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
ATP9B_chr18_79064394_79383283	79296923	C C	CAGAGAGA others(17): Show CAGAGAGATGACCCAGAGAGGAGAA	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0039 a0001c0039	a0001c0039t0002 a0001c0039t0002	a0001c0039t0002g0266 a0001c0039t0002g0266	1	298	0.0034	24	c.141 others(43): Show c.1412-6657_1412-6634dupAAGAGAGATGACCCAGAGAGGAGA		ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	13/29					INFO_REALIGN_3_PRIME	chr18	TogoVar
ATPAF2_chr17_18013021_18044168	18019147	C C	CCACACAC others(17): Show CCACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02165.hp2 HG03491.hp2 others(1): Show HG01433.hp1 HG02165.hp2 HG03491.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0139 a0001c0001t0001g0206 others(1): Show a0001c0001t0001g0128 a0001c0001t0001g0139 a0001c0001t0001g0206 a0001c0001t0001g0242	4	328	0.0122	24	c.733 others(39): Show c.733-485_733-462dupTGTGTGTGTGTGTGTGTGTGTGTG		ATPAF2	ENSG00000171953.16	transcript	ENST00000474627.8	protein_coding	7/7						chr17	TogoVar
ATRNL1_chr10_115088365_115953999	115381432	A A	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01891.hp1 HG03486.hp2 HG00735.hp2 HG01891.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0002 a0001c0011t0002 a0001c0001t0002 a0001c0011t0002	a0001c0001t0002g0111 a0001c0001t0002g0114 a0001c0011t0002g0116 a0001c0001t0002g0111 a0001c0001t0002g0114 a0001c0011t0002g0116	3	128	0.0234	24	c.317 others(45): Show c.3176-13210_3176-13209insTTTTTTTTTTTTTTTTTTTTTTTT		ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	19/28					INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115389550	A A	ATATATGT others(17): Show ATATATGTATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0033 a0001c0006t0033	a0001c0006t0033g0035 a0001c0006t0033g0035	1	128	0.0078	24	c.317 others(43): Show c.3176-5104_3176-5103insGTATATATATATATATATGTATAT		ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	19/28					INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115442303	C C	CTCTCTCT others(17): Show CTCTCTCTCTCTCTCTCTCTCTCTG	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01258.hp2 HG03195.hp1 HG01123.hp2 HG01258.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0014 a0001c0002t0001 a0001c0002t0005 a0001c0001t0014 a0001c0002t0001 a0001c0002t0005	a0001c0001t0014g0001 a0001c0002t0001g0048 a0001c0002t0005g0046 a0001c0001t0014g0001 a0001c0002t0001g0048 a0001c0002t0005g0046	3	128	0.0234	24	c.332 others(45): Show c.3322+16002_3322+16003insCTCTCTCTCTCTCTCTCTCTCTGT		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(17): Show CTCTCTCTCTCTCTCTCTCTCTGTG	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0127 a0001c0002t0004g0127	1	128	0.0078	24	c.332 others(45): Show c.3322+16002_3322+16003insCTCTCTCTCTCTCTCTCTCTGTGT		ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	21/28					INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115528037	T T	TCTTCCTT others(17): Show TCTTCCTTCCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02895.hp1 HG02897.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0012 a0002c0004t0012	a0002c0004t0012g0025 a0002c0004t0012g0026 a0002c0004t0012g0025 a0002c0004t0012g0026	2	128	0.0156	24	c.371 others(43): Show c.3716+8725_3716+8748dupCCTTCCTTCCTTCCTTCCTTCCTT		ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	25/28					INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115598348	A A	AATTTATT others(17): Show AATTTATTTATTTATTTATTTATTT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01891.hp1 HG02622.hp2 others(7): Show HG00738.hp2 HG01891.hp1 HG02622.hp2 HG02970.hp1 HG02976.hp1 HG03195.hp2 HG03239.hp2 HG03471.hp2 HG03579.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0013 a0001c0001 a0001c0005 a0001c0013	a0001c0001t0002 a0001c0001t0010 a0001c0001t0015 others(6): Show a0001c0001t0002 a0001c0001t0010 a0001c0001t0015 a0001c0001t0020 a0001c0001t0035 a0001c0001t0036 a0001c0001t0043 a0001c0005t0018 a0001c0013t0009	a0001c0001t0002g0111 a0001c0001t0002g0113 a0001c0001t0010g0033 others(7): Show a0001c0001t0002g0111 a0001c0001t0002g0113 a0001c0001t0010g0033 a0001c0001t0015g0064 a0001c0001t0020g0115 a0001c0001t0035g0118 a0001c0001t0036g0117 a0001c0001t0043g0094 a0001c0005t0018g0003 a0001c0013t0009g0078	10	128	0.0781	24	c.379 others(45): Show c.3795+48813_3795+48814insTTTATTTATTTATTTATTTATTTA		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(17): Show TATATATATATATATAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0037 a0001c0003t0037	a0001c0003t0037g0121 a0001c0003t0037g0121	1	128	0.0078	24	c.379 others(45): Show c.3795+71741_3795+71742insTATATATATATATAGAGAGAGAGA		ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	26/28					INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115738154	T T	TTTTTTTT others(17): Show TTTTTTTTTTTTTTTTTTTTTTTTC	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	128	0.0078	24	c.390 others(45): Show c.3903+10801_3903+10802insTTTTTTTTTTTTTTTTTTTTTCTT		ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	27/28					INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115856428	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02896.hp2 HG02559.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0042 a0001c0001t0010 a0001c0001t0042	a0001c0001t0010g0018 a0001c0001t0042g0095 a0001c0001t0010g0018 a0001c0001t0042g0095	2	128	0.0156	24	c.401 others(43): Show c.4018+8459_4018+8460insAAAAAAAAAAAAAAAAAAAAAAAA		ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	28/28					INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115871473	G G	GTATATAT others(17): Show GTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0019 a0001c0001t0013g0019	1	128	0.0078	24	c.401 others(45): Show c.4018+23483_4018+23484insATATATATATATATATATATATAT		ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	28/28					INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRN_chr20_3466018_3656118	3576695	G G	GTCTGTCT others(17): Show GTCTGTCTGTCTATCTATCTATCTA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG03490.hp1 NA18961.hp2 HG00621.hp2 HG03490.hp1 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0027 a0001c0001t0001g0070 a0001c0001t0001g0013 a0001c0001t0001g0027 a0001c0001t0001g0070	3	220	0.0136	24	c.221 others(41): Show c.2215-161_2215-160insGTCTGTCTATCTATCTATCTATCT		ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	13/28					INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRN_chr20_3466018_3656118	3576695	G G	GTCTGTCT others(17): Show GTCTGTCTGTCTGTCTATCTATCTA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02922.hp2 HG02965.hp2 others(3): Show HG02630.hp1 HG02922.hp2 HG02965.hp2 HG04228.hp2 NA18959.hp2 NA19086.hp2	a0001 a0004 a0008 a0001 a0004 a0008	a0001c0001 a0004c0016 a0008c0030 others(1): Show a0001c0001 a0004c0016 a0008c0030 a0008c0031	a0001c0001t0001 a0001c0001t0002 a0004c0016t0013 others(2): Show a0001c0001t0001 a0001c0001t0002 a0004c0016t0013 a0008c0030t0011 a0008c0031t0036	a0001c0001t0001g0039 a0001c0001t0002g0002 a0001c0001t0002g0041 others(3): Show a0001c0001t0001g0039 a0001c0001t0002g0002 a0001c0001t0002g0041 a0004c0016t0013g0167 a0008c0030t0011g0093 a0008c0031t0036g0139	6	220	0.0273	24	c.221 others(41): Show c.2215-161_2215-160insGTCTGTCTGTCTATCTATCTATCT		ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	13/28					INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRN_chr20_3466018_3656118	3597071	T T	TATATATA others(17): Show TATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00735.hp2 HG00741.hp1 others(6): Show HG00733.hp1 HG00735.hp2 HG00741.hp1 HG01109.hp1 HG01261.hp1 HG01361.hp1 HG01981.hp1 HG02109.hp1 HG02698.hp2	a0001 a0016 a0001 a0016	a0001c0001 a0001c0002 a0016c0028 a0001c0001 a0001c0002 a0016c0028	a0001c0001t0001 a0001c0001t0013 a0001c0002t0006 others(1): Show a0001c0001t0001 a0001c0001t0013 a0001c0002t0006 a0016c0028t0001	a0001c0001t0001g0042 a0001c0001t0001g0071 a0001c0001t0001g0072 others(6): Show a0001c0001t0001g0042 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0141 a0001c0001t0013g0136 a0001c0002t0006g0049 a0001c0002t0006g0051 a0001c0002t0006g0069 a0016c0028t0001g0074	9	220	0.0409	24	c.346 others(41): Show c.3469+645_3469+646insTATATATATATATATATATAAATA		ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	21/28					INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRX_chrX_77499880_77791216	77556211	A A	AAGGGAGA others(17): Show AAGGGAGAGAGGGAGAGAGGGAGAG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02602.hp1 HG02723.hp2 others(5): Show HG02280.hp1 HG02602.hp1 HG02723.hp2 HG02970.hp1 HG03098.hp1 HG03540.hp2 HG04184.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0003t0001	a0001c0001t0001g0087 a0001c0001t0001g0195 a0001c0001t0003g0163 others(5): Show a0001c0001t0001g0087 a0001c0001t0001g0195 a0001c0001t0003g0163 a0001c0001t0003g0164 a0001c0001t0010g0083 a0001c0003t0001g0151 a0001c0003t0001g0152 a0001c0003t0001g0176	8	218	0.0367	24	c.669 others(43): Show c.6699+1216_6699+1239dupCTCTCCCTCTCTCCCTCTCTCCCT		ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	30/34						chrX	TogoVar
ATRX_chrX_77499880_77791216	77585583	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0184 a0001c0001t0002g0184	1	218	0.0046	24	c.621 others(43): Show c.6217+4227_6217+4250dupTTTTTTTTTTTTTTTTTTTTTTTT		ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	27/34						chrX	TogoVar
ATRX_chrX_77499880_77791216	77651217	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 NA19055.hp1 HG00609.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0014 a0001c0001t0002 a0001c0001t0014	a0001c0001t0002g0106 a0001c0001t0014g0150 a0001c0001t0002g0106 a0001c0001t0014g0150	2	218	0.0092	24	c.455 others(41): Show c.4557+873_4557+896dupTTTTTTTTTTTTTTTTTTTTTTTT		ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	15/34						chrX	TogoVar
ATRX_chrX_77499880_77791216	77790990	C C	CTATAAAT others(17): Show CTATAAATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp1 NA19030.hp2 HG02717.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0007 a0001c0010t0006 a0001c0001t0007 a0001c0010t0006	a0001c0001t0007g0066 a0001c0010t0006g0197 a0001c0001t0007g0066 a0001c0010t0006g0197	2	218	0.0092	24	c.-49 others(35): Show c.-4990_-4989insTATATATATATATATATATTTATA		ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding					4775		chrX	TogoVar
ATR_chr3_142444235_142583733	142496310	A A	ATATATAT others(17): Show ATATATATGTATATATATATACATG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02622.hp1 HG01243.hp1 HG02622.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0149 a0001c0004t0001g0312 a0001c0004t0001g0149 a0001c0004t0001g0312	2	322	0.0062	24	c.589 others(39): Show c.5898+50_5898+51insCATGTATATATATATACATATATA		ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	34/46						chr3	TogoVar
ATR_chr3_142444235_142583733	142516983	T T	TTATATAT others(17): Show TTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03579.hp2 HG01891.hp1 HG03579.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0318 a0001c0004t0001g0319 a0001c0004t0001g0318 a0001c0004t0001g0319	2	322	0.0062	24	c.438 others(43): Show c.4383-1469_4383-1468insTATATATATATATATATATATATA		ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	24/46						chr3	TogoVar
ATR_chr3_142444235_142583733	142516984	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG03017.hp1 NA19009.hp1 HG01496.hp2 HG03017.hp1 NA19009.hp1	a0001 a0001	a0001c0004 a0001c0008 a0001c0004 a0001c0008	a0001c0004t0001 a0001c0008t0001 a0001c0004t0001 a0001c0008t0001	a0001c0004t0001g0025 a0001c0004t0001g0154 a0001c0008t0001g0197 a0001c0004t0001g0025 a0001c0004t0001g0154 a0001c0008t0001g0197	3	322	0.0093	24	c.438 others(43): Show c.4383-1470_4383-1469insATATATATATATATATATATATAT		ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	24/46						chr3	TogoVar
ATR_chr3_142444235_142583733	142528879	A A	ATATATAT others(17): Show ATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0169 a0003c0003t0001g0169	1	322	0.0031	24	c.394 others(43): Show c.3946-4681_3946-4680insAAAATATATATATATATATATATA		ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	21/46						chr3	TogoVar
ATR_chr3_142444235_142583733	142528879	A A	ATATATAT others(17): Show ATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0012 a0012	a0012c0021 a0012c0021	a0012c0021t0001 a0012c0021t0001	a0012c0021t0001g0320 a0012c0021t0001g0320	1	322	0.0031	24	c.394 others(43): Show c.3946-4681_3946-4680insAAAAAAAAAATATATATATATATA		ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	21/46						chr3	TogoVar
ATXN1_chr6_16294112_16766460	16526064	T T	TATATATA others(17): Show TATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0018 a0018	a0018c0054 a0018c0054	a0018c0054t0001 a0018c0054t0001	a0018c0054t0001g0115 a0018c0054t0001g0115	1	182	0.0055	24	c.-36 others(43): Show c.-360-3377_-360-3376insGTGTATATATATATATATATATAT		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	4/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16526064	T T	TATATATA others(17): Show TATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG03130.hp2 HG01255.hp2 HG03130.hp2	a0006 a0007 a0006 a0007	a0006c0008 a0007c0059 a0006c0008 a0007c0059	a0006c0008t0002 a0007c0059t0012 a0006c0008t0002 a0007c0059t0012	a0006c0008t0002g0137 a0007c0059t0012g0030 a0006c0008t0002g0137 a0007c0059t0012g0030	2	182	0.0110	24	c.-36 others(43): Show c.-360-3377_-360-3376insGTATATATATATATATATATATAT		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	4/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16606867	T T	TTGTGTGT others(17): Show TTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp1 HG01168.hp2 others(11): Show HG00423.hp2 HG00438.hp1 HG01168.hp2 HG01257.hp1 HG02004.hp1 HG02056.hp1 HG02615.hp1 HG02809.hp1 HG03927.hp1 NA18747.hp2 NA18951.hp1 NA18955.hp1 NA18960.hp1 NA18960.hp2	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0005 a0008 a0012 a0015	a0001c0001 a0002c0004 a0004c0015 others(5): Show a0001c0001 a0002c0004 a0004c0015 a0004c0023 a0005c0006 a0008c0012 a0012c0011 a0015c0030	a0001c0001t0001 a0001c0001t0002 a0002c0004t0017 others(7): Show a0001c0001t0001 a0001c0001t0002 a0002c0004t0017 a0004c0015t0001 a0004c0023t0002 a0004c0023t0009 a0005c0006t0003 a0008c0012t0005 a0012c0011t0004 a0015c0030t0014	a0001c0001t0001g0045 a0001c0001t0001g0105 a0001c0001t0001g0158 others(11): Show a0001c0001t0001g0045 a0001c0001t0001g0105 a0001c0001t0001g0158 a0001c0001t0002g0129 a0002c0004t0017g0179 a0004c0015t0001g0157 a0004c0023t0002g0035 a0004c0023t0009g0110 a0005c0006t0003g0006 a0008c0012t0005g0078 a0008c0012t0005g0092 a0008c0012t0005g0168 a0012c0011t0004g0050 a0015c0030t0014g0102	14	182	0.0769	24	c.-48 others(45): Show c.-488-20961_-488-20960insCACACACACACACACACACACACA		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	3/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16730483	G G	GTATATAT others(17): Show GTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0016 a0016	a0016c0014 a0016c0014	a0016c0014t0012 a0016c0014t0012	a0016c0014t0012g0135 a0016c0014t0012g0135	1	182	0.0055	24	c.-61 others(45): Show c.-615+22749_-615+22750insTATATATATATATATATATATATA		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	2/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16730487	G G	GTGTATAT others(17): Show GTGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02004.hp1 HG02004.hp2 others(1): Show HG01361.hp1 HG02004.hp1 HG02004.hp2 NA18960.hp2	a0001 a0008 a0014 a0001 a0008 a0014	a0001c0001 a0001c0029 a0008c0012 others(1): Show a0001c0001 a0001c0029 a0008c0012 a0014c0017	a0001c0001t0001 a0001c0029t0039 a0008c0012t0005 others(1): Show a0001c0001t0001 a0001c0029t0039 a0008c0012t0005 a0014c0017t0004	a0001c0001t0001g0045 a0001c0029t0039g0041 a0008c0012t0005g0168 others(1): Show a0001c0001t0001g0045 a0001c0029t0039g0041 a0008c0012t0005g0168 a0014c0017t0004g0044	4	182	0.0220	24	c.-61 others(45): Show c.-615+22745_-615+22746insTATATATATATATATATATATACA		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	2/7						chr6	TogoVar
ATXN2L_chr16_28817999_28842232	28822980	T T	TCCTCCCT others(17): Show TCCTCCCTCTCCGCTCCCCGGCGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	382	0.0026	24	c.-28 others(33): Show c.-280_-279insCCTCCCTCTCCGCTCCCCGGCGAC		ATXN2L	ENSG00000168488.19	transcript	ENST00000336783.9	protein_coding					18		chr16	TogoVar
ATXN2_chr12_111447214_111604315	111566332	T T	TGAGGCAG others(17): Show TGAGGCAGGAGAATTGCTTGAACCC	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0166 a0001c0003t0001g0166	1	298	0.0034	24	c.252 others(43): Show c.252-10437_252-10414dupGGGTTCAAGCAATTCTCCTGCCTC		ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	1/24						chr12	TogoVar
ATXN2_chr12_111447214_111604315	111576132	T T	TAACATAA others(17): Show TAACATAACATAACATAACATAACA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02572.hp1 HG02818.hp1 others(3): Show HG02109.hp2 HG02572.hp1 HG02818.hp1 HG02886.hp1 HG03486.hp2 NA18906.hp2	a0003 a0003	a0003c0004 a0003c0014 a0003c0004 a0003c0014	a0003c0004t0003 a0003c0014t0003 a0003c0004t0003 a0003c0014t0003	a0003c0004t0003g0094 a0003c0004t0003g0096 a0003c0004t0003g0103 others(3): Show a0003c0004t0003g0094 a0003c0004t0003g0096 a0003c0004t0003g0103 a0003c0004t0003g0104 a0003c0004t0003g0105 a0003c0014t0003g0003	6	298	0.0201	24	c.252 others(43): Show c.252-20214_252-20213insTGTTATGTTATGTTATGTTATGTT		ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	1/24						chr12	TogoVar
ATXN2_chr12_111447214_111604315	111598951	C C	CTGCTGCT others(17): Show CTGCTGCTGCTGCTGCTGCTGCTGT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18979.hp2 NA18979.hp2	a0020 a0020	a0020c0025 a0020c0025	a0020c0025t0001 a0020c0025t0001	a0020c0025t0001g0121 a0020c0025t0001g0121	1	298	0.0034	24	c.83_ others(29): Show c.83_84insACAGCAGCAGCAGCAGCAGCAGCA	p.Gln others(11): Show p.Gln21_Gln28dup	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	1/25	364/4347	83/3468	28/1155			chr12	TogoVar
ATXN3_chr14_92053552_92111582	92071010	C C	CCTGCTGC others(17): Show CCTGCTGCTGCTGCTGCTGCTGCTG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01081.hp2 HG01255.hp1 HG01891.hp2 others(12): Show HG01081.hp2 HG01255.hp1 HG01891.hp2 HG01978.hp2 HG02280.hp1 HG02559.hp2 HG02622.hp1 HG02886.hp2 HG02976.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03453.hp2 HG03486.hp2 HG06807.hp1	a0011 a0014 a0011 a0014	a0011c0013 a0011c0063 a0011c0065 others(1): Show a0011c0013 a0011c0063 a0011c0065 a0014c0015	a0011c0013t0021 a0011c0013t0027 a0011c0013t0044 others(7): Show a0011c0013t0021 a0011c0013t0027 a0011c0013t0044 a0011c0013t0102 a0011c0063t0098 a0011c0065t0116 a0014c0015t0026 a0014c0015t0035 a0014c0015t0036 a0014c0015t0093	a0011c0013t0021g0023 a0011c0013t0021g0027 a0011c0013t0027g0020 others(12): Show a0011c0013t0021g0023 a0011c0013t0021g0027 a0011c0013t0027g0020 a0011c0013t0027g0021 a0011c0013t0027g0022 a0011c0013t0044g0029 a0011c0013t0102g0028 a0011c0063t0098g0315 a0011c0065t0116g0388 a0014c0015t0026g0184 a0014c0015t0035g0186 a0014c0015t0035g0188 a0014c0015t0036g0185 a0014c0015t0036g0187 a0014c0015t0093g0387	15	402	0.0373	24	c.892 others(31): Show c.892_915dupCAGCAGCAGCAGCAGCAGCAGCAG	p.Gln others(13): Show p.Gln298_Gln305dup	ATXN3	ENSG00000066427.25	transcript	ENST00000644486.2	protein_coding	10/11	945/6884	915/1086	305/361			chr14	TogoVar
ATXN7L1_chr7_105599772_105881599	105692403	T T	TTCCTTCC others(17): Show TTCCTTCCTTCCTTCCTTCCCTCCC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02055.hp2 NA19060.hp1 HG01074.hp1 HG02055.hp2 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0017 a0001c0001t0005 a0001c0001t0017	a0001c0001t0005g0206 a0001c0001t0005g0248 a0001c0001t0017g0194 a0001c0001t0005g0206 a0001c0001t0005g0248 a0001c0001t0017g0194	3	252	0.0119	24	c.356 others(43): Show c.356-27116_356-27115insGGGAGGGAAGGAAGGAAGGAAGGA		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105692407	T T	TTCCTTCC others(17): Show TTCCTTCCTTCCTTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01167.hp2 HG01169.hp2 others(5): Show HG00741.hp2 HG01167.hp2 HG01169.hp2 HG01943.hp2 HG02145.hp2 HG03471.hp1 NA19086.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 others(4): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0014 a0001c0001t0019 a0001c0001t0063 a0001c0007t0038	a0001c0001t0003g0071 a0001c0001t0003g0118 a0001c0001t0004g0039 others(5): Show a0001c0001t0003g0071 a0001c0001t0003g0118 a0001c0001t0004g0039 a0001c0001t0009g0146 a0001c0001t0014g0123 a0001c0001t0019g0062 a0001c0001t0063g0041 a0001c0007t0038g0158	8	252	0.0318	24	c.356 others(43): Show c.356-27120_356-27119insGGGAGGGAGGGAAGGAAGGAAGGA		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105692407	T T	TTCCTTCC others(17): Show TTCCTTCCTTCCTTCCTTCCCTCCC	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA19056.hp2 NA18954.hp1 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0044 a0001c0001t0001g0009 a0001c0001t0001g0044	2	252	0.0079	24	c.356 others(43): Show c.356-27120_356-27119insGGGAGGGAAGGAAGGAAGGAAGGA		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105692411	T T	TTCCTTCC others(17): Show TTCCTTCCTTCCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA19054.hp2 NA18945.hp1 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0002 a0001c0012t0003 a0001c0001t0002 a0001c0012t0003	a0001c0001t0002g0186 a0001c0012t0003g0047 a0001c0001t0002g0186 a0001c0012t0003g0047	2	252	0.0079	24	c.356 others(43): Show c.356-27124_356-27123insGGGAGGGAGGGAGGGAAGGAAGGA		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105692411	T T	TTCCTTCC others(17): Show TTCCTTCCTTCCTTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG02280.hp1 HG01069.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0037 a0001c0001t0003 a0001c0001t0037	a0001c0001t0003g0150 a0001c0001t0037g0065 a0001c0001t0003g0150 a0001c0001t0037g0065	2	252	0.0079	24	c.356 others(43): Show c.356-27124_356-27123insGGGAGGGAGGGAAGGAAGGAAGGA		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105692424	T T	TCCCTCCC others(17): Show TCCCTCCCTCCTTCCTTCCTTCCTC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0030 a0002c0002t0030	a0002c0002t0030g0212 a0002c0002t0030g0212	1	252	0.0040	24	c.356 others(43): Show c.356-27137_356-27136insGAGGAAGGAAGGAAGGAGGGAGGG		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105740784	T T	TTTTTTTT others(17): Show TTTTTTTTTTTTTTTTTTTTTTTGA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00735.hp1 HG00741.hp1 others(61): Show HG00642.hp1 HG00735.hp1 HG00741.hp1 HG00741.hp2 HG01175.hp2 HG01256.hp1 HG01261.hp1 HG01358.hp2 HG01891.hp1 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01981.hp1 HG02015.hp2 HG02027.hp2 HG02055.hp1 HG02071.hp1 HG02071.hp2 HG02083.hp2 HG02129.hp2 HG02132.hp1 HG02155.hp2 HG02165.hp2 HG02572.hp1 HG02630.hp1 HG02723.hp2 HG02738.hp2 HG02818.hp2 HG02895.hp1 HG02965.hp2 HG03041.hp1 HG03225.hp1 HG03239.hp2 HG03491.hp1 HG03540.hp1 HG03579.hp1 HG06807.hp1 NA18522.hp2 NA18747.hp2 NA18943.hp1 NA18943.hp2 NA18957.hp1 NA18989.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp2 NA19010.hp1 NA19060.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp2 NA19079.hp1 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19240.hp1 NA20129.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0002 a0001c0001 a0001c0005 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(27): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0021 a0001c0001t0022 a0001c0001t0029 a0001c0001t0034 a0001c0001t0035 a0001c0001t0042 a0001c0001t0043 a0001c0001t0046 a0001c0001t0047 a0001c0005t0007 a0002c0002t0022 a0002c0002t0032 a0002c0002t0059	a0001c0001t0001g0078 a0001c0001t0001g0106 a0001c0001t0001g0108 others(61): Show a0001c0001t0001g0078 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0163 a0001c0001t0001g0185 a0001c0001t0001g0214 a0001c0001t0001g0225 a0001c0001t0002g0021 a0001c0001t0002g0042 a0001c0001t0002g0048 a0001c0001t0002g0053 a0001c0001t0002g0142 a0001c0001t0002g0167 a0001c0001t0002g0173 a0001c0001t0002g0188 a0001c0001t0003g0011 a0001c0001t0003g0029 a0001c0001t0003g0050 a0001c0001t0003g0086 a0001c0001t0003g0100 a0001c0001t0003g0147 a0001c0001t0003g0238 a0001c0001t0004g0023 a0001c0001t0004g0137 a0001c0001t0004g0198 a0001c0001t0005g0025 a0001c0001t0005g0159 a0001c0001t0006g0034 a0001c0001t0006g0067 a0001c0001t0006g0168 a0001c0001t0007g0057 a0001c0001t0007g0202 a0001c0001t0007g0217 a0001c0001t0008g0045 a0001c0001t0008g0175 a0001c0001t0008g0249 a0001c0001t0009g0013 a0001c0001t0009g0020 a0001c0001t0009g0103 a0001c0001t0009g0146 a0001c0001t0010g0228 a0001c0001t0011g0099 a0001c0001t0011g0164 a0001c0001t0014g0233 a0001c0001t0015g0109 a0001c0001t0016g0061 a0001c0001t0017g0213 a0001c0001t0018g0046 a0001c0001t0018g0094 a0001c0001t0019g0062 a0001c0001t0021g0184 a0001c0001t0022g0224 a0001c0001t0029g0072 a0001c0001t0034g0068 a0001c0001t0035g0151 a0001c0001t0042g0161 a0001c0001t0043g0105 a0001c0001t0046g0138 a0001c0001t0047g0121 a0001c0005t0007g0209 a0002c0002t0022g0066 a0002c0002t0022g0220 a0002c0002t0032g0149 a0002c0002t0059g0200	64	252	0.2540	24	c.355 others(43): Show c.355+47819_355+47820insTCAAAAAAAAAAAAAAAAAAAAAA		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105784458	A A	ACACACAC others(17): Show ACACACACACACACACACACACACT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0031 a0006c0010t0031	a0006c0010t0031g0204 a0006c0010t0031g0204	1	252	0.0040	24	c.355 others(41): Show c.355+4145_355+4146insAGTGTGTGTGTGTGTGTGTGTGTG		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105878166	T T	TTTCCTTC others(17): Show TTTCCTTCCTTCCTTCTTTCCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0218 a0001c0001t0007g0218	1	252	0.0040	24	c.-16 others(35): Show c.-1609_-1608insGGAAGGAAAGAAGGAAGGAAGGAA		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding					1568		chr7	TogoVar
AURKB_chr17_8199734_8215575	8214607	T T	TATATATA others(17): Show TATATATATATATACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	428	0.0023	24	c.-41 others(35): Show c.-4104_-4103insGTGTGTGTGTGTATATATATATAT		AURKB	ENSG00000178999.13	transcript	ENST00000585124.6	protein_coding					4033		chr17	TogoVar
AURKB_chr17_8199734_8215575	8214607	T T	TATATATA others(17): Show TATATATATATATATACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	428	0.0023	24	c.-41 others(35): Show c.-4104_-4103insGTGTGTGTGTATATATATATATAT		AURKB	ENSG00000178999.13	transcript	ENST00000585124.6	protein_coding					4033		chr17	TogoVar
AURKC_chr19_57226023_57240548	57239587	T T	TAGAGAGA others(17): Show TAGAGAGAGAGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG00597.hp1 HG00738.hp2 others(15): Show HG00558.hp1 HG00597.hp1 HG00738.hp2 HG01192.hp2 HG02132.hp1 HG02132.hp2 HG02523.hp2 HG02559.hp2 HG02976.hp2 HG03139.hp1 HG03831.hp2 HG04199.hp1 NA18951.hp2 NA18954.hp1 NA18974.hp2 NA18980.hp1 NA19005.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0017 a0001c0001t0001g0044 a0001c0001t0001g0001 a0001c0001t0001g0017 a0001c0001t0001g0044	18	410	0.0439	24	c.41 others(35): Show c.4170_*4171insAGAGAGAGAGAGAGAGAGAGAGAG		AURKC	ENSG00000105146.14	transcript	ENST00000302804.12	protein_coding					4040		chr19	TogoVar
AUTS2_chr7_69593475_70798506	69614314	C C	CTCTTTCT others(17): Show CTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0006 a0001c0007t0006	a0001c0007t0006g0027 a0001c0007t0006g0027	1	76	0.0132	24	c.309 others(43): Show c.309+14382_309+14405dupCTTTCTTTCTTTCTTTCTTTCTTT		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	69614322	T T	TTCTTTCT others(17): Show TTCTTTCTTTCTTTCTTTCTTTCTC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	76	0.0132	24	c.309 others(43): Show c.309+14383_309+14384insCTCTTTCTTTCTTTCTTTCTTTCT		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	69870447	T T	TTATATAT others(17): Show TTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0026 a0002c0002t0026	a0002c0002t0026g0011 a0002c0002t0026g0011	1	76	0.0132	24	c.310 others(43): Show c.310-28839_310-28838insTATATATATATATATATATATATA		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18						chr7	TogoVar
AUTS2_chr7_69593475_70798506	69870448	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00741.hp2 others(10): Show HG00099.hp1 HG00280.hp2 HG00741.hp2 HG01243.hp1 HG01433.hp2 HG01952.hp1 HG02055.hp1 HG02257.hp1 HG02630.hp2 HG02647.hp1 HG03516.hp1 HG03579.hp2 HG03704.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0021 a0001c0001t0023 a0001c0001t0025 a0001c0003t0008 a0002c0002t0024	a0001c0001t0001g0044 a0001c0001t0001g0058 a0001c0001t0003g0076 others(10): Show a0001c0001t0001g0044 a0001c0001t0001g0058 a0001c0001t0003g0076 a0001c0001t0004g0048 a0001c0001t0007g0055 a0001c0001t0008g0063 a0001c0001t0010g0064 a0001c0001t0011g0041 a0001c0001t0021g0060 a0001c0001t0023g0072 a0001c0001t0025g0050 a0001c0003t0008g0069 a0002c0002t0024g0059	13	76	0.1711	24	c.310 others(43): Show c.310-28820_310-28819insATATATATATATATATATATATAT		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18					INFO_REALIGN_3_PRIME	chr7	TogoVar

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