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
ATRNL1_chr10_115088365_115953999	115772593	C C	CTCTGTGT others(11): Show CTCTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0107 a0001c0001t0048g0107	1	128	0.0078	18	c.390 others(39): Show c.3903+45239_3903+45240insCTGTGTGTGTGTGTGTGT		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(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG03834.hp1 HG00639.hp2 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0032 a0001c0001t0001 a0001c0005t0032	a0001c0001t0001g0098 a0001c0005t0032g0005 a0001c0001t0001g0098 a0001c0005t0032g0005	2	128	0.0156	18	c.401 others(37): Show c.4018+8442_4018+8459dupAAAAAAAAAAAAAAAAAA		ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	28/28					INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115868822	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0107 a0001c0001t0048g0107	1	128	0.0078	18	c.401 others(39): Show c.4018+20839_4018+20856dupTTTTTTTTTTTTTTTTTT		ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	28/28					INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115871469	T T	TTATATAT others(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0007 a0001c0005t0007	a0001c0005t0007g0004 a0001c0005t0007g0009 a0001c0005t0007g0004 a0001c0005t0007g0009	2	128	0.0156	18	c.401 others(39): Show c.4018+23479_4018+23480insATATATATATATATATAT		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(11): Show ATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0012 a0002c0012t0012	a0002c0012t0012g0158 a0002c0012t0012g0158	1	220	0.0046	18	c.411 others(37): Show c.411-23145_411-23144insATATATATATATTTTTTT		ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	1/28					INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRN_chr20_3466018_3656118	3519006	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03098.hp2 HG02622.hp1 HG03098.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0011 a0002c0004t0011	a0002c0004t0011g0150 a0002c0004t0011g0152 a0002c0004t0011g0150 a0002c0004t0011g0152	2	220	0.0091	18	c.411 others(37): Show c.411-16233_411-16232insAAAAAAAAAAAAAAAAAA		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(11): Show TATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00323.hp1 others(50): Show HG00099.hp2 HG00140.hp1 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00673.hp1 HG01070.hp1 HG01071.hp1 HG01099.hp2 HG01109.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01517.hp2 HG02015.hp1 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02293.hp2 HG02451.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02622.hp2 HG02698.hp1 HG02717.hp1 HG02738.hp2 HG02809.hp1 HG02895.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG03041.hp1 HG03209.hp1 HG03471.hp2 HG03486.hp2 HG03704.hp2 HG04199.hp2 HG04228.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18957.hp2 NA18959.hp1 NA18994.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19063.hp2 NA19082.hp1 NA19086.hp2 NA19240.hp1	a0001 a0006 a0007 others(1): Show a0001 a0006 a0007 a0008	a0001c0001 a0001c0002 a0006c0010 others(3): Show a0001c0001 a0001c0002 a0006c0010 a0007c0015 a0008c0030 a0008c0031	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0019 a0001c0001t0023 a0001c0001t0027 a0001c0001t0028 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0002t0008 a0001c0002t0017 a0006c0010t0005 a0006c0010t0018 a0007c0015t0004 a0007c0015t0024 a0008c0030t0011 a0008c0031t0036	a0001c0001t0001g0039 a0001c0001t0002g0086 a0001c0001t0002g0102 others(50): Show a0001c0001t0001g0039 a0001c0001t0002g0086 a0001c0001t0002g0102 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0109 a0001c0001t0002g0113 a0001c0001t0005g0015 a0001c0001t0005g0036 a0001c0001t0005g0056 a0001c0001t0005g0064 a0001c0001t0005g0068 a0001c0001t0005g0120 a0001c0001t0005g0121 a0001c0001t0005g0138 a0001c0001t0009g0022 a0001c0001t0009g0047 a0001c0001t0009g0100 a0001c0001t0009g0101 a0001c0001t0009g0103 a0001c0001t0009g0104 a0001c0001t0010g0011 a0001c0001t0012g0115 a0001c0001t0013g0107 a0001c0001t0014g0010 a0001c0001t0019g0129 a0001c0001t0023g0087 a0001c0001t0027g0095 a0001c0001t0028g0017 a0001c0002t0003g0023 a0001c0002t0003g0028 a0001c0002t0003g0034 a0001c0002t0003g0078 a0001c0002t0003g0085 a0001c0002t0003g0089 a0001c0002t0003g0219 a0001c0002t0004g0030 a0001c0002t0004g0055 a0001c0002t0004g0091 a0001c0002t0004g0092 a0001c0002t0004g0124 a0001c0002t0006g0099 a0001c0002t0008g0035 a0001c0002t0008g0081 a0001c0002t0008g0082 a0001c0002t0017g0079 a0006c0010t0005g0127 a0006c0010t0018g0126 a0006c0010t0018g0128 a0007c0015t0004g0026 a0007c0015t0024g0137 a0008c0030t0011g0093 a0008c0031t0036g0139	53	220	0.2409	18	c.346 others(35): Show c.3469+645_3469+646insTATATATATATATAAATA		ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	21/28					INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRN_chr20_3466018_3656118	3611269	A A	AATATTTG others(11): Show AATATTTGCAAACCATATT	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0022 a0001c0001t0009g0022	1	220	0.0046	18	c.380 others(37): Show c.3801+7008_3801+7025dupATATTTGCAAACCATATT		ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	24/28					INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRX_chrX_77499880_77791216	77651217	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0123 a0001c0001t0002g0123	1	218	0.0046	18	c.455 others(35): Show c.4557+879_4557+896dupTTTTTTTTTTTTTTTTTT		ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	15/34						chrX	TogoVar
ATRX_chrX_77499880_77791216	77671167	A A	AAAATATA others(11): Show AAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0036 a0002c0002t0001g0036	1	218	0.0046	18	c.380 others(37): Show c.3809+5058_3809+5059insATATATATATATATATTT		ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	10/34						chrX	TogoVar
ATRX_chrX_77499880_77791216	77790934	G G	GTATATAT others(11): Show GTATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	218	0.0046	18	c.-49 others(29): Show c.-4934_-4933insTATATATATATATATATA		ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding					4719		chrX	TogoVar
ATRX_chrX_77499880_77791216	77790990	C C	CTATAAAT others(11): Show CTATAAATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp1 HG03579.hp1 NA20752.hp1 others(1): Show HG02738.hp1 HG03579.hp1 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0002 a0001c0001t0003 a0002c0002t0002	a0001c0001t0003g0084 a0002c0002t0002g0048 a0002c0002t0002g0065 others(1): Show a0001c0001t0003g0084 a0002c0002t0002g0048 a0002c0002t0002g0065 a0002c0002t0002g0210	4	218	0.0184	18	c.-49 others(29): Show c.-4990_-4989insTATATATATATATTTATA		ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding					4775		chrX	TogoVar
ATR_chr3_142444235_142583733	142496278	C C	CATTATAT others(11): Show CATTATATATATATACATA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0197 a0001c0008t0001g0197	1	322	0.0031	18	c.589 others(33): Show c.5898+82_5898+83insTATGTATATATATATAAT		ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	34/46						chr3	TogoVar
ATR_chr3_142444235_142583733	142528854	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0011 a0001c0006t0001g0011	1	322	0.0031	18	c.394 others(37): Show c.3946-4673_3946-4656dupATATATATATATATATAT		ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	21/46						chr3	TogoVar
ATXN10_chr22_45666834_45850307	45734869	A A	ATATTATT others(11): Show ATATTATTATTATTATTAT	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0113 a0001c0001t0002g0113	1	316	0.0032	18	c.895 others(35): Show c.895-3848_895-3831dupATTATTATTATTATTATT		ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	7/11					INFO_REALIGN_3_PRIME	chr22	TogoVar
ATXN10_chr22_45666834_45850307	45751763	A A	AAAAAAAA others(11): Show AAAAAAAAAAAAAAATAAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01168.hp2 HG00140.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0099 a0001c0001t0002g0105 a0001c0001t0002g0099 a0001c0001t0002g0105	2	316	0.0063	18	c.117 others(39): Show c.1173+11227_1173+11228insAAAAAAAAAAAATAATAA		ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	9/11					INFO_REALIGN_3_PRIME	chr22	TogoVar
ATXN10_chr22_45666834_45850307	45751763	A A	AAAAAAAA others(11): Show AAAAAAAAAAAATAATAAT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0103 a0001c0001t0010g0103	1	316	0.0032	18	c.117 others(39): Show c.1173+11227_1173+11228insAAAAAAAAATAATAATAA		ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	9/11					INFO_REALIGN_3_PRIME	chr22	TogoVar
ATXN10_chr22_45666834_45850307	45751763	A A	AAAAAAAA others(11): Show AAAAAAAAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03831.hp2 NA18998.hp2 HG03239.hp1 HG03831.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0093 a0001c0001t0002g0100 a0001c0001t0002g0104 a0001c0001t0002g0093 a0001c0001t0002g0100 a0001c0001t0002g0104	3	316	0.0095	18	c.117 others(39): Show c.1173+11227_1173+11228insAAAAAATAATAATAATAA		ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	9/11					INFO_REALIGN_3_PRIME	chr22	TogoVar
ATXN10_chr22_45666834_45850307	45751763	A A	AAAAAATA others(11): Show AAAAAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0109 a0001c0001t0002g0109	1	316	0.0032	18	c.117 others(39): Show c.1173+11227_1173+11228insAAATAATAATAATAATAA		ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	9/11					INFO_REALIGN_3_PRIME	chr22	TogoVar
ATXN1_chr6_16294112_16766460	16308322	T T	TCACACAC others(11): Show TCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02132.hp1 NA18944.hp2 HG02132.hp1 NA18944.hp2	a0002 a0002	a0002c0002 a0002c0004 a0002c0002 a0002c0004	a0002c0002t0009 a0002c0004t0001 a0002c0002t0009 a0002c0004t0001	a0002c0002t0009g0094 a0002c0004t0001g0093 a0002c0002t0009g0094 a0002c0004t0001g0093	2	182	0.0110	18	c.191 others(37): Show c.1918-1481_1918-1464dupTGTGTGTGTGTGTGTGTG		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	7/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16316865	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0005 a0008c0012t0005	a0008c0012t0005g0078 a0008c0012t0005g0078	1	182	0.0055	18	c.191 others(37): Show c.1917+9511_1917+9528dupAAAAAAAAAAAAAAAAAA		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	7/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16327684	A A	ATGCTGCT others(11): Show ATGCTGCTGCTGCTGCTGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02055.hp1 HG03139.hp2 HG02055.hp1 HG03139.hp2	a0024 a0024	a0024c0018 a0024c0018	a0024c0018t0001 a0024c0018t0012 a0024c0018t0001 a0024c0018t0012	a0024c0018t0001g0009 a0024c0018t0012g0148 a0024c0018t0001g0009 a0024c0018t0012g0148	2	182	0.0110	18	c.609 others(25): Show c.609_626dupGCAGCAGCAGCAGCAGCA	p.Gln others(13): Show p.Gln203_Gln208dup	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	7/8	1518/10557	626/2448	209/815			chr6	TogoVar
ATXN1_chr6_16294112_16766460	16395270	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp2 NA19030.hp1 HG02615.hp2 NA19030.hp1	a0010 a0022 a0010 a0022	a0010c0010 a0022c0019 a0010c0010 a0022c0019	a0010c0010t0006 a0022c0019t0001 a0010c0010t0006 a0022c0019t0001	a0010c0010t0006g0008 a0022c0019t0001g0025 a0010c0010t0006g0008 a0022c0019t0001g0025	2	182	0.0110	18	c.-16 others(39): Show c.-160-66818_-160-66801dupTTTTTTTTTTTTTTTTTT		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	6/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16440649	A A	AAAAAAAA others(11): Show AAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01361.hp1 HG02257.hp1 others(6): Show HG00642.hp1 HG01361.hp1 HG02257.hp1 HG02258.hp1 HG02723.hp1 HG02809.hp2 HG03098.hp2 HG03225.hp1 HG03453.hp2	a0001 a0002 a0005 others(4): Show a0001 a0002 a0005 a0006 a0007 a0009 a0018	a0001c0029 a0002c0002 a0002c0004 others(5): Show a0001c0029 a0002c0002 a0002c0004 a0005c0006 a0006c0008 a0007c0009 a0009c0025 a0018c0054	a0001c0029t0039 a0002c0002t0003 a0002c0004t0001 others(6): Show a0001c0029t0039 a0002c0002t0003 a0002c0004t0001 a0005c0006t0006 a0005c0006t0009 a0006c0008t0046 a0007c0009t0002 a0009c0025t0033 a0018c0054t0001	a0001c0029t0039g0041 a0002c0002t0003g0061 a0002c0004t0001g0182 others(6): Show a0001c0029t0039g0041 a0002c0002t0003g0061 a0002c0004t0001g0182 a0005c0006t0006g0010 a0005c0006t0009g0163 a0006c0008t0046g0062 a0007c0009t0002g0126 a0009c0025t0033g0165 a0018c0054t0001g0115	9	182	0.0495	18	c.-16 others(39): Show c.-161+45322_-161+45323insCTTTTTTTTTTTTTTTTT		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	6/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16504993	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0009 a0009	a0009c0025 a0009c0025	a0009c0025t0033 a0009c0025t0033	a0009c0025t0033g0165 a0009c0025t0033g0165	1	182	0.0055	18	c.-29 others(39): Show c.-299+17633_-299+17634insAAAAAAAAAAAAAAAAAA		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	5/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16526064	T T	TATATATA others(11): Show TATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01496.hp2 HG01884.hp2 others(9): Show HG00597.hp1 HG01496.hp2 HG01884.hp2 HG02004.hp2 HG02055.hp2 HG02451.hp1 HG02615.hp2 HG02723.hp2 HG02895.hp2 HG03453.hp1 NA18955.hp1 NA19030.hp1	a0001 a0002 a0005 others(8): Show a0001 a0002 a0005 a0006 a0007 a0010 a0012 a0014 a0022 a0037 a0038	a0001c0001 a0002c0002 a0005c0006 others(8): Show a0001c0001 a0002c0002 a0005c0006 a0006c0008 a0007c0009 a0010c0010 a0012c0011 a0014c0017 a0022c0019 a0037c0032 a0038c0033	a0001c0001t0002 a0002c0002t0002 a0005c0006t0003 others(8): Show a0001c0001t0002 a0002c0002t0002 a0005c0006t0003 a0006c0008t0002 a0007c0009t0035 a0010c0010t0006 a0012c0011t0004 a0014c0017t0004 a0022c0019t0001 a0037c0032t0002 a0038c0033t0002	a0001c0001t0002g0129 a0002c0002t0002g0090 a0005c0006t0003g0114 others(9): Show a0001c0001t0002g0129 a0002c0002t0002g0090 a0005c0006t0003g0114 a0006c0008t0002g0013 a0007c0009t0035g0018 a0010c0010t0006g0008 a0012c0011t0004g0144 a0014c0017t0004g0044 a0022c0019t0001g0025 a0022c0019t0001g0127 a0037c0032t0002g0170 a0038c0033t0002g0004	12	182	0.0659	18	c.-36 others(37): Show c.-360-3377_-360-3376insGTGTATATATATATATAT		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	4/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16526064	T T	TATATATA others(11): Show TATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02622.hp2 HG02280.hp1 HG02622.hp2	a0001 a0010 a0001 a0010	a0001c0029 a0010c0010 a0001c0029 a0010c0010	a0001c0029t0048 a0010c0010t0006 a0001c0029t0048 a0010c0010t0006	a0001c0029t0048g0031 a0010c0010t0006g0113 a0001c0029t0048g0031 a0010c0010t0006g0113	2	182	0.0110	18	c.-36 others(37): Show c.-360-3377_-360-3376insGTATATATATATATATAT		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	4/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16584223	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01109.hp1 HG01257.hp2 others(11): Show HG00423.hp2 HG01109.hp1 HG01257.hp2 HG01261.hp1 HG02300.hp1 HG02965.hp2 HG02970.hp1 HG03098.hp2 HG03834.hp2 HG04184.hp1 NA18906.hp1 NA18952.hp1 NA18986.hp2 NA19007.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0006 a0007 a0010 a0014 a0015	a0001c0001 a0002c0002 a0003c0003 others(7): Show a0001c0001 a0002c0002 a0003c0003 a0004c0005 a0004c0041 a0006c0008 a0007c0009 a0010c0010 a0014c0017 a0015c0030	a0001c0001t0001 a0001c0001t0002 a0002c0002t0041 others(9): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0041 a0003c0003t0001 a0003c0003t0002 a0004c0005t0002 a0004c0041t0001 a0006c0008t0010 a0007c0009t0002 a0010c0010t0006 a0014c0017t0025 a0015c0030t0004	a0001c0001t0001g0105 a0001c0001t0002g0020 a0002c0002t0041g0079 others(11): Show a0001c0001t0001g0105 a0001c0001t0002g0020 a0002c0002t0041g0079 a0003c0003t0001g0049 a0003c0003t0001g0130 a0003c0003t0002g0120 a0004c0005t0002g0167 a0004c0041t0001g0156 a0006c0008t0010g0038 a0007c0009t0002g0056 a0007c0009t0002g0126 a0010c0010t0006g0014 a0014c0017t0025g0142 a0015c0030t0004g0032	14	182	0.0769	18	c.-36 others(37): Show c.-361+1539_-361+1556dupATATATATATATATATAT		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	4/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16606867	T T	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0010 a0010	a0010c0010 a0010c0010	a0010c0010t0006 a0010c0010t0006	a0010c0010t0006g0008 a0010c0010t0006g0008	1	182	0.0055	18	c.-48 others(39): Show c.-488-20978_-488-20961dupCACACACACACACACACA		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	3/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16674049	T T	TTATATAT others(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0076 a0001c0001t0002g0076	1	182	0.0055	18	c.-61 others(39): Show c.-614-16149_-614-16148insTATATATATATATATATA		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	2/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16687657	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02896.hp1 NA19060.hp2 HG02896.hp1 NA19060.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0046 a0001c0001 a0006c0046	a0001c0001t0001 a0006c0046t0001 a0001c0001t0001 a0006c0046t0001	a0001c0001t0001g0178 a0006c0046t0001g0012 a0001c0001t0001g0178 a0006c0046t0001g0012	2	182	0.0110	18	c.-61 others(39): Show c.-614-29774_-614-29757dupGTGTGTGTGTGTGTGTGT		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	2/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16730483	G G	GTATATAT others(11): Show GTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0003 a0003	a0003c0051 a0003c0051	a0003c0051t0010 a0003c0051t0010	a0003c0051t0010g0173 a0003c0051t0010g0173	1	182	0.0055	18	c.-61 others(39): Show c.-615+22749_-615+22750insTATATATATATATATATA		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	2/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16730487	G G	GTGTATAT others(11): Show GTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03834.hp2 NA18942.hp2 HG03834.hp2 NA18942.hp2	a0004 a0004	a0004c0031 a0004c0041 a0004c0031 a0004c0041	a0004c0031t0002 a0004c0041t0001 a0004c0031t0002 a0004c0041t0001	a0004c0031t0002g0101 a0004c0041t0001g0156 a0004c0031t0002g0101 a0004c0041t0001g0156	2	182	0.0110	18	c.-61 others(39): Show c.-615+22745_-615+22746insTATATATATATATATACA		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	2/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16747799	G G	GCTAGTGA others(11): Show GCTAGTGAATTCATTCTCC	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp1 HG01168.hp2 HG01169.hp1	a0001 a0015 a0001 a0015	a0001c0001 a0015c0030 a0001c0001 a0015c0030	a0001c0001t0001 a0015c0030t0014 a0001c0001t0001 a0015c0030t0014	a0001c0001t0001g0108 a0015c0030t0014g0102 a0001c0001t0001g0108 a0015c0030t0014g0102	2	182	0.0110	18	c.-61 others(37): Show c.-615+5433_-615+5434insGGAGAATGAATTCACTAG		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	2/7						chr6	TogoVar
ATXN2_chr12_111447214_111604315	111588991	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02129.hp1 NA19007.hp2 HG02129.hp1 NA19007.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0055 a0002c0002t0001g0056	2	298	0.0067	18	c.251 others(35): Show c.251+9775_251+9792dupTTTTTTTTTTTTTTTTTT		ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	1/24						chr12	TogoVar
ATXN2_chr12_111447214_111604315	111592782	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02056.hp1 HG02148.hp2 others(6): Show HG01884.hp2 HG02056.hp1 HG02148.hp2 HG02293.hp1 HG02738.hp2 HG03017.hp1 NA19030.hp1 NA19063.hp2 homoSapiens_chm13v2.hp1	a0001 a0017 a0001 a0017	a0001c0001 a0001c0003 a0017c0024 a0001c0001 a0001c0003 a0017c0024	a0001c0001t0002 a0001c0001t0006 a0001c0003t0003 others(1): Show a0001c0001t0002 a0001c0001t0006 a0001c0003t0003 a0017c0024t0001	a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0277 others(6): Show a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0290 a0001c0001t0002g0292 a0001c0001t0006g0279 a0001c0003t0003g0175 a0017c0024t0001g0120	9	298	0.0302	18	c.251 others(35): Show c.251+5984_251+6001dupTTTTTTTTTTTTTTTTTT		ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	1/24						chr12	TogoVar
ATXN2_chr12_111447214_111604315	111598949	G G	GGCTGCTG others(11): Show GGCTGCTGCTGCTGCTGCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01943.hp2 HG01943.hp2	a0019 a0019	a0019c0027 a0019c0027	a0019c0027t0003 a0019c0027t0003	a0019c0027t0003g0207 a0019c0027t0003g0207	1	298	0.0034	18	c.68_ others(23): Show c.68_85dupAGCAGCAGCAGCAGCAGC	p.Gln others(11): Show p.Gln23_Gln28dup	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	1/25	366/4347	85/3468	29/1155			chr12	TogoVar
ATXN3_chr14_92053552_92111582	92071009	C C	CGCTGCTG others(11): Show CGCTGCTGCTGCTGCTGCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00099.hp1 HG00642.hp2 HG00738.hp2 others(9): Show HG00099.hp1 HG00642.hp2 HG00738.hp2 HG03669.hp2 HG03688.hp1 HG04228.hp1 NA18955.hp1 NA18957.hp2 NA18966.hp2 NA18983.hp1 NA19055.hp1 NA20805.hp2	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0002 a0008c0008t0009 a0008c0008t0066 a0008c0008t0002 a0008c0008t0009 a0008c0008t0066	a0008c0008t0002g0319 a0008c0008t0002g0320 a0008c0008t0002g0323 others(9): Show a0008c0008t0002g0319 a0008c0008t0002g0320 a0008c0008t0002g0323 a0008c0008t0002g0324 a0008c0008t0002g0325 a0008c0008t0002g0326 a0008c0008t0002g0347 a0008c0008t0009g0030 a0008c0008t0009g0067 a0008c0008t0009g0086 a0008c0008t0009g0087 a0008c0008t0066g0068	12	402	0.0299	18	c.916 others(25): Show c.916_917insAGCAGCAGCAGCAGCAGC	p.Gly others(30): Show p.Gly306delinsGluGlnGlnGlnGlnGlnArg	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(11): Show CCTGCTGCTGCTGCTGCTG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02630.hp1 HG03579.hp1 HG02630.hp1 HG03579.hp1	a0027 a0027	a0027c0039 a0027c0039	a0027c0039t0026 a0027c0039t0026	a0027c0039t0026g0128 a0027c0039t0026g0129 a0027c0039t0026g0128 a0027c0039t0026g0129	2	402	0.0050	18	c.898 others(25): Show c.898_915dupCAGCAGCAGCAGCAGCAG	p.Gln others(13): Show p.Gln300_Gln305dup	ATXN3	ENSG00000066427.25	transcript	ENST00000644486.2	protein_coding	10/11	945/6884	915/1086	305/361			chr14	TogoVar
ATXN7L1_chr7_105599772_105881599	105727742	G G	GTGTATAT others(11): Show GTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp1 NA19240.hp2 HG01884.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0055 a0001c0001t0021 a0001c0001t0055	a0001c0001t0021g0130 a0001c0001t0055g0252 a0001c0001t0021g0130 a0001c0001t0055g0252	2	252	0.0079	18	c.355 others(37): Show c.355+60861_355+60862insTATATATATATATATACA		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105727746	G G	GTGTATAT others(11): Show GTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00741.hp1 HG01884.hp2 others(5): Show HG00738.hp2 HG00741.hp1 HG01884.hp2 HG02647.hp2 HG03098.hp2 HG03516.hp2 NA18906.hp2 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0010 others(4): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0010 a0001c0001t0016 a0001c0001t0040 a0001c0001t0052 a0001c0001t0053	a0001c0001t0001g0005 a0001c0001t0001g0201 a0001c0001t0006g0168 others(5): Show a0001c0001t0001g0005 a0001c0001t0001g0201 a0001c0001t0006g0168 a0001c0001t0010g0111 a0001c0001t0016g0136 a0001c0001t0040g0207 a0001c0001t0052g0133 a0001c0001t0053g0031	8	252	0.0318	18	c.355 others(37): Show c.355+60857_355+60858insTATATATATATATATACA		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105727746	G G	GTGTGTAT others(11): Show GTGTGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0193 a0001c0001t0015g0193	1	252	0.0040	18	c.355 others(37): Show c.355+60857_355+60858insTATATATATATATACACA		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105727777	T T	TATATATA others(11): Show TATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01515.hp2 HG01517.hp2 others(1): Show HG01192.hp1 HG01515.hp2 HG01517.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0020 a0001c0001t0050 a0001c0001t0015 a0001c0001t0020 a0001c0001t0050	a0001c0001t0015g0125 a0001c0001t0015g0140 a0001c0001t0020g0120 others(1): Show a0001c0001t0015g0125 a0001c0001t0015g0140 a0001c0001t0020g0120 a0001c0001t0050g0155	4	252	0.0159	18	c.355 others(37): Show c.355+60826_355+60827insGTGTATATATATATATAT		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105727777	T T	TATATATA others(11): Show TATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG03688.hp2 NA18945.hp1 others(1): Show HG01169.hp2 HG03688.hp2 NA18945.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009	a0001c0001t0001g0017 a0001c0001t0002g0186 a0001c0001t0003g0118 others(1): Show a0001c0001t0001g0017 a0001c0001t0002g0186 a0001c0001t0003g0118 a0001c0001t0009g0054	4	252	0.0159	18	c.355 others(37): Show c.355+60826_355+60827insGTATATATATATATATAT		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105771201	G G	GATAATAA others(11): Show GATAATAATAATAATAATA	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0056 a0001c0001t0002g0056	1	252	0.0040	18	c.355 others(37): Show c.355+17385_355+17402dupTATTATTATTATTATTAT		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11						chr7	TogoVar
ATXN7L3B_chr12_74532835_74550430	74536670	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp2 HG03654.hp1 HG03688.hp2 others(3): Show HG01106.hp2 HG03654.hp1 HG03688.hp2 NA18974.hp1 NA19010.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0027 a0001c0001t0062 a0001c0001t0001 a0001c0001t0027 a0001c0001t0062	a0001c0001t0001g0000 a0001c0001t0027g0000 a0001c0001t0062g0000 a0001c0001t0001g0000 a0001c0001t0027g0000 a0001c0001t0062g0000	6	408	0.0147	18	c.-14 others(29): Show c.-1443_-1442insTTTTTTTTTTTTTTTTTT		ATXN7L3B	ENSG00000253719.4	transcript	ENST00000519948.4	protein_coding					1164		chr12	TogoVar
ATXN7_chr3_63858867_64008462	63952835	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0058 a0002c0002t0058	a0002c0002t0058g0032 a0002c0002t0058g0032	1	300	0.0033	18	c.499 others(33): Show c.499+366_499+383dupTTTTTTTTTTTTTTTTTT		ATXN7	ENSG00000163635.20	transcript	ENST00000674280.1	protein_coding	5/12					INFO_REALIGN_3_PRIME	chr3	TogoVar
ATXN7_chr3_63858867_64008462	63959800	T T	TTTTATGA others(11): Show TTTTATGAATGTCTGTGCC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0067 a0009c0009t0067	a0009c0009t0067g0155 a0009c0009t0067g0155	1	300	0.0033	18	c.499 others(35): Show c.499+7321_499+7338dupATGAATGTCTGTGCCTTT		ATXN7	ENSG00000163635.20	transcript	ENST00000674280.1	protein_coding	5/12					INFO_REALIGN_3_PRIME	chr3	TogoVar
AURKB_chr17_8199734_8215575	8214607	T T	TATATACA others(11): Show TATATACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	428	0.0023	18	c.-41 others(29): Show c.-4104_-4103insGTGTGTGTGTGTGTATAT		AURKB	ENSG00000178999.13	transcript	ENST00000585124.6	protein_coding					4033		chr17	TogoVar
AURKB_chr17_8199734_8215575	8214607	T T	TATATATA others(11): Show TATATATATACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp1 HG03704.hp1 HG03704.hp2 others(3): Show HG02135.hp1 HG03704.hp1 HG03704.hp2 NA18952.hp1 NA19057.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0028 a0001c0001t0001g0008 a0001c0001t0001g0028	6	428	0.0140	18	c.-41 others(29): Show c.-4104_-4103insGTGTGTGTGTATATATAT		AURKB	ENSG00000178999.13	transcript	ENST00000585124.6	protein_coding					4033		chr17	TogoVar

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