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
ATXN1_chr6_16294112_16766460	16606867	T T	TTGTGTGT others(13): Show TTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02257.hp1 HG02451.hp1 HG02155.hp2 HG02257.hp1 HG02451.hp1	a0001 a0005 a0022 a0001 a0005 a0022	a0001c0001 a0005c0006 a0022c0019 a0001c0001 a0005c0006 a0022c0019	a0001c0001t0001 a0005c0006t0009 a0022c0019t0001 a0001c0001t0001 a0005c0006t0009 a0022c0019t0001	a0001c0001t0001g0123 a0005c0006t0009g0163 a0022c0019t0001g0127 a0001c0001t0001g0123 a0005c0006t0009g0163 a0022c0019t0001g0127	3	182	0.0165	20	c.-48 others(41): Show c.-488-20980_-488-20961dupCACACACACACACACACACA		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	3/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16730483	G G	GTATATAT others(13): Show GTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0011 a0011	a0011c0007 a0011c0007	a0011c0007t0002 a0011c0007t0002	a0011c0007t0002g0040 a0011c0007t0002g0040	1	182	0.0055	20	c.-61 others(41): Show c.-615+22749_-615+22750insTATATATATATATATATATA		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	2/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16730487	G G	GTGTATAT others(13): Show GTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0004 a0004	a0004c0023 a0004c0023	a0004c0023t0002 a0004c0023t0002	a0004c0023t0002g0035 a0004c0023t0002g0035	1	182	0.0055	20	c.-61 others(41): Show c.-615+22745_-615+22746insTATATATATATATATATACA		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	2/7						chr6	TogoVar
ATXN2_chr12_111447214_111604315	111576137	T T	TAACATAA others(13): Show TAACATAACATAACATCACAC	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01123.hp1 HG01256.hp1 others(41): Show HG01071.hp1 HG01123.hp1 HG01256.hp1 HG01258.hp1 HG01928.hp1 HG01952.hp1 HG02027.hp1 HG02129.hp1 HG02132.hp2 HG02148.hp1 HG02155.hp1 HG03017.hp2 HG04204.hp2 NA18941.hp1 NA18943.hp2 NA18945.hp2 NA18946.hp1 NA18951.hp2 NA18955.hp2 NA18959.hp1 NA18964.hp2 NA18968.hp1 NA18971.hp1 NA18974.hp2 NA18980.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp2 NA18985.hp2 NA18986.hp1 NA18989.hp1 NA18991.hp1 NA19004.hp2 NA19009.hp2 NA19011.hp1 NA19012.hp1 NA19057.hp2 NA19063.hp1 NA19067.hp1 NA19074.hp1 NA19079.hp1 NA19080.hp2 NA19082.hp2 NA19085.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0003 a0002c0002t0001 a0002c0002t0003	a0002c0002t0001g0006 a0002c0002t0001g0010 a0002c0002t0001g0011 others(41): Show a0002c0002t0001g0006 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0029 a0002c0002t0001g0031 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0041 a0002c0002t0001g0042 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0051 a0002c0002t0001g0053 a0002c0002t0001g0056 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0070 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0082 a0002c0002t0003g0033 a0002c0002t0003g0034	44	298	0.1477	20	c.252 others(39): Show c.252-20219_252-20218insGTGTGATGTTATGTTATGTT		ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	1/24						chr12	TogoVar
ATXN2_chr12_111447214_111604315	111588991	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18968.hp1 NA18994.hp2 others(2): Show NA18946.hp1 NA18968.hp1 NA18994.hp2 NA19074.hp1 NA19082.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0015 a0002c0002t0001g0020 a0002c0002t0001g0021 others(2): Show a0002c0002t0001g0015 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0030 a0002c0002t0001g0041	5	298	0.0168	20	c.251 others(37): Show c.251+9773_251+9792dupTTTTTTTTTTTTTTTTTTTT		ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	1/24						chr12	TogoVar
ATXN2_chr12_111447214_111604315	111592782	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0288 a0001c0001t0002g0288	1	298	0.0034	20	c.251 others(37): Show c.251+5982_251+6001dupTTTTTTTTTTTTTTTTTTTT		ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	1/24						chr12	TogoVar
ATXN3_chr14_92053552_92111582	92071010	C C	CTGCTGCT others(13): Show CTGCTGCTGCTGCTGCTGCTG	frameshift_variant frameshift_variant	HIGH	NA20905.hp1 NA20905.hp1	a0050 a0050	a0050c0056 a0050c0056	a0050c0056t0011 a0050c0056t0011	a0050c0056t0011g0317 a0050c0056t0011g0317	1	402	0.0025	20	c.915 others(27): Show c.915_916insCAGCAGCAGCAGCAGCAGCA	p.Gly others(5): Show p.Gly306fs	ATXN3	ENSG00000066427.25	transcript	ENST00000644486.2	protein_coding	10/11	945/6884	915/1086	305/361			chr14	TogoVar
ATXN7L1_chr7_105599772_105881599	105619140	G G	GTTTTTTT others(13): Show GTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0064 a0001c0001t0064	a0001c0001t0064g0098 a0001c0001t0064g0098	1	252	0.0040	20	c.151 others(39): Show c.1517+1040_1517+1059dupAAAAAAAAAAAAAAAAAAAA		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	9/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105662027	T T	TTTCCTTC others(13): Show TTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	252	0.0040	20	c.578 others(37): Show c.578+3019_578+3038dupGGAAGGAAGGAAGGAAGGAA		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	4/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105692403	T T	TTCCTTCC others(13): Show TTCCTTCCTTCCTTCCCTCCC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0227 a0001c0001t0021g0227	1	252	0.0040	20	c.356 others(39): Show c.356-27116_356-27115insGGGAGGGAAGGAAGGAAGGA		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105692407	T T	TTCCTTCC others(13): Show TTCCTTCCTTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01099.hp1 HG01346.hp1 others(16): Show HG00735.hp2 HG01099.hp1 HG01346.hp1 HG01433.hp2 HG01496.hp2 HG01952.hp1 HG01978.hp2 HG02135.hp2 HG02148.hp1 HG02165.hp1 HG03669.hp2 HG03831.hp2 HG04199.hp1 NA18943.hp1 NA18970.hp2 NA18971.hp1 NA18989.hp1 NA18995.hp1 NA19066.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0011 a0001c0001 a0005c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0049 a0001c0001t0064 a0005c0011t0008	a0001c0001t0001g0033 a0001c0001t0001g0088 a0001c0001t0001g0102 others(16): Show a0001c0001t0001g0033 a0001c0001t0001g0088 a0001c0001t0001g0102 a0001c0001t0002g0010 a0001c0001t0002g0016 a0001c0001t0002g0231 a0001c0001t0002g0245 a0001c0001t0003g0011 a0001c0001t0009g0054 a0001c0001t0009g0097 a0001c0001t0010g0032 a0001c0001t0010g0093 a0001c0001t0012g0052 a0001c0001t0013g0129 a0001c0001t0014g0038 a0001c0001t0016g0061 a0001c0001t0049g0148 a0001c0001t0064g0098 a0005c0011t0008g0092	19	252	0.0754	20	c.356 others(39): Show c.356-27120_356-27119insGGGAGGGAGGGAAGGAAGGA		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105727746	G G	GTGTATAT others(13): Show GTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19091.hp2 NA19000.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0062 a0001c0001t0011 a0001c0001t0062	a0001c0001t0011g0143 a0001c0001t0062g0007 a0001c0001t0011g0143 a0001c0001t0062g0007	2	252	0.0079	20	c.355 others(39): Show c.355+60857_355+60858insTATATATATATATATATACA		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105727777	T T	TATATATA others(13): Show TATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG03831.hp2 NA18957.hp2 HG03831.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0001 a0001c0001t0014	a0001c0001t0001g0074 a0001c0001t0014g0038 a0001c0001t0001g0074 a0001c0001t0014g0038	2	252	0.0079	20	c.355 others(39): Show c.355+60826_355+60827insGTGTATATATATATATATAT		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105731748	A A	AAAAAGAA others(13): Show AAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01256.hp1 HG02135.hp2 others(11): Show HG00735.hp2 HG01256.hp1 HG02135.hp2 HG02559.hp2 HG02622.hp2 HG02895.hp2 HG03225.hp2 HG03669.hp2 HG03688.hp2 HG04199.hp2 NA18943.hp1 NA18945.hp2 NA19043.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0021 a0001c0001t0056 a0001c0001t0064 a0001c0012t0003	a0001c0001t0001g0017 a0001c0001t0003g0011 a0001c0001t0006g0024 others(11): Show a0001c0001t0001g0017 a0001c0001t0003g0011 a0001c0001t0006g0024 a0001c0001t0006g0116 a0001c0001t0006g0197 a0001c0001t0011g0101 a0001c0001t0012g0052 a0001c0001t0013g0129 a0001c0001t0013g0156 a0001c0001t0015g0109 a0001c0001t0021g0227 a0001c0001t0056g0210 a0001c0001t0064g0098 a0001c0012t0003g0047	14	252	0.0556	20	c.355 others(39): Show c.355+56836_355+56855dupCTTTTCTTTTCTTTTCTTTT		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105733513	T T	TCCATCCA others(13): Show TCCATCCATTCATCCATCCAC	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0031 a0006c0010t0031	a0006c0010t0031g0204 a0006c0010t0031g0204	1	252	0.0040	20	c.355 others(39): Show c.355+55090_355+55091insGTGGATGGATGAATGGATGG		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105790674	A A	ACTATCTA others(13): Show ACTATCTATCTATCTATCTAT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02572.hp1 HG02630.hp2 others(3): Show HG01074.hp1 HG02572.hp1 HG02630.hp2 HG02647.hp2 HG02738.hp1 HG03041.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0009 a0001c0001 a0007c0009	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(3): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0001t0017 a0001c0001t0034 a0007c0009t0007	a0001c0001t0001g0201 a0001c0001t0006g0022 a0001c0001t0007g0218 others(3): Show a0001c0001t0001g0201 a0001c0001t0006g0022 a0001c0001t0007g0218 a0001c0001t0017g0194 a0001c0001t0034g0068 a0007c0009t0007g0096	6	252	0.0238	20	c.251 others(37): Show c.251-1986_251-1967dupATAGATAGATAGATAGATAG		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	2/11						chr7	TogoVar
AURKB_chr17_8199734_8215575	8214583	T T	TATATATA others(13): Show TATATATATATATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0041 a0001c0003t0001g0041	1	428	0.0023	20	c.-40 others(31): Show c.-4080_-4079insGTATATATATATATATATAT		AURKB	ENSG00000178999.13	transcript	ENST00000585124.6	protein_coding					4009		chr17	TogoVar
AURKB_chr17_8199734_8215575	8214607	T T	TATATATA others(13): Show TATATATATACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG00733.hp2 HG03831.hp2 HG00639.hp1 HG00733.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0003 a0001c0001t0001g0008	3	428	0.0070	20	c.-41 others(31): Show c.-4104_-4103insGTGTGTGTGTGTATATATAT		AURKB	ENSG00000178999.13	transcript	ENST00000585124.6	protein_coding					4033		chr17	TogoVar
AURKB_chr17_8199734_8215575	8214607	T T	TATATATA others(13): Show TATATATATATACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp1 HG03654.hp1 HG01496.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	2	428	0.0047	20	c.-41 others(31): Show c.-4104_-4103insGTGTGTGTGTATATATATAT		AURKB	ENSG00000178999.13	transcript	ENST00000585124.6	protein_coding					4033		chr17	TogoVar
AURKC_chr19_57226023_57240548	57239587	T T	TAGAGAGA others(13): Show TAGAGAGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00438.hp1 others(69): Show HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01167.hp2 HG01169.hp1 HG01361.hp2 HG01516.hp1 HG01517.hp1 HG01928.hp1 HG01934.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp2 HG01981.hp1 HG01993.hp2 HG02027.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp2 HG02074.hp2 HG02083.hp1 HG02129.hp2 HG02155.hp1 HG02155.hp2 HG02300.hp1 HG02698.hp2 HG02717.hp2 HG02735.hp2 HG02886.hp2 HG02965.hp1 HG03490.hp2 HG03669.hp2 HG03688.hp1 HG06807.hp1 NA18612.hp1 NA18939.hp2 NA18941.hp2 NA18942.hp1 NA18949.hp2 NA18951.hp1 NA18955.hp1 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18961.hp1 NA18967.hp2 NA18970.hp1 NA18973.hp2 NA18985.hp1 NA18995.hp1 NA18998.hp2 NA19002.hp1 NA19003.hp2 NA19054.hp2 NA19056.hp1 NA19057.hp1 NA19058.hp1 NA19062.hp2 NA19063.hp1 NA19064.hp1 NA19079.hp2 NA19080.hp1 NA19082.hp1 NA19091.hp1 NA20905.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0025 others(6): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0002g0001 a0001c0001t0002g0013 a0001c0001t0009g0001 a0001c0005t0001g0024 a0001c0005t0001g0043	72	410	0.1756	20	c.41 others(31): Show c.4170_*4171insAGAGAGAGAGAGAGAGAGAG		AURKC	ENSG00000105146.14	transcript	ENST00000302804.12	protein_coding					4040		chr19	TogoVar
AUTS2_chr7_69593475_70798506	69598313	G G	GCGAGCGA others(13): Show GCGAGCGAGCGAAAGCACGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	76	0.0132	20	c.-13 others(31): Show c.-1341_-1340insCGAGCGAGCGAAAGCACGAA		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding					161		chr7	TogoVar
AUTS2_chr7_69593475_70798506	69614314	C C	CTCTTTCT others(13): Show CTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	76	0.0132	20	c.309 others(39): Show c.309+14386_309+14405dupCTTTCTTTCTTTCTTTCTTT		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(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG03225.hp1 HG01175.hp2 HG03225.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0029 a0002c0002t0036 a0001c0001t0029 a0002c0002t0036	a0001c0001t0029g0022 a0002c0002t0036g0017 a0001c0001t0029g0022 a0002c0002t0036g0017	2	76	0.0263	20	c.310 others(39): Show c.310-28839_310-28838insTATATATATATATATATATA		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18						chr7	TogoVar
AUTS2_chr7_69593475_70798506	69870448	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02630.hp1 NA19240.hp1 HG02258.hp2 HG02630.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0020 a0001c0001t0001 a0001c0001t0002 a0001c0001t0020	a0001c0001t0001g0074 a0001c0001t0002g0062 a0001c0001t0020g0029 a0001c0001t0001g0074 a0001c0001t0002g0062 a0001c0001t0020g0029	3	76	0.0395	20	c.310 others(39): Show c.310-28820_310-28819insATATATATATATATATATAT		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	69872834	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0031 a0002c0002t0031	a0002c0002t0031g0007 a0002c0002t0031g0007	1	76	0.0132	20	c.310 others(39): Show c.310-26445_310-26426dupTTTTTTTTTTTTTTTTTTTT		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	69888540	G G	GATATATA others(13): Show GATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG03139.hp2 HG01175.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0029 a0001c0001t0005 a0001c0001t0029	a0001c0001t0005g0012 a0001c0001t0029g0022 a0001c0001t0005g0012 a0001c0001t0029g0022	2	76	0.0263	20	c.310 others(39): Show c.310-10733_310-10714dupATATATATATATATATATAT		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70011314	T T	TCTCTCCT others(13): Show TCTCTCCTCTCCTCTCCTCTC	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0003 a0001c0001t0018g0003	1	76	0.0132	20	c.523 others(41): Show c.523-106786_523-106767dupTCTCCTCTCCTCTCCTCTCC		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	2/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70156891	T T	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0049 a0001c0001t0002g0049	1	76	0.0132	20	c.660 others(39): Show c.660+22337_660+22356dupAAAAAAAAAAAAAAAAAAAA		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	4/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70245169	T T	TATATATA others(13): Show TATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03579.hp2 HG02258.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0074 a0001c0001t0003g0076 a0001c0001t0001g0074 a0001c0001t0003g0076	2	76	0.0263	20	c.660 others(41): Show c.660+110599_660+110600insTATATATATATATATATAAA		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	4/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AVEN_chr15_33861227_34044204	33899460	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG01070.hp1 HG00099.hp2 HG00323.hp2 HG01070.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0003 a0001c0001t0001 a0003c0003t0003	a0001c0001t0001g0035 a0001c0001t0001g0067 a0003c0003t0003g0007 a0001c0001t0001g0035 a0001c0001t0001g0067 a0003c0003t0003g0007	3	266	0.0113	20	c.446 others(39): Show c.446-23485_446-23466dupAAAAAAAAAAAAAAAAAAAA		AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5						chr15	TogoVar
AVEN_chr15_33861227_34044204	33933491	T T	TCACACAC others(13): Show TCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02809.hp2 HG02622.hp2 HG02809.hp2	a0002 a0007 a0002 a0007	a0002c0002 a0007c0005 a0002c0002 a0007c0005	a0002c0002t0001 a0007c0005t0007 a0002c0002t0001 a0007c0005t0007	a0002c0002t0001g0161 a0007c0005t0007g0266 a0002c0002t0001g0161 a0007c0005t0007g0266	2	266	0.0075	20	c.446 others(39): Show c.446-57516_446-57497dupTGTGTGTGTGTGTGTGTGTG		AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5						chr15	TogoVar
AVEN_chr15_33861227_34044204	33933524	C C	CACACACA others(13): Show CACACACACACACACACACAG	intron_variant intron_variant	MODIFIER	HG02559.hp2 NA19081.hp2 HG02559.hp2 NA19081.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0002c0002t0001 a0001c0001t0004 a0002c0002t0001	a0001c0001t0004g0207 a0002c0002t0001g0163 a0001c0001t0004g0207 a0002c0002t0001g0163	2	266	0.0075	20	c.446 others(39): Show c.446-57530_446-57529insCTGTGTGTGTGTGTGTGTGT		AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5						chr15	TogoVar
AVEN_chr15_33861227_34044204	33933524	C C	CACACACA others(13): Show CACACACACACACACACAGAG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG04204.hp1 HG00741.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0001 a0001c0012t0001 a0001c0001t0001 a0001c0012t0001	a0001c0001t0001g0230 a0001c0012t0001g0164 a0001c0001t0001g0230 a0001c0012t0001g0164	2	266	0.0075	20	c.446 others(39): Show c.446-57530_446-57529insCTCTGTGTGTGTGTGTGTGT		AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5						chr15	TogoVar
AVEN_chr15_33861227_34044204	33933524	C C	CACACACA others(13): Show CACACACACACACAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	266	0.0038	20	c.446 others(39): Show c.446-57530_446-57529insCTCTCTCTGTGTGTGTGTGT		AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5						chr15	TogoVar
AVEN_chr15_33861227_34044204	33933524	C C	CACACACA others(13): Show CACACACACACAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	266	0.0038	20	c.446 others(39): Show c.446-57530_446-57529insCTCTCTCTCTGTGTGTGTGT		AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5						chr15	TogoVar
AVL9_chr7_32490489_32593726	32503319	G G	GATATATA others(13): Show GATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0109 a0001c0004t0109	a0001c0004t0109g0161 a0001c0004t0109g0161	1	330	0.0030	20	c.93+ others(35): Show c.93+7531_93+7532insATATATATATATATATATAT		AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr7	TogoVar
AVL9_chr7_32490489_32593726	32503367	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01243.hp2 HG01346.hp2 others(6): Show HG00733.hp2 HG01243.hp2 HG01346.hp2 HG01978.hp2 HG02897.hp1 NA18989.hp1 NA18992.hp1 NA19064.hp1 NA19089.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 others(5): Show a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0047 a0001c0001t0098 a0001c0001t0104 a0003c0005t0063	a0001c0001t0009g0252 a0001c0001t0010g0268 a0001c0001t0010g0289 others(6): Show a0001c0001t0009g0252 a0001c0001t0010g0268 a0001c0001t0010g0289 a0001c0001t0013g0263 a0001c0001t0014g0253 a0001c0001t0047g0273 a0001c0001t0098g0254 a0001c0001t0104g0251 a0003c0005t0063g0318	9	330	0.0273	20	c.93+ others(35): Show c.93+7566_93+7567insCACACACACACACACACACA		AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr7	TogoVar
AVL9_chr7_32490489_32593726	32548144	C C	CTCTTTTT others(13): Show CTCTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0117 a0001c0008t0117	a0001c0008t0117g0052 a0001c0008t0117g0052	1	330	0.0030	20	c.301 others(35): Show c.301-702_301-701insCTTTTTTTTTTTTTTTTTTT		AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	3/15					INFO_REALIGN_3_PRIME	chr7	TogoVar
AVL9_chr7_32490489_32593726	32548151	C C	CTTTTGTT others(13): Show CTTTTGTTTTCTTTTTGTTTT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01106.hp2 HG01192.hp1 others(19): Show HG00733.hp1 HG01106.hp2 HG01192.hp1 HG01258.hp2 HG01433.hp1 HG01517.hp2 HG02145.hp1 HG02258.hp2 HG02451.hp2 HG02486.hp1 HG02622.hp1 HG02723.hp1 HG02723.hp2 HG02896.hp2 HG03098.hp1 HG03209.hp1 HG03453.hp2 HG03516.hp2 HG03540.hp1 HG03831.hp1 HG06807.hp2 NA19240.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0007 a0003c0005 a0001c0001 a0001c0007 a0003c0005	a0001c0001t0024 a0001c0001t0028 a0001c0001t0036 others(9): Show a0001c0001t0024 a0001c0001t0028 a0001c0001t0036 a0001c0001t0058 a0001c0001t0078 a0001c0001t0135 a0001c0001t0136 a0001c0001t0137 a0001c0001t0138 a0001c0001t0141 a0001c0007t0016 a0003c0005t0064	a0001c0001t0024g0284 a0001c0001t0024g0287 a0001c0001t0024g0288 others(19): Show a0001c0001t0024g0284 a0001c0001t0024g0287 a0001c0001t0024g0288 a0001c0001t0028g0111 a0001c0001t0028g0242 a0001c0001t0028g0267 a0001c0001t0036g0285 a0001c0001t0036g0286 a0001c0001t0058g0298 a0001c0001t0058g0300 a0001c0001t0078g0241 a0001c0001t0135g0297 a0001c0001t0136g0299 a0001c0001t0137g0301 a0001c0001t0138g0296 a0001c0001t0141g0302 a0001c0007t0016g0055 a0001c0007t0016g0056 a0001c0007t0016g0306 a0001c0007t0016g0307 a0001c0007t0016g0308 a0003c0005t0064g0323	22	330	0.0667	20	c.301 others(35): Show c.301-692_301-691insGTTTTCTTTTTGTTTTTTTT		AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	3/15					INFO_REALIGN_3_PRIME	chr7	TogoVar
AVL9_chr7_32490489_32593726	32556519	A A	AAATAAAT others(13): Show AAATAAATGAATGAATGAATG	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG02071.hp1 HG02132.hp1 others(6): Show HG01070.hp2 HG02071.hp1 HG02132.hp1 NA18940.hp2 NA18959.hp1 NA18959.hp2 NA18983.hp1 NA18993.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0048 a0001c0001t0051 a0001c0001t0061 a0001c0001t0133	a0001c0001t0001g0182 a0001c0001t0004g0025 a0001c0001t0004g0028 others(6): Show a0001c0001t0001g0182 a0001c0001t0004g0025 a0001c0001t0004g0028 a0001c0001t0007g0024 a0001c0001t0007g0227 a0001c0001t0048g0022 a0001c0001t0051g0017 a0001c0001t0061g0029 a0001c0001t0133g0050	9	330	0.0273	20	c.609 others(37): Show c.609+1926_609+1927insAAATGAATGAATGAATGAAT		AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	8/15					INFO_REALIGN_3_PRIME	chr7	TogoVar
AVL9_chr7_32490489_32593726	32566180	A A	ATCTTTTT others(13): Show ATCTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03225.hp2 NA19030.hp1 others(3): Show HG03098.hp1 HG03225.hp2 NA19030.hp1 NA19057.hp1 NA19063.hp2 NA19078.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0003 a0001c0001 a0001c0004 a0002c0003	a0001c0001t0003 a0001c0001t0004 a0001c0001t0136 others(3): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0136 a0001c0004t0042 a0002c0003t0032 a0002c0003t0116	a0001c0001t0003g0021 a0001c0001t0004g0230 a0001c0001t0136g0299 others(3): Show a0001c0001t0003g0021 a0001c0001t0004g0230 a0001c0001t0136g0299 a0001c0004t0042g0155 a0002c0003t0032g0118 a0002c0003t0116g0166	6	330	0.0182	20	c.121 others(39): Show c.1216-3839_1216-3838insCTTTTTTTTTTTTTTTTTTT		AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	10/15					INFO_REALIGN_3_PRIME	chr7	TogoVar
AVL9_chr7_32490489_32593726	32579574	T T	TATTATAT others(13): Show TATTATATATTATATATTATA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG03139.hp2 HG02895.hp2 HG02897.hp2 HG03139.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0075 a0001c0002t0076 a0001c0002t0077 a0001c0002t0075 a0001c0002t0076 a0001c0002t0077	a0001c0002t0075g0091 a0001c0002t0076g0089 a0001c0002t0077g0090 a0001c0002t0075g0091 a0001c0002t0076g0089 a0001c0002t0077g0090	3	330	0.0091	20	c.168 others(37): Show c.1689-645_1689-644insATTATATATTATATATTATA		AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	13/15						chr7	TogoVar
AVPI1_chr10_97672424_97692241	97678874	G G	GGTGTGTG others(13): Show GGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0276 a0002c0002t0001g0276	1	446	0.0022	20	c.287 others(35): Show c.287+744_287+745insACACACACACACACACACAC		AVPI1	ENSG00000119986.7	transcript	ENST00000370626.4	protein_coding	2/2						chr10	TogoVar
AVPI1_chr10_97672424_97692241	97678880	G G	GGTGTGTG others(13): Show GGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01255.hp1 HG02280.hp1 others(7): Show HG00558.hp1 HG01255.hp1 HG02280.hp1 HG03516.hp1 HG04204.hp1 NA18944.hp2 NA18981.hp1 NA19056.hp1 NA19082.hp2 NA19090.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0002c0002 a0004c0005 others(1): Show a0001c0001 a0002c0002 a0004c0005 a0005c0006	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 a0004c0005t0001 a0005c0006t0001	a0001c0001t0001g0221 a0001c0001t0002g0067 a0002c0002t0001g0292 others(6): Show a0001c0001t0001g0221 a0001c0001t0002g0067 a0002c0002t0001g0292 a0002c0002t0001g0302 a0002c0002t0002g0022 a0002c0002t0002g0048 a0002c0002t0002g0052 a0004c0005t0001g0248 a0005c0006t0001g0198	10	446	0.0224	20	c.287 others(35): Show c.287+719_287+738dupACACACACACACACACACAC		AVPI1	ENSG00000119986.7	transcript	ENST00000370626.4	protein_coding	2/2						chr10	TogoVar
AVPR1A_chr12_63137759_63156201	63138059	C C	CTCCCTCC others(13): Show CTCCCTCCCTCCCTCCTTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0009 a0002c0003t0009	a0002c0003t0009g0022 a0002c0003t0009g0022	1	448	0.0022	20	c.92 others(31): Show c.9299_*9300insAGGAAGGAGGGAGGGAGGGA		AVPR1A	ENSG00000166148.4	transcript	ENST00000299178.4	protein_coding					4699		chr12	TogoVar
AVPR1A_chr12_63137759_63156201	63153330	C C	CTATCTAT others(13): Show CTATCTATCTATCTATCTATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00558.hp1 HG00609.hp2 others(35): Show HG00408.hp1 HG00558.hp1 HG00609.hp2 HG02027.hp2 HG02135.hp1 HG02738.hp1 HG03490.hp1 HG03669.hp1 HG03710.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 NA18942.hp2 NA18946.hp1 NA18948.hp1 NA18951.hp1 NA18964.hp1 NA18966.hp2 NA18972.hp1 NA18973.hp2 NA18978.hp2 NA18983.hp1 NA18985.hp2 NA18988.hp1 NA18994.hp1 NA19003.hp1 NA19006.hp1 NA19011.hp2 NA19055.hp2 NA19059.hp1 NA19065.hp2 NA19078.hp1 NA19080.hp2 NA19083.hp1 NA19084.hp1 NA19090.hp2 NA19091.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0056 a0001c0001t0004 a0001c0001t0006 a0001c0001t0056	a0001c0001t0004g0005 a0001c0001t0004g0035 a0001c0001t0004g0036 others(11): Show a0001c0001t0004g0005 a0001c0001t0004g0035 a0001c0001t0004g0036 a0001c0001t0004g0037 a0001c0001t0004g0062 a0001c0001t0004g0134 a0001c0001t0004g0136 a0001c0001t0004g0137 a0001c0001t0004g0139 a0001c0001t0006g0008 a0001c0001t0006g0061 a0001c0001t0006g0135 a0001c0001t0006g0140 a0001c0001t0056g0138	38	448	0.0848	20	c.-24 others(31): Show c.-2495_-2494insAATAGATAGATAGATAGATA		AVPR1A	ENSG00000166148.4	transcript	ENST00000299178.4	protein_coding					2130		chr12	TogoVar
AVPR1A_chr12_63137759_63156201	63153334	C C	CTATCTAT others(13): Show CTATCTATCTATCTATCTATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG01243.hp2 HG01433.hp2 others(5): Show HG00741.hp1 HG01243.hp2 HG01433.hp2 HG02145.hp2 HG02280.hp1 HG02717.hp1 HG03540.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0010 a0001c0001t0031 others(2): Show a0001c0001t0005 a0001c0001t0010 a0001c0001t0031 a0001c0001t0051 a0001c0001t0053	a0001c0001t0005g0052 a0001c0001t0005g0110 a0001c0001t0010g0014 others(3): Show a0001c0001t0005g0052 a0001c0001t0005g0110 a0001c0001t0010g0014 a0001c0001t0031g0058 a0001c0001t0051g0075 a0001c0001t0053g0112	8	448	0.0179	20	c.-24 others(31): Show c.-2499_-2498insAATAGATAGATAGATAGATA		AVPR1A	ENSG00000166148.4	transcript	ENST00000299178.4	protein_coding					2134		chr12	TogoVar
AVPR1A_chr12_63137759_63156201	63153338	C C	CTATCTAT others(13): Show CTATCTATCTATCTATCTATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0111 a0001c0001t0010g0111	1	448	0.0022	20	c.-25 others(31): Show c.-2503_-2502insAATAGATAGATAGATAGATA		AVPR1A	ENSG00000166148.4	transcript	ENST00000299178.4	protein_coding					2138		chr12	TogoVar
AXDND1_chr1_179360971_179559735	179486139	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAAAAACT	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01515.hp2 HG01517.hp1 others(28): Show HG01257.hp1 HG01515.hp2 HG01517.hp1 HG01981.hp2 HG02004.hp1 HG02132.hp1 HG02523.hp1 HG02572.hp2 HG02895.hp2 HG03710.hp1 NA18612.hp2 NA18747.hp2 NA18939.hp1 NA18949.hp1 NA18950.hp2 NA18951.hp2 NA18954.hp1 NA18964.hp1 NA18986.hp2 NA18987.hp1 NA19002.hp2 NA19004.hp1 NA19005.hp1 NA19030.hp1 NA19054.hp2 NA19060.hp2 NA19062.hp1 NA19063.hp1 NA19065.hp2 NA19082.hp1 NA20905.hp1	a0001 a0002 a0012 others(1): Show a0001 a0002 a0012 a0014	a0001c0002 a0001c0007 a0001c0011 others(4): Show a0001c0002 a0001c0007 a0001c0011 a0001c0021 a0002c0019 a0012c0014 a0014c0025	a0001c0002t0001 a0001c0007t0001 a0001c0011t0001 others(4): Show a0001c0002t0001 a0001c0007t0001 a0001c0011t0001 a0001c0021t0001 a0002c0019t0001 a0012c0014t0001 a0014c0025t0001	a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0088 others(28): Show a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0093 a0001c0002t0001g0102 a0001c0002t0001g0109 a0001c0002t0001g0110 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0114 a0001c0002t0001g0115 a0001c0002t0001g0116 a0001c0002t0001g0121 a0001c0002t0001g0124 a0001c0002t0001g0152 a0001c0002t0001g0153 a0001c0002t0001g0236 a0001c0002t0001g0323 a0001c0007t0001g0183 a0001c0007t0001g0189 a0001c0007t0001g0202 a0001c0011t0001g0085 a0001c0011t0001g0086 a0001c0011t0001g0087 a0001c0011t0001g0157 a0001c0021t0001g0130 a0002c0019t0001g0044 a0012c0014t0001g0122 a0012c0014t0001g0139 a0014c0025t0001g0092	31	356	0.0871	20	c.209 others(39): Show c.2091+2920_2091+2921insAAAAAAAAAAAAAAAACTAA		AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	18/25					INFO_REALIGN_3_PRIME	chr1	TogoVar
AXDND1_chr1_179360971_179559735	179486139	A A	AAAAAAAA others(13): Show AAAAAAAAAACAAAAAAAACT	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0106 a0001c0002t0001g0106	1	356	0.0028	20	c.209 others(39): Show c.2091+2920_2091+2921insAAAAAAACAAAAAAAACTAA		AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	18/25					INFO_REALIGN_3_PRIME	chr1	TogoVar

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