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
ASTN2_chr9_116418112_117420057	117211938	C C	CCGATACA others(5): Show CCGATACAGATAG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0075 a0001c0001t0016g0075	1	102	0.0098	12	c.101 others(31): Show c.1015+2419_1015+2420insCTATCTGTATCG	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	3/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	117225535	G G	GTATATAT others(5): Show GTATATATATATA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0046 a0001c0002t0002g0046	1	102	0.0098	12	c.631 others(31): Show c.631-10805_631-10794dupTATATATATATA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	2/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	117298670	G G	GTATATAT others(5): Show GTATATATATATA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0048 a0001c0005t0005g0048	1	102	0.0098	12	c.443 others(29): Show c.443-7169_443-7158dupTATATATATATA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	1/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	117346010	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01243.hp1 HG01261.hp2 others(13): Show HG00099.hp2 HG01243.hp1 HG01261.hp2 HG02698.hp1 HG02809.hp2 HG03130.hp2 NA18906.hp2 NA18959.hp2 NA19012.hp2 NA19043.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA20752.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0008 a0001c0012 a0001c0022 a0002c0004 a0007c0018	a0001c0001t0001 a0001c0001t0008 a0001c0002t0002 others(9): Show a0001c0001t0001 a0001c0001t0008 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0003t0003 a0001c0005t0005 a0001c0008t0005 a0001c0012t0001 a0001c0022t0001 a0002c0004t0006 a0007c0018t0003	a0001c0001t0001g0015 a0001c0001t0001g0095 a0001c0001t0008g0008 others(13): Show a0001c0001t0001g0015 a0001c0001t0001g0095 a0001c0001t0008g0008 a0001c0002t0002g0061 a0001c0002t0003g0021 a0001c0002t0003g0022 a0001c0002t0003g0041 a0001c0002t0003g0094 a0001c0002t0004g0062 a0001c0003t0003g0030 a0001c0005t0005g0048 a0001c0008t0005g0081 a0001c0012t0001g0098 a0001c0022t0001g0020 a0002c0004t0006g0003 a0007c0018t0003g0031	16	102	0.1569	12	c.443 others(31): Show c.443-54509_443-54498dupTTTTTTTTTTTT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	1/22			chr9	TogoVar
ASXL1_chr20_32353331_32444319	32377972	C C	CTGTGTGT others(5): Show CTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01361.hp2 HG02055.hp1 others(4): Show HG00733.hp2 HG01361.hp2 HG02055.hp1 HG02818.hp2 HG03139.hp2 HG03209.hp2 HG06807.hp2	a0001 a0005 a0001 a0005	a0001c0002 a0001c0005 a0005c0021 a0001c0002 a0001c0005 a0005c0021	a0001c0002t0002 a0001c0002t0007 a0001c0005t0015 others(1): Show a0001c0002t0002 a0001c0002t0007 a0001c0005t0015 a0005c0021t0003	a0001c0002t0002g0236 a0001c0002t0007g0029 a0001c0002t0007g0261 others(4): Show a0001c0002t0002g0236 a0001c0002t0007g0029 a0001c0002t0007g0261 a0001c0002t0007g0262 a0001c0002t0007g0263 a0001c0005t0015g0184 a0005c0021t0003g0193	7	282	0.0248	12	c.252 others(29): Show c.252+8869_252+8880dupGTGTGTGTGTGT	ASXL1	ENSG00000171456.22	transcript	ENST00000375687.10	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
ASXL1_chr20_32353331_32444319	32378158	T T	TTGTGTGT others(5): Show TTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01109.hp2 HG02109.hp2 others(4): Show HG00741.hp2 HG01109.hp2 HG02109.hp2 HG02717.hp1 HG02896.hp1 HG03209.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0018 a0001c0001 a0001c0005 a0001c0018	a0001c0001t0001 a0001c0001t0004 a0001c0005t0001 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0005t0001 a0001c0018t0001	a0001c0001t0001g0063 a0001c0001t0001g0068 a0001c0001t0001g0069 others(4): Show a0001c0001t0001g0063 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0094 a0001c0001t0004g0091 a0001c0005t0001g0020 a0001c0018t0001g0070	7	282	0.0248	12	c.252 others(29): Show c.252+9061_252+9072dupGTGTGTGTGTGT	ASXL1	ENSG00000171456.22	transcript	ENST00000375687.10	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
ASXL1_chr20_32353331_32444319	32411031	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0015 a0001c0005t0015	a0001c0005t0015g0184 a0001c0005t0015g0184	1	282	0.0036	12	c.253 others(31): Show c.253-17093_253-17082dupAAAAAAAAAAAA	ASXL1	ENSG00000171456.22	transcript	ENST00000375687.10	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
ASXL2_chr2_25728753_25883487	25786243	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01261.hp2 HG01515.hp2 others(4): Show HG01255.hp1 HG01261.hp2 HG01515.hp2 HG02523.hp2 HG02970.hp1 NA19081.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0047 a0001c0001t0001 a0001c0001t0007 a0001c0001t0047	a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0169 others(4): Show a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0179 a0001c0001t0001g0221 a0001c0001t0007g0201 a0001c0001t0047g0050	7	222	0.0315	12	c.403 others(31): Show c.403+13130_403+13141dupAAAAAAAAAAAA	ASXL2	ENSG00000143970.18	transcript	ENST00000435504.9	protein_coding	5/12			chr2	TogoVar
ASXL2_chr2_25728753_25883487	25807986	T T	TACACACA others(5): Show TACACACACACAC	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01071.hp2 HG01109.hp1 others(9): Show HG00673.hp2 HG01071.hp2 HG01109.hp1 HG01257.hp2 HG01258.hp2 HG01433.hp1 HG02148.hp1 HG03486.hp1 HG03688.hp1 HG03834.hp2 NA19043.hp2 NA19079.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0003 a0004c0004 a0001c0001 a0002c0003 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 a0001c0001t0041 a0002c0003t0008 a0004c0004t0001	a0001c0001t0001g0115 a0001c0001t0001g0129 a0001c0001t0001g0130 others(9): Show a0001c0001t0001g0115 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0002g0026 a0001c0001t0005g0218 a0001c0001t0009g0022 a0001c0001t0009g0027 a0001c0001t0009g0043 a0001c0001t0041g0140 a0002c0003t0008g0078 a0002c0003t0008g0079 a0004c0004t0001g0149	12	222	0.0541	12	c.144 others(29): Show c.144-1661_144-1650dupGTGTGTGTGTGT	ASXL2	ENSG00000143970.18	transcript	ENST00000435504.9	protein_coding	3/12			chr2	TogoVar
ASXL2_chr2_25728753_25883487	25811055	T T	TACACACA others(5): Show TACACACACACAC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01255.hp2 HG02145.hp2 others(2): Show HG00735.hp1 HG01255.hp2 HG02145.hp2 HG02965.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0106 a0001c0001t0001g0120 others(2): Show a0001c0001t0001g0094 a0001c0001t0001g0106 a0001c0001t0001g0120 a0001c0001t0001g0131 a0001c0001t0001g0135	5	222	0.0225	12	c.144 others(29): Show c.144-4730_144-4719dupGTGTGTGTGTGT	ASXL2	ENSG00000143970.18	transcript	ENST00000435504.9	protein_coding	3/12			chr2	TogoVar
ASXL2_chr2_25728753_25883487	25855882	C C	CATTTATT others(5): Show CATTTATTTATTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00423.hp2 others(64): Show HG00140.hp1 HG00323.hp1 HG00423.hp2 HG00597.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01192.hp2 HG01243.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01496.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp2 HG02027.hp1 HG02055.hp2 HG02056.hp1 HG02129.hp1 HG02148.hp1 HG02451.hp1 HG02486.hp2 HG02523.hp1 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02723.hp1 HG02735.hp1 HG02809.hp2 HG02970.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03225.hp2 HG03491.hp1 HG03688.hp1 HG03688.hp2 HG03834.hp2 NA18522.hp1 NA18941.hp2 NA18955.hp1 NA18961.hp2 NA18972.hp1 NA18975.hp2 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA20905.hp2	a0001 a0002 a0007 others(1): Show a0001 a0002 a0007 a0009	a0001c0001 a0001c0011 a0001c0012 others(4): Show a0001c0001 a0001c0011 a0001c0012 a0002c0002 a0002c0003 a0007c0010 a0009c0013	a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 others(20): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0020 a0001c0001t0026 a0001c0001t0037 a0001c0001t0038 a0001c0001t0047 a0001c0001t0049 a0001c0001t0050 a0001c0011t0003 a0001c0012t0032 a0002c0002t0006 a0002c0002t0021 a0002c0003t0008 a0007c0010t0013 a0009c0013t0006	a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0011 others(64): Show a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0017 a0001c0001t0002g0021 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0029 a0001c0001t0002g0039 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0052 a0001c0001t0002g0068 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0003g0033 a0001c0001t0003g0035 a0001c0001t0003g0038 a0001c0001t0003g0051 a0001c0001t0009g0022 a0001c0001t0009g0027 a0001c0001t0009g0028 a0001c0001t0009g0043 a0001c0001t0011g0065 a0001c0001t0011g0066 a0001c0001t0013g0031 a0001c0001t0013g0032 a0001c0001t0014g0020 a0001c0001t0014g0048 a0001c0001t0014g0072 a0001c0001t0015g0062 a0001c0001t0015g0063 a0001c0001t0016g0001 a0001c0001t0016g0002 a0001c0001t0016g0069 a0001c0001t0017g0003 a0001c0001t0017g0004 a0001c0001t0017g0005 a0001c0001t0020g0030 a0001c0001t0020g0049 a0001c0001t0026g0036 a0001c0001t0026g0037 a0001c0001t0037g0019 a0001c0001t0038g0041 a0001c0001t0047g0050 a0001c0001t0049g0007 a0001c0001t0050g0006 a0001c0011t0003g0034 a0001c0012t0032g0016 a0002c0002t0006g0055 a0002c0002t0006g0056 a0002c0002t0006g0060 a0002c0002t0006g0061 a0002c0002t0021g0058 a0002c0002t0021g0059 a0002c0003t0008g0077 a0002c0003t0008g0078 a0007c0010t0013g0008 a0009c0013t0006g0057	67	222	0.3018	12	c.58- others(29): Show c.58-10331_58-10320dupAAATAAATAAAT	ASXL2	ENSG00000143970.18	transcript	ENST00000435504.9	protein_coding	1/12			chr2	TogoVar
ASXL3_chr18_33573219_33756195	33581472	A A	AGTGTGTG others(5): Show AGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03209.hp1 HG03486.hp2 others(1): Show HG02895.hp1 HG03209.hp1 HG03486.hp2 HG04184.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0008 a0001c0017 others(1): Show a0001c0001 a0001c0008 a0001c0017 a0003c0003	a0001c0001t0019 a0001c0008t0081 a0001c0017t0076 others(1): Show a0001c0001t0019 a0001c0008t0081 a0001c0017t0076 a0003c0003t0066	a0001c0001t0019g0154 a0001c0008t0081g0220 a0001c0017t0076g0175 others(1): Show a0001c0001t0019g0154 a0001c0008t0081g0220 a0001c0017t0076g0175 a0003c0003t0066g0216	4	220	0.0182	12	c.54+ others(27): Show c.54+2805_54+2816dupTGTGTGTGTGTG	ASXL3	ENSG00000141431.14	transcript	ENST00000269197.12	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
ASXL3_chr18_33573219_33756195	33652603	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02257.hp2 HG02572.hp1 others(1): Show HG00438.hp2 HG02257.hp2 HG02572.hp1 NA19030.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0013 a0003c0003 a0001c0001 a0002c0013 a0003c0003	a0001c0001t0007 a0002c0013t0046 a0003c0003t0069 others(1): Show a0001c0001t0007 a0002c0013t0046 a0003c0003t0069 a0003c0003t0079	a0001c0001t0007g0025 a0002c0013t0046g0079 a0003c0003t0069g0010 others(1): Show a0001c0001t0007g0025 a0002c0013t0046g0079 a0003c0003t0069g0010 a0003c0003t0079g0007	4	220	0.0182	12	c.355 others(29): Show c.355+6252_355+6263dupAAAAAAAAAAAA	ASXL3	ENSG00000141431.14	transcript	ENST00000269197.12	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
ASXL3_chr18_33573219_33756195	33749763	G G	GTTCACCA others(5): Show GTTCACCAAAATT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0045 a0004c0004t0045	a0004c0004t0045g0058 a0004c0004t0045g0058	1	220	0.0046	12	c.31 others(23): Show c.3168_*3169insTTCACCAAAATT	ASXL3	ENSG00000141431.14	transcript	ENST00000269197.12	protein_coding	12/12	3169		chr18	TogoVar
ASZ1_chr7_117358222_117432493	117370804	T T	TTGTGTGT others(5): Show TTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03579.hp1 NA19012.hp2 HG03579.hp1 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0197 a0001c0001t0003g0112 a0001c0001t0001g0197 a0001c0001t0003g0112	2	306	0.0065	12	c.105 others(31): Show c.1056-2099_1056-2088dupCACACACACACA	ASZ1	ENSG00000154438.8	transcript	ENST00000284629.7	protein_coding	10/12			chr7	TogoVar
ASZ1_chr7_117358222_117432493	117379168	T T	TACACACA others(5): Show TACACACACACAC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02896.hp1 HG02647.hp2 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0180 a0001c0001t0001g0181	2	306	0.0065	12	c.105 others(29): Show c.1055+758_1055+769dupGTGTGTGTGTGT	ASZ1	ENSG00000154438.8	transcript	ENST00000284629.7	protein_coding	10/12			chr7	TogoVar
ASZ1_chr7_117358222_117432493	117379168	T T	TATACACA others(5): Show TATACACACACAC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02486.hp2 HG02896.hp2 HG02258.hp2 HG02486.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0128 a0001c0001t0003g0176 a0001c0001t0003g0178 a0001c0001t0003g0128 a0001c0001t0003g0176 a0001c0001t0003g0178	3	306	0.0098	12	c.105 others(29): Show c.1055+769_1055+770insGTGTGTGTGTAT	ASZ1	ENSG00000154438.8	transcript	ENST00000284629.7	protein_coding	10/12			chr7	TogoVar
ASZ1_chr7_117358222_117432493	117379168	T T	TATATATA others(5): Show TATATATATACAC	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0109 a0001c0001t0003g0109	1	306	0.0033	12	c.105 others(29): Show c.1055+769_1055+770insGTGTATATATAT	ASZ1	ENSG00000154438.8	transcript	ENST00000284629.7	protein_coding	10/12			chr7	TogoVar
ASZ1_chr7_117358222_117432493	117379168	T T	TATATATA others(5): Show TATATATATATAC	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0165 a0002c0002t0002g0165	1	306	0.0033	12	c.105 others(29): Show c.1055+769_1055+770insGTATATATATAT	ASZ1	ENSG00000154438.8	transcript	ENST00000284629.7	protein_coding	10/12			chr7	TogoVar
ASZ1_chr7_117358222_117432493	117412039	A A	AGTGTGTA others(5): Show AGTGTGTATGTAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01993.hp1 HG02074.hp1 others(4): Show HG00099.hp1 HG01993.hp1 HG02074.hp1 HG02080.hp1 NA18961.hp2 NA19001.hp1 NA19010.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0082 a0002c0002t0002g0134 a0002c0002t0002g0138 others(4): Show a0002c0002t0002g0082 a0002c0002t0002g0134 a0002c0002t0002g0138 a0002c0002t0002g0156 a0002c0002t0002g0157 a0002c0002t0002g0167 a0002c0002t0002g0189	7	306	0.0229	12	c.440 others(29): Show c.440+8123_440+8124insATACATACACAC	ASZ1	ENSG00000154438.8	transcript	ENST00000284629.7	protein_coding	4/12			chr7	TogoVar
ASZ1_chr7_117358222_117432493	117412039	A A	AGTGTGTA others(5): Show AGTGTGTATGTGT	intron_variant intron_variant	MODIFIER	HG03942.hp1 NA18964.hp2 HG03942.hp1 NA18964.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0076 a0002c0002t0002g0101 a0002c0002t0002g0076 a0002c0002t0002g0101	2	306	0.0065	12	c.440 others(29): Show c.440+8123_440+8124insACACATACACAC	ASZ1	ENSG00000154438.8	transcript	ENST00000284629.7	protein_coding	4/12			chr7	TogoVar
ATAD1_chr10_87746512_87823226	87798623	G G	GGTGTGTG others(5): Show GGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00738.hp1 HG01069.hp2 others(7): Show HG00408.hp1 HG00738.hp1 HG01069.hp2 HG01934.hp1 HG01981.hp1 HG02148.hp2 NA18946.hp2 NA18977.hp1 NA19011.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0003 a0001c0001t0008	a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0054 others(7): Show a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0065 a0001c0001t0003g0127 a0001c0001t0008g0060	10	360	0.0278	12	c.163 others(29): Show c.163-5869_163-5868insACACACACACAC	ATAD1	ENSG00000138138.14	transcript	ENST00000680024.1	protein_coding	2/9			chr10	TogoVar
ATAD1_chr10_87746512_87823226	87811334	A A	AAAATAAA others(5): Show AAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01069.hp2 HG01934.hp1 others(26): Show HG00738.hp1 HG01069.hp2 HG01934.hp1 HG01981.hp1 HG02148.hp2 HG02273.hp2 HG02280.hp1 HG02451.hp1 HG02572.hp2 HG02630.hp2 HG02738.hp1 HG02970.hp1 HG03130.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03669.hp1 HG03834.hp1 NA18946.hp2 NA18965.hp1 NA18977.hp1 NA18978.hp2 NA18984.hp1 NA18991.hp2 NA19011.hp2 NA19081.hp1 NA19082.hp1 NA20905.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0003 a0001c0001t0008	a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0048 others(26): Show a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0061 a0001c0001t0003g0062 a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0105 a0001c0001t0003g0106 a0001c0001t0003g0107 a0001c0001t0003g0108 a0001c0001t0003g0109 a0001c0001t0003g0110 a0001c0001t0003g0111 a0001c0001t0003g0112 a0001c0001t0003g0113 a0001c0001t0003g0127 a0001c0001t0008g0060	29	360	0.0806	12	c.162 others(29): Show c.162+3092_162+3103dupATTTATTTATTT	ATAD1	ENSG00000138138.14	transcript	ENST00000680024.1	protein_coding	2/9			chr10	TogoVar
ATAD2B_chr2_23743664_23932123	23745368	A A	AGAAGGAA others(5): Show AGAAGGAAGGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG01081.hp1 HG01167.hp2 others(27): Show HG00738.hp1 HG01081.hp1 HG01167.hp2 HG01256.hp1 HG01257.hp1 HG01516.hp1 HG01517.hp1 HG02027.hp1 HG02135.hp2 HG02300.hp1 HG02300.hp2 HG02622.hp1 HG02895.hp1 HG02895.hp2 HG02970.hp1 HG03579.hp2 HG03669.hp2 HG03942.hp1 HG06807.hp2 NA18943.hp1 NA18955.hp2 NA18980.hp1 NA18984.hp2 NA18986.hp1 NA18990.hp1 NA18995.hp1 NA19004.hp2 NA19011.hp1 NA19011.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0015 a0001c0001 a0001c0015	a0001c0001t0001 a0001c0001t0002 a0001c0015t0002 a0001c0001t0001 a0001c0001t0002 a0001c0015t0002	a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0065 others(27): Show a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0065 a0001c0001t0001g0151 a0001c0001t0001g0155 a0001c0001t0001g0185 a0001c0001t0001g0191 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0210 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0002g0017 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0029 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0036 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0049 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0067 a0001c0001t0002g0075 a0001c0001t0002g0078 a0001c0001t0002g0096 a0001c0001t0002g0142 a0001c0015t0002g0079	30	246	0.1220	12	c.66 others(23): Show c.6677_*6678insCTTCCTTCCTTC	ATAD2B	ENSG00000119778.15	transcript	ENST00000238789.10	protein_coding		3295		chr2	TogoVar
ATAD2B_chr2_23743664_23932123	23777348	A A	ATATATCT others(5): Show ATATATCTATATC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00544.hp1 HG00642.hp1 others(41): Show HG00140.hp1 HG00544.hp1 HG00642.hp1 HG00735.hp1 HG01106.hp1 HG01109.hp2 HG01255.hp1 HG01256.hp1 HG01261.hp1 HG01433.hp1 HG01934.hp1 HG02074.hp1 HG02080.hp1 HG02109.hp1 HG02135.hp2 HG02257.hp2 HG02486.hp1 HG02723.hp1 HG02723.hp2 HG02895.hp2 HG03017.hp2 HG03139.hp2 HG03453.hp1 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03579.hp2 HG03834.hp2 HG06807.hp1 NA18906.hp1 NA18943.hp2 NA18974.hp2 NA18979.hp2 NA18980.hp1 NA18984.hp1 NA18986.hp1 NA18990.hp2 NA18995.hp1 NA19004.hp2 NA19011.hp1 NA19057.hp2 NA19079.hp1 NA19086.hp1 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0008 others(2): Show a0001c0001 a0001c0002 a0001c0008 a0001c0015 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0010 a0001c0002t0003 a0001c0002t0007 a0001c0002t0012 a0001c0008t0002 a0001c0015t0002 a0003c0005t0003	a0001c0001t0001g0016 a0001c0001t0001g0095 a0001c0001t0001g0105 others(41): Show a0001c0001t0001g0016 a0001c0001t0001g0095 a0001c0001t0001g0105 a0001c0001t0001g0123 a0001c0001t0001g0149 a0001c0001t0001g0167 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0018 a0001c0001t0002g0020 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0031 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0046 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0052 a0001c0001t0002g0054 a0001c0001t0002g0056 a0001c0001t0002g0061 a0001c0001t0002g0064 a0001c0001t0002g0071 a0001c0001t0002g0075 a0001c0001t0002g0077 a0001c0001t0002g0089 a0001c0001t0002g0096 a0001c0001t0003g0125 a0001c0001t0003g0224 a0001c0001t0004g0113 a0001c0001t0005g0093 a0001c0001t0008g0001 a0001c0001t0010g0053 a0001c0002t0003g0225 a0001c0002t0007g0243 a0001c0002t0007g0244 a0001c0002t0012g0233 a0001c0008t0002g0003 a0001c0015t0002g0079 a0003c0005t0003g0222 a0003c0005t0003g0223	44	246	0.1789	12	c.313 others(31): Show c.3133+5509_3133+5520dupGATATAGATATA	ATAD2B	ENSG00000119778.15	transcript	ENST00000238789.10	protein_coding	22/27			chr2	TogoVar
ATAD2B_chr2_23743664_23932123	23777348	A A	ATATATTT others(5): Show ATATATTTATATC	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0047 a0001c0001t0002g0047	1	246	0.0041	12	c.313 others(31): Show c.3133+5520_3133+5521insGATATAAATATA	ATAD2B	ENSG00000119778.15	transcript	ENST00000238789.10	protein_coding	22/27			chr2	TogoVar
ATAD2B_chr2_23743664_23932123	23805795	T T	TAAAAAAA others(5): Show TAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00544.hp2 HG00642.hp2 others(56): Show HG00099.hp2 HG00544.hp2 HG00642.hp2 HG00738.hp2 HG01070.hp1 HG01081.hp1 HG01123.hp2 HG01167.hp1 HG01496.hp1 HG01496.hp2 HG02027.hp2 HG02040.hp2 HG02109.hp2 HG02155.hp2 HG02258.hp2 HG02300.hp1 HG02615.hp1 HG02622.hp1 HG02717.hp1 HG02723.hp1 HG02886.hp2 HG02970.hp2 HG03041.hp1 HG03098.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp2 HG03654.hp2 HG03688.hp1 HG03710.hp2 HG03927.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18943.hp1 NA18952.hp1 NA18955.hp2 NA18956.hp1 NA18984.hp2 NA18990.hp1 NA18995.hp2 NA19000.hp1 NA19001.hp2 NA19003.hp1 NA19006.hp1 NA19011.hp2 NA19030.hp2 NA19043.hp2 NA19057.hp1 NA19074.hp2 NA19079.hp2 NA19083.hp2 NA20129.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0004 a0001c0006 others(2): Show a0001c0001 a0001c0004 a0001c0006 a0001c0016 a0006c0011	a0001c0001t0001 a0001c0001t0011 a0001c0004t0001 others(3): Show a0001c0001t0001 a0001c0001t0011 a0001c0004t0001 a0001c0006t0001 a0001c0016t0001 a0006c0011t0001	a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 others(56): Show a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0011g0212 a0001c0004t0001g0166 a0001c0004t0001g0171 a0001c0004t0001g0192 a0001c0004t0001g0220 a0001c0006t0001g0168 a0001c0006t0001g0180 a0001c0006t0001g0181 a0001c0016t0001g0178 a0006c0011t0001g0189	59	246	0.2398	12	c.245 others(31): Show c.2454+4509_2454+4520dupTTTTTTTTTTTT	ATAD2B	ENSG00000119778.15	transcript	ENST00000238789.10	protein_coding	18/27			chr2	TogoVar
ATAD2B_chr2_23743664_23932123	23808076	A A	AGTAATTA others(5): Show AGTAATTATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0107 a0001c0001t0003g0107	1	246	0.0041	12	c.245 others(31): Show c.2454+2228_2454+2239dupATATATAATTAC	ATAD2B	ENSG00000119778.15	transcript	ENST00000238789.10	protein_coding	18/27			chr2	TogoVar
ATAD2B_chr2_23743664_23932123	23878010	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp2 NA18955.hp1 HG02622.hp2 NA18955.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0001 a0001c0001t0002 a0002c0003t0001	a0001c0001t0002g0074 a0002c0003t0001g0141 a0001c0001t0002g0074 a0002c0003t0001g0141	2	246	0.0081	12	c.902 others(29): Show c.902-2107_902-2106insTTTTTTTTTTTT	ATAD2B	ENSG00000119778.15	transcript	ENST00000238789.10	protein_coding	7/27			chr2	TogoVar
ATAD2B_chr2_23743664_23932123	23903237	A A	AAAATAAA others(5): Show AAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00323.hp2 others(41): Show HG00140.hp1 HG00140.hp2 HG00323.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG01069.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01123.hp1 HG01243.hp1 HG01255.hp2 HG01261.hp2 HG01361.hp1 HG01433.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG02129.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp2 HG02717.hp2 HG02886.hp1 HG02922.hp2 HG03017.hp2 HG03041.hp2 HG03098.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03486.hp1 HG03579.hp1 HG03710.hp1 HG03942.hp2 HG04228.hp1 NA18963.hp2 NA18974.hp1 NA19004.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0002t0001 a0001c0002t0003 a0001c0002t0012 a0002c0003t0001 a0002c0003t0003 a0002c0003t0006	a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 others(41): Show a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0002g0021 a0001c0001t0003g0107 a0001c0001t0003g0224 a0001c0001t0004g0005 a0001c0001t0004g0006 a0001c0001t0004g0108 a0001c0001t0004g0109 a0001c0001t0004g0110 a0001c0001t0004g0114 a0001c0001t0004g0115 a0001c0001t0004g0116 a0001c0001t0004g0117 a0001c0001t0004g0118 a0001c0001t0004g0119 a0001c0001t0004g0120 a0001c0001t0008g0001 a0001c0002t0001g0238 a0001c0002t0003g0225 a0001c0002t0003g0226 a0001c0002t0003g0227 a0001c0002t0003g0245 a0001c0002t0012g0233 a0002c0003t0001g0131 a0002c0003t0001g0133 a0002c0003t0001g0134 a0002c0003t0001g0135 a0002c0003t0001g0139 a0002c0003t0001g0140 a0002c0003t0001g0141 a0002c0003t0003g0132 a0002c0003t0003g0138 a0002c0003t0006g0136 a0002c0003t0006g0137	44	246	0.1789	12	c.217 others(29): Show c.217-7279_217-7268dupATTTATTTATTT	ATAD2B	ENSG00000119778.15	transcript	ENST00000238789.10	protein_coding	1/27			chr2	TogoVar
ATAD2_chr8_123314850_123401447	123329981	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0013 a0002c0008t0013	a0002c0008t0013g0160 a0002c0008t0013g0160	1	278	0.0036	12	c.347 others(31): Show c.3479-1414_3479-1403dupAAAAAAAAAAAA	ATAD2	ENSG00000156802.13	transcript	ENST00000287394.10	protein_coding	24/27			chr8	TogoVar
ATAD2_chr8_123314850_123401447	123377091	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00639.hp1 HG00738.hp1 others(12): Show HG00621.hp1 HG00639.hp1 HG00738.hp1 HG01256.hp2 HG02735.hp2 HG03471.hp1 HG03491.hp2 HG03492.hp2 HG03704.hp1 HG03834.hp1 NA18942.hp1 NA18959.hp2 NA18981.hp1 NA19030.hp2 NA19060.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0008 a0001c0001 a0002c0008	a0001c0001t0001 a0001c0001t0002 a0002c0008t0013 a0001c0001t0001 a0001c0001t0002 a0002c0008t0013	a0001c0001t0001g0203 a0001c0001t0001g0272 a0001c0001t0002g0021 others(12): Show a0001c0001t0001g0203 a0001c0001t0001g0272 a0001c0001t0002g0021 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0067 a0001c0001t0002g0070 a0001c0001t0002g0079 a0001c0001t0002g0089 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0140 a0001c0001t0002g0145 a0001c0001t0002g0207 a0002c0008t0013g0160	15	278	0.0540	12	c.320 others(29): Show c.320+3426_320+3437dupTTTTTTTTTTTT	ATAD2	ENSG00000156802.13	transcript	ENST00000287394.10	protein_coding	2/27			chr8	TogoVar
ATAD2_chr8_123314850_123401447	123389960	T T	TTATATAT others(5): Show TTATATATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00735.hp1 HG01106.hp2 others(5): Show HG00140.hp2 HG00735.hp1 HG01106.hp2 HG01256.hp2 HG03831.hp1 NA18959.hp2 NA18988.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0230 a0001c0001t0001g0269 a0001c0001t0001g0270 others(5): Show a0001c0001t0001g0230 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0002g0091 a0001c0001t0002g0149 a0001c0001t0002g0207	8	278	0.0288	12	c.171 others(29): Show c.171+6215_171+6226dupTATATATATATA	ATAD2	ENSG00000156802.13	transcript	ENST00000287394.10	protein_coding	1/27			chr8	TogoVar
ATAD3C_chr1_1444689_1475163	1448118	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG02895.hp2 HG03139.hp1 others(1): Show HG02615.hp2 HG02895.hp2 HG03139.hp1 HG03579.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0023 a0004c0012 a0001c0001 a0001c0023 a0004c0012	a0001c0001t0021 a0001c0001t0036 a0001c0023t0073 others(1): Show a0001c0001t0021 a0001c0001t0036 a0001c0023t0073 a0004c0012t0027	a0001c0001t0021g0320 a0001c0001t0036g0334 a0001c0023t0073g0208 others(1): Show a0001c0001t0021g0320 a0001c0001t0036g0334 a0001c0023t0073g0208 a0004c0012t0027g0308	4	410	0.0098	12	c.-25 others(23): Show c.-2566_-2565insAAAAAAAAAAAA	ATAD3C	ENSG00000215915.10	transcript	ENST00000378785.7	protein_coding		1570		chr1	TogoVar
ATAD3C_chr1_1444689_1475163	1457595	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0017 a0017	a0017c0050 a0017c0050	a0017c0050t0074 a0017c0050t0074	a0017c0050t0074g0133 a0017c0050t0074g0133	1	410	0.0024	12	c.741 others(27): Show c.741+423_741+434dupAAAAAAAAAAAA	ATAD3C	ENSG00000215915.10	transcript	ENST00000378785.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
ATAD3C_chr1_1444689_1475163	1469099	T T	TAAAAAAA others(5): Show TAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0186 a0001c0004t0186	a0001c0004t0186g0146 a0001c0004t0186g0146	1	410	0.0024	12	c.59 others(21): Show c.595_*606dupAAAAAAAAAAAA	ATAD3C	ENSG00000215915.10	transcript	ENST00000378785.7	protein_coding	12/12	607	INFO_REALIGN_3_PRIME	chr1	TogoVar
ATAD5_chr17_30826966_30900869	30827140	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01243.hp1 HG01346.hp2 others(5): Show HG01109.hp1 HG01243.hp1 HG01346.hp2 HG02055.hp1 HG02280.hp2 HG02615.hp1 NA18906.hp2 NA19030.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0015 a0003c0003t0004 a0003c0003t0015	a0003c0003t0004g0079 a0003c0003t0004g0080 a0003c0003t0004g0095 others(5): Show a0003c0003t0004g0079 a0003c0003t0004g0080 a0003c0003t0004g0095 a0003c0003t0004g0096 a0003c0003t0004g0113 a0003c0003t0004g0114 a0003c0003t0004g0116 a0003c0003t0015g0110	8	286	0.0280	12	c.-52 others(23): Show c.-5208_-5207insAAAAAAAAAAAA	ATAD5	ENSG00000176208.9	transcript	ENST00000321990.5	protein_coding		4825		chr17	TogoVar
ATAD5_chr17_30826966_30900869	30850869	A A	ATATATAT others(5): Show ATATATATATTTT	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0185 a0001c0001t0003g0185	1	286	0.0035	12	c.245 others(31): Show c.2451-4273_2451-4272insATATATATTTTT	ATAD5	ENSG00000176208.9	transcript	ENST00000321990.5	protein_coding	6/22		INFO_REALIGN_3_PRIME	chr17	TogoVar
ATAD5_chr17_30826966_30900869	30874607	C C	CTATTTAT others(5): Show CTATTTATTTATT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00733.hp2 HG01069.hp1 others(24): Show HG00639.hp1 HG00733.hp2 HG01069.hp1 HG01071.hp2 HG01175.hp1 HG01243.hp1 HG01993.hp1 HG02129.hp2 HG02273.hp2 HG02280.hp2 HG02647.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp2 HG03130.hp1 HG03225.hp2 HG03516.hp1 NA18948.hp1 NA18977.hp1 NA18979.hp1 NA18986.hp2 NA19002.hp1 NA19007.hp2 NA19030.hp2 NA19043.hp1 NA20129.hp1 NA20300.hp2	a0002 a0003 a0006 a0002 a0003 a0006	a0002c0002 a0003c0003 a0006c0006 a0002c0002 a0003c0003 a0006c0006	a0002c0002t0002 a0002c0002t0009 a0003c0003t0004 others(2): Show a0002c0002t0002 a0002c0002t0009 a0003c0003t0004 a0003c0003t0015 a0006c0006t0001	a0002c0002t0002g0001 a0002c0002t0002g0017 a0002c0002t0002g0028 others(23): Show a0002c0002t0002g0001 a0002c0002t0002g0017 a0002c0002t0002g0028 a0002c0002t0002g0033 a0002c0002t0002g0050 a0002c0002t0002g0051 a0002c0002t0002g0054 a0002c0002t0002g0055 a0002c0002t0002g0056 a0002c0002t0002g0057 a0002c0002t0009g0031 a0003c0003t0004g0088 a0003c0003t0004g0091 a0003c0003t0004g0093 a0003c0003t0004g0098 a0003c0003t0004g0102 a0003c0003t0004g0103 a0003c0003t0004g0104 a0003c0003t0004g0108 a0003c0003t0004g0109 a0003c0003t0004g0112 a0003c0003t0004g0114 a0003c0003t0004g0116 a0003c0003t0015g0110 a0006c0006t0001g0277 a0006c0006t0001g0279	27	286	0.0944	12	c.360 others(31): Show c.3608-1737_3608-1726dupATTTATTTATTT	ATAD5	ENSG00000176208.9	transcript	ENST00000321990.5	protein_coding	14/22		INFO_REALIGN_3_PRIME	chr17	TogoVar
ATCAY_chr19_3875685_3933082	3884286	C C	CTAAATAA others(5): Show CTAAATAAATAAA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02717.hp1 HG02809.hp1 others(4): Show HG02572.hp2 HG02717.hp1 HG02809.hp1 HG02896.hp2 HG03098.hp2 HG03540.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0043 a0001c0001t0001 a0001c0001t0002 a0001c0001t0043	a0001c0001t0001g0020 a0001c0001t0001g0201 a0001c0001t0001g0202 others(4): Show a0001c0001t0001g0020 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0002g0014 a0001c0001t0002g0120 a0001c0001t0002g0163 a0001c0001t0043g0019	7	384	0.0182	12	c.-41 others(29): Show c.-41-1428_-41-1417dupTAAATAAATAAA	ATCAY	ENSG00000167654.18	transcript	ENST00000450849.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
ATCAY_chr19_3875685_3933082	3897263	C C	CTATATAT others(5): Show CTATATATATATA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0362 a0001c0001t0039g0362	1	384	0.0026	12	c.78- others(27): Show c.78-5215_78-5204dupTATATATATATA	ATCAY	ENSG00000167654.18	transcript	ENST00000450849.7	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
ATCAY_chr19_3875685_3933082	3904852	C C	CTTTATTT others(5): Show CTTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02055.hp2 HG02280.hp1 others(6): Show HG01109.hp2 HG02055.hp2 HG02280.hp1 HG02280.hp2 HG02630.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0012	a0001c0001t0001g0026 a0001c0001t0001g0247 a0001c0001t0002g0091 others(6): Show a0001c0001t0001g0026 a0001c0001t0001g0247 a0001c0001t0002g0091 a0001c0001t0002g0239 a0001c0001t0002g0243 a0001c0001t0002g0246 a0001c0001t0003g0245 a0001c0001t0007g0154 a0001c0001t0012g0238	9	384	0.0234	12	c.137 others(27): Show c.137-570_137-559dupATTTATTTATTT	ATCAY	ENSG00000167654.18	transcript	ENST00000450849.7	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
ATCAY_chr19_3875685_3933082	3923832	G G	GTGGATGG others(5): Show GTGGATGGATGGA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0234 a0001c0001t0022g0234	1	384	0.0026	12	c.110 others(29): Show c.1107-748_1107-747insATGGATGGATGG	ATCAY	ENSG00000167654.18	transcript	ENST00000450849.7	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
ATCAY_chr19_3875685_3933082	3923836	G G	GTGGATGG others(5): Show GTGGATGGATGGA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02886.hp2 NA20129.hp1 HG02615.hp1 HG02886.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0023 a0001c0001t0015 a0001c0001t0023	a0001c0001t0015g0160 a0001c0001t0015g0256 a0001c0001t0023g0339 a0001c0001t0015g0160 a0001c0001t0015g0256 a0001c0001t0023g0339	3	384	0.0078	12	c.110 others(29): Show c.1107-733_1107-722dupGGATGGATGGAT	ATCAY	ENSG00000167654.18	transcript	ENST00000450849.7	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
ATCAY_chr19_3875685_3933082	3924233	G G	GTGGATGG others(5): Show GTGGATGGACGGA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02486.hp2 HG02615.hp1 others(7): Show HG02145.hp1 HG02486.hp2 HG02615.hp1 HG02886.hp2 HG02965.hp2 HG02970.hp2 NA18906.hp2 NA19043.hp1 NA20129.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0015 a0001c0001t0018 others(2): Show a0001c0001t0008 a0001c0001t0015 a0001c0001t0018 a0001c0001t0022 a0001c0001t0023	a0001c0001t0008g0001 a0001c0001t0008g0090 a0001c0001t0008g0098 others(7): Show a0001c0001t0008g0001 a0001c0001t0008g0090 a0001c0001t0008g0098 a0001c0001t0008g0261 a0001c0001t0015g0160 a0001c0001t0015g0256 a0001c0001t0018g0099 a0001c0001t0018g0122 a0001c0001t0022g0234 a0001c0001t0023g0339	10	384	0.0260	12	c.110 others(29): Show c.1107-342_1107-341insCGGATGGATGGA	ATCAY	ENSG00000167654.18	transcript	ENST00000450849.7	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
ATCAY_chr19_3875685_3933082	3924233	G G	GTGGATGG others(5): Show GTGGATGGATGGA	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG04228.hp1 HG03669.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0166 a0001c0001t0011g0326 a0001c0001t0001g0166 a0001c0001t0011g0326	2	384	0.0052	12	c.110 others(29): Show c.1107-322_1107-311dupATGGATGGATGG	ATCAY	ENSG00000167654.18	transcript	ENST00000450849.7	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
ATCAY_chr19_3875685_3933082	3930774	G G	GTGTTAGC others(5): Show GTGTTAGCCAGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03516.hp1 HG03225.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0009 a0001c0001t0002 a0001c0002t0009	a0001c0001t0002g0184 a0001c0002t0009g0334 a0001c0001t0002g0184 a0001c0002t0009g0334	2	384	0.0052	12	c.61 others(23): Show c.6182_*6183insTGTTAGCCAGGA	ATCAY	ENSG00000167654.18	transcript	ENST00000450849.7	protein_coding		2693		chr19	TogoVar
ATE1_chr10_121735424_121933031	121770233	A A	AACACACA others(5): Show AACACACACACAC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02129.hp1 HG02965.hp1 others(9): Show HG00735.hp2 HG02129.hp1 HG02965.hp1 HG02976.hp1 HG03688.hp1 HG03688.hp2 HG03831.hp2 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18991.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0002t0001 a0001c0002t0003 a0001c0003t0003	a0001c0001t0001g0040 a0001c0001t0001g0187 a0001c0001t0001g0222 others(9): Show a0001c0001t0001g0040 a0001c0001t0001g0187 a0001c0001t0001g0222 a0001c0001t0002g0265 a0001c0001t0003g0082 a0001c0001t0005g0016 a0001c0001t0006g0204 a0001c0002t0001g0056 a0001c0002t0003g0037 a0001c0002t0003g0100 a0001c0002t0003g0114 a0001c0003t0003g0294	12	320	0.0375	12	c.137 others(33): Show c.1378+19924_1378+19935dupGTGTGTGTGTGT	ATE1	ENSG00000107669.19	transcript	ENST00000224652.12	protein_coding	11/11			chr10	TogoVar
ATE1_chr10_121735424_121933031	121846700	C C	CTAAATAA others(5): Show CTAAATAAATAAA	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0285 a0001c0003t0003g0285	1	320	0.0031	12	c.976 others(29): Show c.976-5449_976-5438dupTTTATTTATTTA	ATE1	ENSG00000107669.19	transcript	ENST00000224652.12	protein_coding	8/11			chr10	TogoVar
ATE1_chr10_121735424_121933031	121848284	G G	GTTCATTC others(5): Show GTTCATTCATTCA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02622.hp2 HG02630.hp1 others(4): Show HG02572.hp2 HG02622.hp2 HG02630.hp1 HG02723.hp2 HG03540.hp1 HG03834.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0007 others(1): Show a0001c0001 a0001c0005 a0001c0007 a0001c0009	a0001c0001t0007 a0001c0005t0009 a0001c0007t0005 others(1): Show a0001c0001t0007 a0001c0005t0009 a0001c0007t0005 a0001c0009t0023	a0001c0001t0007g0170 a0001c0005t0009g0314 a0001c0005t0009g0318 others(4): Show a0001c0001t0007g0170 a0001c0005t0009g0314 a0001c0005t0009g0318 a0001c0005t0009g0319 a0001c0007t0005g0229 a0001c0007t0005g0230 a0001c0009t0023g0315	7	320	0.0219	12	c.976 others(29): Show c.976-7033_976-7022dupTGAATGAATGAA	ATE1	ENSG00000107669.19	transcript	ENST00000224652.12	protein_coding	8/11			chr10	TogoVar

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