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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
ATP6V0A4_chr7_138701294_138803196	138707363	T T	TTATATAT others(23): Show TTATATATATATTTATATATATATTATATTA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0150 a0002c0003t0001g0150	1	376	0.0027	30	c.243 others(47): Show c.2430-647_2430-646insTAATATAATATATATATAAATATATATA TA		ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	21/21						chr7	TogoVar
ATP6V0A4_chr7_138701294_138803196	138718577	C C	CATGGGGA others(23): Show CATGGGGAGGAATGGGGAGGAATGGGGAGGA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0354 a0003c0004t0002g0354	1	376	0.0027	30	c.214 others(49): Show c.2140-2697_2140-2696insTCCTCCCCATTCCTCCCCATTCCTCC CCAT		ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	19/21						chr7	TogoVar
ATP6V0A4_chr7_138701294_138803196	138803166	T T	TCTTCTGT others(23): Show TCTTCTGTTGTTGTTGACTATGCGTCGAGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0014 a0002c0002t0001g0014	1	376	0.0027	30	c.-52 others(41): Show c.-5254_-5253insTACTCGACGCATAGTCAACAACAACAGAAG		ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding					4971		chr7	TogoVar
ATP6V0D2_chr8_86093910_86159225	86126236	C C	CTATATAT others(23): Show CTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00621.hp1 HG00738.hp1 others(6): Show HG00099.hp1 HG00621.hp1 HG00738.hp1 HG00741.hp1 HG01243.hp1 HG02080.hp1 NA18988.hp1 NA19060.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0021 a0001c0001t0001g0022 others(6): Show a0001c0001t0001g0013 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0054 a0001c0001t0001g0058 a0001c0001t0001g0101 a0001c0001t0001g0313	9	360	0.0250	30	c.302 others(49): Show c.302+12383_302+12384insATATATATATATATATATATATATAT ATAT		ATP6V0D2	ENSG00000147614.4	transcript	ENST00000285393.4	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr8	TogoVar
ATP6V0D2_chr8_86093910_86159225	86126236	C C	CTATATAT others(23): Show CTATATATATATATATGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	360	0.0028	30	c.302 others(49): Show c.302+12371_302+12372insGTATATATATATATATATATATATAT ATAT		ATP6V0D2	ENSG00000147614.4	transcript	ENST00000285393.4	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr8	TogoVar
ATP6V0D2_chr8_86093910_86159225	86158900	A A	AGGTTAGA others(23): Show AGGTTAGACAGCAATAAATGGAAAAGAATTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0232 a0001c0001t0002g0232	1	360	0.0028	30	c.59 others(41): Show c.5923_*5924insGGTTAGACAGCAATAAATGGAAAAGAATTT		ATP6V0D2	ENSG00000147614.4	transcript	ENST00000285393.4	protein_coding					4676		chr8	TogoVar
ATP6V1E2_chr2_46506847_46547577	46546451	C C	CATATATA others(23): Show CATATATATATATATATATATGTATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG02809.hp1 HG00639.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0076 a0001c0001t0004g0123 a0001c0001t0001g0076 a0001c0001t0004g0123	2	410	0.0049	30	c.-46 others(41): Show c.-4609_-4608insATATATATACATATATATATATATATATAT		ATP6V1E2	ENSG00000250565.7	transcript	ENST00000522587.6	protein_coding					3875		chr2	TogoVar
ATP8A1_chr4_42403373_42662105	42635782	C C	CACACATA others(23): Show CACACATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0308 a0001c0001t0012g0308	1	310	0.0032	30	c.50- others(45): Show c.50-8674_50-8673insATATATATATATATATATATATATATGTGT		ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	1/36						chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42635782	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0202 a0001c0001t0005g0202	1	310	0.0032	30	c.50- others(45): Show c.50-8674_50-8673insATATATATATATATATATATATATATATAT		ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	1/36						chr4	TogoVar
ATP8A2_chr13_25366974_26030851	25465748	C C	CCTCCCTC others(23): Show CCTCCCTCCCTCTCTCTCTCTCTCTCTCTTT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0024 a0001c0018t0024	a0001c0018t0024g0066 a0001c0018t0024g0066	1	122	0.0082	30	c.77- others(45): Show c.77-3226_77-3225insCCTCCCTCTCTCTCTCTCTCTCTCTTTCTC		ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	1/36					INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25892478	G G	GTCTCTCT others(23): Show GTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03041.hp1 HG03098.hp2 others(1): Show HG02280.hp1 HG03041.hp1 HG03098.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0010 a0001c0001 a0001c0009 a0001c0010	a0001c0001t0046 a0001c0009t0037 a0001c0010t0012 others(1): Show a0001c0001t0046 a0001c0009t0037 a0001c0010t0012 a0001c0010t0056	a0001c0001t0046g0045 a0001c0009t0037g0008 a0001c0010t0012g0091 others(1): Show a0001c0001t0046g0045 a0001c0009t0037g0008 a0001c0010t0012g0091 a0001c0010t0056g0006	4	122	0.0328	30	c.318 others(51): Show c.3183+30096_3183+30097insTCTCTCTCTCTCTCTCTCTCTCTC TCTCTC		ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	33/36					INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8B1_chr18_57641426_57808315	57648882	G G	GTGTGTGT others(23): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG03139.hp1 NA18984.hp1 NA19090.hp1 others(1): Show HG03139.hp1 NA18984.hp1 NA19090.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 others(1): Show a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0039	a0001c0001t0004g0103 a0001c0001t0007g0300 a0001c0001t0008g0142 others(1): Show a0001c0001t0004g0103 a0001c0001t0007g0300 a0001c0001t0008g0142 a0001c0001t0039g0149	4	314	0.0127	30	c.353 others(47): Show c.3532-171_3532-170insTACACACACACACACACACACACACACA CA		ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	27/27						chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57672978	C C	CACATATA others(23): Show CACATATAAATATATGTATATATATAAATAT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0109 a0001c0001t0006g0109	1	314	0.0032	30	c.182 others(49): Show c.1820-1399_1820-1398insATATTTATATATATACATATATTTAT ATGT		ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	16/27						chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57672978	C C	CATATATA others(23): Show CATATATAAATATATGTATATATATAAATAT	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0010 a0010	a0010c0010 a0010c0010	a0010c0010t0006 a0010c0010t0006	a0010c0010t0006g0028 a0010c0010t0006g0028	1	314	0.0032	30	c.182 others(49): Show c.1820-1399_1820-1398insATATTTATATATATACATATATTTAT ATAT		ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	16/27						chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57680277	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0253 a0001c0001t0009g0253	1	314	0.0032	30	c.163 others(49): Show c.1630+3758_1630+3759insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT		ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	15/27						chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57756192	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0148 a0001c0001t0040g0148	1	314	0.0032	30	c.-25 others(49): Show c.-25-24361_-25-24360insATATATATATATATATATATATATAT ATAT		ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	1/27						chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57756305	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG03540.hp1 NA20300.hp1 HG03540.hp1 NA20300.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0009 a0001c0001 a0006c0009	a0001c0001t0048 a0006c0009t0033 a0001c0001t0048 a0006c0009t0033	a0001c0001t0048g0312 a0006c0009t0033g0080 a0001c0001t0048g0312 a0006c0009t0033g0080	2	314	0.0064	30	c.-25 others(49): Show c.-25-24474_-25-24473insCATATATATATATATATATATATATA TATA		ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	1/27						chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57800148	T T	TTAAGTGC others(23): Show TTAAGTGCTTAAGCAATTTAAAAGGCATCTC	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0127 a0001c0001t0005g0127	1	314	0.0032	30	c.-26 others(47): Show c.-26+2820_-26+2849dupGAGATGCCTTTTAAATTGCTTAAGCACT TA		ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	1/27						chr18	TogoVar
ATP8B4_chr15_49853238_50124233	50072980	C C	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTCTCTCTCTATATATA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0012 a0012	a0012c0013 a0012c0013	a0012c0013t0010 a0012c0013t0010	a0012c0013t0010g0223 a0012c0013t0010g0223	1	254	0.0039	30	c.87+ others(45): Show c.87+1146_87+1147insTATATATAGAGAGAGAGAGAGAGAGAGAGA		ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	3/27						chr15	TogoVar
ATP9A_chr20_51591514_51773390	51718814	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0132 a0001c0001t0012g0132	1	312	0.0032	30	c.328 others(47): Show c.328-5770_328-5741dupTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT		ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	3/27						chr20	TogoVar
ATP9B_chr18_79064394_79383283	79071399	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01952.hp1 NA19030.hp2 HG01071.hp2 HG01952.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0024 a0001c0001 a0001c0004 a0001c0024	a0001c0001t0001 a0001c0004t0003 a0001c0024t0004 a0001c0001t0001 a0001c0004t0003 a0001c0024t0004	a0001c0001t0001g0059 a0001c0004t0003g0060 a0001c0024t0004g0058 a0001c0001t0001g0059 a0001c0004t0003g0060 a0001c0024t0004g0058	3	298	0.0101	30	c.119 others(47): Show c.119+1884_119+1885insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT		ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	1/29					INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79224928	G G	GCGACCTG others(23): Show GCGACCTGTCTCCAGCAGCTCCCAGGAACCA	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02055.hp2 HG02630.hp2 others(1): Show HG01952.hp2 HG02055.hp2 HG02630.hp2 HG02922.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0003 a0001c0004t0002 a0001c0004t0003	a0001c0004t0002g0095 a0001c0004t0002g0096 a0001c0004t0002g0097 others(1): Show a0001c0004t0002g0095 a0001c0004t0002g0096 a0001c0004t0002g0097 a0001c0004t0003g0098	4	298	0.0134	30	c.110 others(51): Show c.1107+10896_1107+10925dupTGTCTCCAGCAGCTCCCAGGAACC ACGACC		ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	11/29					INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79231803	T T	TATATATA others(23): Show TATATATATATATATATATATACACACACAC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02970.hp2 HG02809.hp1 HG02970.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0006 a0001c0011t0006	a0001c0011t0006g0105 a0001c0011t0006g0107 a0001c0011t0006g0105 a0001c0011t0006g0107	2	298	0.0067	30	c.110 others(51): Show c.1107+17766_1107+17767insTATATATATATATATATATACACA CACACA		ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	11/29					INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79256257	C C	CCATATAT others(23): Show CCATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0003 a0003	a0003c0021 a0003c0021	a0003c0021t0004 a0003c0021t0004	a0003c0021t0004g0284 a0003c0021t0004g0284	1	298	0.0034	30	c.126 others(49): Show c.1268+2716_1268+2717insCATATATATATATATATATATATATA TATA		ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	12/29						chr18	TogoVar
ATP9B_chr18_79064394_79383283	79256286	T T	TATATATA others(23): Show TATATATATATATATATATATACACACACAC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01069.hp1 HG01071.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0001 a0004c0008t0001g0001	2	298	0.0067	30	c.126 others(49): Show c.1268+2746_1268+2747insTATATATATATATATATATACACACA CACA		ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	12/29					INFO_REALIGN_3_PRIME	chr18	TogoVar
ATRNL1_chr10_115088365_115953999	115381432	A A	ATTTTTTT others(23): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02280.hp2 NA19043.hp1 HG01952.hp2 HG02280.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0001t0025 a0001c0002t0001 a0001c0001t0008 a0001c0001t0025 a0001c0002t0001	a0001c0001t0008g0023 a0001c0001t0025g0021 a0001c0002t0001g0052 a0001c0001t0008g0023 a0001c0001t0025g0021 a0001c0002t0001g0052	3	128	0.0234	30	c.317 others(51): Show c.3176-13210_3176-13209insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT		ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	19/28					INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115442270	G G	GCTCTCTC others(23): Show GCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0033 a0001c0001t0010g0033	1	128	0.0078	30	c.332 others(51): Show c.3322+15973_3322+16002dupCTCTCTCTCTCTCTCTCTCTCTCT CTCTCT		ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	21/28					INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115442303	C C	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTG	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0061 a0001c0001t0003g0061	1	128	0.0078	30	c.332 others(51): Show c.3322+16002_3322+16003insCTCTCTCTCTCTCTCTCTCTCTCT CTCTGT		ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	21/28					INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115442303	C C	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTGTG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0047 a0001c0003t0047	a0001c0003t0047g0128 a0001c0003t0047g0128	1	128	0.0078	30	c.332 others(51): Show c.3322+16002_3322+16003insCTCTCTCTCTCTCTCTCTCTCTCT CTGTGT		ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	21/28					INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115621276	T T	TATATATA others(23): Show TATATATATAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0117 a0001c0001t0036g0117	1	128	0.0078	30	c.379 others(51): Show c.3795+71741_3795+71742insTATATATAGAGAGAGAGAGAGAGA GAGAGA		ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	26/28					INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115621276	T T	TATATATA others(23): Show TATATATATATAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0107 a0001c0001t0048g0107	1	128	0.0078	30	c.379 others(51): Show c.3795+71741_3795+71742insTATATATATAGAGAGAGAGAGAGA GAGAGA		ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	26/28					INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115632864	T T	TTTTTATT others(23): Show TTTTTATTTTATTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG02015.hp1 HG02132.hp2 others(8): Show HG01943.hp2 HG02015.hp1 HG02132.hp2 HG02300.hp1 HG02523.hp1 HG03453.hp1 HG06807.hp1 NA18995.hp2 NA19003.hp1 NA19011.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0046 a0001c0010t0006	a0001c0001t0001g0055 a0001c0001t0001g0069 a0001c0001t0001g0070 others(8): Show a0001c0001t0001g0055 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0088 a0001c0001t0001g0101 a0001c0001t0001g0125 a0001c0001t0003g0074 a0001c0001t0003g0092 a0001c0001t0006g0100 a0001c0001t0046g0099 a0001c0010t0006g0087	11	128	0.0859	30	c.379 others(51): Show c.3795+83343_3795+83372dupATTTTATTTTATTTTATTTTATTT TATTTT		ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	26/28					INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115871469	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0011 a0002c0008t0011	a0002c0008t0011g0073 a0002c0008t0011g0073	1	128	0.0078	30	c.401 others(51): Show c.4018+23479_4018+23480insATATATATATATATATATATATAT ATATAT		ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	28/28					INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRN_chr20_3466018_3656118	3512107	A A	ATATATAT others(23): Show ATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02615.hp2 HG02109.hp2 HG02615.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0159 a0002c0004t0004g0160 a0002c0004t0004g0159 a0002c0004t0004g0160	2	220	0.0091	30	c.411 others(49): Show c.411-23145_411-23144insATATATATATATATATATATATTTTT TTTT		ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	1/28					INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRN_chr20_3466018_3656118	3512107	A A	ATATATAT others(23): Show ATATATATATATATATATATATTATATATTT	intron_variant intron_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0017 a0017	a0017c0032 a0017c0032	a0017c0032t0001 a0017c0032t0001	a0017c0032t0001g0195 a0017c0032t0001g0195	1	220	0.0046	30	c.411 others(49): Show c.411-23145_411-23144insATATATATATATATATATATTATATA TTTT		ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	1/28					INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRN_chr20_3466018_3656118	3597071	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG01358.hp1 NA19043.hp2 HG01358.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0001 a0001c0001t0015	a0001c0001t0001g0048 a0001c0001t0015g0005 a0001c0001t0001g0048 a0001c0001t0015g0005	2	220	0.0091	30	c.346 others(47): Show c.3469+645_3469+646insTATATATATATATATATATATATATAAA TA		ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	21/28					INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRX_chrX_77499880_77791216	77651217	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA19004.hp1 NA18966.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0089 a0001c0001t0002g0125 a0001c0001t0002g0089 a0001c0001t0002g0125	2	218	0.0092	30	c.455 others(47): Show c.4557+867_4557+896dupTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT		ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	15/34						chrX	TogoVar
ATRX_chrX_77499880_77791216	77790990	C C	CTATAAAT others(23): Show CTATAAATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG03453.hp2 HG03540.hp1 others(9): Show HG02615.hp1 HG03453.hp2 HG03540.hp1 NA18948.hp1 NA18970.hp1 NA18973.hp1 NA19003.hp1 NA19007.hp1 NA19080.hp1 NA19084.hp2 NA19240.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(6): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0018 a0001c0001t0020 a0001c0001t0021 a0001c0003t0001 a0002c0002t0001	a0001c0001t0002g0142 a0001c0001t0002g0189 a0001c0001t0003g0138 others(9): Show a0001c0001t0002g0142 a0001c0001t0002g0189 a0001c0001t0003g0138 a0001c0001t0004g0185 a0001c0001t0004g0191 a0001c0001t0004g0194 a0001c0001t0006g0179 a0001c0001t0018g0193 a0001c0001t0020g0180 a0001c0001t0021g0078 a0001c0003t0001g0080 a0002c0002t0001g0038	12	218	0.0551	30	c.-49 others(41): Show c.-4990_-4989insTATATATATATATATATATATATATTTATA		ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding					4775		chrX	TogoVar
ATXN10_chr22_45666834_45850307	45706698	G G	GTTTATTT others(23): Show GTTTATTTTCTAAATGTCCTTTTGTTACGGT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(307): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19011.hp1 NA19011.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0003c0002 a0001c0001 a0002c0003 a0003c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0002c0003t0001 a0003c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(307): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0106 a0001c0001t0001g0110 a0001c0001t0001g0114 a0001c0001t0001g0121 a0001c0001t0001g0129 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0002g0045 a0001c0001t0002g0089 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0113 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0120 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0134 a0001c0001t0002g0153 a0001c0001t0002g0202 a0001c0001t0002g0212 a0001c0001t0002g0248 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0003g0181 a0001c0001t0003g0308 a0001c0001t0004g0111 a0001c0001t0004g0112 a0001c0001t0004g0140 a0001c0001t0004g0225 a0001c0001t0004g0244 a0001c0001t0005g0070 a0001c0001t0005g0292 a0001c0001t0005g0293 a0001c0001t0007g0204 a0001c0001t0007g0205 a0001c0001t0008g0300 a0001c0001t0008g0302 a0001c0001t0009g0133 a0001c0001t0010g0103 a0001c0001t0011g0135 a0001c0001t0012g0080 a0001c0001t0013g0018 a0001c0001t0014g0076 a0001c0001t0015g0239 a0001c0001t0016g0301 a0001c0001t0017g0246 a0002c0003t0001g0184 a0003c0002t0001g0063	310	316	0.9810	30	c.647 others(47): Show c.647+3854_647+3855insATTTTCTAAATGTCCTTTTGTTACGGTT TT		ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	5/11					INFO_REALIGN_3_PRIME	chr22	TogoVar
ATXN10_chr22_45666834_45850307	45706698	G G	GTTTATTT others(23): Show GTTTATTTTCTAAATGTCCTTTTGTTATGGT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02258.hp2 HG02615.hp2 others(2): Show HG01884.hp2 HG02258.hp2 HG02615.hp2 HG02647.hp1 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0018 a0001c0001t0001 a0001c0001t0006 a0001c0001t0018	a0001c0001t0001g0068 a0001c0001t0006g0086 a0001c0001t0006g0117 others(2): Show a0001c0001t0001g0068 a0001c0001t0006g0086 a0001c0001t0006g0117 a0001c0001t0006g0119 a0001c0001t0018g0118	5	316	0.0158	30	c.647 others(47): Show c.647+3854_647+3855insATTTTCTAAATGTCCTTTTGTTATGGTT TT		ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	5/11					INFO_REALIGN_3_PRIME	chr22	TogoVar
ATXN10_chr22_45666834_45850307	45795415	A A	ATTCTATT others(23): Show ATTCTATTCTATTCTATTCTATTCTATTGTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 NA18988.hp1 NA19057.hp1 HG00140.hp2 NA18988.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0045 a0001c0001t0002g0092 a0001c0001t0002g0105 a0001c0001t0002g0045 a0001c0001t0002g0092 a0001c0001t0002g0105	3	316	0.0095	30	c.117 others(51): Show c.1174-11535_1174-11534insATTCTATTCTATTCTATTGTTTTC TATTCT		ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	9/11					INFO_REALIGN_3_PRIME	chr22	TogoVar
ATXN1_chr6_16294112_16766460	16440648	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAAAAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0032 a0032	a0032c0045 a0032c0045	a0032c0045t0018 a0032c0045t0018	a0032c0045t0018g0059 a0032c0045t0018g0059	1	182	0.0055	30	c.-16 others(51): Show c.-161+45323_-161+45324insCTTTCTTTCTTTTTTTTTTTTTTT TTTTTT		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	6/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16562453	A A	AAGGAAAG others(23): Show AAGGAAAGGAAACGAAAGGAGAGGAGAGGAG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp2 HG00597.hp1 others(11): Show HG00408.hp1 HG00438.hp2 HG00597.hp1 HG02056.hp2 HG02132.hp2 HG02523.hp1 HG02602.hp1 HG02615.hp2 HG02886.hp1 HG03492.hp2 NA18951.hp2 NA18957.hp1 NA18993.hp1 NA19009.hp1	a0002 a0003 a0004 others(5): Show a0002 a0003 a0004 a0006 a0010 a0017 a0020 a0023	a0002c0002 a0002c0004 a0003c0003 others(6): Show a0002c0002 a0002c0004 a0003c0003 a0004c0005 a0006c0043 a0010c0010 a0017c0040 a0020c0020 a0023c0035	a0002c0002t0002 a0002c0002t0008 a0002c0004t0001 others(7): Show a0002c0002t0002 a0002c0002t0008 a0002c0004t0001 a0003c0003t0037 a0004c0005t0002 a0006c0043t0010 a0010c0010t0006 a0017c0040t0007 a0020c0020t0032 a0023c0035t0001	a0002c0002t0002g0090 a0002c0002t0008g0081 a0002c0002t0008g0140 others(11): Show a0002c0002t0002g0090 a0002c0002t0008g0081 a0002c0002t0008g0140 a0002c0004t0001g0080 a0002c0004t0001g0174 a0003c0003t0037g0150 a0004c0005t0002g0072 a0004c0005t0002g0096 a0004c0005t0002g0160 a0006c0043t0010g0128 a0010c0010t0006g0008 a0017c0040t0007g0022 a0020c0020t0032g0099 a0023c0035t0001g0064	14	182	0.0769	30	c.-36 others(51): Show c.-361+23326_-361+23327insCTCCTCTCCTCTCCTTTCGTTTCC TTTCCT		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	4/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16562453	A A	AAGGAAAG others(23): Show AAGGAAAGGAAAGGAAAGGAAAGGAGAGGAG	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02055.hp1 HG02809.hp2 HG01261.hp2 HG02055.hp1 HG02809.hp2	a0002 a0024 a0002 a0024	a0002c0002 a0024c0018 a0002c0002 a0024c0018	a0002c0002t0001 a0002c0002t0003 a0024c0018t0001 a0002c0002t0001 a0002c0002t0003 a0024c0018t0001	a0002c0002t0001g0071 a0002c0002t0003g0061 a0024c0018t0001g0009 a0002c0002t0001g0071 a0002c0002t0003g0061 a0024c0018t0001g0009	3	182	0.0165	30	c.-36 others(51): Show c.-361+23326_-361+23327insCTCCTCTCCTTTCCTTTCCTTTCC TTTCCT		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	4/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16606867	T T	TTGTGTGT others(23): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01346.hp1 HG02056.hp2 others(22): Show HG00609.hp2 HG01346.hp1 HG02056.hp2 HG02486.hp2 HG02523.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02965.hp1 HG02965.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03834.hp1 HG04184.hp1 HG06807.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18944.hp1 NA18944.hp2 NA18972.hp1 NA18973.hp1 NA19060.hp2 NA20300.hp2	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0005 a0006 a0007 a0009 a0010 a0011 a0013 a0015	a0001c0001 a0002c0002 a0002c0004 others(10): Show a0001c0001 a0002c0002 a0002c0004 a0003c0003 a0005c0006 a0006c0008 a0006c0043 a0007c0009 a0009c0025 a0010c0010 a0011c0007 a0013c0013 a0015c0055	a0001c0001t0001 a0002c0002t0003 a0002c0002t0008 others(15): Show a0001c0001t0001 a0002c0002t0003 a0002c0002t0008 a0002c0002t0009 a0002c0002t0010 a0002c0004t0001 a0003c0003t0001 a0003c0003t0009 a0005c0006t0003 a0006c0008t0040 a0006c0043t0010 a0007c0009t0002 a0007c0009t0049 a0009c0025t0031 a0010c0010t0006 a0011c0007t0002 a0013c0013t0005 a0015c0055t0004	a0001c0001t0001g0178 a0002c0002t0003g0007 a0002c0002t0003g0061 others(22): Show a0001c0001t0001g0178 a0002c0002t0003g0007 a0002c0002t0003g0061 a0002c0002t0008g0063 a0002c0002t0008g0081 a0002c0002t0008g0138 a0002c0002t0009g0094 a0002c0002t0010g0015 a0002c0004t0001g0080 a0003c0003t0001g0042 a0003c0003t0001g0130 a0003c0003t0009g0055 a0005c0006t0003g0070 a0005c0006t0003g0166 a0006c0008t0040g0154 a0006c0043t0010g0128 a0007c0009t0002g0056 a0007c0009t0002g0126 a0007c0009t0049g0005 a0009c0025t0031g0058 a0010c0010t0006g0014 a0011c0007t0002g0169 a0011c0007t0002g0172 a0013c0013t0005g0100 a0015c0055t0004g0067	25	182	0.1374	30	c.-48 others(51): Show c.-488-20961_-488-20960insCACACACACACACACACACACACA CACACA		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	3/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16730487	G G	GTGTATAT others(23): Show GTGTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0136 a0002c0002t0007g0136	1	182	0.0055	30	c.-61 others(51): Show c.-615+22745_-615+22746insTATATATATATATATATATATATA TATACA		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	2/7						chr6	TogoVar
ATXN2_chr12_111447214_111604315	111576137	T T	TAACATAA others(23): Show TAACATAACATAACATAACATAACATCACAC	intron_variant intron_variant	MODIFIER	HG03239.hp1 NA18950.hp1 HG03239.hp1 NA18950.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0032 a0002c0002t0001g0069 a0002c0002t0001g0032 a0002c0002t0001g0069	2	298	0.0067	30	c.252 others(49): Show c.252-20219_252-20218insGTGTGATGTTATGTTATGTTATGTTA TGTT		ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	1/24						chr12	TogoVar
ATXN2_chr12_111447214_111604315	111588991	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0061 a0002c0002t0001g0061	1	298	0.0034	30	c.251 others(47): Show c.251+9763_251+9792dupTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT		ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	1/24						chr12	TogoVar
ATXN3_chr14_92053552_92111582	92071009	C C	CGCTGCTG others(23): Show CGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG03139.hp2 NA18906.hp2 HG03139.hp2 NA18906.hp2	a0034 a0034	a0034c0038 a0034c0038	a0034c0038t0002 a0034c0038t0011 a0034c0038t0002 a0034c0038t0011	a0034c0038t0002g0165 a0034c0038t0011g0164 a0034c0038t0002g0165 a0034c0038t0011g0164	2	402	0.0050	30	c.916 others(37): Show c.916_917insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	p.Gly others(42): Show p.Gly306delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	ATXN3	ENSG00000066427.25	transcript	ENST00000644486.2	protein_coding	10/11	946/6884	916/1086	306/361			chr14	TogoVar
ATXN3_chr14_92053552_92111582	92071010	C C	CCTGCTGC others(23): Show CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00280.hp2 HG01261.hp2 HG02300.hp1 others(17): Show HG00280.hp2 HG01261.hp2 HG02300.hp1 HG02300.hp2 HG02809.hp1 HG02970.hp2 HG03486.hp1 HG03579.hp2 NA18939.hp2 NA18941.hp2 NA18950.hp2 NA18959.hp1 NA18971.hp2 NA18978.hp2 NA18993.hp1 NA19066.hp2 NA19080.hp2 NA19091.hp1 NA20129.hp2 NA20300.hp2	a0005 a0005	a0005c0006 a0005c0018 a0005c0006 a0005c0018	a0005c0006t0007 a0005c0006t0012 a0005c0006t0028 others(6): Show a0005c0006t0007 a0005c0006t0012 a0005c0006t0028 a0005c0006t0090 a0005c0006t0119 a0005c0006t0120 a0005c0018t0003 a0005c0018t0017 a0005c0018t0018	a0005c0006t0007g0327 a0005c0006t0007g0328 a0005c0006t0007g0363 others(16): Show a0005c0006t0007g0327 a0005c0006t0007g0328 a0005c0006t0007g0363 a0005c0006t0012g0286 a0005c0006t0012g0329 a0005c0006t0012g0335 a0005c0006t0012g0336 a0005c0006t0012g0339 a0005c0006t0012g0340 a0005c0006t0028g0005 a0005c0006t0028g0194 a0005c0006t0090g0359 a0005c0006t0119g0192 a0005c0006t0120g0193 a0005c0018t0003g0175 a0005c0018t0017g0139 a0005c0018t0017g0182 a0005c0018t0017g0356 a0005c0018t0018g0205	20	402	0.0498	30	c.915 others(37): Show c.915_916insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	p.Gln others(43): Show p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnGlnGlnGln	ATXN3	ENSG00000066427.25	transcript	ENST00000644486.2	protein_coding	10/11	945/6884	915/1086	305/361			chr14	TogoVar

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