding	1/3			chr4	TogoVar
H1-8_chr3_129538175_129556467	129538525	C C	CCCTCCCT others(25): Show CCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp2 HG02027.hp2 HG02486.hp1 HG00673.hp2 HG02027.hp2 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0080 a0001c0001t0001g0036 a0001c0001t0001g0080	3	422	0.0071	32	c.-46 others(43): Show c.-4694_-4693insCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTT	H1-8	ENSG00000178804.8	transcript	ENST00000324382.7	protein_coding		4649		chr3	TogoVar
H1-8_chr3_129538175_129556467	129538525	C C	CCCTCCCT others(25): Show CCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp2 HG02523.hp1 NA19003.hp2 others(1): Show HG02040.hp2 HG02523.hp1 NA19003.hp2 NA19077.hp1	a0001 a0012 a0001 a0012	a0001c0001 a0012c0021 a0001c0001 a0012c0021	a0001c0001t0001 a0012c0021t0001 a0001c0001t0001 a0012c0021t0001	a0001c0001t0001g0001 a0001c0001t0001g0027 a0001c0001t0001g0087 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0027 a0001c0001t0001g0087 a0012c0021t0001g0001	4	422	0.0095	32	c.-46 others(43): Show c.-4694_-4693insCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTT	H1-8	ENSG00000178804.8	transcript	ENST00000324382.7	protein_coding		4649		chr3	TogoVar
H1-8_chr3_129538175_129556467	129538525	C C	CCCTCCCT others(25): Show CCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 HG02257.hp2 HG02922.hp1 others(1): Show HG00673.hp1 HG02257.hp2 HG02922.hp1 NA19086.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0004 a0001c0001 a0002c0002 a0003c0004	a0001c0001t0001 a0002c0002t0001 a0003c0004t0001 a0001c0001t0001 a0002c0002t0001 a0003c0004t0001	a0001c0001t0001g0001 a0002c0002t0001g0010 a0003c0004t0001g0028 a0001c0001t0001g0001 a0002c0002t0001g0010 a0003c0004t0001g0028	4	422	0.0095	32	c.-46 others(43): Show c.-4694_-4693insCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTT	H1-8	ENSG00000178804.8	transcript	ENST00000324382.7	protein_coding		4649		chr3	TogoVar
H1-8_chr3_129538175_129556467	129538525	C C	CCCTCCCT others(25): Show CCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG01981.hp1 HG02083.hp1 others(8): Show HG00639.hp1 HG01981.hp1 HG02083.hp1 HG02129.hp1 HG02630.hp1 HG02723.hp1 HG03139.hp1 NA18939.hp1 NA18957.hp1 NA18966.hp1 NA19056.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0004 a0002c0002 a0003c0004	a0002c0002t0001 a0002c0002t0005 a0003c0004t0001 a0002c0002t0001 a0002c0002t0005 a0003c0004t0001	a0002c0002t0001g0003 a0002c0002t0001g0010 a0002c0002t0001g0013 others(6): Show a0002c0002t0001g0003 a0002c0002t0001g0010 a0002c0002t0001g0013 a0002c0002t0001g0025 a0002c0002t0005g0048 a0003c0004t0001g0008 a0003c0004t0001g0024 a0003c0004t0001g0042 a0003c0004t0001g0097	11	422	0.0261	32	c.-46 others(43): Show c.-4694_-4693insCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTT	H1-8	ENSG00000178804.8	transcript	ENST00000324382.7	protein_coding		4649		chr3	TogoVar
H1-8_chr3_129538175_129556467	129538525	C C	CCCTCCCT others(25): Show CCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG01346.hp2 HG02109.hp2 others(11): Show HG00423.hp1 HG01346.hp2 HG02109.hp2 HG02135.hp1 HG02486.hp2 HG02717.hp2 HG03491.hp1 HG03834.hp1 HG04115.hp1 NA18906.hp2 NA18943.hp1 NA19007.hp2 NA19056.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0002 a0001c0001 a0001c0005 a0002c0002	a0001c0001t0001 a0001c0005t0001 a0002c0002t0001 a0001c0001t0001 a0001c0005t0001 a0002c0002t0001	a0001c0001t0001g0074 a0001c0005t0001g0009 a0001c0005t0001g0075 others(4): Show a0001c0001t0001g0074 a0001c0005t0001g0009 a0001c0005t0001g0075 a0002c0002t0001g0003 a0002c0002t0001g0010 a0002c0002t0001g0013 a0002c0002t0001g0031	14	422	0.0332	32	c.-46 others(43): Show c.-4694_-4693insCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTT	H1-8	ENSG00000178804.8	transcript	ENST00000324382.7	protein_coding		4649		chr3	TogoVar
H1-8_chr3_129538175_129556467	129538525	C C	CCCTCCCT others(25): Show CCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02630.hp2 HG02897.hp1 HG02280.hp1 HG02630.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0039 a0001c0005t0001g0009 a0001c0001t0001g0039 a0001c0005t0001g0009	3	422	0.0071	32	c.-46 others(43): Show c.-4694_-4693insCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTT	H1-8	ENSG00000178804.8	transcript	ENST00000324382.7	protein_coding		4649		chr3	TogoVar
H1-8_chr3_129538175_129556467	129538525	C C	CCCTTCCT others(25): Show CCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0082 a0002c0002t0001g0082	1	422	0.0024	32	c.-46 others(43): Show c.-4694_-4693insCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	H1-8	ENSG00000178804.8	transcript	ENST00000324382.7	protein_coding		4649		chr3	TogoVar
H2AC4_chr6_26028092_26038618	26031152	G G	GTATATAT others(25): Show GTATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	406	0.0025	32	c.20 others(43): Show c.2023_*2024insTATATATATATATATATATATATATATATATA	H2AC4	ENSG00000278463.2	transcript	ENST00000615868.2	protein_coding		1939		chr6	TogoVar
H3C2_chr6_26026589_26037099	26031152	G G	GTATATAT others(25): Show GTATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	396	0.0025	32	c.49 others(41): Show c.497_*498insTATATATATATATATATATATATATATATATA	H3C2	ENSG00000286522.2	transcript	ENST00000621411.3	protein_coding		436		chr6	TogoVar
H3Y2_chr5_17485967_17497076	17493385	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00408.hp1 HG00558.hp1 others(62): Show HG00099.hp2 HG00408.hp1 HG00558.hp1 HG00558.hp2 HG00639.hp1 HG00738.hp1 HG01074.hp1 HG01167.hp1 HG01175.hp1 HG01192.hp2 HG01255.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01934.hp1 HG01943.hp1 HG01981.hp2 HG02004.hp1 HG02055.hp1 HG02109.hp2 HG02135.hp2 HG02273.hp1 HG02273.hp2 HG02630.hp2 HG02698.hp1 HG02717.hp2 HG02818.hp1 HG02886.hp2 HG03041.hp2 HG03540.hp2 HG03669.hp1 HG03704.hp2 HG03710.hp2 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04204.hp1 HG04204.hp2 NA18747.hp2 NA18942.hp2 NA18943.hp2 NA18948.hp1 NA18969.hp2 NA18977.hp2 NA18983.hp1 NA18989.hp1 NA18994.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19002.hp2 NA19005.hp1 NA19054.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19058.hp2 NA19060.hp1 NA19066.hp1 NA19068.hp2 NA19075.hp1 NA19079.hp2 NA19080.hp1 NA19240.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0009 a0001c0001 a0001c0002 a0004c0009	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0004c0009t0001	a0001c0001t0001g0000 a0001c0001t0003g0000 a0001c0002t0001g0000 others(1): Show a0001c0001t0001g0000 a0001c0001t0003g0000 a0001c0002t0001g0000 a0004c0009t0001g0000	65	400	0.1625	32	c.-16 others(43): Show c.-1618_-1617insATATATATATATATATATATATATATATATAT	H3Y2	ENSG00000268799.4	transcript	ENST00000600799.3	protein_coding		1310		chr5	TogoVar
H4C14_chr1_149827657_149838052	149827821	T T	TTTTCTTT others(25): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	236	0.0042	32	c.-48 others(43): Show c.-4864_-4863insTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	H4C14	ENSG00000270882.3	transcript	ENST00000578186.3	protein_coding		4835		chr1	TogoVar
H4C2_chr6_26021896_26032283	26031152	G G	GTATATAT others(25): Show GTATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0000 a0001c0002t0002g0000	1	400	0.0025	32	c.-39 others(43): Show c.-3901_-3900insTATATATATATATATATATATATATATATATA	H4C2	ENSG00000278705.3	transcript	ENST00000377745.5	protein_coding		3870		chr6	TogoVar
H4C5_chr6_26199610_26210021	26208838	A A	AGAGAAAG others(25): Show AGAGAAAGATATGAAAGATATGAAATAGGCAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	408	0.0025	32	c.38 others(43): Show c.3882_*3883insGAGAAAGATATGAAAGATATGAAATAGGCAGT	H4C5	ENSG00000276966.3	transcript	ENST00000615164.3	protein_coding		3818		chr6	TogoVar
HACL1_chr3_15555699_15606569	15592239	T T	TATACATA others(25): Show TATACATACGTGTATATATGGATCCATATATGC	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	428	0.0023	32	c.228 others(47): Show c.228-560_228-559insGCATATATGGATCCATATATACACGTATGT AT	HACL1	ENSG00000131373.15	transcript	ENST00000321169.10	protein_coding	3/16			chr3	TogoVar
HACL1_chr3_15555699_15606569	15592295	C C	CATACGTA others(25): Show CATACGTATATATATGTATACATATATGTATAT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	428	0.0023	32	c.228 others(47): Show c.228-647_228-616dupATATACATATATGTATACATATATATACGT AT	HACL1	ENSG00000131373.15	transcript	ENST00000321169.10	protein_coding	3/16			chr3	TogoVar
HACL1_chr3_15555699_15606569	15592360	A A	ATGTATAC others(25): Show ATGTATACATACAGACACACGTATACACACACG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	428	0.0023	32	c.228 others(47): Show c.228-712_228-681dupCGTGTGTGTATACGTGTGTCTGTATGTATA CA	HACL1	ENSG00000131373.15	transcript	ENST00000321169.10	protein_coding	3/16			chr3	TogoVar
HACL1_chr3_15555699_15606569	15592371	C C	CAGACACA others(25): Show CAGACACACGTATACACACACGTGTATACATGT	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	428	0.0023	32	c.228 others(47): Show c.228-723_228-692dupACATGTATACACGTGTGTGTATACGTGTGT CT	HACL1	ENSG00000131373.15	transcript	ENST00000321169.10	protein_coding	3/16			chr3	TogoVar
HADHB_chr2_26239939_26295465	26266871	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	290	0.0035	32	c.210 others(49): Show c.210-3059_210-3058insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	HADHB	ENSG00000138029.14	transcript	ENST00000317799.10	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
HAO1_chr20_7877985_7945458	7909360	C C	CATATATA others(25): Show CATATATATATATATATATATATGTATATATAT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	348	0.0029	32	c.546 others(49): Show c.546-3032_546-3031insATATATATACATATATATATATATATAT ATAT	HAO1	ENSG00000101323.5	transcript	ENST00000378789.4	protein_coding	3/7			chr20	TogoVar
HAO1_chr20_7877985_7945458	7909383	A A	ATGTATAT others(25): Show ATGTATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02258.hp2 HG02280.hp1 HG01243.hp2 HG02258.hp2 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0072	3	348	0.0086	32	c.546 others(49): Show c.546-3055_546-3054insCATATATATATATATATATATATATATA TACA	HAO1	ENSG00000101323.5	transcript	ENST00000378789.4	protein_coding	3/7			chr20	TogoVar

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