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
ARSH_chrX_3001546_3039111	3036727	A A	ATATTATA others(1): Show ATATTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01070.hp2 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0197 a0001c0001t0001g0198	2	248	0.0081	8	c.33 others(19): Show c.3342_*3343insTATTATAT	ARSH	ENSG00000205667.3	transcript	ENST00000381130.3	protein_coding		2617		chrX	TogoVar
ARSH_chrX_3001546_3039111	3036730	T T	TTATATAT others(1): Show TTATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG02622.hp2 HG02897.hp2 others(1): Show HG01109.hp1 HG02622.hp2 HG02897.hp2 HG03471.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0004c0005t0005 a0001c0001t0001 a0004c0005t0005	a0001c0001t0001g0104 a0004c0005t0005g0012 a0004c0005t0005g0214 a0001c0001t0001g0104 a0004c0005t0005g0012 a0004c0005t0005g0214	4	248	0.0161	8	c.33 others(19): Show c.3345_*3346insTATATATA	ARSH	ENSG00000205667.3	transcript	ENST00000381130.3	protein_coding		2620		chrX	TogoVar
ARSH_chrX_3001546_3039111	3036917	T T	TATATAAA others(1): Show TATATAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG01167.hp1 HG01168.hp1 others(4): Show HG00099.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp2 HG02683.hp1 HG03491.hp1 HG03492.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0002c0006 a0001c0001 a0002c0004 a0002c0006	a0001c0001t0002 a0002c0004t0002 a0002c0006t0002 a0001c0001t0002 a0002c0004t0002 a0002c0006t0002	a0001c0001t0002g0123 a0002c0004t0002g0013 a0002c0004t0002g0215 others(3): Show a0001c0001t0002g0123 a0002c0004t0002g0013 a0002c0004t0002g0215 a0002c0006t0002g0156 a0002c0006t0002g0159 a0002c0006t0002g0207	7	248	0.0282	8	c.35 others(19): Show c.3532_*3533insATATAAAA	ARSH	ENSG00000205667.3	transcript	ENST00000381130.3	protein_coding		2807		chrX	TogoVar
ARSH_chrX_3001546_3039111	3037018	A A	AAAATATA others(1): Show AAAATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0215 a0002c0004t0002g0215	1	248	0.0040	8	c.36 others(19): Show c.3633_*3634insAAATATAT	ARSH	ENSG00000205667.3	transcript	ENST00000381130.3	protein_coding		2908		chrX	TogoVar
ARSJ_chr4_113895284_113984647	113921117	A A	ACACACAC others(1): Show ACACACACT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02809.hp1 HG03041.hp2 others(8): Show HG02622.hp1 HG02809.hp1 HG03041.hp2 HG03098.hp1 NA18612.hp1 NA18998.hp1 NA18999.hp2 NA19006.hp2 NA19010.hp1 NA19030.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 others(2): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009	a0001c0001t0003g0254 a0001c0001t0005g0116 a0001c0001t0006g0026 others(7): Show a0001c0001t0003g0254 a0001c0001t0005g0116 a0001c0001t0006g0026 a0001c0001t0006g0033 a0001c0001t0006g0037 a0001c0001t0006g0038 a0001c0001t0007g0011 a0001c0001t0007g0150 a0001c0001t0007g0197 a0001c0001t0009g0021	11	350	0.0314	8	c.399 others(27): Show c.399-17443_399-17442insAGTGTGTG	ARSJ	ENSG00000180801.14	transcript	ENST00000315366.8	protein_coding	1/1			chr4	TogoVar
ARSL_chrX_2929521_2969341	2957220	C C	CAAAAAAA others(1): Show CAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03139.hp1 NA19030.hp2 others(1): Show HG02257.hp1 HG03139.hp1 NA19030.hp2 NA20300.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0003 a0003c0005t0004 a0003c0005t0003 a0003c0005t0004	a0003c0005t0003g0215 a0003c0005t0003g0216 a0003c0005t0004g0019 others(1): Show a0003c0005t0003g0215 a0003c0005t0003g0216 a0003c0005t0004g0019 a0003c0005t0004g0051	4	328	0.0122	8	c.185 others(25): Show c.185+1046_185+1053dupTTTTTTTT	ARSL	ENSG00000157399.17	transcript	ENST00000381134.9	protein_coding	3/10			chrX	TogoVar
ARSL_chrX_2929521_2969341	2959941	G G	GAGAAAGA others(1): Show GAGAAAGAA	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18954.hp1 NA18951.hp1 NA18954.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0248 a0002c0002t0003g0250 a0002c0002t0003g0248 a0002c0002t0003g0250	2	328	0.0061	8	c.23+ others(21): Show c.23+429_23+436dupTTCTTTCT	ARSL	ENSG00000157399.17	transcript	ENST00000381134.9	protein_coding	2/10			chrX	TogoVar
ARSL_chrX_2929521_2969341	2960320	G G	GAGAAAGA others(1): Show GAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02451.hp1 HG02809.hp2 others(2): Show HG02145.hp1 HG02451.hp1 HG02809.hp2 HG03098.hp1 HG03225.hp1	a0002 a0014 a0002 a0014	a0002c0003 a0014c0026 a0002c0003 a0014c0026	a0002c0003t0001 a0002c0003t0007 a0014c0026t0001 a0002c0003t0001 a0002c0003t0007 a0014c0026t0001	a0002c0003t0001g0212 a0002c0003t0001g0217 a0002c0003t0001g0242 others(2): Show a0002c0003t0001g0212 a0002c0003t0001g0217 a0002c0003t0001g0242 a0002c0003t0007g0011 a0014c0026t0001g0098	5	328	0.0152	8	c.23+ others(19): Show c.23+50_23+57dupTTCTTTCT	ARSL	ENSG00000157399.17	transcript	ENST00000381134.9	protein_coding	2/10			chrX	TogoVar
ART1_chr11_3640128_3669416	3656355	C C	CTTATTTA others(1): Show CTTATTTAT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01243.hp1 HG01346.hp2 others(35): Show HG00597.hp2 HG01243.hp1 HG01346.hp2 HG01993.hp1 HG02257.hp1 HG02280.hp2 HG02486.hp2 HG02630.hp2 HG02970.hp2 HG03130.hp2 HG03225.hp1 HG03225.hp2 HG03486.hp1 HG03540.hp1 HG03579.hp1 HG03654.hp2 HG03927.hp2 HG04115.hp2 HG04204.hp1 NA18612.hp2 NA18942.hp2 NA18950.hp1 NA18954.hp1 NA18964.hp2 NA18970.hp2 NA18973.hp1 NA18974.hp1 NA18984.hp1 NA18988.hp2 NA18997.hp2 NA19003.hp1 NA19043.hp2 NA19068.hp1 NA19074.hp1 NA19074.hp2 NA19081.hp1 NA19087.hp2 NA20905.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0002c0004 a0003c0003 others(1): Show a0001c0001 a0002c0004 a0003c0003 a0006c0008	a0001c0001t0001 a0002c0004t0002 a0003c0003t0001 others(2): Show a0001c0001t0001 a0002c0004t0002 a0003c0003t0001 a0003c0003t0002 a0006c0008t0001	a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 others(25): Show a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0002c0004t0002g0007 a0003c0003t0001g0051 a0003c0003t0001g0056 a0003c0003t0001g0059 a0003c0003t0001g0066 a0003c0003t0001g0097 a0003c0003t0002g0003 a0003c0003t0002g0007 a0003c0003t0002g0017 a0003c0003t0002g0018 a0003c0003t0002g0047 a0003c0003t0002g0048 a0003c0003t0002g0049 a0003c0003t0002g0050 a0003c0003t0002g0053 a0003c0003t0002g0054 a0003c0003t0002g0060 a0003c0003t0002g0061 a0003c0003t0002g0063 a0003c0003t0002g0065 a0003c0003t0002g0071 a0003c0003t0002g0263 a0003c0003t0002g0264 a0003c0003t0002g0302 a0006c0008t0001g0030	38	394	0.0965	8	c.-52 others(25): Show c.-52-2780_-52-2773dupATTTATTT	ART1	ENSG00000129744.3	transcript	ENST00000250693.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
ART1_chr11_3640128_3669416	3663063	C C	CTCATCTC others(1): Show CTCATCTCA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02615.hp2 HG02818.hp2 others(4): Show HG01243.hp2 HG02615.hp2 HG02818.hp2 HG02897.hp1 HG03579.hp2 NA19012.hp1 NA19056.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0024 a0001c0001t0001g0078 a0001c0001t0001g0130 others(3): Show a0001c0001t0001g0024 a0001c0001t0001g0078 a0001c0001t0001g0130 a0002c0002t0001g0179 a0002c0002t0001g0181 a0002c0002t0001g0259	7	394	0.0178	8	c.887 others(25): Show c.887-1026_887-1019dupATCTCATC	ART1	ENSG00000129744.3	transcript	ENST00000250693.2	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
ART1_chr11_3640128_3669416	3663094	C C	CTCATCTC others(1): Show CTCATCTCA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00639.hp1 HG01361.hp1 others(27): Show HG00140.hp2 HG00639.hp1 HG01361.hp1 HG02015.hp2 HG02027.hp1 HG02080.hp2 HG02615.hp1 HG03239.hp2 HG03831.hp1 HG04184.hp1 HG06807.hp2 NA18943.hp1 NA18954.hp2 NA18960.hp2 NA18961.hp2 NA18969.hp1 NA18972.hp1 NA18973.hp2 NA18985.hp2 NA18988.hp2 NA18989.hp1 NA19009.hp2 NA19011.hp1 NA19058.hp2 NA19065.hp2 NA19070.hp2 NA19076.hp2 NA19088.hp2 NA19240.hp2 NA20300.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0006 a0001c0001 a0002c0002 a0005c0006	a0001c0001t0001 a0001c0001t0007 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0007 a0002c0002t0001 a0005c0006t0001	a0001c0001t0001g0013 a0001c0001t0001g0027 a0001c0001t0001g0028 others(24): Show a0001c0001t0001g0013 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0076 a0001c0001t0001g0080 a0001c0001t0001g0120 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0157 a0001c0001t0001g0160 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0270 a0001c0001t0001g0284 a0001c0001t0001g0300 a0001c0001t0007g0079 a0002c0002t0001g0312 a0005c0006t0001g0028 a0005c0006t0001g0162	30	394	0.0761	8	c.887 others(23): Show c.887-995_887-988dupATCTCATC	ART1	ENSG00000129744.3	transcript	ENST00000250693.2	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
ART4_chr12_14820569_14848526	14830119	A A	AGTGTGTG others(1): Show AGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01168.hp1 HG02165.hp2 others(14): Show HG00099.hp2 HG01168.hp1 HG02165.hp2 HG02559.hp1 HG02698.hp2 HG02723.hp1 HG02896.hp2 HG02897.hp2 HG02970.hp2 HG03017.hp1 HG03486.hp2 NA18522.hp1 NA18522.hp2 NA19004.hp2 NA19007.hp1 NA19043.hp1 NA19240.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0006 a0001c0001 a0002c0002 a0005c0006	a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 others(4): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0002c0002t0002 a0002c0002t0004 a0002c0002t0027 a0005c0006t0002	a0001c0001t0002g0016 a0001c0001t0002g0127 a0001c0001t0002g0128 others(13): Show a0001c0001t0002g0016 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0168 a0001c0001t0002g0298 a0001c0001t0004g0210 a0001c0001t0004g0249 a0001c0001t0004g0274 a0001c0001t0004g0324 a0001c0001t0007g0333 a0002c0002t0002g0055 a0002c0002t0002g0094 a0002c0002t0002g0095 a0002c0002t0004g0074 a0002c0002t0027g0048 a0005c0006t0002g0123	17	380	0.0447	8	c.854 others(23): Show c.854-665_854-658dupACACACAC	ART4	ENSG00000111339.12	transcript	ENST00000228936.6	protein_coding	2/2			chr12	TogoVar
ART4_chr12_14820569_14848526	14830645	G G	GTATGTGT others(1): Show GTATGTGTA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02258.hp1 HG02486.hp2 HG02257.hp1 HG02258.hp1 HG02486.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0009 a0002c0002t0009 a0001c0001t0009 a0002c0002t0009	a0001c0001t0009g0170 a0002c0002t0009g0009 a0001c0001t0009g0170 a0002c0002t0009g0009	3	380	0.0079	8	c.854 others(25): Show c.854-1184_854-1183insTACACATA	ART4	ENSG00000111339.12	transcript	ENST00000228936.6	protein_coding	2/2			chr12	TogoVar
ART4_chr12_14820569_14848526	14830649	G G	GTATATAT others(1): Show GTATATATA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01074.hp2 HG01081.hp2 others(3): Show HG00621.hp2 HG01074.hp2 HG01081.hp2 HG02129.hp1 HG02559.hp2 NA19062.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0002c0004 others(1): Show a0001c0001 a0002c0002 a0002c0004 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 others(2): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 a0002c0004t0002 a0003c0003t0026	a0001c0001t0001g0212 a0001c0001t0002g0301 a0002c0002t0002g0059 others(3): Show a0001c0001t0001g0212 a0001c0001t0002g0301 a0002c0002t0002g0059 a0002c0002t0002g0089 a0002c0004t0002g0115 a0003c0003t0026g0238	6	380	0.0158	8	c.854 others(25): Show c.854-1195_854-1188dupTATATATA	ART4	ENSG00000111339.12	transcript	ENST00000228936.6	protein_coding	2/2			chr12	TogoVar
ARV1_chr1_230974094_231005733	230984343	C C	CGTGTGTG others(1): Show CGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01257.hp2 HG01258.hp1 others(12): Show HG00733.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp2 HG02109.hp1 HG02148.hp2 HG02257.hp1 HG02273.hp2 HG02818.hp1 HG03239.hp1 HG06807.hp1 NA18956.hp2 NA18979.hp2 NA18987.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0072 a0001c0001t0001g0073 others(8): Show a0001c0001t0001g0013 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0127 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0144 a0001c0001t0001g0150	15	402	0.0373	8	c.175 others(25): Show c.175-3965_175-3958dupTGTGTGTG	ARV1	ENSG00000173409.14	transcript	ENST00000310256.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
ARV1_chr1_230974094_231005733	230984359	T T	TGTGTGTG others(1): Show TGTGTGTGC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02615.hp1 HG03041.hp2 others(1): Show HG00738.hp2 HG02615.hp1 HG03041.hp2 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0047 a0001c0001t0001g0131 a0001c0001t0001g0132	4	402	0.0100	8	c.175 others(25): Show c.175-3958_175-3957insTGTGCGTG	ARV1	ENSG00000173409.14	transcript	ENST00000310256.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
ARV1_chr1_230974094_231005733	230984361	T T	TGTGTGTG others(1): Show TGTGTGTGC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00597.hp2 HG01243.hp1 HG00423.hp1 HG00597.hp2 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0134 a0001c0001t0001g0217 a0001c0001t0001g0218	3	402	0.0075	8	c.175 others(25): Show c.175-3958_175-3957insTGTGTGCG	ARV1	ENSG00000173409.14	transcript	ENST00000310256.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
ARX_chrX_24998694_25020965	25001911	A A	AACACACA others(1): Show AACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp2 HG02615.hp1 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0014 a0001c0001t0002g0007 a0001c0001t0002g0014	2	300	0.0067	8	c.27 others(19): Show c.2758_*2759insGTGTGTGT	ARX	ENSG00000004848.8	transcript	ENST00000379044.5	protein_coding		1782		chrX	TogoVar
ARX_chrX_24998694_25020965	25018639	T T	TTATATAT others(1): Show TTATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00639.hp1 HG01496.hp2 others(19): Show HG00140.hp1 HG00639.hp1 HG01496.hp2 HG02027.hp1 HG02040.hp1 HG02148.hp2 HG02602.hp1 HG04184.hp2 HG04199.hp1 NA18940.hp1 NA18941.hp2 NA18948.hp1 NA18960.hp1 NA18980.hp2 NA18981.hp2 NA18984.hp1 NA19003.hp1 NA19007.hp1 NA19074.hp1 NA19081.hp2 NA19087.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0003 a0001c0001t0001 a0001c0001t0002 a0001c0002t0003	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 others(5): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0021 a0001c0001t0002g0002 a0001c0001t0002g0013 a0001c0001t0002g0048 a0001c0002t0003g0052	22	300	0.0733	8	c.-29 others(19): Show c.-2903_-2902insTATATATA	ARX	ENSG00000004848.8	transcript	ENST00000379044.5	protein_coding		2675		chrX	TogoVar
AR_chrX_67539021_67735619	67551001	G G	GTTTTTTT others(1): Show GTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0051 a0051	a0051c0057 a0051c0057	a0051c0057t0038 a0051c0057t0038	a0051c0057t0038g0165 a0051c0057t0038g0165	1	193	0.0052	8	c.161 others(27): Show c.1616+4255_1616+4262dupTTTTTTTT	AR	ENSG00000169083.18	transcript	ENST00000374690.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
AR_chrX_67539021_67735619	67604198	A A	ATGTGTGT others(1): Show ATGTGTGTG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02886.hp2 HG02647.hp1 HG02886.hp2	a0006 a0009 a0006 a0009	a0006c0016 a0009c0013 a0006c0016 a0009c0013	a0006c0016t0031 a0009c0013t0004 a0006c0016t0031 a0009c0013t0004	a0006c0016t0031g0007 a0009c0013t0004g0184 a0006c0016t0031g0007 a0009c0013t0004g0184	2	193	0.0104	8	c.161 others(29): Show c.1617-39018_1617-39011dupGTGTGTGT	AR	ENSG00000169083.18	transcript	ENST00000374690.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
AR_chrX_67539021_67735619	67626610	T T	TTATATAT others(1): Show TTATATATA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0027 a0027	a0027c0027 a0027c0027	a0027c0027t0051 a0027c0027t0051	a0027c0027t0051g0179 a0027c0027t0051g0179	1	193	0.0052	8	c.161 others(29): Show c.1617-16628_1617-16621dupATATATAT	AR	ENSG00000169083.18	transcript	ENST00000374690.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
AR_chrX_67539021_67735619	67711347	A A	ATTGTGTG others(1): Show ATTGTGTGT	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0001 a0007c0006t0001	a0007c0006t0001g0102 a0007c0006t0001g0102	1	193	0.0052	8	c.188 others(23): Show c.1886-52_1886-45dupGTGTGTTT	AR	ENSG00000169083.18	transcript	ENST00000374690.9	protein_coding	3/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
AR_chrX_67539021_67735619	67720879	T T	TACACACA others(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0025 a0025	a0025c0049 a0025c0049	a0025c0049t0052 a0025c0049t0052	a0025c0049t0052g0009 a0025c0049t0052g0009	1	193	0.0052	8	c.231 others(25): Show c.2319-931_2319-924dupACACACAC	AR	ENSG00000169083.18	transcript	ENST00000374690.9	protein_coding	5/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
AR_chrX_67539021_67735619	67723312	C C	CTCTGTGT others(1): Show CTCTGTGTG	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG02109.hp2 HG02723.hp1 others(3): Show HG01256.hp1 HG02109.hp2 HG02723.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2	a0001 a0009 a0017 others(3): Show a0001 a0009 a0017 a0018 a0022 a0057	a0001c0001 a0009c0013 a0017c0017 others(3): Show a0001c0001 a0009c0013 a0017c0017 a0018c0029 a0022c0021 a0057c0062	a0001c0001t0001 a0009c0013t0004 a0017c0017t0035 others(3): Show a0001c0001t0001 a0009c0013t0004 a0017c0017t0035 a0018c0029t0065 a0022c0021t0034 a0057c0062t0010	a0001c0001t0001g0091 a0009c0013t0004g0184 a0017c0017t0035g0159 others(3): Show a0001c0001t0001g0091 a0009c0013t0004g0184 a0017c0017t0035g0159 a0018c0029t0065g0186 a0022c0021t0034g0147 a0057c0062t0010g0185	6	193	0.0311	8	c.260 others(25): Show c.2607+329_2607+330insCTGTGTGT	AR	ENSG00000169083.18	transcript	ENST00000374690.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
AR_chrX_67539021_67735619	67723312	C C	CTGTGTGT others(1): Show CTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0013 a0013	a0013c0012 a0013c0012	a0013c0012t0005 a0013c0012t0005	a0013c0012t0005g0168 a0013c0012t0005g0168	1	193	0.0052	8	c.260 others(25): Show c.2608-340_2608-333dupGTGTGTGT	AR	ENSG00000169083.18	transcript	ENST00000374690.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
AR_chrX_67539021_67735619	67723353	T T	TGTGTGTC others(1): Show TGTGTGTCA	intron_variant intron_variant	MODIFIER	HG02615.hp1 NA18906.hp2 HG02615.hp1 NA18906.hp2	a0016 a0063 a0016 a0063	a0016c0024 a0063c0073 a0016c0024 a0063c0073	a0016c0024t0011 a0063c0073t0067 a0016c0024t0011 a0063c0073t0067	a0016c0024t0011g0004 a0063c0073t0067g0169 a0016c0024t0011g0004 a0063c0073t0067g0169	2	193	0.0104	8	c.260 others(25): Show c.2608-333_2608-332insGTGTGTCA	AR	ENSG00000169083.18	transcript	ENST00000374690.9	protein_coding	7/7			chrX	TogoVar
AR_chrX_67539021_67735619	67723520	A A	AACACACA others(1): Show AACACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(128): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00609.hp1 HG00621.hp1 HG00642.hp1 HG00673.hp1 HG00735.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01169.hp1 HG01192.hp1 HG01258.hp1 HG01261.hp1 HG01358.hp1 HG01433.hp1 HG01515.hp1 HG01891.hp1 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02257.hp1 HG02258.hp1 HG02300.hp1 HG02451.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp2 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02922.hp1 HG03017.hp1 HG03041.hp1 HG03130.hp1 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03654.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp2 HG03942.hp1 HG04115.hp1 HG04199.hp1 HG04204.hp1 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18952.hp1 NA18953.hp1 NA18955.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18965.hp1 NA18966.hp1 NA18967.hp1 NA18971.hp1 NA18974.hp1 NA18977.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18985.hp1 NA18986.hp1 NA18988.hp1 NA18989.hp1 NA18990.hp1 NA18994.hp1 NA18995.hp1 NA19000.hp1 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19012.hp1 NA19043.hp1 NA19056.hp1 NA19058.hp1 NA19060.hp1 NA19063.hp1 NA19066.hp1 NA19067.hp1 NA19068.hp1 NA19070.hp1 NA19072.hp1 NA19079.hp1 NA19083.hp1 NA19085.hp1 NA19086.hp1 NA19088.hp1 NA19091.hp1 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(48): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0022 a0024 a0026 a0027 a0028 a0030 a0031 a0032 a0033 a0034 a0035 a0036 a0037 a0039 a0046 a0049 a0052 a0053 a0055 a0056 a0058 a0059 a0061 a0062 a0064 a0065 a0066 a0067 a0068 a0069 a0070	a0001c0001 a0002c0002 a0003c0004 others(57): Show a0001c0001 a0002c0002 a0003c0004 a0003c0077 a0004c0003 a0005c0007 a0005c0067 a0006c0016 a0007c0006 a0008c0005 a0009c0013 a0009c0025 a0010c0014 a0010c0078 a0010c0079 a0011c0008 a0012c0011 a0012c0052 a0013c0012 a0013c0064 a0014c0009 a0015c0010 a0016c0024 a0016c0058 a0017c0017 a0018c0029 a0018c0066 a0019c0018 a0020c0019 a0022c0021 a0024c0023 a0026c0051 a0027c0027 a0028c0028 a0030c0030 a0031c0082 a0032c0031 a0033c0032 a0034c0034 a0035c0035 a0036c0036 a0037c0037 a0039c0040 a0046c0050 a0049c0055 a0052c0059 a0053c0060 a0055c0065 a0056c0061 a0058c0069 a0059c0070 a0061c0071 a0062c0072 a0064c0074 a0065c0075 a0066c0076 a0067c0081 a0068c0083 a0069c0084 a0070c0085	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(100): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0024 a0001c0001t0025 a0001c0001t0064 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0009 a0002c0002t0012 a0002c0002t0014 a0002c0002t0063 a0003c0004t0001 a0003c0004t0003 a0003c0004t0008 a0003c0004t0012 a0003c0004t0017 a0003c0004t0022 a0003c0004t0036 a0003c0077t0060 a0004c0003t0001 a0004c0003t0002 a0004c0003t0008 a0004c0003t0009 a0004c0003t0016 a0004c0003t0030 a0005c0007t0001 a0005c0007t0002 a0005c0007t0015 a0005c0067t0015 a0006c0016t0002 a0007c0006t0001 a0007c0006t0003 a0007c0006t0009 a0007c0006t0059 a0008c0005t0003 a0008c0005t0006 a0008c0005t0010 a0008c0005t0033 a0009c0013t0004 a0009c0025t0004 a0010c0014t0001 a0010c0014t0003 a0010c0014t0016 a0010c0078t0006 a0010c0079t0006 a0011c0008t0010 a0012c0011t0019 a0012c0052t0003 a0013c0012t0006 a0013c0064t0057 a0014c0009t0001 a0014c0009t0009 a0014c0009t0061 a0015c0010t0001 a0015c0010t0014 a0016c0024t0010 a0016c0058t0012 a0017c0017t0006 a0017c0017t0019 a0017c0017t0035 a0018c0029t0065 a0018c0066t0004 a0019c0018t0001 a0019c0018t0062 a0020c0019t0001 a0020c0019t0003 a0020c0019t0017 a0022c0021t0015 a0022c0021t0034 a0024c0023t0001 a0026c0051t0001 a0027c0027t0014 a0027c0027t0051 a0028c0028t0008 a0030c0030t0001 a0030c0030t0058 a0031c0082t0012 a0032c0031t0009 a0033c0032t0013 a0034c0034t0001 a0035c0035t0003 a0036c0036t0004 a0037c0037t0006 a0039c0040t0001 a0046c0050t0023 a0049c0055t0001 a0052c0059t0029 a0053c0060t0039 a0055c0065t0002 a0056c0061t0010 a0058c0069t0002 a0059c0070t0002 a0061c0071t0055 a0062c0072t0054 a0064c0074t0032 a0065c0075t0053 a0066c0076t0003 a0067c0081t0001 a0068c0083t0037 a0069c0084t0022 a0070c0085t0056	a0001c0001t0001g0008 a0001c0001t0001g0015 a0001c0001t0001g0064 others(127): Show a0001c0001t0001g0008 a0001c0001t0001g0015 a0001c0001t0001g0064 a0001c0001t0002g0026 a0001c0001t0002g0042 a0001c0001t0002g0052 a0001c0001t0002g0067 a0001c0001t0002g0075 a0001c0001t0008g0001 a0001c0001t0008g0035 a0001c0001t0024g0030 a0001c0001t0025g0166 a0001c0001t0064g0013 a0002c0002t0001g0028 a0002c0002t0001g0057 a0002c0002t0001g0092 a0002c0002t0002g0043 a0002c0002t0003g0032 a0002c0002t0003g0061 a0002c0002t0009g0029 a0002c0002t0012g0189 a0002c0002t0012g0190 a0002c0002t0014g0027 a0002c0002t0063g0058 a0003c0004t0001g0054 a0003c0004t0001g0056 a0003c0004t0001g0076 a0003c0004t0001g0090 a0003c0004t0003g0081 a0003c0004t0008g0041 a0003c0004t0012g0103 a0003c0004t0017g0101 a0003c0004t0022g0022 a0003c0004t0036g0170 a0003c0077t0060g0100 a0004c0003t0001g0036 a0004c0003t0001g0097 a0004c0003t0002g0010 a0004c0003t0002g0088 a0004c0003t0002g0096 a0004c0003t0008g0059 a0004c0003t0009g0080 a0004c0003t0016g0037 a0004c0003t0030g0063 a0005c0007t0001g0048 a0005c0007t0001g0051 a0005c0007t0001g0108 a0005c0007t0002g0095 a0005c0007t0015g0110 a0005c0067t0015g0014 a0006c0016t0002g0023 a0007c0006t0001g0102 a0007c0006t0003g0068 a0007c0006t0009g0074 a0007c0006t0059g0069 a0008c0005t0003g0003 a0008c0005t0006g0118 a0008c0005t0010g0003 a0008c0005t0033g0148 a0009c0013t0004g0184 a0009c0025t0004g0164 a0010c0014t0001g0070 a0010c0014t0003g0019 a0010c0014t0016g0016 a0010c0078t0006g0183 a0010c0079t0006g0119 a0011c0008t0010g0120 a0012c0011t0019g0126 a0012c0052t0003g0071 a0013c0012t0006g0124 a0013c0012t0006g0128 a0013c0064t0057g0053 a0014c0009t0001g0020 a0014c0009t0001g0046 a0014c0009t0009g0025 a0014c0009t0009g0038 a0014c0009t0061g0047 a0015c0010t0001g0002 a0015c0010t0001g0104 a0015c0010t0014g0006 a0016c0024t0010g0115 a0016c0058t0012g0107 a0017c0017t0006g0151 a0017c0017t0019g0160 a0017c0017t0035g0159 a0018c0029t0065g0186 a0018c0066t0004g0149 a0019c0018t0001g0017 a0019c0018t0001g0031 a0019c0018t0062g0106 a0020c0019t0001g0098 a0020c0019t0003g0066 a0020c0019t0017g0077 a0022c0021t0015g0116 a0022c0021t0034g0147 a0024c0023t0001g0072 a0024c0023t0001g0187 a0026c0051t0001g0034 a0027c0027t0014g0087 a0027c0027t0051g0179 a0028c0028t0008g0011 a0028c0028t0008g0012 a0030c0030t0001g0044 a0030c0030t0058g0084 a0031c0082t0012g0021 a0032c0031t0009g0049 a0033c0032t0013g0062 a0033c0032t0013g0089 a0034c0034t0001g0002 a0035c0035t0003g0073 a0036c0036t0004g0112 a0037c0037t0006g0178 a0039c0040t0001g0060 a0046c0050t0023g0045 a0049c0055t0001g0125 a0052c0059t0029g0134 a0053c0060t0039g0133 a0055c0065t0002g0099 a0056c0061t0010g0161 a0058c0069t0002g0033 a0059c0070t0002g0039 a0061c0071t0055g0086 a0062c0072t0054g0055 a0064c0074t0032g0180 a0065c0075t0053g0018 a0066c0076t0003g0040 a0067c0081t0001g0024 a0068c0083t0037g0152 a0069c0084t0022g0065 a0070c0085t0056g0082	131	193	0.6788	8	c.260 others(25): Show c.2608-153_2608-146dupACACACAC	AR	ENSG00000169083.18	transcript	ENST00000374690.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
AR_chrX_67539021_67735619	67728574	A A	AATATATA others(1): Show AATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18995.hp1 NA19072.hp1 NA18995.hp1 NA19072.hp1	a0003 a0069 a0003 a0069	a0003c0004 a0069c0084 a0003c0004 a0069c0084	a0003c0004t0022 a0069c0084t0022 a0003c0004t0022 a0069c0084t0022	a0003c0004t0022g0022 a0069c0084t0022g0065 a0003c0004t0022g0022 a0069c0084t0022g0065	2	193	0.0104	8	c.47 others(19): Show c.4767_*4774dupTATATATA	AR	ENSG00000169083.18	transcript	ENST00000374690.9	protein_coding	8/8	4775	INFO_REALIGN_3_PRIME	chrX	TogoVar
AR_chrX_67539021_67735619	67733216	T T	TTTGCATA others(1): Show TTTGCATAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0026 a0026	a0026c0051 a0026c0051	a0026c0051t0001 a0026c0051t0001	a0026c0051t0001g0034 a0026c0051t0001g0034	1	193	0.0052	8	c.93 others(19): Show c.9375_*9376insTTGCATAG	AR	ENSG00000169083.18	transcript	ENST00000374690.9	protein_coding		2598		chrX	TogoVar
AS3MT_chr10_102864470_102906899	102871546	C C	CAAAAAAA others(1): Show CAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01070.hp2 HG02040.hp2 others(6): Show HG00597.hp1 HG01070.hp2 HG02040.hp2 HG02523.hp1 HG02735.hp1 HG03942.hp2 NA18747.hp2 NA19058.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0005 a0001c0002t0023 a0001c0001t0004 a0001c0001t0005 a0001c0002t0023	a0001c0001t0004g0027 a0001c0001t0005g0094 a0001c0001t0005g0095 others(6): Show a0001c0001t0004g0027 a0001c0001t0005g0094 a0001c0001t0005g0095 a0001c0001t0005g0096 a0001c0001t0005g0097 a0001c0001t0005g0098 a0001c0001t0005g0099 a0001c0001t0005g0100 a0001c0002t0023g0026	9	362	0.0249	8	c.171 others(23): Show c.171-877_171-870dupAAAAAAAA	AS3MT	ENSG00000214435.9	transcript	ENST00000369880.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
AS3MT_chr10_102864470_102906899	102889599	C C	CTTGCCTG others(1): Show CTTGCCTGT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00639.hp2 HG00673.hp2 others(38): Show HG00597.hp1 HG00639.hp2 HG00673.hp2 HG00738.hp2 HG01169.hp1 HG01243.hp2 HG01515.hp2 HG01517.hp1 HG01952.hp1 HG02135.hp1 HG02258.hp2 HG02809.hp1 HG02818.hp2 HG02970.hp2 HG03041.hp1 HG03098.hp2 HG03139.hp2 HG03225.hp2 HG03486.hp1 HG03516.hp1 HG03834.hp1 NA18940.hp2 NA18943.hp2 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18953.hp1 NA18960.hp1 NA18963.hp2 NA18973.hp1 NA18974.hp1 NA18977.hp2 NA18983.hp1 NA18986.hp2 NA18989.hp1 NA19057.hp2 NA19067.hp1 NA19078.hp2 NA20300.hp2 NA20805.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007	a0001c0001t0008 a0001c0001t0016 a0001c0001t0022 others(9): Show a0001c0001t0008 a0001c0001t0016 a0001c0001t0022 a0001c0001t0025 a0001c0001t0026 a0001c0002t0004 a0001c0002t0018 a0001c0002t0019 a0001c0002t0023 a0001c0002t0024 a0001c0003t0004 a0001c0007t0004	a0001c0001t0008g0034 a0001c0001t0008g0035 a0001c0001t0008g0042 others(38): Show a0001c0001t0008g0034 a0001c0001t0008g0035 a0001c0001t0008g0042 a0001c0001t0008g0043 a0001c0001t0008g0045 a0001c0001t0008g0048 a0001c0001t0008g0049 a0001c0001t0008g0050 a0001c0001t0008g0051 a0001c0001t0016g0044 a0001c0001t0016g0052 a0001c0001t0022g0016 a0001c0001t0025g0046 a0001c0001t0026g0047 a0001c0002t0004g0018 a0001c0002t0004g0019 a0001c0002t0004g0021 a0001c0002t0004g0022 a0001c0002t0004g0023 a0001c0002t0004g0024 a0001c0002t0004g0025 a0001c0002t0004g0028 a0001c0002t0004g0029 a0001c0002t0004g0032 a0001c0002t0004g0033 a0001c0002t0004g0037 a0001c0002t0004g0038 a0001c0002t0004g0039 a0001c0002t0004g0040 a0001c0002t0004g0041 a0001c0002t0004g0053 a0001c0002t0004g0054 a0001c0002t0004g0055 a0001c0002t0004g0057 a0001c0002t0004g0058 a0001c0002t0018g0030 a0001c0002t0019g0031 a0001c0002t0023g0026 a0001c0002t0024g0056 a0001c0003t0004g0036 a0001c0007t0004g0020	41	362	0.1133	8	c.886 others(23): Show c.886-945_886-944insTTGCCTGT	AS3MT	ENSG00000214435.9	transcript	ENST00000369880.8	protein_coding	9/10			chr10	TogoVar
AS3MT_chr10_102864470_102906899	102889614	G G	GCCTTCCT others(1): Show GCCTTCCTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00280.hp2 others(26): Show HG00099.hp2 HG00280.hp1 HG00280.hp2 HG01167.hp2 HG01169.hp2 HG01175.hp2 HG01928.hp2 HG01952.hp2 HG01981.hp2 HG02004.hp1 HG02273.hp1 HG02683.hp1 HG02698.hp1 HG02809.hp1 HG02818.hp2 HG02970.hp1 HG03139.hp2 HG03704.hp1 HG03704.hp2 HG04184.hp2 NA18940.hp1 NA18951.hp1 NA18968.hp1 NA18983.hp2 NA19007.hp2 NA19070.hp1 NA19087.hp2 NA19090.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0001 a0001c0001t0010 a0001c0001t0011 others(3): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0002t0004 a0001c0007t0004	a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0191 others(24): Show a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0191 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0210 a0001c0001t0001g0213 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0244 a0001c0001t0001g0258 a0001c0001t0001g0283 a0001c0001t0001g0288 a0001c0001t0001g0297 a0001c0001t0001g0302 a0001c0001t0001g0305 a0001c0001t0001g0314 a0001c0001t0001g0329 a0001c0001t0010g0256 a0001c0001t0011g0211 a0001c0001t0011g0228 a0001c0001t0013g0215 a0001c0002t0004g0018 a0001c0002t0004g0021 a0001c0007t0004g0020	29	362	0.0801	8	c.886 others(23): Show c.886-905_886-898dupCCTTCCTT	AS3MT	ENSG00000214435.9	transcript	ENST00000369880.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
AS3MT_chr10_102864470_102906899	102892985	A A	AAAATAAA others(1): Show AAAATAAAT	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01952.hp2 HG01981.hp2 others(7): Show HG01928.hp2 HG01952.hp2 HG01981.hp2 HG02273.hp1 HG02280.hp2 HG02717.hp2 HG02922.hp2 HG03516.hp2 NA18522.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0014 a0001c0001t0001g0188 a0001c0001t0001g0194 others(6): Show a0001c0001t0001g0014 a0001c0001t0001g0188 a0001c0001t0001g0194 a0001c0001t0001g0207 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0288 a0001c0001t0001g0302 a0001c0001t0006g0015	10	362	0.0276	8	c.102 others(27): Show c.1020+2346_1020+2353dupATAAATAA	AS3MT	ENSG00000214435.9	transcript	ENST00000369880.8	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
ASAH1_chr8_18050992_18089107	18065882	T T	TTGTGTGT others(1): Show TTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01257.hp1 HG01258.hp1 others(8): Show HG01167.hp2 HG01257.hp1 HG01258.hp1 HG01978.hp1 HG02965.hp1 NA18965.hp1 NA18970.hp1 NA19060.hp1 NA19076.hp2 NA19077.hp1 NA19082.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 a0001c0001t0002 a0002c0002t0001 a0002c0002t0002	a0001c0001t0002g0200 a0002c0002t0001g0032 a0002c0002t0001g0136 others(4): Show a0001c0001t0002g0200 a0002c0002t0001g0032 a0002c0002t0001g0136 a0002c0002t0002g0017 a0002c0002t0002g0035 a0002c0002t0002g0132 a0002c0002t0002g0258	11	420	0.0262	8	c.382 others(25): Show c.382+1330_382+1337dupCACACACA	ASAH1	ENSG00000104763.20	transcript	ENST00000637790.2	protein_coding	5/13			chr8	TogoVar
ASAH2B_chr10_50734936_50764255	50739175	C C	CATTGATT others(1): Show CATTGATTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp2 HG01243.hp2 HG02723.hp2 others(3): Show HG01069.hp2 HG01243.hp2 HG02723.hp2 HG03516.hp2 NA18991.hp1 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0029 a0001c0001t0040 others(1): Show a0001c0001t0001 a0001c0001t0029 a0001c0001t0040 a0001c0001t0047	a0001c0001t0001g0001 a0001c0001t0029g0078 a0001c0001t0029g0080 others(2): Show a0001c0001t0001g0001 a0001c0001t0029g0078 a0001c0001t0029g0080 a0001c0001t0040g0079 a0001c0001t0047g0081	6	414	0.0145	8	c.-90 others(17): Show c.-908_-907insATTGATTG	ASAH2B	ENSG00000204147.11	transcript	ENST00000647317.2	protein_coding		760		chr10	TogoVar
ASAH2_chr10_50179861_50256516	50187084	C C	CCTCTCTC others(1): Show CCTCTCTCT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp1 HG01256.hp1 HG02698.hp2 others(2): Show HG00099.hp1 HG01256.hp1 HG02698.hp2 HG03688.hp1 NA19054.hp1	a0002 a0002	a0002c0001 a0002c0022 a0002c0001 a0002c0022	a0002c0001t0040 a0002c0001t0042 a0002c0001t0057 others(1): Show a0002c0001t0040 a0002c0001t0042 a0002c0001t0057 a0002c0022t0040	a0002c0001t0040g0310 a0002c0001t0042g0331 a0002c0001t0042g0332 others(2): Show a0002c0001t0040g0310 a0002c0001t0042g0331 a0002c0001t0042g0332 a0002c0001t0057g0338 a0002c0022t0040g0132	5	408	0.0123	8	c.22 others(17): Show c.223_*230dupAGAGAGAG	ASAH2	ENSG00000188611.17	transcript	ENST00000682911.1	protein_coding	21/21	230		chr10	TogoVar
ASAH2_chr10_50179861_50256516	50187116	T T	TCACATAC others(1): Show TCACATACA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01192.hp1 HG02258.hp2 HG02559.hp2 others(4): Show HG01192.hp1 HG02258.hp2 HG02559.hp2 HG02615.hp2 HG03130.hp1 NA19030.hp2 NA19240.hp1	a0001 a0001	a0001c0004 a0001c0007 a0001c0011 a0001c0004 a0001c0007 a0001c0011	a0001c0004t0020 a0001c0007t0020 a0001c0011t0020 others(1): Show a0001c0004t0020 a0001c0007t0020 a0001c0011t0020 a0001c0011t0109	a0001c0004t0020g0290 a0001c0004t0020g0291 a0001c0007t0020g0356 others(4): Show a0001c0004t0020g0290 a0001c0004t0020g0291 a0001c0007t0020g0356 a0001c0007t0020g0357 a0001c0007t0020g0359 a0001c0011t0020g0344 a0001c0011t0109g0355	7	408	0.0172	8	c.19 others(17): Show c.198_*199insTGTATGTG	ASAH2	ENSG00000188611.17	transcript	ENST00000682911.1	protein_coding	21/21	198		chr10	TogoVar
ASAH2_chr10_50179861_50256516	50206537	T T	TACACACA others(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(55): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00423.hp1 HG00544.hp2 HG00639.hp2 HG00642.hp2 HG00738.hp1 HG00741.hp2 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01257.hp2 HG01361.hp1 HG01517.hp1 HG01928.hp1 HG01975.hp1 HG02027.hp2 HG02155.hp1 HG02257.hp1 HG02615.hp2 HG02647.hp1 HG02717.hp2 HG02735.hp1 HG02738.hp2 HG02818.hp2 HG02886.hp2 HG03130.hp1 HG03195.hp2 HG03491.hp2 HG03540.hp2 HG03688.hp1 HG03704.hp1 HG03831.hp2 HG03942.hp1 NA18945.hp2 NA18957.hp2 NA18966.hp1 NA18973.hp2 NA18989.hp1 NA19060.hp1 NA19068.hp1 NA19075.hp1 NA19076.hp1 NA19076.hp2 NA19077.hp2 NA19082.hp1 NA19089.hp1 NA19091.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0010	a0001c0002 a0001c0007 a0001c0011 others(4): Show a0001c0002 a0001c0007 a0001c0011 a0002c0001 a0003c0003 a0003c0008 a0010c0025	a0001c0002t0028 a0001c0002t0049 a0001c0007t0020 others(23): Show a0001c0002t0028 a0001c0002t0049 a0001c0007t0020 a0001c0011t0109 a0002c0001t0002 a0002c0001t0004 a0002c0001t0007 a0002c0001t0008 a0002c0001t0017 a0002c0001t0018 a0002c0001t0021 a0002c0001t0027 a0002c0001t0029 a0002c0001t0030 a0002c0001t0039 a0002c0001t0040 a0002c0001t0042 a0002c0001t0043 a0002c0001t0060 a0002c0001t0111 a0003c0003t0001 a0003c0003t0014 a0003c0003t0015 a0003c0003t0024 a0003c0008t0014 a0010c0025t0061	a0001c0002t0028g0006 a0001c0002t0028g0303 a0001c0002t0049g0031 others(49): Show a0001c0002t0028g0006 a0001c0002t0028g0303 a0001c0002t0049g0031 a0001c0007t0020g0357 a0001c0007t0020g0359 a0001c0011t0109g0355 a0002c0001t0002g0229 a0002c0001t0004g0247 a0002c0001t0007g0038 a0002c0001t0007g0049 a0002c0001t0008g0123 a0002c0001t0008g0309 a0002c0001t0008g0323 a0002c0001t0008g0330 a0002c0001t0008g0343 a0002c0001t0017g0032 a0002c0001t0017g0321 a0002c0001t0018g0194 a0002c0001t0018g0265 a0002c0001t0018g0312 a0002c0001t0018g0324 a0002c0001t0018g0326 a0002c0001t0021g0053 a0002c0001t0021g0175 a0002c0001t0021g0195 a0002c0001t0021g0345 a0002c0001t0027g0033 a0002c0001t0027g0224 a0002c0001t0029g0322 a0002c0001t0030g0178 a0002c0001t0030g0193 a0002c0001t0030g0328 a0002c0001t0039g0327 a0002c0001t0040g0310 a0002c0001t0042g0332 a0002c0001t0043g0308 a0002c0001t0060g0317 a0002c0001t0111g0039 a0003c0003t0001g0135 a0003c0003t0001g0136 a0003c0003t0001g0137 a0003c0003t0001g0146 a0003c0003t0001g0162 a0003c0003t0001g0164 a0003c0003t0001g0174 a0003c0003t0014g0163 a0003c0003t0015g0022 a0003c0003t0015g0131 a0003c0003t0015g0134 a0003c0003t0024g0165 a0003c0008t0014g0286 a0010c0025t0061g0318	58	408	0.1422	8	c.141 others(25): Show c.1415-448_1415-441dupGTGTGTGT	ASAH2	ENSG00000188611.17	transcript	ENST00000682911.1	protein_coding	12/20			chr10	TogoVar
ASAH2_chr10_50179861_50256516	50212182	A A	AACACACA others(1): Show AACACACAC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00642.hp1 HG01069.hp1 others(16): Show HG00597.hp2 HG00642.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01257.hp1 HG01258.hp1 HG02080.hp1 HG02155.hp2 HG02572.hp1 HG02922.hp2 HG02965.hp2 HG03471.hp2 NA18906.hp2 NA18977.hp2 NA18992.hp1 NA18995.hp1 NA19004.hp2 NA19012.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0009 a0001c0002 a0001c0005 a0001c0009	a0001c0002t0003 a0001c0002t0005 a0001c0002t0013 others(7): Show a0001c0002t0003 a0001c0002t0005 a0001c0002t0013 a0001c0002t0064 a0001c0002t0071 a0001c0002t0074 a0001c0002t0085 a0001c0005t0011 a0001c0005t0098 a0001c0009t0010	a0001c0002t0003g0016 a0001c0002t0003g0093 a0001c0002t0005g0086 others(13): Show a0001c0002t0003g0016 a0001c0002t0003g0093 a0001c0002t0005g0086 a0001c0002t0013g0069 a0001c0002t0013g0070 a0001c0002t0013g0094 a0001c0002t0064g0268 a0001c0002t0071g0269 a0001c0002t0074g0271 a0001c0002t0085g0270 a0001c0005t0011g0009 a0001c0005t0011g0010 a0001c0005t0098g0037 a0001c0009t0010g0305 a0001c0009t0010g0306 a0001c0009t0010g0307	19	408	0.0466	8	c.122 others(25): Show c.1227+782_1227+789dupGTGTGTGT	ASAH2	ENSG00000188611.17	transcript	ENST00000682911.1	protein_coding	10/20			chr10	TogoVar
ASAH2_chr10_50179861_50256516	50221698	G G	GGATAGAT others(1): Show GGATAGATA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00544.hp2 HG00741.hp2 others(12): Show HG00099.hp1 HG00544.hp2 HG00741.hp2 HG01109.hp2 HG01175.hp2 HG01256.hp1 HG02145.hp1 HG02698.hp2 NA18941.hp1 NA18947.hp1 NA18986.hp2 NA18989.hp1 NA19076.hp1 NA19091.hp1 NA20805.hp1	a0002 a0002	a0002c0001 a0002c0022 a0002c0001 a0002c0022	a0002c0001t0008 a0002c0001t0017 a0002c0001t0018 others(6): Show a0002c0001t0008 a0002c0001t0017 a0002c0001t0018 a0002c0001t0021 a0002c0001t0030 a0002c0001t0041 a0002c0001t0042 a0002c0001t0059 a0002c0022t0040	a0002c0001t0008g0309 a0002c0001t0008g0330 a0002c0001t0017g0340 others(12): Show a0002c0001t0008g0309 a0002c0001t0008g0330 a0002c0001t0017g0340 a0002c0001t0018g0194 a0002c0001t0018g0265 a0002c0001t0021g0195 a0002c0001t0021g0339 a0002c0001t0030g0178 a0002c0001t0030g0193 a0002c0001t0030g0328 a0002c0001t0041g0329 a0002c0001t0042g0331 a0002c0001t0042g0332 a0002c0001t0059g0341 a0002c0022t0040g0132	15	408	0.0368	8	c.894 others(25): Show c.894-3076_894-3069dupTATCTATC	ASAH2	ENSG00000188611.17	transcript	ENST00000682911.1	protein_coding	7/20			chr10	TogoVar
ASAP1_chr8_130047104_130448674	130064893	A A	ATGTGTGT others(1): Show ATGTGTGTG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01167.hp1 HG01169.hp1 others(9): Show HG00099.hp2 HG01167.hp1 HG01169.hp1 HG01192.hp1 HG02280.hp2 HG02451.hp1 HG02922.hp2 HG03130.hp2 HG03710.hp2 NA18969.hp1 NA18984.hp2 NA19002.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0006 others(1): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0006 a0002c0002t0029	a0001c0001t0001g0171 a0002c0002t0001g0085 a0002c0002t0001g0086 others(9): Show a0001c0001t0001g0171 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0090 a0002c0002t0001g0104 a0002c0002t0001g0144 a0002c0002t0001g0145 a0002c0002t0006g0304 a0002c0002t0006g0306 a0002c0002t0006g0307 a0002c0002t0029g0095	12	308	0.0390	8	c.270 others(27): Show c.2702-3832_2702-3825dupCACACACA	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130070139	C C	CCTCAGCC others(1): Show CCTCAGCCT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01891.hp2 HG02698.hp1 others(1): Show HG00099.hp1 HG01891.hp2 HG02698.hp1 NA19030.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0010 a0001c0001 a0003c0010	a0001c0001t0018 a0001c0001t0019 a0003c0010t0019 a0001c0001t0018 a0001c0001t0019 a0003c0010t0019	a0001c0001t0018g0290 a0001c0001t0018g0294 a0001c0001t0019g0286 others(1): Show a0001c0001t0018g0290 a0001c0001t0018g0294 a0001c0001t0019g0286 a0003c0010t0019g0287	4	308	0.0130	8	c.270 others(27): Show c.2701+6208_2701+6209insAGGCTGAG	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130071009	G G	GGAGAGAG others(1): Show GGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG02293.hp1 HG02293.hp2 others(4): Show HG01943.hp1 HG02293.hp1 HG02293.hp2 HG03041.hp1 NA18985.hp2 NA19001.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 others(4): Show a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0102 a0001c0001t0001g0163 a0001c0001t0001g0167 a0001c0001t0011g0045	7	308	0.0227	8	c.270 others(27): Show c.2701+5338_2701+5339insTCTCTCTC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130072815	G G	GCGCGCGC others(1): Show GCGCGCGCA	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG02004.hp1 HG02040.hp1 others(4): Show HG01256.hp1 HG02004.hp1 HG02040.hp1 HG02280.hp1 HG02300.hp2 NA19010.hp2 NA19074.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0010 a0002c0003t0001 a0002c0003t0010	a0002c0003t0001g0019 a0002c0003t0001g0022 a0002c0003t0001g0028 others(4): Show a0002c0003t0001g0019 a0002c0003t0001g0022 a0002c0003t0001g0028 a0002c0003t0001g0030 a0002c0003t0001g0031 a0002c0003t0001g0032 a0002c0003t0010g0018	7	308	0.0227	8	c.270 others(27): Show c.2701+3532_2701+3533insTGCGCGCG	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130074486	C C	CACACACA others(1): Show CACACACAG	intron_variant intron_variant	MODIFIER	HG01516.hp1 NA18994.hp2 NA19074.hp2 HG01516.hp1 NA18994.hp2 NA19074.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0003 a0001c0001t0001 a0001c0001t0002 a0002c0002t0003	a0001c0001t0001g0196 a0001c0001t0002g0154 a0002c0002t0003g0128 a0001c0001t0001g0196 a0001c0001t0002g0154 a0002c0002t0003g0128	3	308	0.0097	8	c.270 others(27): Show c.2701+1861_2701+1862insCTGTGTGT	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130093666	C C	CAAAAAAA others(1): Show CAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00673.hp1 HG01071.hp2 others(37): Show HG00597.hp1 HG00673.hp1 HG01071.hp2 HG01168.hp2 HG01169.hp2 HG01258.hp2 HG01361.hp1 HG01516.hp2 HG01517.hp1 HG01934.hp2 HG01993.hp1 HG02027.hp1 HG02083.hp2 HG02165.hp1 HG02300.hp1 HG03239.hp2 HG03490.hp1 HG03704.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp1 HG04228.hp2 NA18942.hp1 NA18944.hp1 NA18948.hp1 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18957.hp2 NA18962.hp1 NA18975.hp2 NA18982.hp1 NA18984.hp1 NA18998.hp1 NA19001.hp2 NA19002.hp2 NA19003.hp2 NA19011.hp1 NA19070.hp1 NA20752.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 others(2): Show a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0002c0002t0016 a0002c0002t0020	a0002c0002t0001g0061 a0002c0002t0001g0137 a0002c0002t0003g0055 others(37): Show a0002c0002t0001g0061 a0002c0002t0001g0137 a0002c0002t0003g0055 a0002c0002t0003g0059 a0002c0002t0003g0082 a0002c0002t0003g0083 a0002c0002t0003g0106 a0002c0002t0003g0109 a0002c0002t0003g0113 a0002c0002t0003g0114 a0002c0002t0003g0118 a0002c0002t0003g0119 a0002c0002t0003g0121 a0002c0002t0003g0129 a0002c0002t0003g0130 a0002c0002t0003g0131 a0002c0002t0003g0136 a0002c0002t0003g0138 a0002c0002t0003g0139 a0002c0002t0003g0141 a0002c0002t0003g0152 a0002c0002t0003g0247 a0002c0002t0003g0248 a0002c0002t0003g0257 a0002c0002t0003g0258 a0002c0002t0003g0262 a0002c0002t0003g0264 a0002c0002t0003g0273 a0002c0002t0003g0274 a0002c0002t0003g0275 a0002c0002t0003g0282 a0002c0002t0003g0283 a0002c0002t0004g0107 a0002c0002t0004g0111 a0002c0002t0004g0112 a0002c0002t0004g0230 a0002c0002t0004g0231 a0002c0002t0016g0132 a0002c0002t0016g0133 a0002c0002t0020g0299	40	308	0.1299	8	c.240 others(27): Show c.2402-1531_2402-1524dupTTTTTTTT	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	24/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130101732	A A	ATTTTTTT others(1): Show ATTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00423.hp2 HG00544.hp2 others(66): Show HG00323.hp2 HG00423.hp2 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00621.hp1 HG00673.hp1 HG01071.hp2 HG01123.hp1 HG01168.hp2 HG01169.hp2 HG01258.hp2 HG01516.hp2 HG01517.hp1 HG01934.hp2 HG01993.hp1 HG02027.hp1 HG02040.hp2 HG02056.hp1 HG02080.hp1 HG02083.hp2 HG02165.hp1 HG02280.hp1 HG02300.hp1 HG02523.hp1 HG03239.hp2 HG03490.hp1 HG03654.hp2 HG03704.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp2 NA18940.hp1 NA18942.hp1 NA18944.hp1 NA18947.hp1 NA18948.hp1 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18955.hp2 NA18957.hp2 NA18960.hp2 NA18962.hp1 NA18963.hp2 NA18964.hp1 NA18969.hp2 NA18975.hp2 NA18982.hp1 NA18984.hp1 NA18990.hp1 NA18994.hp1 NA18998.hp1 NA19002.hp2 NA19003.hp2 NA19005.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19065.hp2 NA19070.hp1 NA19074.hp2 NA19080.hp2 NA20129.hp1 NA20752.hp1	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 others(5): Show a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0002c0002t0011 a0002c0002t0016 a0002c0002t0020 a0002c0002t0023 a0002c0003t0001	a0002c0002t0001g0061 a0002c0002t0001g0064 a0002c0002t0001g0068 others(66): Show a0002c0002t0001g0061 a0002c0002t0001g0064 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0072 a0002c0002t0001g0137 a0002c0002t0001g0268 a0002c0002t0003g0059 a0002c0002t0003g0065 a0002c0002t0003g0082 a0002c0002t0003g0083 a0002c0002t0003g0106 a0002c0002t0003g0109 a0002c0002t0003g0110 a0002c0002t0003g0113 a0002c0002t0003g0114 a0002c0002t0003g0115 a0002c0002t0003g0117 a0002c0002t0003g0118 a0002c0002t0003g0119 a0002c0002t0003g0120 a0002c0002t0003g0122 a0002c0002t0003g0123 a0002c0002t0003g0125 a0002c0002t0003g0126 a0002c0002t0003g0127 a0002c0002t0003g0128 a0002c0002t0003g0129 a0002c0002t0003g0130 a0002c0002t0003g0131 a0002c0002t0003g0134 a0002c0002t0003g0135 a0002c0002t0003g0136 a0002c0002t0003g0138 a0002c0002t0003g0139 a0002c0002t0003g0140 a0002c0002t0003g0141 a0002c0002t0003g0197 a0002c0002t0003g0237 a0002c0002t0003g0247 a0002c0002t0003g0248 a0002c0002t0003g0249 a0002c0002t0003g0251 a0002c0002t0003g0252 a0002c0002t0003g0257 a0002c0002t0003g0258 a0002c0002t0003g0259 a0002c0002t0003g0262 a0002c0002t0003g0264 a0002c0002t0003g0273 a0002c0002t0003g0274 a0002c0002t0003g0275 a0002c0002t0003g0282 a0002c0002t0003g0283 a0002c0002t0003g0284 a0002c0002t0004g0107 a0002c0002t0004g0111 a0002c0002t0004g0112 a0002c0002t0004g0230 a0002c0002t0004g0231 a0002c0002t0011g0235 a0002c0002t0016g0132 a0002c0002t0016g0133 a0002c0002t0020g0299 a0002c0002t0020g0300 a0002c0002t0023g0124 a0002c0003t0001g0022 a0002c0003t0001g0023 a0002c0003t0001g0028	69	308	0.2240	8	c.240 others(27): Show c.2402-9597_2402-9590dupAAAAAAAA	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	24/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130107515	A A	AATGTATG others(1): Show AATGTATGT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01975.hp2 NA18940.hp2 others(4): Show HG00735.hp2 HG01975.hp2 NA18940.hp2 NA18946.hp1 NA18990.hp2 NA19087.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0002 a0001c0001t0009	a0001c0001t0002g0054 a0001c0001t0002g0178 a0001c0001t0002g0193 others(4): Show a0001c0001t0002g0054 a0001c0001t0002g0178 a0001c0001t0002g0193 a0001c0001t0002g0207 a0001c0001t0002g0213 a0001c0001t0002g0229 a0001c0001t0009g0006	7	308	0.0227	8	c.240 others(27): Show c.2401+4571_2401+4578dupACATACAT	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	24/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130131153	A A	AAAACAAA others(1): Show AAAACAAAC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01515.hp1 HG01517.hp2 others(6): Show HG01243.hp2 HG01515.hp1 HG01517.hp2 HG02109.hp2 HG03491.hp2 NA18948.hp2 NA19010.hp1 NA19063.hp2 NA19090.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0013 a0001c0001t0001 a0002c0002t0001 a0002c0002t0013	a0001c0001t0001g0280 a0002c0002t0001g0068 a0002c0002t0001g0078 others(6): Show a0001c0001t0001g0280 a0002c0002t0001g0068 a0002c0002t0001g0078 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0142 a0002c0002t0001g0234 a0002c0002t0013g0301	9	308	0.0292	8	c.121 others(27): Show c.1218-3071_1218-3064dupGTTTGTTT	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	15/29			chr8	TogoVar

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