Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ATXN7_chr3_63858867_64008462	63964073	A A	AACACACA others(5): Show AACACACACACAC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02965.hp1 HG03540.hp2 others(1): Show HG02809.hp1 HG02965.hp1 HG03540.hp2 HG03579.hp1	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0020 a0009c0009t0049 a0009c0009t0067 a0009c0009t0020 a0009c0009t0049 a0009c0009t0067	a0009c0009t0020g0156 a0009c0009t0020g0157 a0009c0009t0049g0151 others(1): Show a0009c0009t0020g0156 a0009c0009t0020g0157 a0009c0009t0049g0151 a0009c0009t0067g0155	4	300	0.0133	12	c.499 others(31): Show c.499+11615_499+11626dupACACACACACAC	ATXN7	ENSG00000163635.20	transcript	ENST00000674280.1	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATXN7_chr3_63858867_64008462	63982623	A A	AGTGTGTG others(5): Show AGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03098.hp1 NA20300.hp1 HG03098.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0002c0002t0044 a0001c0001t0005 a0002c0002t0044	a0001c0001t0005g0267 a0002c0002t0044g0146 a0001c0001t0005g0267 a0002c0002t0044g0146	2	300	0.0067	12	c.101 others(29): Show c.1012+203_1012+214dupGTGTGTGTGTGT	ATXN7	ENSG00000163635.20	transcript	ENST00000674280.1	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr3	TogoVar
AUH_chr9_91208823_91366918	91249298	A A	AAAAAAAA others(5): Show AAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0342 a0001c0001t0001g0342	1	358	0.0028	12	c.656 others(31): Show c.656-28307_656-28306insCTTTTTTTTTTT	AUH	ENSG00000148090.12	transcript	ENST00000375731.9	protein_coding	6/9			chr9	TogoVar
AUH_chr9_91208823_91366918	91347212	T T	TTTTGTTT others(5): Show TTTTGTTTGTTTG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00621.hp1 HG00639.hp2 others(30): Show HG00597.hp1 HG00621.hp1 HG00639.hp2 HG01175.hp2 HG02015.hp1 HG02074.hp1 HG02132.hp1 HG02572.hp1 HG02896.hp1 HG03017.hp1 HG03139.hp1 HG03453.hp2 HG03516.hp2 HG03579.hp2 HG03688.hp1 NA18612.hp2 NA18947.hp2 NA18948.hp2 NA18950.hp2 NA18959.hp2 NA18965.hp1 NA18965.hp2 NA18973.hp1 NA18982.hp1 NA18987.hp2 NA18992.hp1 NA19002.hp1 NA19010.hp1 NA19030.hp1 NA19065.hp1 NA19074.hp2 NA19077.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0023 others(29): Show a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0030 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0045 a0001c0001t0001g0050 a0001c0001t0001g0058 a0001c0001t0001g0340 a0001c0002t0001g0011 a0001c0002t0001g0258 a0001c0002t0001g0260 a0001c0002t0001g0270 a0001c0002t0001g0271 a0001c0002t0001g0272 a0001c0002t0001g0273 a0001c0002t0001g0275 a0001c0002t0001g0336 a0001c0002t0001g0338 a0001c0002t0001g0339 a0001c0002t0002g0255 a0001c0002t0002g0256 a0001c0002t0002g0257 a0001c0002t0002g0259	33	358	0.0922	12	c.418 others(29): Show c.418+8659_418+8670dupCAAACAAACAAA	AUH	ENSG00000148090.12	transcript	ENST00000375731.9	protein_coding	3/9			chr9	TogoVar
AUP1_chr2_74521652_74534706	74532431	G G	GTACATCT others(5): Show GTACATCTTTTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	388	0.0026	12	c.-28 others(23): Show c.-2814_-2803dupATAAAAGATGTA	AUP1	ENSG00000115307.17	transcript	ENST00000377526.4	protein_coding		2726		chr2	TogoVar
AURKB_chr17_8199734_8215575	8200117	A A	AGAGAAAA others(5): Show AGAGAAAACACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(283): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp2 HG02080.hp2 HG02083.hp2 HG02109.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02895.hp2 HG02896.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03471.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18940.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp2 NA18948.hp2 NA18950.hp1 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18955.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18966.hp2 NA18967.hp1 NA18968.hp2 NA18969.hp2 NA18972.hp1 NA18973.hp2 NA18975.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp2 NA18984.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19002.hp1 NA19004.hp1 NA19007.hp1 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19057.hp1 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19076.hp1 NA19079.hp1 NA19080.hp2 NA19082.hp2 NA19083.hp2 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19090.hp1 NA19090.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0006	a0001c0001 a0001c0003 a0002c0002 others(3): Show a0001c0001 a0001c0003 a0002c0002 a0004c0005 a0005c0007 a0006c0006	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0002c0002t0001 a0004c0005t0001 a0005c0007t0001 a0006c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(70): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0002g0101 a0001c0003t0001g0006 a0001c0003t0001g0031 a0001c0003t0001g0041 a0001c0003t0001g0071 a0001c0003t0001g0077 a0001c0003t0001g0079 a0002c0002t0001g0002 a0002c0002t0001g0009 a0004c0005t0001g0056 a0004c0005t0001g0059 a0005c0007t0001g0073 a0006c0006t0001g0085	286	428	0.6682	12	c.47 others(23): Show c.4753_*4754insAGGTGTTTTCTC	AURKB	ENSG00000178999.13	transcript	ENST00000585124.6	protein_coding		4616		chr17	TogoVar
AURKB_chr17_8199734_8215575	8208593	A A	AAAATAAA others(5): Show AAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01168.hp1 HG01169.hp2 others(11): Show HG01074.hp2 HG01168.hp1 HG01169.hp2 HG01257.hp2 HG02615.hp2 HG02630.hp2 HG02717.hp2 HG02738.hp1 HG03209.hp2 HG03540.hp1 HG03669.hp2 HG04228.hp1 NA18522.hp2 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0038 a0001c0001t0001g0039 others(4): Show a0001c0001t0001g0015 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0087 a0001c0001t0001g0099	14	428	0.0327	12	c.49- others(25): Show c.49-765_49-754dupATTTATTTATTT	AURKB	ENSG00000178999.13	transcript	ENST00000585124.6	protein_coding	2/8			chr17	TogoVar
AURKB_chr17_8199734_8215575	8208629	T T	TAAATAAA others(5): Show TAAATAAATAAAA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	428	0.0023	12	c.49- others(25): Show c.49-790_49-789insTTTTATTTATTT	AURKB	ENSG00000178999.13	transcript	ENST00000585124.6	protein_coding	2/8			chr17	TogoVar
AURKB_chr17_8199734_8215575	8214581	G G	GATATATA others(5): Show GATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02970.hp2 HG03490.hp2 others(1): Show HG02280.hp1 HG02970.hp2 HG03490.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0001 a0001c0003t0001g0036 a0001c0001t0001g0001 a0001c0003t0001g0036	4	428	0.0094	12	c.-40 others(23): Show c.-4078_-4077insATATATATATAT	AURKB	ENSG00000178999.13	transcript	ENST00000585124.6	protein_coding		4007		chr17	TogoVar
AURKB_chr17_8199734_8215575	8215243	A A	AGAGACTG others(5): Show AGAGACTGTTGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0007 a0002c0002t0001g0007	1	428	0.0023	12	c.-47 others(23): Show c.-4740_-4739insCGCAACAGTCTC	AURKB	ENSG00000178999.13	transcript	ENST00000585124.6	protein_coding		4669		chr17	TogoVar
AURKC_chr19_57226023_57240548	57237823	T T	TATCGATT others(5): Show TATCGATTGGCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	410	0.0024	12	c.24 others(23): Show c.2406_*2407insATCGATTGGCTG	AURKC	ENSG00000105146.14	transcript	ENST00000302804.12	protein_coding		2276		chr19	TogoVar
AURKC_chr19_57226023_57240548	57239587	T T	TAGAGAGA others(5): Show TAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG02071.hp1 HG02647.hp1 others(10): Show HG01891.hp1 HG02071.hp1 HG02647.hp1 HG03130.hp2 NA18612.hp2 NA18944.hp1 NA18946.hp2 NA18959.hp2 NA18969.hp1 NA18973.hp1 NA19043.hp2 NA19087.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0004t0001 a0001c0001t0002 a0001c0004t0001	a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0005 others(4): Show a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0009 a0001c0004t0001g0015 a0001c0004t0001g0045	13	410	0.0317	12	c.41 others(23): Show c.4170_*4171insAGAGAGAGAGAG	AURKC	ENSG00000105146.14	transcript	ENST00000302804.12	protein_coding		4040		chr19	TogoVar
AUTS2_chr7_69593475_70798506	69614314	C C	CTCTTTCT others(5): Show CTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01175.hp2 HG02165.hp2 others(7): Show HG01081.hp2 HG01175.hp2 HG02165.hp2 HG03041.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG04199.hp1 NA19030.hp2 NA19240.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0004 a0003c0006 a0001c0001 a0001c0004 a0003c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0001t0022 a0001c0001t0029 a0001c0001t0034 a0001c0004t0012 a0001c0004t0013 a0003c0006t0003	a0001c0001t0001g0026 a0001c0001t0003g0076 a0001c0001t0005g0015 others(7): Show a0001c0001t0001g0026 a0001c0001t0003g0076 a0001c0001t0005g0015 a0001c0001t0009g0006 a0001c0001t0022g0032 a0001c0001t0029g0022 a0001c0001t0034g0018 a0001c0004t0012g0024 a0001c0004t0013g0025 a0003c0006t0003g0034	10	76	0.1316	12	c.309 others(31): Show c.309+14394_309+14405dupCTTTCTTTCTTT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	69714237	A A	ATGTGTGT others(5): Show ATGTGTGTATATG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0070 a0001c0001t0014g0070	1	76	0.0132	12	c.309 others(33): Show c.309+114282_309+114283insATATGTGTGTGT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	69730019	T T	TTTTTTTT others(5): Show TTTTTTTTTTTTA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01952.hp2 HG02647.hp2 others(2): Show HG01175.hp2 HG01952.hp2 HG02647.hp2 HG03017.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0029 a0001c0001t0034 others(1): Show a0001c0001t0005 a0001c0001t0029 a0001c0001t0034 a0001c0001t0035	a0001c0001t0005g0005 a0001c0001t0005g0020 a0001c0001t0029g0022 others(2): Show a0001c0001t0005g0005 a0001c0001t0005g0020 a0001c0001t0029g0022 a0001c0001t0034g0018 a0001c0001t0035g0019	5	76	0.0658	12	c.309 others(33): Show c.309+130057_309+130058insTTTTTTTTTTTA	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18			chr7	TogoVar
AUTS2_chr7_69593475_70798506	69759770	G G	GCCCCCCC others(5): Show GCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0022 a0001c0001t0029g0022	1	76	0.0132	12	c.310 others(33): Show c.310-139508_310-139497dupCCCCCCCCCCCC	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(5): Show TTATATATATATA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03041.hp1 HG03579.hp1 HG02622.hp1 HG03041.hp1 HG03579.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0010 a0001c0001 a0001c0005 a0002c0010	a0001c0001t0034 a0001c0005t0030 a0002c0010t0033 a0001c0001t0034 a0001c0005t0030 a0002c0010t0033	a0001c0001t0034g0018 a0001c0005t0030g0013 a0002c0010t0033g0014 a0001c0001t0034g0018 a0001c0005t0030g0013 a0002c0010t0033g0014	3	76	0.0395	12	c.310 others(31): Show c.310-28839_310-28838insTATATATATATA	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18			chr7	TogoVar
AUTS2_chr7_69593475_70798506	69870448	A A	AATATATA others(5): Show AATATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01175.hp1 HG03239.hp1 others(2): Show HG01081.hp1 HG01175.hp1 HG03239.hp1 HG04199.hp1 NA18952.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0001 a0001c0001t0003 a0003c0006t0003 a0001c0001t0001 a0001c0001t0003 a0003c0006t0003	a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0003g0031 others(2): Show a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0003g0031 a0001c0001t0003g0035 a0003c0006t0003g0034	5	76	0.0658	12	c.310 others(31): Show c.310-28831_310-28820dupATATATATATAT	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(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0020 a0001c0001t0005g0020	1	76	0.0132	12	c.310 others(31): Show c.310-26437_310-26426dupTTTTTTTTTTTT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	69879120	C C	CTGTGTGT others(5): Show CTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0003 a0001c0001t0018g0003	1	76	0.0132	12	c.310 others(31): Show c.310-20140_310-20129dupGTGTGTGTGTGT	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(5): Show GATATATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03225.hp1 HG03540.hp2 HG02615.hp2 HG03225.hp1 HG03540.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0009 a0002c0002t0026 a0002c0002t0036 a0001c0001t0009 a0002c0002t0026 a0002c0002t0036	a0001c0001t0009g0006 a0002c0002t0026g0011 a0002c0002t0036g0017 a0001c0001t0009g0006 a0002c0002t0026g0011 a0002c0002t0036g0017	3	76	0.0395	12	c.310 others(31): Show c.310-10725_310-10714dupATATATATATAT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	69914356	G G	GACACACA others(5): Show GACACACACACAC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG03139.hp2 HG03579.hp1 HG01081.hp2 HG03139.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0034 a0001c0001t0005 a0001c0001t0034	a0001c0001t0005g0012 a0001c0001t0005g0015 a0001c0001t0034g0018 a0001c0001t0005g0012 a0001c0001t0005g0015 a0001c0001t0034g0018	3	76	0.0395	12	c.522 others(31): Show c.522+14886_522+14897dupCACACACACACA	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	69917822	T T	TTTGTTGT others(5): Show TTTGTTGTTGTTG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02630.hp1 HG02630.hp2 HG02055.hp2 HG02630.hp1 HG02630.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0020 a0001c0003t0008 a0002c0002t0031 a0001c0001t0020 a0001c0003t0008 a0002c0002t0031	a0001c0001t0020g0029 a0001c0003t0008g0069 a0002c0002t0031g0007 a0001c0001t0020g0029 a0001c0003t0008g0069 a0002c0002t0031g0007	3	76	0.0395	12	c.522 others(31): Show c.522+18352_522+18363dupTTGTTGTTGTTG	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	69927186	T T	TTATATAT others(5): Show TTATATATATATA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0068 a0001c0001t0003g0068	1	76	0.0132	12	c.522 others(31): Show c.522+27697_522+27708dupTATATATATATA	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	69978859	A A	AACACACA others(5): Show AACACACACACAC	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0064 a0001c0001t0010g0064	1	76	0.0132	12	c.522 others(31): Show c.522+79392_522+79403dupACACACACACAC	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	69996946	T T	TAAAAAAA others(5): Show TAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01081.hp1 HG02630.hp1 others(3): Show HG00741.hp1 HG01081.hp1 HG02630.hp1 HG04199.hp1 HG04199.hp2 NA18612.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0001 a0001c0001t0007 a0001c0001t0020 others(2): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0020 a0001c0001t0028 a0003c0006t0003	a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0007g0040 others(3): Show a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0007g0040 a0001c0001t0020g0029 a0001c0001t0028g0021 a0003c0006t0003g0034	6	76	0.0790	12	c.522 others(31): Show c.522+97455_522+97466dupAAAAAAAAAAAA	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70081965	T T	TGTGTGTG others(5): Show TGTGTGTGTGCGC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0026 a0002c0002t0026	a0002c0002t0026g0011 a0002c0002t0026g0011	1	76	0.0132	12	c.523 others(31): Show c.523-36166_523-36165insTGTGTGTGCGCG	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70090009	C C	CAAATAAA others(5): Show CAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	76	0.0132	12	c.523 others(31): Show c.523-28098_523-28087dupAAATAAATAAAT	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(5): Show TAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0051 a0001c0001t0004g0051	1	76	0.0132	12	c.660 others(31): Show c.660+22345_660+22356dupAAAAAAAAAAAA	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70185257	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02630.hp1 HG02630.hp2 others(4): Show HG02258.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG03041.hp2 HG03225.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0019 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0019 a0001c0001t0020 a0001c0001t0023 a0001c0003t0008	a0001c0001t0001g0026 a0001c0001t0001g0074 a0001c0001t0003g0076 others(4): Show a0001c0001t0001g0026 a0001c0001t0001g0074 a0001c0001t0003g0076 a0001c0001t0019g0075 a0001c0001t0020g0029 a0001c0001t0023g0072 a0001c0003t0008g0069	7	76	0.0921	12	c.660 others(31): Show c.660+50702_660+50713dupTTTTTTTTTTTT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70245144	G G	GTATATAT others(5): Show GTATATATATATA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03540.hp2 NA21309.hp2 HG02886.hp2 HG03540.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0009 a0001c0003t0027 a0001c0001t0009 a0001c0003t0027	a0001c0001t0009g0006 a0001c0001t0009g0008 a0001c0003t0027g0009 a0001c0001t0009g0006 a0001c0001t0009g0008 a0001c0003t0027g0009	3	76	0.0395	12	c.660 others(33): Show c.660+110588_660+110599dupTATATATATATA	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(5): Show TATATATATATAA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0040 a0001c0001t0007g0040	1	76	0.0132	12	c.660 others(33): Show c.660+110599_660+110600insTATATATATAAA	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70303434	G G	GCACACAC others(5): Show GCACACACACACA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02615.hp2 HG01175.hp2 HG02615.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0029 a0002c0002t0026 a0001c0001t0029 a0002c0002t0026	a0001c0001t0029g0022 a0002c0002t0026g0011 a0001c0001t0029g0022 a0002c0002t0026g0011	2	76	0.0263	12	c.661 others(33): Show c.661-132314_661-132313insCACACACACACA	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70303434	G G	GCGCACAC others(5): Show GCGCACACACACA	intron_variant intron_variant	MODIFIER	HG02165.hp2 NA18612.hp2 HG02165.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0022 a0001c0001t0001 a0001c0001t0022	a0001c0001t0001g0033 a0001c0001t0022g0032 a0001c0001t0001g0033 a0001c0001t0022g0032	2	76	0.0263	12	c.661 others(33): Show c.661-132317_661-132316insGCACACACACAC	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70303434	G G	GCGCGCAC others(5): Show GCGCGCACACACA	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0031 a0001c0001t0003g0031	1	76	0.0132	12	c.661 others(33): Show c.661-132317_661-132316insGCGCACACACAC	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70338833	C C	CTTATTTA others(5): Show CTTATTTATTTAT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	76	0.0132	12	c.661 others(31): Show c.661-96884_661-96873dupATTTATTTATTT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70340163	A A	AACACACA others(5): Show AACACACACACAC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01952.hp2 HG03041.hp1 others(6): Show HG01081.hp2 HG01952.hp2 HG03041.hp1 HG03139.hp2 HG03239.hp1 HG03453.hp2 HG04199.hp1 NA18612.hp2 NA18952.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0005 a0003c0006 a0001c0001 a0001c0005 a0003c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0005t0030 a0003c0006t0003	a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0003g0031 others(6): Show a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0003g0031 a0001c0001t0003g0035 a0001c0001t0005g0005 a0001c0001t0005g0012 a0001c0001t0005g0015 a0001c0005t0030g0013 a0003c0006t0003g0034	9	76	0.1184	12	c.661 others(31): Show c.661-95568_661-95557dupACACACACACAC	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70410398	T T	TTTTATTT others(5): Show TTTTATTTATTTA	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0043 a0004c0009t0001g0043	1	76	0.0132	12	c.661 others(31): Show c.661-25318_661-25307dupATTTATTTATTT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70579244	T T	TAAAAAAA others(5): Show TAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0036 a0002c0002t0036	a0002c0002t0036g0017 a0002c0002t0036g0017	1	76	0.0132	12	c.691 others(33): Show c.691-119318_691-119307dupAAAAAAAAAAAA	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	5/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70665451	C C	CTATTTAT others(5): Show CTATTTATCTATT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02615.hp2 HG02647.hp1 others(2): Show HG02257.hp2 HG02615.hp2 HG02647.hp1 HG02717.hp1 HG03579.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0001c0001t0006 a0001c0001t0023 others(2): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0023 a0001c0001t0034 a0002c0002t0026	a0001c0001t0004g0054 a0001c0001t0006g0010 a0001c0001t0023g0072 others(2): Show a0001c0001t0004g0054 a0001c0001t0006g0010 a0001c0001t0023g0072 a0001c0001t0034g0018 a0002c0002t0026g0011	5	76	0.0658	12	c.691 others(31): Show c.691-33111_691-33110insCTATTTATTTAT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	5/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70665451	C C	CTATTTAT others(5): Show CTATTTATTTATT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01175.hp1 HG01884.hp2 others(6): Show HG00099.hp2 HG01175.hp1 HG01884.hp2 HG02886.hp1 HG03017.hp1 HG03139.hp1 HG03516.hp1 NA19030.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 a0001c0001t0010 a0001c0001t0016 a0001c0001t0025	a0001c0001t0001g0037 a0001c0001t0002g0047 a0001c0001t0002g0049 others(6): Show a0001c0001t0001g0037 a0001c0001t0002g0047 a0001c0001t0002g0049 a0001c0001t0004g0051 a0001c0001t0004g0056 a0001c0001t0009g0023 a0001c0001t0010g0065 a0001c0001t0016g0002 a0001c0001t0025g0050	9	76	0.1184	12	c.691 others(31): Show c.691-33100_691-33089dupATTTATTTATTT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	5/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70721279	C C	CGTGTGTG others(5): Show CGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01952.hp1 HG03225.hp2 others(1): Show HG01243.hp1 HG01952.hp1 HG03225.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0010 a0001c0001t0016 others(1): Show a0001c0001t0008 a0001c0001t0010 a0001c0001t0016 a0001c0001t0019	a0001c0001t0008g0063 a0001c0001t0010g0064 a0001c0001t0016g0002 others(1): Show a0001c0001t0008g0063 a0001c0001t0010g0064 a0001c0001t0016g0002 a0001c0001t0019g0075	4	76	0.0526	12	c.742 others(31): Show c.742+22682_742+22693dupGTGTGTGTGTGT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70729852	T T	TTGTATGT others(5): Show TTGTATGTATGTA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03516.hp2 HG03041.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0018 a0001c0001t0001 a0001c0001t0018	a0001c0001t0001g0026 a0001c0001t0018g0003 a0001c0001t0001g0026 a0001c0001t0018g0003	2	76	0.0263	12	c.742 others(31): Show c.742+31266_742+31277dupGTATGTATGTAT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70747631	G G	GTTTTGTT others(5): Show GTTTTGTTTTTGT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0076 a0001c0001t0003g0076	1	76	0.0132	12	c.743 others(31): Show c.743-15217_743-15206dupTGTTTTTGTTTT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AVEN_chr15_33861227_34044204	33871774	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02896.hp2 HG02976.hp2 others(4): Show HG02258.hp2 HG02896.hp2 HG02976.hp2 HG03041.hp2 HG03195.hp1 HG03209.hp1 NA21309.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0005 a0001c0001 a0007c0005	a0001c0001t0001 a0001c0001t0005 a0007c0005t0007 a0001c0001t0001 a0001c0001t0005 a0007c0005t0007	a0001c0001t0001g0134 a0001c0001t0001g0152 a0001c0001t0001g0212 others(4): Show a0001c0001t0001g0134 a0001c0001t0001g0152 a0001c0001t0001g0212 a0001c0001t0005g0122 a0001c0001t0005g0124 a0001c0001t0005g0194 a0007c0005t0007g0264	7	266	0.0263	12	c.517 others(27): Show c.517-756_517-745dupTTTTTTTTTTTT	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	3/5			chr15	TogoVar
AVEN_chr15_33861227_34044204	33876435	G G	GCCTATAA others(5): Show GCCTATAATAGTA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00323.hp1 others(55): Show HG00099.hp1 HG00140.hp1 HG00323.hp1 HG00408.hp2 HG00438.hp1 HG00597.hp2 HG00609.hp1 HG00735.hp1 HG01106.hp2 HG01169.hp1 HG01255.hp2 HG01256.hp2 HG01515.hp1 HG01884.hp2 HG01891.hp2 HG01943.hp2 HG01952.hp1 HG01978.hp2 HG02015.hp2 HG02040.hp1 HG02071.hp1 HG02071.hp2 HG02083.hp1 HG02083.hp2 HG02132.hp2 HG02698.hp1 HG02738.hp1 HG02922.hp2 HG02970.hp1 HG03471.hp2 HG03492.hp2 HG03654.hp1 HG03654.hp2 HG03927.hp1 HG04199.hp2 HG04228.hp1 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18945.hp1 NA18952.hp2 NA18953.hp1 NA18968.hp2 NA18979.hp1 NA18980.hp2 NA18981.hp1 NA18986.hp1 NA18987.hp1 NA18998.hp1 NA19000.hp2 NA19007.hp2 NA19056.hp1 NA19060.hp2 NA19064.hp2 NA19240.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0003c0003t0001 a0003c0003t0003	a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 others(55): Show a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0042 a0001c0001t0001g0047 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0059 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0080 a0001c0001t0001g0085 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0113 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0133 a0001c0001t0001g0144 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0179 a0001c0001t0001g0190 a0001c0001t0001g0195 a0001c0001t0001g0211 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0258 a0001c0001t0002g0078 a0001c0001t0002g0255 a0002c0002t0001g0166 a0002c0002t0001g0168 a0002c0002t0001g0169 a0002c0002t0001g0171 a0002c0002t0001g0243 a0003c0003t0001g0263 a0003c0003t0003g0004 a0003c0003t0003g0005 a0003c0003t0003g0011 a0003c0003t0003g0012 a0003c0003t0003g0015	58	266	0.2181	12	c.446 others(27): Show c.446-441_446-440insTACTATTATAGG	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5			chr15	TogoVar
AVEN_chr15_33861227_34044204	33899460	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02300.hp1 HG01081.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0045 a0001c0001t0001g0037 a0001c0001t0001g0045	2	266	0.0075	12	c.446 others(31): Show c.446-23477_446-23466dupAAAAAAAAAAAA	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5			chr15	TogoVar
AVEN_chr15_33861227_34044204	33904708	T T	TACACACA others(5): Show TACACACACACAC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00558.hp2 NA18951.hp1 others(1): Show HG00438.hp2 HG00558.hp2 NA18951.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0191 others(1): Show a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0191 a0001c0001t0002g0244	4	266	0.0150	12	c.446 others(31): Show c.446-28714_446-28713insGTGTGTGTGTGT	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5			chr15	TogoVar
AVEN_chr15_33861227_34044204	33904710	T T	TACACACA others(5): Show TACACACACACAC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02559.hp2 HG02572.hp2 others(1): Show HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02922.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0005 a0001c0001 a0007c0005	a0001c0001t0001 a0001c0001t0004 a0007c0005t0007 a0001c0001t0001 a0001c0001t0004 a0007c0005t0007	a0001c0001t0001g0157 a0001c0001t0004g0147 a0001c0001t0004g0207 others(1): Show a0001c0001t0001g0157 a0001c0001t0004g0147 a0001c0001t0004g0207 a0007c0005t0007g0265	4	266	0.0150	12	c.446 others(31): Show c.446-28716_446-28715insGTGTGTGTGTGT	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5			chr15	TogoVar
AVEN_chr15_33861227_34044204	33918458	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0071 a0001c0001t0002g0071	1	266	0.0038	12	c.446 others(31): Show c.446-42475_446-42464dupAAAAAAAAAAAA	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5			chr15	TogoVar

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