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
ARRB1_chr11_75255122_75356661	75353800	T T	TATATATA TATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG00738.hp2 HG02056.hp1 others(1): Show HG00597.hp1 HG00738.hp2 HG02056.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0032 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0032 a0001c0002t0001	a0001c0001t0001g0174 a0001c0001t0003g0137 a0001c0001t0032g0193 others(1): Show a0001c0001t0001g0174 a0001c0001t0003g0137 a0001c0001t0032g0193 a0001c0002t0001g0205	4	320	0.0125	7	c.-21 others(18): Show c.-2194_-2193insTATATAT	ARRB1	ENSG00000137486.17	transcript	ENST00000420843.7	protein_coding		2140		chr11	TogoVar
ARRDC4_chr15_97955703_97978833	97957254	C C	CAAAAAAA CAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00558.hp1 HG00597.hp2 others(31): Show HG00280.hp1 HG00558.hp1 HG00597.hp2 HG01071.hp2 HG01167.hp2 HG01255.hp2 HG01256.hp1 HG01975.hp2 HG02132.hp1 HG02293.hp2 HG02486.hp1 HG02602.hp1 HG02602.hp2 HG02809.hp2 HG02970.hp1 HG03130.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03654.hp2 HG03688.hp1 HG03834.hp2 HG03927.hp1 HG04199.hp2 NA18986.hp1 NA19009.hp1 NA19056.hp1 NA19059.hp2 NA19074.hp1 NA19082.hp1 NA19084.hp1 NA20905.hp2	a0001 a0002 a0014 a0001 a0002 a0014	a0001c0001 a0001c0017 a0002c0002 others(1): Show a0001c0001 a0001c0017 a0002c0002 a0014c0025	a0001c0001t0001 a0001c0001t0048 a0001c0017t0001 others(3): Show a0001c0001t0001 a0001c0001t0048 a0001c0017t0001 a0002c0002t0004 a0002c0002t0011 a0014c0025t0011	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0009 others(16): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0036 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0093 a0001c0001t0048g0096 a0001c0017t0001g0001 a0002c0002t0004g0003 a0002c0002t0004g0035 a0002c0002t0011g0017 a0002c0002t0011g0057 a0014c0025t0011g0017	34	422	0.0806	7	c.-36 others(18): Show c.-3608_-3607insAAAAAAA	ARRDC4	ENSG00000140450.9	transcript	ENST00000268042.7	protein_coding		3448		chr15	TogoVar
ARRDC4_chr15_97955703_97978833	97969856	C C	CTCTTTTT CTCTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01884.hp1 HG02145.hp1 others(11): Show HG00735.hp1 HG01884.hp1 HG02145.hp1 HG02451.hp2 HG02615.hp1 HG02622.hp1 HG02647.hp2 HG02809.hp1 HG03098.hp2 HG03195.hp1 HG03453.hp1 HG03453.hp2 NA18906.hp1 NA19043.hp1	a0002 a0003 a0002 a0003	a0002c0009 a0002c0012 a0003c0006 a0002c0009 a0002c0012 a0003c0006	a0002c0009t0017 a0002c0009t0028 a0002c0012t0022 others(3): Show a0002c0009t0017 a0002c0009t0028 a0002c0012t0022 a0003c0006t0009 a0003c0006t0021 a0003c0006t0042	a0002c0009t0017g0030 a0002c0009t0028g0030 a0002c0012t0022g0124 others(4): Show a0002c0009t0017g0030 a0002c0009t0028g0030 a0002c0012t0022g0124 a0003c0006t0009g0010 a0003c0006t0009g0039 a0003c0006t0021g0010 a0003c0006t0042g0115	14	422	0.0332	7	c.883 others(20): Show c.883-26_883-25insCTTTTTT	ARRDC4	ENSG00000140450.9	transcript	ENST00000268042.7	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr15	TogoVar
ARRDC5_chr19_4885437_4907896	4893756	A A	AGGAAGGC AGGAAGGC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00733.hp1 HG00741.hp2 others(13): Show HG00280.hp2 HG00733.hp1 HG00741.hp2 HG01106.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01243.hp2 HG01934.hp1 HG02109.hp1 HG02300.hp2 HG03017.hp1 HG03195.hp1 HG03579.hp2 HG04184.hp2 NA20752.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0005 a0001c0001 a0001c0002 a0003c0005	a0001c0001t0002 a0001c0002t0002 a0003c0005t0002 a0001c0001t0002 a0001c0002t0002 a0003c0005t0002	a0001c0001t0002g0031 a0001c0002t0002g0361 a0001c0002t0002g0362 others(12): Show a0001c0001t0002g0031 a0001c0002t0002g0361 a0001c0002t0002g0362 a0001c0002t0002g0363 a0001c0002t0002g0364 a0001c0002t0002g0365 a0001c0002t0002g0366 a0001c0002t0002g0367 a0001c0002t0002g0368 a0001c0002t0002g0369 a0001c0002t0002g0370 a0001c0002t0002g0371 a0001c0002t0002g0372 a0001c0002t0002g0374 a0003c0005t0002g0003	16	412	0.0388	7	c.460 others(24): Show c.460-2190_460-2184dupGCCTTCC	ARRDC5	ENSG00000205784.4	transcript	ENST00000650722.2	protein_coding	2/2			chr19	TogoVar
ARSB_chr5_78772209_78990310	78812592	A A	ACACACAC ACACACAC	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02135.hp1 HG03486.hp1 HG02129.hp2 HG02135.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0003t0031 a0001c0001t0003 a0001c0003t0031	a0001c0001t0003g0140 a0001c0001t0003g0339 a0001c0003t0031g0119 a0001c0001t0003g0140 a0001c0001t0003g0339 a0001c0003t0031g0119	3	360	0.0083	7	c.121 others(28): Show c.1213+26763_1213+26764insGTGTGTG	ARSB	ENSG00000113273.17	transcript	ENST00000264914.10	protein_coding	6/7			chr5	TogoVar
ARSB_chr5_78772209_78990310	78818598	C C	CTTTTTTT CTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01943.hp1 HG01975.hp1 others(3): Show HG00438.hp2 HG01943.hp1 HG01975.hp1 HG01978.hp1 HG02074.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0005 a0001c0001t0010 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0010 a0001c0001t0059 a0001c0003t0006	a0001c0001t0001g0135 a0001c0001t0005g0171 a0001c0001t0010g0107 others(3): Show a0001c0001t0001g0135 a0001c0001t0005g0171 a0001c0001t0010g0107 a0001c0001t0010g0147 a0001c0001t0059g0332 a0001c0003t0006g0254	6	360	0.0167	7	c.121 others(28): Show c.1213+20751_1213+20757dupAAAAAAA	ARSB	ENSG00000113273.17	transcript	ENST00000264914.10	protein_coding	6/7			chr5	TogoVar
ARSB_chr5_78772209_78990310	78873498	A A	ATTTTTTT ATTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00408.hp2 others(78): Show HG00140.hp1 HG00280.hp1 HG00408.hp2 HG00438.hp2 HG00609.hp1 HG00738.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01167.hp1 HG01175.hp1 HG01258.hp1 HG01261.hp1 HG01358.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01884.hp2 HG01891.hp2 HG01952.hp1 HG01993.hp1 HG02027.hp2 HG02056.hp1 HG02080.hp2 HG02129.hp2 HG02132.hp1 HG02135.hp2 HG02155.hp1 HG02280.hp2 HG02602.hp2 HG02622.hp2 HG02735.hp1 HG02738.hp2 HG02818.hp1 HG02886.hp1 HG03130.hp1 HG03453.hp2 HG03579.hp2 HG03654.hp1 HG03669.hp2 HG03834.hp2 HG03942.hp1 HG04199.hp1 NA18747.hp2 NA18941.hp1 NA18943.hp2 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp2 NA18952.hp2 NA18953.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18961.hp1 NA18962.hp2 NA18972.hp1 NA18978.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18993.hp1 NA19001.hp2 NA19004.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19030.hp2 NA19057.hp1 NA19062.hp1 NA19063.hp2 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19074.hp1 NA19077.hp1 NA19088.hp1 NA19240.hp1 NA21309.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0007 a0001c0009 others(5): Show a0001c0001 a0001c0007 a0001c0009 a0001c0017 a0001c0018 a0001c0019 a0002c0002 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(26): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0020 a0001c0001t0021 a0001c0001t0024 a0001c0001t0034 a0001c0001t0037 a0001c0001t0039 a0001c0001t0040 a0001c0001t0065 a0001c0007t0077 a0001c0009t0016 a0001c0017t0002 a0001c0018t0002 a0001c0019t0022 a0002c0002t0045 a0002c0002t0055 a0004c0006t0004 a0004c0006t0016 a0004c0006t0024	a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0031 others(78): Show a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0031 a0001c0001t0001g0035 a0001c0001t0001g0062 a0001c0001t0001g0084 a0001c0001t0001g0110 a0001c0001t0001g0134 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0236 a0001c0001t0001g0289 a0001c0001t0001g0305 a0001c0001t0001g0321 a0001c0001t0002g0005 a0001c0001t0002g0104 a0001c0001t0002g0143 a0001c0001t0002g0200 a0001c0001t0002g0209 a0001c0001t0002g0218 a0001c0001t0002g0277 a0001c0001t0003g0021 a0001c0001t0003g0034 a0001c0001t0003g0064 a0001c0001t0003g0140 a0001c0001t0003g0159 a0001c0001t0003g0167 a0001c0001t0003g0190 a0001c0001t0003g0301 a0001c0001t0003g0307 a0001c0001t0004g0238 a0001c0001t0004g0278 a0001c0001t0004g0337 a0001c0001t0005g0041 a0001c0001t0005g0075 a0001c0001t0005g0076 a0001c0001t0005g0077 a0001c0001t0005g0171 a0001c0001t0005g0172 a0001c0001t0005g0208 a0001c0001t0007g0181 a0001c0001t0008g0030 a0001c0001t0008g0036 a0001c0001t0008g0065 a0001c0001t0008g0113 a0001c0001t0008g0223 a0001c0001t0008g0279 a0001c0001t0008g0286 a0001c0001t0008g0297 a0001c0001t0010g0018 a0001c0001t0010g0029 a0001c0001t0010g0141 a0001c0001t0011g0026 a0001c0001t0011g0046 a0001c0001t0011g0105 a0001c0001t0013g0170 a0001c0001t0014g0189 a0001c0001t0014g0199 a0001c0001t0020g0028 a0001c0001t0020g0146 a0001c0001t0021g0173 a0001c0001t0021g0174 a0001c0001t0024g0182 a0001c0001t0034g0072 a0001c0001t0037g0059 a0001c0001t0039g0291 a0001c0001t0040g0288 a0001c0001t0065g0017 a0001c0007t0077g0070 a0001c0009t0016g0271 a0001c0009t0016g0272 a0001c0017t0002g0088 a0001c0018t0002g0016 a0001c0019t0022g0233 a0002c0002t0045g0302 a0002c0002t0055g0094 a0004c0006t0004g0188 a0004c0006t0004g0215 a0004c0006t0016g0221 a0004c0006t0024g0061 a0004c0006t0024g0175	81	360	0.2250	7	c.114 others(28): Show c.1142+12079_1142+12085dupAAAAAAA	ARSB	ENSG00000113273.17	transcript	ENST00000264914.10	protein_coding	5/7			chr5	TogoVar
ARSB_chr5_78772209_78990310	78905344	G G	GTTTTTTT GTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01109.hp2 HG01346.hp1 others(32): Show HG00544.hp2 HG01109.hp2 HG01346.hp1 HG01884.hp1 HG01943.hp2 HG02109.hp1 HG02135.hp1 HG02622.hp1 HG02698.hp2 HG02809.hp1 HG02896.hp2 HG02897.hp2 HG03130.hp2 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03516.hp1 HG03579.hp1 NA18906.hp1 NA18947.hp1 NA18947.hp2 NA18951.hp2 NA18954.hp2 NA18957.hp2 NA18960.hp2 NA18962.hp1 NA18988.hp1 NA19000.hp2 NA19001.hp1 NA19010.hp1 NA19063.hp1 NA19085.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0005 others(1): Show a0001c0001 a0001c0003 a0001c0005 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(16): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 a0001c0001t0031 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0005 a0001c0003t0007 a0001c0003t0012 a0001c0003t0022 a0001c0003t0028 a0001c0003t0048 a0001c0003t0060 a0001c0005t0017 a0001c0005t0074 a0002c0002t0004	a0001c0001t0001g0245 a0001c0001t0003g0034 a0001c0001t0003g0214 others(32): Show a0001c0001t0001g0245 a0001c0001t0003g0034 a0001c0001t0003g0214 a0001c0001t0003g0339 a0001c0001t0005g0195 a0001c0001t0007g0115 a0001c0001t0007g0333 a0001c0001t0011g0033 a0001c0001t0011g0046 a0001c0001t0031g0324 a0001c0003t0001g0047 a0001c0003t0001g0048 a0001c0003t0001g0049 a0001c0003t0001g0326 a0001c0003t0002g0074 a0001c0003t0002g0082 a0001c0003t0002g0101 a0001c0003t0003g0050 a0001c0003t0003g0334 a0001c0003t0005g0060 a0001c0003t0007g0011 a0001c0003t0007g0012 a0001c0003t0012g0166 a0001c0003t0012g0177 a0001c0003t0012g0232 a0001c0003t0022g0178 a0001c0003t0022g0229 a0001c0003t0028g0051 a0001c0003t0048g0266 a0001c0003t0060g0210 a0001c0005t0017g0255 a0001c0005t0017g0353 a0001c0005t0074g0073 a0002c0002t0004g0096 a0002c0002t0004g0097	35	360	0.0972	7	c.899 others(26): Show c.899-19524_899-19518dupAAAAAAA	ARSB	ENSG00000113273.17	transcript	ENST00000264914.10	protein_coding	4/7			chr5	TogoVar
ARSB_chr5_78772209_78990310	78962524	A A	ATTTTTTT ATTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02451.hp1 HG02559.hp1 others(7): Show HG02258.hp1 HG02451.hp1 HG02559.hp1 HG02717.hp2 HG02723.hp1 HG03225.hp2 HG03471.hp2 NA19043.hp2 NA20129.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 others(2): Show a0001c0001 a0001c0003 a0001c0005 a0001c0008 a0001c0022	a0001c0001t0002 a0001c0003t0002 a0001c0003t0012 others(6): Show a0001c0001t0002 a0001c0003t0002 a0001c0003t0012 a0001c0003t0018 a0001c0003t0022 a0001c0003t0035 a0001c0005t0076 a0001c0008t0002 a0001c0022t0006	a0001c0001t0002g0005 a0001c0003t0002g0276 a0001c0003t0002g0354 others(7): Show a0001c0001t0002g0005 a0001c0003t0002g0276 a0001c0003t0002g0354 a0001c0003t0012g0177 a0001c0003t0018g0057 a0001c0003t0022g0178 a0001c0003t0035g0357 a0001c0005t0076g0268 a0001c0008t0002g0120 a0001c0022t0006g0359	10	360	0.0278	7	c.690 others(24): Show c.690+1885_690+1891dupAAAAAAA	ARSB	ENSG00000113273.17	transcript	ENST00000264914.10	protein_coding	3/7			chr5	TogoVar
ARSD_chrX_2898972_2934339	2909683	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0003 a0003	a0003c0018 a0003c0018	a0003c0018t0038 a0003c0018t0038	a0003c0018t0038g0206 a0003c0018t0038g0206	1	344	0.0029	7	c.129 others(24): Show c.1298+127_1298+133dupTTTTTTT	ARSD	ENSG00000006756.16	transcript	ENST00000381154.6	protein_coding	8/9			chrX	TogoVar
ARSF_chrX_3036471_3117727	3037077	A A	ATATATAT ATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02451.hp2 HG02922.hp1 HG01884.hp2 HG02451.hp2 HG02922.hp1	a0000 a0001 a0000 a0001	a0000c0018 a0001c0001 a0001c0005 a0000c0018 a0001c0001 a0001c0005	a0000c0018t0002 a0001c0001t0001 a0001c0005t0001 a0000c0018t0002 a0001c0001t0001 a0001c0005t0001	a0000c0018t0002g0129 a0001c0001t0001g0041 a0001c0005t0001g0039 a0000c0018t0002g0129 a0001c0001t0001g0041 a0001c0005t0001g0039	3	193	0.0155	7	c.-46 others(18): Show c.-4615_-4614insTATATAT	ARSF	ENSG00000062096.15	transcript	ENST00000381127.6	protein_coding		4393		chrX	TogoVar
ARSG_chr17_68286495_68425814	68393867	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00733.hp1 HG01069.hp1 others(34): Show HG00609.hp1 HG00733.hp1 HG01069.hp1 HG01071.hp1 HG01099.hp1 HG01106.hp1 HG01515.hp1 HG01891.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02074.hp1 HG02109.hp2 HG02165.hp2 HG02486.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02922.hp2 HG02965.hp2 HG02976.hp1 HG03195.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp2 HG03579.hp1 HG03688.hp1 NA18522.hp2 NA18906.hp2 NA18982.hp2 NA18999.hp2 NA19043.hp1 NA19066.hp1 NA19081.hp1 NA19082.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0008 a0011	a0001c0005 a0001c0009 a0001c0020 others(10): Show a0001c0005 a0001c0009 a0001c0020 a0001c0024 a0001c0025 a0002c0017 a0003c0010 a0004c0012 a0004c0018 a0004c0021 a0008c0030 a0008c0032 a0011c0022	a0001c0005t0001 a0001c0005t0002 a0001c0009t0001 others(12): Show a0001c0005t0001 a0001c0005t0002 a0001c0009t0001 a0001c0020t0001 a0001c0024t0001 a0001c0025t0001 a0002c0017t0001 a0003c0010t0001 a0004c0012t0001 a0004c0012t0005 a0004c0018t0001 a0004c0021t0001 a0008c0030t0001 a0008c0032t0001 a0011c0022t0001	a0001c0005t0001g0018 a0001c0005t0001g0043 a0001c0005t0001g0126 others(34): Show a0001c0005t0001g0018 a0001c0005t0001g0043 a0001c0005t0001g0126 a0001c0005t0001g0166 a0001c0005t0001g0167 a0001c0005t0001g0168 a0001c0005t0001g0228 a0001c0005t0001g0251 a0001c0005t0001g0264 a0001c0005t0001g0265 a0001c0005t0002g0094 a0001c0005t0002g0150 a0001c0005t0002g0269 a0001c0009t0001g0003 a0001c0009t0001g0009 a0001c0009t0001g0034 a0001c0009t0001g0036 a0001c0009t0001g0049 a0001c0009t0001g0064 a0001c0009t0001g0200 a0001c0009t0001g0259 a0001c0009t0001g0267 a0001c0020t0001g0266 a0001c0024t0001g0011 a0001c0025t0001g0121 a0002c0017t0001g0065 a0002c0017t0001g0164 a0003c0010t0001g0042 a0003c0010t0001g0145 a0004c0012t0001g0211 a0004c0012t0001g0257 a0004c0012t0005g0212 a0004c0018t0001g0002 a0004c0021t0001g0066 a0008c0030t0001g0293 a0008c0032t0001g0292 a0011c0022t0001g0052	37	304	0.1217	7	c.109 others(26): Show c.1092-1198_1092-1192dupAAAAAAA	ARSG	ENSG00000141337.13	transcript	ENST00000621439.5	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
ARSH_chrX_3001546_3039111	3012568	A A	AAATATAT AAATATAT	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	248	0.0040	7	c.215 others(22): Show c.215-478_215-477insATATATA	ARSH	ENSG00000205667.3	transcript	ENST00000381130.3	protein_coding	2/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
ARSH_chrX_3001546_3039111	3012568	A A	ATATATAT ATATATAT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	248	0.0040	7	c.215 others(22): Show c.215-479_215-478insTATATAT	ARSH	ENSG00000205667.3	transcript	ENST00000381130.3	protein_coding	2/8			chrX	TogoVar
ARSH_chrX_3001546_3039111	3012605	T T	TATATATA TATATATA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG03209.hp1 HG03669.hp1 others(4): Show HG01175.hp2 HG03209.hp1 HG03669.hp1 NA18971.hp1 NA18975.hp1 NA19030.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0002 a0001c0001t0001g0107 a0001c0001t0001g0158 others(3): Show a0001c0001t0001g0002 a0001c0001t0001g0107 a0001c0001t0001g0158 a0001c0001t0001g0168 a0001c0001t0001g0184 a0001c0001t0003g0095	7	248	0.0282	7	c.215 others(22): Show c.215-438_215-437insATAATAT	ARSH	ENSG00000205667.3	transcript	ENST00000381130.3	protein_coding	2/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
ARSH_chrX_3001546_3039111	3020274	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03579.hp1 HG02572.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0093 a0001c0002t0006g0094 a0001c0002t0006g0093 a0001c0002t0006g0094	2	248	0.0081	7	c.901 others(24): Show c.901+1629_901+1635dupAAAAAAA	ARSH	ENSG00000205667.3	transcript	ENST00000381130.3	protein_coding	5/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
ARSH_chrX_3001546_3039111	3036738	A A	AATATTAT AATATTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0001 a0008c0009t0001	a0008c0009t0001g0203 a0008c0009t0001g0203	1	248	0.0040	7	c.33 others(18): Show c.3353_*3354insATATTAT	ARSH	ENSG00000205667.3	transcript	ENST00000381130.3	protein_coding		2628		chrX	TogoVar
ARSH_chrX_3001546_3039111	3037077	A A	ATATATAT ATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG02451.hp1 HG02922.hp1 HG01884.hp2 HG02451.hp1 HG02922.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0219 a0001c0007t0002g0220 a0001c0007t0002g0228 a0001c0007t0002g0219 a0001c0007t0002g0220 a0001c0007t0002g0228	3	248	0.0121	7	c.36 others(18): Show c.3692_*3693insTATATAT	ARSH	ENSG00000205667.3	transcript	ENST00000381130.3	protein_coding		2967		chrX	TogoVar
ARSL_chrX_2929521_2969341	2933615	G G	GCAATGAC GCAATGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	328	0.0031	7	c.12 others(18): Show c.1216_*1217insGTCATTG	ARSL	ENSG00000157399.17	transcript	ENST00000381134.9	protein_coding		905		chrX	TogoVar
ART1_chr11_3640128_3669416	3663076	A A	ATCTCATC ATCTCATC	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02080.hp2 HG03139.hp1 others(9): Show HG02015.hp2 HG02080.hp2 HG03139.hp1 HG03239.hp2 HG04184.hp1 HG06807.hp2 NA18943.hp1 NA18960.hp2 NA18989.hp1 NA19070.hp2 NA19076.hp2 NA20300.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0001 a0001c0001t0007 a0005c0006t0001 a0001c0001t0001 a0001c0001t0007 a0005c0006t0001	a0001c0001t0001g0028 a0001c0001t0001g0076 a0001c0001t0001g0134 others(9): Show a0001c0001t0001g0028 a0001c0001t0001g0076 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0160 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0007g0079 a0005c0006t0001g0028	12	394	0.0305	7	c.887 others(24): Show c.887-1014_887-1013insTCATCTC	ART1	ENSG00000129744.3	transcript	ENST00000250693.2	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
ART1_chr11_3640128_3669416	3663089	A A	ATCTCATC ATCTCATC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02818.hp2 HG03579.hp2 HG02615.hp2 HG02818.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0078 a0001c0001t0001g0024 a0001c0001t0001g0078	3	394	0.0076	7	c.887 others(24): Show c.887-1001_887-1000insTCATCTC	ART1	ENSG00000129744.3	transcript	ENST00000250693.2	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
ARX_chrX_24998694_25020965	25012399	C C	CACTGCGA CACTGCGA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0095 a0001c0001t0003g0095	1	300	0.0033	7	c.107 others(24): Show c.1073+516_1073+522dupTCGCAGT	ARX	ENSG00000004848.8	transcript	ENST00000379044.5	protein_coding	2/4			chrX	TogoVar
ARX_chrX_24998694_25020965	25018970	T T	TAGTACCC TAGTACCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	300	0.0033	7	c.-32 others(18): Show c.-3234_-3233insGGGTACT	ARX	ENSG00000004848.8	transcript	ENST00000379044.5	protein_coding		3006		chrX	TogoVar
AR_chrX_67539021_67735619	67624904	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0025 a0025	a0025c0049 a0025c0049	a0025c0049t0052 a0025c0049t0052	a0025c0049t0052g0009 a0025c0049t0052g0009	1	193	0.0052	7	c.161 others(28): Show c.1617-18328_1617-18322dupAAAAAAA	AR	ENSG00000169083.18	transcript	ENST00000374690.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
AS3MT_chr10_102864470_102906899	102888877	A A	ATTTTTTT ATTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02818.hp2 HG03139.hp2 others(4): Show HG02258.hp2 HG02818.hp2 HG03139.hp2 HG03516.hp1 NA18947.hp1 NA18973.hp1 NA19078.hp2	a0001 a0001	a0001c0002 a0001c0007 a0001c0002 a0001c0007	a0001c0002t0004 a0001c0007t0004 a0001c0002t0004 a0001c0007t0004	a0001c0002t0004g0018 a0001c0002t0004g0019 a0001c0002t0004g0023 others(4): Show a0001c0002t0004g0018 a0001c0002t0004g0019 a0001c0002t0004g0023 a0001c0002t0004g0024 a0001c0002t0004g0025 a0001c0002t0004g0041 a0001c0007t0004g0020	7	362	0.0193	7	c.886 others(24): Show c.886-1666_886-1665insTTTTTTT	AS3MT	ENSG00000214435.9	transcript	ENST00000369880.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
ASAP1_chr8_130047104_130448674	130070998	A A	AGGGGAGG AGGGGAGG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02717.hp2 HG03041.hp2 HG02622.hp2 HG02717.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0172 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0172	3	308	0.0097	7	c.270 others(26): Show c.2701+5349_2701+5350insCCTCCCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130071003	G G	GAGAGAGA GAGAGAGA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02717.hp2 HG03471.hp1 others(2): Show HG02647.hp2 HG02717.hp2 HG03471.hp1 NA18522.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0172 a0001c0001t0001g0215 others(2): Show a0001c0001t0001g0155 a0001c0001t0001g0172 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0272	5	308	0.0162	7	c.270 others(26): Show c.2701+5344_2701+5345insTCTCTCT	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130093666	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02071.hp2 HG02080.hp1 others(6): Show HG00621.hp1 HG02071.hp2 HG02080.hp1 NA18747.hp1 NA18960.hp2 NA18963.hp2 NA18964.hp1 NA18990.hp1 NA19074.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0015 a0002c0002t0023 a0002c0002t0003 a0002c0002t0015 a0002c0002t0023	a0002c0002t0003g0120 a0002c0002t0003g0123 a0002c0002t0003g0126 others(6): Show a0002c0002t0003g0120 a0002c0002t0003g0123 a0002c0002t0003g0126 a0002c0002t0003g0128 a0002c0002t0003g0134 a0002c0002t0003g0237 a0002c0002t0003g0238 a0002c0002t0015g0239 a0002c0002t0023g0124	9	308	0.0292	7	c.240 others(26): Show c.2402-1530_2402-1524dupTTTTTTT	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	24/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130101732	A A	ATTTTTTT ATTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00597.hp2 HG00609.hp1 others(41): Show HG00544.hp1 HG00597.hp2 HG00609.hp1 HG00642.hp1 HG00738.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01978.hp1 HG02004.hp1 HG02040.hp1 HG02080.hp2 HG02083.hp1 HG02165.hp2 HG02280.hp2 HG02300.hp2 HG02451.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02922.hp2 HG02965.hp2 HG04228.hp1 NA18747.hp1 NA18906.hp2 NA18945.hp1 NA18948.hp2 NA18955.hp1 NA18957.hp1 NA18962.hp2 NA18985.hp1 NA19000.hp2 NA19001.hp2 NA19030.hp2 NA19063.hp2 NA19065.hp1 NA19074.hp1 NA19087.hp2 NA19090.hp2 NA19091.hp2 NA20129.hp2 NA20752.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0003 others(1): Show a0001c0001 a0002c0002 a0002c0003 a0002c0011	a0001c0001t0018 a0002c0002t0001 a0002c0002t0002 others(6): Show a0001c0001t0018 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0006 a0002c0002t0022 a0002c0003t0001 a0002c0003t0010 a0002c0011t0001	a0001c0001t0018g0294 a0002c0002t0001g0009 a0002c0002t0001g0014 others(41): Show a0001c0001t0018g0294 a0002c0002t0001g0009 a0002c0002t0001g0014 a0002c0002t0001g0060 a0002c0002t0001g0063 a0002c0002t0001g0067 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0073 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0096 a0002c0002t0001g0100 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0147 a0002c0002t0001g0200 a0002c0002t0001g0234 a0002c0002t0001g0240 a0002c0002t0001g0269 a0002c0002t0002g0033 a0002c0002t0002g0270 a0002c0002t0003g0121 a0002c0002t0003g0238 a0002c0002t0006g0303 a0002c0002t0006g0304 a0002c0002t0006g0305 a0002c0002t0006g0306 a0002c0002t0006g0307 a0002c0002t0022g0242 a0002c0003t0001g0019 a0002c0003t0001g0025 a0002c0003t0001g0026 a0002c0003t0001g0029 a0002c0003t0001g0030 a0002c0003t0001g0031 a0002c0003t0001g0032 a0002c0003t0010g0018 a0002c0011t0001g0074	44	308	0.1429	7	c.240 others(26): Show c.2402-9596_2402-9590dupAAAAAAA	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	24/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130188739	A A	AAAAAAAG AAAAAAAG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00738.hp2 HG01256.hp1 others(8): Show HG00423.hp2 HG00738.hp2 HG01256.hp1 HG02004.hp1 HG02040.hp1 HG02280.hp1 HG02300.hp2 NA18906.hp2 NA18985.hp1 NA19010.hp2 NA19074.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0010 a0002c0003t0001 a0002c0003t0010	a0002c0003t0001g0019 a0002c0003t0001g0022 a0002c0003t0001g0023 others(8): Show a0002c0003t0001g0019 a0002c0003t0001g0022 a0002c0003t0001g0023 a0002c0003t0001g0025 a0002c0003t0001g0026 a0002c0003t0001g0028 a0002c0003t0001g0029 a0002c0003t0001g0030 a0002c0003t0001g0031 a0002c0003t0001g0032 a0002c0003t0010g0018	11	308	0.0357	7	c.406 others(22): Show c.406-563_406-557dupCTTTTTT	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	5/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130406255	T T	TTCATTCA TTCATTCA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00642.hp2 HG01074.hp2 others(80): Show HG00099.hp2 HG00642.hp2 HG01074.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01358.hp2 HG01361.hp2 HG01515.hp1 HG01517.hp2 HG01891.hp1 HG01943.hp1 HG01975.hp1 HG01978.hp1 HG02055.hp2 HG02109.hp2 HG02258.hp2 HG02280.hp2 HG02293.hp1 HG02451.hp1 HG02559.hp1 HG02572.hp2 HG02622.hp1 HG02723.hp2 HG02738.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG03017.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG04184.hp2 HG06807.hp1 NA18522.hp1 NA18906.hp1 NA18943.hp1 NA18946.hp2 NA18947.hp2 NA18969.hp1 NA18973.hp1 NA18975.hp1 NA18982.hp2 NA18984.hp2 NA18985.hp2 NA19001.hp1 NA19002.hp1 NA19007.hp2 NA19011.hp2 NA19043.hp2 NA19063.hp1 NA19070.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0005 others(6): Show a0001c0001 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0013 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0021 a0001c0001t0025 a0001c0001t0028 a0001c0001t0030 a0001c0001t0032 a0001c0004t0002 a0001c0005t0005 a0001c0005t0007 a0001c0006t0005 a0001c0007t0001 a0001c0007t0007 a0001c0008t0001 a0001c0009t0001 a0001c0013t0001 a0002c0002t0001 a0002c0002t0006 a0002c0002t0010 a0002c0002t0013 a0002c0002t0022 a0002c0002t0026 a0002c0002t0029	a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0038 others(80): Show a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0091 a0001c0001t0001g0097 a0001c0001t0001g0102 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0260 a0001c0001t0001g0278 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0002g0044 a0001c0001t0002g0089 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0008g0040 a0001c0001t0010g0043 a0001c0001t0011g0045 a0001c0001t0013g0302 a0001c0001t0014g0049 a0001c0001t0014g0153 a0001c0001t0021g0263 a0001c0001t0025g0279 a0001c0001t0028g0088 a0001c0001t0030g0046 a0001c0001t0032g0297 a0001c0004t0002g0151 a0001c0005t0005g0285 a0001c0005t0007g0002 a0001c0005t0007g0003 a0001c0006t0005g0288 a0001c0006t0005g0292 a0001c0006t0005g0293 a0001c0007t0001g0037 a0001c0007t0007g0001 a0001c0008t0001g0244 a0001c0009t0001g0232 a0001c0013t0001g0156 a0002c0002t0001g0009 a0002c0002t0001g0066 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0090 a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0002t0001g0094 a0002c0002t0001g0096 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0103 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0144 a0002c0002t0001g0145 a0002c0002t0001g0276 a0002c0002t0006g0303 a0002c0002t0006g0304 a0002c0002t0006g0305 a0002c0002t0006g0306 a0002c0002t0006g0307 a0002c0002t0010g0050 a0002c0002t0013g0301 a0002c0002t0022g0242 a0002c0002t0026g0062 a0002c0002t0029g0095	83	308	0.2695	7	c.-27 others(24): Show c.-27-4292_-27-4286dupTGAATGA	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	1/29			chr8	TogoVar
ASAP2_chr2_9201812_9410678	9254527	A A	ATTTTTTT ATTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01175.hp2 HG02486.hp2 others(4): Show HG00597.hp2 HG01175.hp2 HG02486.hp2 HG02818.hp2 NA19011.hp2 NA19030.hp2 NA19065.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0007 a0001c0002 a0001c0003 a0001c0007	a0001c0002t0003 a0001c0003t0001 a0001c0003t0006 others(2): Show a0001c0002t0003 a0001c0003t0001 a0001c0003t0006 a0001c0007t0001 a0001c0007t0004	a0001c0002t0003g0166 a0001c0003t0001g0153 a0001c0003t0006g0104 others(4): Show a0001c0002t0003g0166 a0001c0003t0001g0153 a0001c0003t0006g0104 a0001c0003t0006g0105 a0001c0003t0006g0158 a0001c0007t0001g0030 a0001c0007t0004g0154	7	210	0.0333	7	c.127 others(26): Show c.127-24770_127-24764dupTTTTTTT	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASAP2_chr2_9201812_9410678	9275082	G G	GTTTTTTT GTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00438.hp1 others(10): Show HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00609.hp1 HG02735.hp2 HG02818.hp1 HG02976.hp1 HG03453.hp2 NA18612.hp2 NA18953.hp2 NA19030.hp2 NA19043.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0004 others(2): Show a0001c0002 a0001c0003 a0001c0004 a0002c0001 a0002c0008	a0001c0002t0008 a0001c0003t0001 a0001c0003t0006 others(3): Show a0001c0002t0008 a0001c0003t0001 a0001c0003t0006 a0001c0004t0005 a0002c0001t0001 a0002c0008t0001	a0001c0002t0008g0048 a0001c0003t0001g0029 a0001c0003t0001g0046 others(10): Show a0001c0002t0008g0048 a0001c0003t0001g0029 a0001c0003t0001g0046 a0001c0003t0001g0153 a0001c0003t0006g0006 a0001c0003t0006g0064 a0001c0003t0006g0065 a0001c0003t0006g0102 a0001c0003t0006g0135 a0001c0004t0005g0035 a0002c0001t0001g0022 a0002c0001t0001g0067 a0002c0008t0001g0108	13	210	0.0619	7	c.127 others(24): Show c.127-4225_127-4219dupTTTTTTT	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASAP2_chr2_9201812_9410678	9387213	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01109.hp1 HG01884.hp1 others(11): Show HG01070.hp1 HG01109.hp1 HG01884.hp1 HG01891.hp2 HG02258.hp1 HG02451.hp1 HG02486.hp2 HG02630.hp1 HG02630.hp2 HG02922.hp1 HG03098.hp2 HG03225.hp2 NA18906.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0006 a0001c0007 a0001c0002 a0001c0006 a0001c0007	a0001c0002t0001 a0001c0002t0003 a0001c0006t0004 others(1): Show a0001c0002t0001 a0001c0002t0003 a0001c0006t0004 a0001c0007t0004	a0001c0002t0001g0024 a0001c0002t0001g0133 a0001c0002t0003g0148 others(11): Show a0001c0002t0001g0024 a0001c0002t0001g0133 a0001c0002t0003g0148 a0001c0006t0004g0014 a0001c0006t0004g0018 a0001c0006t0004g0032 a0001c0006t0004g0189 a0001c0006t0004g0197 a0001c0006t0004g0204 a0001c0007t0004g0015 a0001c0007t0004g0019 a0001c0007t0004g0037 a0001c0007t0004g0154 a0001c0007t0004g0203	14	210	0.0667	7	c.213 others(26): Show c.2131-1073_2131-1067dupAAAAAAA	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASB11_chrX_15276697_15320640	15278635	C C	CAAAAAAA CAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02615.hp2 HG02818.hp2 HG02451.hp2 HG02615.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0102 a0001c0001t0009g0103 a0001c0001t0009g0129 a0001c0001t0009g0102 a0001c0001t0009g0103 a0001c0001t0009g0129	3	306	0.0098	7	c.48 others(18): Show c.4869_*4870insTTTTTTT	ASB11	ENSG00000165192.14	transcript	ENST00000480796.6	protein_coding		3061		chrX	TogoVar
ASB11_chrX_15276697_15320640	15309967	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02280.hp2 HG02451.hp2 others(3): Show HG00741.hp1 HG02280.hp2 HG02451.hp2 HG02897.hp1 HG02976.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 a0001c0001t0001 a0001c0001t0005 a0001c0001t0009	a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 others(3): Show a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0005g0135 a0001c0001t0009g0129	6	306	0.0196	7	c.181 others(24): Show c.181+5451_181+5457dupTTTTTTT	ASB11	ENSG00000165192.14	transcript	ENST00000480796.6	protein_coding	1/6			chrX	TogoVar
ASB11_chrX_15276697_15320640	15312417	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02615.hp2 HG02818.hp2 others(1): Show HG02280.hp1 HG02615.hp2 HG02818.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0101 a0001c0001t0009g0102 a0001c0001t0009g0103 others(1): Show a0001c0001t0009g0101 a0001c0001t0009g0102 a0001c0001t0009g0103 a0001c0001t0009g0104	4	306	0.0131	7	c.181 others(24): Show c.181+3001_181+3007dupTTTTTTT	ASB11	ENSG00000165192.14	transcript	ENST00000480796.6	protein_coding	1/6			chrX	TogoVar
ASB11_chrX_15276697_15320640	15316407	C C	CAAAAAAA CAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00438.hp2 HG00642.hp1 others(70): Show HG00323.hp2 HG00438.hp2 HG00642.hp1 HG00673.hp1 HG01070.hp1 HG01071.hp1 HG01123.hp2 HG01175.hp1 HG01175.hp2 HG01256.hp1 HG01257.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02083.hp1 HG02129.hp1 HG02135.hp1 HG02148.hp1 HG02257.hp1 HG02451.hp1 HG02523.hp2 HG02602.hp1 HG02717.hp1 HG02735.hp1 HG02738.hp1 HG03130.hp1 HG03491.hp2 HG03654.hp1 HG03669.hp2 HG03704.hp1 HG03710.hp1 HG03834.hp2 HG03942.hp1 HG04199.hp1 HG04204.hp1 NA18906.hp2 NA18943.hp1 NA18945.hp1 NA18954.hp2 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18968.hp2 NA18980.hp2 NA18982.hp1 NA18984.hp1 NA18986.hp1 NA18988.hp1 NA18993.hp2 NA19001.hp1 NA19003.hp2 NA19009.hp1 NA19011.hp2 NA19057.hp2 NA19062.hp1 NA19063.hp1 NA19064.hp1 NA19074.hp1 NA19080.hp2 NA19081.hp2 NA19087.hp2 NA19088.hp1 NA19089.hp1 NA19091.hp1 NA20300.hp1 NA21309.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0005c0006t0010	a0001c0001t0001g0039 a0001c0001t0001g0061 a0001c0001t0001g0071 others(64): Show a0001c0001t0001g0039 a0001c0001t0001g0061 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0002g0003 a0001c0001t0002g0006 a0001c0001t0002g0009 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0033 a0001c0001t0002g0035 a0001c0001t0002g0037 a0001c0001t0002g0040 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0047 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0059 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0069 a0001c0001t0002g0074 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0091 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0100 a0001c0001t0003g0009 a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0026 a0001c0001t0003g0034 a0001c0001t0003g0036 a0001c0001t0003g0072 a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0003g0086 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0003g0090 a0001c0001t0003g0092 a0001c0001t0003g0098 a0001c0001t0005g0038 a0001c0001t0010g0041 a0001c0001t0010g0064 a0001c0001t0012g0068 a0001c0001t0012g0070 a0001c0001t0014g0028 a0001c0001t0026g0083 a0001c0001t0027g0046 a0001c0001t0028g0048 a0005c0006t0010g0058	73	306	0.2386	7	c.-80 others(16): Show c.-803_-802insTTTTTTT	ASB11	ENSG00000165192.14	transcript	ENST00000480796.6	protein_coding		768		chrX	TogoVar
ASB13_chr10_5633867_5671595	5652026	C C	CACACACA CACACACA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02083.hp1 HG02486.hp2 others(12): Show HG01243.hp2 HG02083.hp1 HG02486.hp2 HG02572.hp2 HG02897.hp2 HG03098.hp2 NA18939.hp2 NA18946.hp1 NA18960.hp2 NA18980.hp2 NA18998.hp2 NA19001.hp2 NA19007.hp2 NA19078.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0006 a0001c0001t0013 others(4): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0013 a0001c0001t0018 a0001c0001t0022 a0001c0004t0015 a0001c0004t0019	a0001c0001t0001g0230 a0001c0001t0001g0313 a0001c0001t0006g0123 others(11): Show a0001c0001t0001g0230 a0001c0001t0001g0313 a0001c0001t0006g0123 a0001c0001t0006g0303 a0001c0001t0006g0304 a0001c0001t0006g0305 a0001c0001t0006g0318 a0001c0001t0006g0333 a0001c0001t0013g0250 a0001c0001t0018g0119 a0001c0001t0022g0107 a0001c0004t0015g0112 a0001c0004t0015g0113 a0001c0004t0019g0003	15	446	0.0336	7	c.232 others(22): Show c.232-664_232-663insTGTGTGT	ASB13	ENSG00000196372.13	transcript	ENST00000357700.11	protein_coding	2/5			chr10	TogoVar
ASB13_chr10_5633867_5671595	5667422	A A	ACCTGTTT ACCTGTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00639.hp2 HG01123.hp2 others(1): Show HG00140.hp1 HG00639.hp2 HG01123.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0282 a0001c0001t0003g0288 a0001c0001t0003g0299 others(1): Show a0001c0001t0003g0282 a0001c0001t0003g0288 a0001c0001t0003g0299 a0001c0001t0003g0309	4	446	0.0090	7	c.-87 others(16): Show c.-872_-871insAAACAGG	ASB13	ENSG00000196372.13	transcript	ENST00000357700.11	protein_coding		828		chr10	TogoVar
ASB18_chr2_236188459_236269406	236217424	A A	AAAATAAT AAAATAAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02818.hp1 HG02895.hp2 others(6): Show HG02451.hp2 HG02818.hp1 HG02895.hp2 HG02897.hp2 HG03579.hp2 HG06807.hp2 NA19240.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0011 a0001 a0003 a0011	a0001c0003 a0001c0008 a0003c0004 others(2): Show a0001c0003 a0001c0008 a0003c0004 a0003c0015 a0011c0023	a0001c0003t0006 a0001c0008t0003 a0003c0004t0004 others(2): Show a0001c0003t0006 a0001c0008t0003 a0003c0004t0004 a0003c0015t0019 a0011c0023t0001	a0001c0003t0006g0218 a0001c0008t0003g0003 a0001c0008t0003g0077 others(5): Show a0001c0003t0006g0218 a0001c0008t0003g0003 a0001c0008t0003g0077 a0001c0008t0003g0078 a0001c0008t0003g0229 a0003c0004t0004g0016 a0003c0015t0019g0008 a0011c0023t0001g0076	9	250	0.0360	7	c.597 others(24): Show c.597-2559_597-2558insATTATTT	ASB18	ENSG00000182177.15	transcript	ENST00000409749.8	protein_coding	3/5			chr2	TogoVar
ASB18_chr2_236188459_236269406	236217424	A A	AAATAAAT AAATAAAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02109.hp2 HG02145.hp1 others(13): Show HG02055.hp2 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02572.hp2 HG02622.hp1 HG02818.hp2 HG02896.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03486.hp2 NA18906.hp2 NA18978.hp1 NA20752.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0003 a0001c0007 others(4): Show a0001c0001 a0001c0003 a0001c0007 a0001c0022 a0002c0005 a0002c0011 a0006c0014	a0001c0001t0001 a0001c0003t0002 a0001c0003t0006 others(6): Show a0001c0001t0001 a0001c0003t0002 a0001c0003t0006 a0001c0007t0007 a0001c0022t0022 a0002c0005t0002 a0002c0005t0006 a0002c0011t0002 a0006c0014t0008	a0001c0001t0001g0188 a0001c0003t0002g0050 a0001c0003t0006g0075 others(11): Show a0001c0001t0001g0188 a0001c0003t0002g0050 a0001c0003t0006g0075 a0001c0007t0007g0001 a0001c0007t0007g0129 a0001c0007t0007g0235 a0001c0007t0007g0236 a0001c0007t0007g0237 a0001c0022t0022g0034 a0002c0005t0002g0084 a0002c0005t0006g0017 a0002c0005t0006g0018 a0002c0011t0002g0118 a0006c0014t0008g0025	16	250	0.0640	7	c.597 others(24): Show c.597-2559_597-2558insATTTATT	ASB18	ENSG00000182177.15	transcript	ENST00000409749.8	protein_coding	3/5			chr2	TogoVar
ASB18_chr2_236188459_236269406	236217424	A A	ATAATAAT ATAATAAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00597.hp2 others(28): Show HG00280.hp2 HG00323.hp1 HG00597.hp2 HG00642.hp1 HG00738.hp1 HG01069.hp2 HG01099.hp1 HG01175.hp1 HG01192.hp2 HG01255.hp1 HG01261.hp2 HG01978.hp1 HG02055.hp1 HG02257.hp2 HG02451.hp1 HG02559.hp1 HG02683.hp2 HG02738.hp1 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG03098.hp1 HG03239.hp1 HG03453.hp1 HG03471.hp2 HG03516.hp2 HG04199.hp2 NA18946.hp1 NA19074.hp1 NA20300.hp1 NA20905.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0001c0003 a0002c0002 others(2): Show a0001c0001 a0001c0003 a0002c0002 a0003c0004 a0006c0021	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0003t0015 a0002c0002t0006 a0003c0004t0004 a0006c0021t0021	a0001c0001t0001g0014 a0001c0001t0001g0042 a0001c0001t0001g0064 others(28): Show a0001c0001t0001g0014 a0001c0001t0001g0042 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0125 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0210 a0001c0001t0001g0223 a0001c0001t0001g0226 a0001c0001t0001g0233 a0001c0001t0002g0227 a0001c0003t0001g0105 a0001c0003t0001g0112 a0001c0003t0001g0113 a0001c0003t0001g0116 a0001c0003t0015g0122 a0002c0002t0006g0020 a0002c0002t0006g0021 a0002c0002t0006g0067 a0003c0004t0004g0114 a0003c0004t0004g0115 a0003c0004t0004g0117 a0003c0004t0004g0131 a0003c0004t0004g0144 a0003c0004t0004g0175 a0003c0004t0004g0194 a0003c0004t0004g0195 a0003c0004t0004g0196 a0006c0021t0021g0214	31	250	0.1240	7	c.597 others(24): Show c.597-2559_597-2558insATTATTA	ASB18	ENSG00000182177.15	transcript	ENST00000409749.8	protein_coding	3/5			chr2	TogoVar
ASB1_chr2_238421927_238457250	238438199	A A	ATTTTTTT ATTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01243.hp1 HG01884.hp2 others(29): Show HG01069.hp1 HG01243.hp1 HG01884.hp2 HG02040.hp1 HG02523.hp1 HG02615.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02723.hp2 HG02897.hp2 HG02970.hp1 HG03195.hp1 HG03225.hp1 HG03540.hp2 HG03579.hp1 HG03834.hp1 NA18946.hp2 NA18954.hp2 NA18961.hp2 NA18967.hp2 NA18978.hp1 NA18979.hp2 NA18981.hp2 NA18990.hp2 NA18999.hp1 NA19003.hp2 NA19074.hp1 NA19075.hp2 NA19078.hp1 NA20129.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0002 a0001c0001t0003 a0001c0002t0005 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0002t0005 a0001c0002t0022 a0001c0002t0050 a0001c0002t0051 a0001c0004t0006	a0001c0001t0002g0068 a0001c0001t0003g0122 a0001c0001t0003g0137 others(20): Show a0001c0001t0002g0068 a0001c0001t0003g0122 a0001c0001t0003g0137 a0001c0001t0003g0138 a0001c0002t0005g0016 a0001c0002t0005g0026 a0001c0002t0005g0040 a0001c0002t0005g0041 a0001c0002t0005g0042 a0001c0002t0005g0043 a0001c0002t0005g0168 a0001c0002t0005g0172 a0001c0002t0005g0176 a0001c0002t0005g0177 a0001c0002t0005g0178 a0001c0002t0005g0181 a0001c0002t0005g0183 a0001c0002t0005g0184 a0001c0002t0022g0170 a0001c0002t0022g0171 a0001c0002t0050g0174 a0001c0002t0051g0173 a0001c0004t0006g0152	32	416	0.0769	7	c.494 others(24): Show c.494+2198_494+2204dupTTTTTTT	ASB1	ENSG00000065802.12	transcript	ENST00000264607.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASB2_chr14_93929166_93981570	93938233	C C	CTTTTTTT CTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00609.hp2 HG00735.hp2 others(34): Show HG00558.hp1 HG00609.hp2 HG00735.hp2 HG01070.hp1 HG01071.hp1 HG01099.hp2 HG02129.hp1 HG02135.hp2 HG02148.hp1 HG02523.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02922.hp1 HG02965.hp2 HG02976.hp1 HG03225.hp2 HG03579.hp1 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 NA18943.hp2 NA18945.hp1 NA18955.hp2 NA18960.hp1 NA18967.hp1 NA18995.hp1 NA19005.hp2 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19068.hp2 NA19087.hp1 NA19090.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0002t0004 a0001c0001t0002 a0001c0002t0002 a0001c0002t0004	a0001c0001t0002g0012 a0001c0001t0002g0080 a0001c0001t0002g0082 others(32): Show a0001c0001t0002g0012 a0001c0001t0002g0080 a0001c0001t0002g0082 a0001c0001t0002g0126 a0001c0001t0002g0133 a0001c0001t0002g0148 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0203 a0001c0001t0002g0214 a0001c0001t0002g0225 a0001c0001t0002g0229 a0001c0001t0002g0236 a0001c0001t0002g0248 a0001c0001t0002g0269 a0001c0001t0002g0271 a0001c0001t0002g0283 a0001c0001t0002g0324 a0001c0002t0002g0016 a0001c0002t0002g0028 a0001c0002t0002g0045 a0001c0002t0002g0051 a0001c0002t0002g0061 a0001c0002t0002g0094 a0001c0002t0002g0162 a0001c0002t0002g0201 a0001c0002t0002g0220 a0001c0002t0002g0300 a0001c0002t0002g0307 a0001c0002t0002g0309 a0001c0002t0002g0314 a0001c0002t0002g0328 a0001c0002t0002g0345 a0001c0002t0002g0346 a0001c0002t0004g0344	37	373	0.0992	7	c.161 others(24): Show c.1618-389_1618-383dupAAAAAAA	ASB2	ENSG00000100628.12	transcript	ENST00000555019.6	protein_coding	8/9			chr14	TogoVar
ASB4_chr7_95480943_95545233	95530105	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01192.hp1 HG01358.hp1 others(23): Show HG00438.hp2 HG01192.hp1 HG01358.hp1 HG01433.hp1 HG01496.hp2 HG01891.hp2 HG01975.hp2 HG02280.hp2 HG02300.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02615.hp1 HG02818.hp2 HG02886.hp1 HG02922.hp1 HG02976.hp1 HG03209.hp1 HG03225.hp2 HG03486.hp2 HG04199.hp1 NA19002.hp2 NA19043.hp1 NA19068.hp1 NA19086.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0018 a0002c0002t0004	a0001c0001t0001g0097 a0001c0001t0001g0103 a0001c0001t0001g0164 others(23): Show a0001c0001t0001g0097 a0001c0001t0001g0103 a0001c0001t0001g0164 a0001c0001t0001g0230 a0001c0001t0001g0350 a0001c0001t0001g0373 a0001c0001t0004g0101 a0001c0001t0004g0107 a0001c0001t0004g0109 a0001c0001t0004g0110 a0001c0001t0004g0259 a0001c0001t0004g0261 a0001c0001t0005g0286 a0001c0001t0005g0340 a0001c0001t0007g0287 a0001c0001t0007g0339 a0001c0001t0009g0260 a0001c0001t0009g0296 a0001c0001t0010g0182 a0001c0001t0010g0185 a0001c0001t0010g0186 a0001c0001t0010g0187 a0001c0001t0010g0188 a0001c0001t0018g0288 a0002c0002t0004g0028 a0002c0002t0004g0029	26	388	0.0670	7	c.978 others(24): Show c.978+1811_978+1817dupAAAAAAA	ASB4	ENSG00000005981.13	transcript	ENST00000325885.6	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr7	TogoVar
ASB5_chr4_176208673_176274222	176251564	T T	TAAAAAAA TAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00741.hp2 HG01516.hp1 others(26): Show HG00408.hp2 HG00741.hp2 HG01516.hp1 HG01517.hp2 HG01928.hp1 HG01934.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp2 HG02129.hp1 HG02135.hp1 HG02165.hp2 HG02486.hp2 HG03688.hp1 NA18747.hp2 NA18951.hp2 NA18956.hp1 NA18971.hp2 NA18979.hp1 NA18980.hp2 NA18981.hp1 NA18984.hp2 NA19007.hp1 NA19054.hp2 NA19056.hp1 NA19062.hp1 NA19065.hp2 NA19080.hp1 NA19084.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0011 a0001c0001 a0007c0011	a0001c0001t0001 a0001c0001t0019 a0007c0011t0001 a0001c0001t0001 a0001c0001t0019 a0007c0011t0001	a0001c0001t0001g0002 a0001c0001t0001g0016 a0001c0001t0001g0098 others(23): Show a0001c0001t0001g0002 a0001c0001t0001g0016 a0001c0001t0001g0098 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0153 a0001c0001t0001g0198 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0230 a0001c0001t0001g0245 a0001c0001t0001g0309 a0001c0001t0001g0363 a0001c0001t0019g0213 a0007c0011t0001g0152	29	410	0.0707	7	c.196 others(26): Show c.196+17342_196+17348dupTTTTTTT	ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	1/6			chr4	TogoVar
ASB7_chr15_100597589_100656701	100622200	C C	CAAAAAGA CAAAAAGA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(97): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00558.hp1 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00642.hp1 HG00673.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01123.hp2 HG01168.hp1 HG01175.hp2 HG01257.hp2 HG01258.hp2 HG01515.hp1 HG01517.hp2 HG01952.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02071.hp2 HG02083.hp1 HG02135.hp1 HG02148.hp1 HG02293.hp2 HG02451.hp2 HG02559.hp1 HG02615.hp2 HG02630.hp1 HG02698.hp1 HG02723.hp2 HG02735.hp1 HG02818.hp2 HG02886.hp2 HG03017.hp2 HG03041.hp1 HG03225.hp1 HG03239.hp2 HG03471.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03927.hp1 HG04115.hp1 HG04115.hp2 HG04204.hp1 HG04228.hp2 NA18747.hp2 NA18906.hp2 NA18940.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp2 NA18965.hp1 NA18966.hp2 NA18971.hp1 NA18977.hp1 NA18981.hp1 NA18982.hp1 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18991.hp1 NA18993.hp1 NA19002.hp2 NA19010.hp2 NA19057.hp1 NA19063.hp2 NA19068.hp2 NA19074.hp2 NA19085.hp1 NA19087.hp2 NA19091.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0006 others(1): Show a0001c0001 a0001c0005 a0001c0006 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0012 a0001c0001t0013 a0001c0001t0017 a0001c0001t0018 a0001c0001t0021 a0001c0001t0022 a0001c0001t0026 a0001c0005t0003 a0001c0005t0005 a0001c0006t0002 a0001c0008t0002	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(83): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0057 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0082 a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0189 a0001c0001t0001g0203 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0249 a0001c0001t0001g0263 a0001c0001t0001g0274 a0001c0001t0001g0276 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0303 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0002g0161 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0191 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0267 a0001c0001t0002g0281 a0001c0001t0003g0001 a0001c0001t0003g0003 a0001c0001t0003g0097 a0001c0001t0003g0125 a0001c0001t0003g0160 a0001c0001t0003g0165 a0001c0001t0003g0241 a0001c0001t0003g0260 a0001c0001t0003g0262 a0001c0001t0003g0265 a0001c0001t0003g0266 a0001c0001t0003g0296 a0001c0001t0003g0297 a0001c0001t0003g0298 a0001c0001t0003g0299 a0001c0001t0005g0010 a0001c0001t0005g0033 a0001c0001t0005g0095 a0001c0001t0005g0287 a0001c0001t0005g0312 a0001c0001t0008g0170 a0001c0001t0012g0159 a0001c0001t0012g0272 a0001c0001t0013g0152 a0001c0001t0017g0321 a0001c0001t0018g0067 a0001c0001t0021g0190 a0001c0001t0022g0126 a0001c0001t0026g0264 a0001c0005t0003g0199 a0001c0005t0005g0025 a0001c0006t0002g0014 a0001c0008t0002g0311	100	368	0.2717	7	c.212 others(24): Show c.212-7224_212-7218dupGAAAAAA	ASB7	ENSG00000183475.13	transcript	ENST00000332783.12	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
ASB9_chrX_15238987_15275083	15266780	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02293.hp2 HG02615.hp1 others(6): Show HG01891.hp2 HG02293.hp2 HG02615.hp1 HG02886.hp1 HG03195.hp2 HG03453.hp2 HG06807.hp1 NA19030.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0120 a0001c0001t0006g0017 a0001c0001t0006g0045 others(5): Show a0001c0001t0002g0120 a0001c0001t0006g0017 a0001c0001t0006g0045 a0001c0001t0006g0046 a0001c0001t0006g0047 a0001c0001t0006g0048 a0001c0001t0006g0049 a0001c0001t0006g0050	9	336	0.0268	7	c.94+ others(22): Show c.94+3000_94+3001insTTTTTTT	ASB9	ENSG00000102048.16	transcript	ENST00000380488.9	protein_coding	1/6			chrX	TogoVar
ASCC1_chr10_72091032_72221276	72121531	A A	AAGAAAAG AAGAAAAG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02723.hp1 HG02809.hp1 others(5): Show HG02572.hp1 HG02723.hp1 HG02809.hp1 HG03098.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG06807.hp1	a0003 a0004 a0005 a0003 a0004 a0005	a0003c0003 a0004c0005 a0005c0004 a0003c0003 a0004c0005 a0005c0004	a0003c0003t0002 a0004c0005t0005 a0005c0004t0005 a0003c0003t0002 a0004c0005t0005 a0005c0004t0005	a0003c0003t0002g0001 a0003c0003t0002g0144 a0003c0003t0002g0153 others(5): Show a0003c0003t0002g0001 a0003c0003t0002g0144 a0003c0003t0002g0153 a0003c0003t0002g0156 a0004c0005t0005g0023 a0004c0005t0005g0161 a0005c0004t0005g0189 a0005c0004t0005g0198	8	216	0.0370	7	c.957 others(24): Show c.957+6550_957+6551insCTTTTCT	ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding	9/9			chr10	TogoVar

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