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
A3GALT2_chr1_33301766_33326098	33308750	G G	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0131 a0001c0001t0000g0131	1	418	0.0024	18	c.336 others(35): Show c.336-1315_336-1298dupAAAAAAAAAAAAAAAAAA	A3GALT2	ENSG00000184389.9	transcript	ENST00000442999.3	protein_coding	4/4			chr1	TogoVar
A4GALT_chr22_42687121_42725870	42703057	C C	CTCTGTGT others(11): Show CTCTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0245 a0001c0001t0018g0245	1	406	0.0025	18	c.-18 others(37): Show c.-187-7427_-187-7426insCACACACACACACACAGA	A4GALT	ENSG00000128274.17	transcript	ENST00000642412.2	protein_coding	1/2			chr22	TogoVar
A4GALT_chr22_42687121_42725870	42703106	C C	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01934.hp1 HG02145.hp1 others(7): Show HG00639.hp1 HG01934.hp1 HG02145.hp1 HG02572.hp1 HG02622.hp1 HG02723.hp2 HG02818.hp1 HG03579.hp2 NA20129.hp2 NA21309.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0001c0002 a0002c0003 others(3): Show a0001c0001 a0001c0002 a0002c0003 a0002c0008 a0004c0005 a0005c0006	a0001c0001t0004 a0001c0002t0021 a0002c0003t0008 others(3): Show a0001c0001t0004 a0001c0002t0021 a0002c0003t0008 a0002c0008t0001 a0004c0005t0010 a0005c0006t0001	a0001c0001t0004g0234 a0001c0001t0004g0336 a0001c0002t0021g0282 others(6): Show a0001c0001t0004g0234 a0001c0001t0004g0336 a0001c0002t0021g0282 a0002c0003t0008g0011 a0002c0008t0001g0346 a0004c0005t0010g0274 a0005c0006t0001g0005 a0005c0006t0001g0261 a0005c0006t0001g0262	10	406	0.0246	18	c.-18 others(37): Show c.-187-7493_-187-7476dupCACACACACACACACACA	A4GALT	ENSG00000128274.17	transcript	ENST00000642412.2	protein_coding	1/2			chr22	TogoVar
A4GALT_chr22_42687121_42725870	42709067	A A	ATATATAT others(11): Show ATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03704.hp2 HG03688.hp2 HG03704.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0012 a0001c0002t0003g0014 a0001c0002t0003g0012 a0001c0002t0003g0014	2	406	0.0049	18	c.-18 others(39): Show c.-188+11729_-188+11730insAAAAAATATATATATATA	A4GALT	ENSG00000128274.17	transcript	ENST00000642412.2	protein_coding	1/2			chr22	TogoVar
A4GALT_chr22_42687121_42725870	42721534	A A	AAAAAATG others(11): Show AAAAAATGAAACCATTGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0060 a0001c0002t0003g0060	1	406	0.0025	18	c.-92 others(27): Show c.-926_-925insCCCAATGGTTTCATTTTT	A4GALT	ENSG00000128274.17	transcript	ENST00000642412.2	protein_coding		665		chr22	TogoVar
AACS_chr12_125060435_125148316	125103987	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	364	0.0028	18	c.767 others(33): Show c.767+921_767+938dupAAAAAAAAAAAAAAAAAA	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
AADACL4_chr1_12639085_12672076	12658166	T T	TTCTTTCT others(11): Show TTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02109.hp1 HG02970.hp2 HG00642.hp1 HG02109.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0004 a0001c0001t0001 a0001c0002t0004	a0001c0001t0001g0037 a0001c0001t0001g0191 a0001c0002t0004g0054 a0001c0001t0001g0037 a0001c0001t0001g0191 a0001c0002t0004g0054	3	310	0.0097	18	c.386 others(35): Show c.386-3624_386-3623insCTTTCTTTCTTTCTTTCT	AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
AADAT_chr4_170055222_170094956	170056457	T T	TATATATA others(11): Show TATATATATATATATACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	378	0.0027	18	c.44 others(29): Show c.4470_*4471insGTGTATATATATATATAT	AADAT	ENSG00000109576.14	transcript	ENST00000337664.9	protein_coding		3764		chr4	TogoVar
AAGAB_chr15_67195667_67259661	67222242	G G	GCACACAC others(11): Show GCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0258 a0001c0001t0017g0258	1	380	0.0026	18	c.535 others(35): Show c.535+9554_535+9571dupTGTGTGTGTGTGTGTGTG	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	5/9			chr15	TogoVar
AAGAB_chr15_67195667_67259661	67222242	G G	GCACGCAC others(11): Show GCACGCACACACACACACA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0175 a0002c0002t0003g0175	1	380	0.0026	18	c.535 others(35): Show c.535+9571_535+9572insTGTGTGTGTGTGTGCGTG	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	5/9			chr15	TogoVar
AAGAB_chr15_67195667_67259661	67222242	G G	GCGCACAC others(11): Show GCGCACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01361.hp2 NA19055.hp2 others(1): Show HG00544.hp2 HG01361.hp2 NA19055.hp2 NA19060.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0136 a0002c0002t0003g0150 a0002c0002t0003g0153 others(1): Show a0002c0002t0003g0136 a0002c0002t0003g0150 a0002c0002t0003g0153 a0002c0002t0003g0196	4	380	0.0105	18	c.535 others(35): Show c.535+9571_535+9572insTGTGTGTGTGTGTGTGCG	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	5/9			chr15	TogoVar
AAGAB_chr15_67195667_67259661	67222242	G G	GCGCGCAC others(11): Show GCGCGCACACACACACACA	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18984.hp2 NA18949.hp2 NA18984.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0225 a0002c0002t0003g0227 a0002c0002t0003g0225 a0002c0002t0003g0227	2	380	0.0053	18	c.535 others(35): Show c.535+9571_535+9572insTGTGTGTGTGTGTGCGCG	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	5/9			chr15	TogoVar
AAGAB_chr15_67195667_67259661	67222282	A A	ACACACAC others(11): Show ACACACACACACACACACC	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01943.hp1 HG02129.hp2 others(4): Show HG01934.hp2 HG01943.hp1 HG02129.hp2 HG02148.hp2 NA18968.hp2 NA19066.hp2 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0148 a0002c0002t0003g0154 a0002c0002t0003g0178 others(4): Show a0002c0002t0003g0148 a0002c0002t0003g0154 a0002c0002t0003g0178 a0002c0002t0003g0189 a0002c0002t0003g0193 a0002c0002t0003g0207 a0002c0002t0003g0361	7	380	0.0184	18	c.535 others(35): Show c.535+9531_535+9532insGGTGTGTGTGTGTGTGTG	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	5/9			chr15	TogoVar
AAGAB_chr15_67195667_67259661	67241040	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03516.hp2 NA19077.hp1 HG03516.hp2 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0017 a0001c0001t0005 a0001c0001t0017	a0001c0001t0005g0233 a0001c0001t0017g0258 a0001c0001t0005g0233 a0001c0001t0017g0258	2	380	0.0053	18	c.74- others(33): Show c.74-4238_74-4221dupGTGTGTGTGTGTGTGTGT	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	1/9			chr15	TogoVar
AAK1_chr2_69452997_69648739	69488149	C C	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02280.hp1 HG02559.hp2 others(1): Show HG01243.hp2 HG02280.hp1 HG02559.hp2 NA19088.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0004 a0001c0001t0124 a0001c0001t0140 others(1): Show a0001c0001t0004 a0001c0001t0124 a0001c0001t0140 a0002c0005t0018	a0001c0001t0004g0233 a0001c0001t0124g0188 a0001c0001t0140g0269 others(1): Show a0001c0001t0004g0233 a0001c0001t0124g0188 a0001c0001t0140g0269 a0002c0005t0018g0064	4	298	0.0134	18	c.236 others(37): Show c.2366-5355_2366-5338dupACACACACACACACACAC	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	17/21			chr2	TogoVar
AAK1_chr2_69452997_69648739	69493158	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00544.hp1 HG00597.hp2 others(18): Show HG00099.hp1 HG00544.hp1 HG00597.hp2 HG01255.hp2 HG01257.hp1 HG01952.hp1 HG01978.hp2 HG02132.hp1 HG02293.hp2 HG02717.hp2 HG02738.hp1 HG02922.hp2 NA18943.hp1 NA18945.hp2 NA18963.hp2 NA18980.hp1 NA19002.hp2 NA19005.hp1 NA19007.hp2 NA19066.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0001c0001t0006 a0001c0001t0011 others(10): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0011 a0001c0001t0020 a0001c0001t0063 a0001c0001t0074 a0001c0001t0075 a0001c0001t0089 a0001c0001t0105 a0001c0001t0126 a0001c0001t0147 a0002c0002t0053 a0002c0002t0110	a0001c0001t0004g0221 a0001c0001t0004g0254 a0001c0001t0004g0259 others(18): Show a0001c0001t0004g0221 a0001c0001t0004g0254 a0001c0001t0004g0259 a0001c0001t0004g0261 a0001c0001t0004g0266 a0001c0001t0006g0204 a0001c0001t0006g0205 a0001c0001t0006g0225 a0001c0001t0011g0195 a0001c0001t0011g0196 a0001c0001t0011g0201 a0001c0001t0020g0202 a0001c0001t0063g0288 a0001c0001t0074g0048 a0001c0001t0075g0020 a0001c0001t0089g0122 a0001c0001t0105g0108 a0001c0001t0126g0219 a0001c0001t0147g0274 a0002c0002t0053g0056 a0002c0002t0110g0177	21	298	0.0705	18	c.236 others(37): Show c.2365+2809_2365+2826dupTTTTTTTTTTTTTTTTTT	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	17/21			chr2	TogoVar
AAK1_chr2_69452997_69648739	69500664	A A	AATAAATA others(11): Show AATAAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0019 a0002c0002t0019	a0002c0002t0019g0143 a0002c0002t0019g0143	1	298	0.0034	18	c.227 others(37): Show c.2270-4585_2270-4584insATATATATATATATTTAT	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	16/21			chr2	TogoVar
AAK1_chr2_69452997_69648739	69500664	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02083.hp2 NA18946.hp1 HG00558.hp2 HG02083.hp2 NA18946.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0002 a0006c0015 a0001c0001 a0002c0002 a0006c0015	a0001c0001t0007 a0002c0002t0003 a0006c0015t0001 a0001c0001t0007 a0002c0002t0003 a0006c0015t0001	a0001c0001t0007g0049 a0002c0002t0003g0199 a0006c0015t0001g0024 a0001c0001t0007g0049 a0002c0002t0003g0199 a0006c0015t0001g0024	3	298	0.0101	18	c.227 others(37): Show c.2270-4602_2270-4585dupATATATATATATATATAT	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	16/21			chr2	TogoVar
AAK1_chr2_69452997_69648739	69500698	T T	TATATATA others(11): Show TATATATACACACACACAC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0134 a0002c0016t0134	a0002c0016t0134g0272 a0002c0016t0134g0272	1	298	0.0034	18	c.227 others(37): Show c.2270-4619_2270-4618insGTGTGTGTGTGTATATAT	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	16/21			chr2	TogoVar
AAMDC_chr11_77816144_77877352	77852224	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp1 NA19082.hp2 NA20300.hp1 HG02257.hp1 NA19082.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0123 a0001c0001t0001g0145 a0001c0001t0001g0106 a0001c0001t0001g0123 a0001c0001t0001g0145	3	382	0.0079	18	c.132 others(35): Show c.132+9613_132+9614insAAAAAAAAAAAAAAAAAA	AAMDC	ENSG00000087884.16	transcript	ENST00000393427.7	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr11	TogoVar
AAR2_chr20_36231478_36261933	36232816	C C	CCTCTCTC others(11): Show CCTCTCTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG02818.hp2 HG01884.hp1 HG02818.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0030 a0001c0002t0004g0128 a0001c0002t0004g0030 a0001c0002t0004g0128	2	298	0.0067	18	c.-37 others(29): Show c.-3736_-3735insCTCTCTCTCTCTCTCTCT	AAR2	ENSG00000131043.13	transcript	ENST00000320849.9	protein_coding		3661		chr20	TogoVar
AAR2_chr20_36231478_36261933	36258142	T T	TACACACA others(11): Show TACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0179 a0001c0002t0001g0179	1	298	0.0034	18	c.23 others(29): Show c.2397_*2398insACACACACACACACACAC	AAR2	ENSG00000131043.13	transcript	ENST00000320849.9	protein_coding		1210		chr20	TogoVar
AARS1_chr16_70247298_70294506	70272889	G G	GACACACA others(11): Show GACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02055.hp2 HG02896.hp2 others(10): Show HG01106.hp1 HG02055.hp2 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG03139.hp1 HG03195.hp2 HG03471.hp2 HG03927.hp1 NA18906.hp1 NA18906.hp2 NA18960.hp1 NA18987.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0002c0004 others(1): Show a0001c0001 a0001c0002 a0002c0004 a0005c0009	a0001c0001t0001 a0001c0001t0002 a0001c0002t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0003 a0002c0004t0001 a0005c0009t0001	a0001c0001t0001g0007 a0001c0001t0001g0025 a0001c0001t0001g0027 others(10): Show a0001c0001t0001g0007 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0034 a0001c0001t0002g0167 a0001c0002t0003g0322 a0002c0004t0001g0339 a0002c0004t0001g0341 a0002c0004t0001g0350 a0002c0004t0001g0351 a0002c0004t0001g0355 a0002c0004t0001g0358 a0005c0009t0001g0336	13	362	0.0359	18	c.480 others(33): Show c.480-935_480-918dupGTGTGTGTGTGTGTGTGT	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	4/20			chr16	TogoVar
AARS1_chr16_70247298_70294506	70289739	C C	CCCCCCCC others(11): Show CCCCCCCCCCGCCCCCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0150 a0001c0002t0004g0150	1	362	0.0028	18	c.-34 others(27): Show c.-341_-340insCGGGGGGGCGGGGGGGGG	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding		234		chr16	TogoVar
AARS1_chr16_70247298_70294506	70289748	G G	GCCCCCCC others(11): Show GCCCCCCCGCCCCCCCCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0148 a0001c0002t0001g0148	1	362	0.0028	18	c.-35 others(27): Show c.-350_-349insGCGGGGGGGGCGGGGGGG	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding		243		chr16	TogoVar
AARS1_chr16_70247298_70294506	70293597	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	362	0.0028	18	c.-42 others(29): Show c.-4216_-4199dupAAAAAAAAAAAAAAAAAA	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding		4092		chr16	TogoVar
AARS2_chr6_44293731_44318347	44313696	C C	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0006 a0001c0002t0002g0006	1	396	0.0025	18	c.-37 others(27): Show c.-374_-373insACACACACACACACACAC	AARS2	ENSG00000124608.5	transcript	ENST00000244571.5	protein_coding		350		chr6	TogoVar
AASDH_chr4_56333290_56392491	56381649	T T	TCACACAC others(11): Show TCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00738.hp2 NA18978.hp2 HG00738.hp2 NA18978.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0003c0003t0002 a0002c0002t0001 a0003c0003t0002	a0002c0002t0001g0108 a0003c0003t0002g0277 a0002c0002t0001g0108 a0003c0003t0002g0277	2	382	0.0052	18	c.351 others(33): Show c.351+810_351+827dupTGTGTGTGTGTGTGTGTG	AASDH	ENSG00000157426.14	transcript	ENST00000205214.11	protein_coding	3/14			chr4	TogoVar
AASDH_chr4_56333290_56392491	56381649	T T	TCTCACAC others(11): Show TCTCACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00597.hp2 others(29): Show HG00140.hp1 HG00323.hp2 HG00597.hp2 HG00639.hp1 HG00735.hp1 HG00741.hp2 HG01074.hp2 HG01167.hp1 HG01175.hp2 HG01346.hp1 HG01433.hp1 HG02055.hp1 HG02056.hp2 HG02083.hp1 HG02148.hp1 HG02622.hp1 HG02622.hp2 HG02717.hp2 HG02896.hp1 HG03130.hp1 HG03453.hp2 HG03516.hp1 HG03579.hp1 HG03688.hp2 HG03710.hp2 HG04199.hp2 HG04228.hp1 NA18966.hp2 NA19030.hp2 NA19060.hp1 NA20129.hp2 NA20805.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0003c0003t0002 a0002c0002t0001 a0003c0003t0002	a0002c0002t0001g0106 a0002c0002t0001g0107 a0003c0003t0002g0027 others(28): Show a0002c0002t0001g0106 a0002c0002t0001g0107 a0003c0003t0002g0027 a0003c0003t0002g0044 a0003c0003t0002g0048 a0003c0003t0002g0049 a0003c0003t0002g0239 a0003c0003t0002g0244 a0003c0003t0002g0245 a0003c0003t0002g0246 a0003c0003t0002g0263 a0003c0003t0002g0264 a0003c0003t0002g0265 a0003c0003t0002g0266 a0003c0003t0002g0267 a0003c0003t0002g0268 a0003c0003t0002g0269 a0003c0003t0002g0270 a0003c0003t0002g0271 a0003c0003t0002g0272 a0003c0003t0002g0273 a0003c0003t0002g0274 a0003c0003t0002g0275 a0003c0003t0002g0276 a0003c0003t0002g0286 a0003c0003t0002g0289 a0003c0003t0002g0290 a0003c0003t0002g0291 a0003c0003t0002g0292 a0003c0003t0002g0293 a0003c0003t0002g0294	32	382	0.0838	18	c.351 others(33): Show c.351+827_351+828insTGTGTGTGTGTGTGTGAG	AASDH	ENSG00000157426.14	transcript	ENST00000205214.11	protein_coding	3/14			chr4	TogoVar
AASS_chr7_122068549_122149249	122140485	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01106.hp2 HG01192.hp2 others(17): Show HG00423.hp2 HG01106.hp2 HG01192.hp2 HG01255.hp1 HG01884.hp2 HG01928.hp1 HG01952.hp2 HG02109.hp2 HG02148.hp2 HG02486.hp2 HG02738.hp2 HG03225.hp2 HG03239.hp1 HG04228.hp1 NA18943.hp2 NA18980.hp2 NA18997.hp1 NA19079.hp1 NA20300.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0017 a0001c0001t0029	a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 others(14): Show a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0003g0006 a0001c0001t0003g0031 a0001c0001t0003g0292 a0001c0001t0003g0293 a0001c0001t0003g0294 a0001c0001t0003g0295 a0001c0001t0003g0297 a0001c0001t0003g0298 a0001c0001t0003g0310 a0001c0001t0004g0166 a0001c0001t0007g0144 a0001c0001t0007g0145 a0001c0001t0017g0296 a0001c0001t0029g0171	20	384	0.0521	18	c.-16 others(35): Show c.-16+3658_-16+3675dupTTTTTTTTTTTTTTTTTT	AASS	ENSG00000008311.16	transcript	ENST00000417368.7	protein_coding	1/23			chr7	TogoVar
ABAT_chr16_8669617_8789570	8707353	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03710.hp1 HG03688.hp2 HG03710.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0350 a0001c0003t0003g0355 a0001c0003t0003g0350 a0001c0003t0003g0355	2	362	0.0055	18	c.-41 others(37): Show c.-41-28329_-41-28328insTTTTTTTTTTTTTTTTTT	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8710727	A A	AGAGAGAG others(11): Show AGAGAGAGAGAGAGGGAGG	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0078 a0001c0001t0002g0078	1	362	0.0028	18	c.-41 others(37): Show c.-41-24969_-41-24968insAGAGAGAGAGGGAGGGAG	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8710727	A A	AGAGAGAG others(11): Show AGAGAGAGGGAGAGGGAGG	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01346.hp2 NA18954.hp1 others(5): Show HG00735.hp2 HG01346.hp2 NA18954.hp1 NA19000.hp1 NA19011.hp1 NA19056.hp1 NA20129.hp1 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0004 others(1): Show a0001c0001 a0001c0003 a0002c0004 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0022 a0001c0003t0001 a0002c0004t0001 a0002c0004t0008 a0002c0005t0003	a0001c0001t0001g0159 a0001c0001t0002g0278 a0001c0001t0004g0273 others(5): Show a0001c0001t0001g0159 a0001c0001t0002g0278 a0001c0001t0004g0273 a0001c0001t0022g0037 a0001c0003t0001g0093 a0002c0004t0001g0141 a0002c0004t0008g0176 a0002c0005t0003g0180	8	362	0.0221	18	c.-41 others(37): Show c.-41-24969_-41-24968insAGAGGGAGAGGGAGGGAG	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8711722	G G	GGATGGAT others(11): Show GGATGGATGATGACTGGAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01192.hp1 HG01496.hp2 others(4): Show HG00099.hp1 HG01192.hp1 HG01496.hp2 HG02965.hp1 HG03490.hp1 HG03492.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0002c0004 others(2): Show a0001c0003 a0002c0002 a0002c0004 a0002c0005 a0002c0006	a0001c0003t0002 a0002c0002t0002 a0002c0004t0001 others(3): Show a0001c0003t0002 a0002c0002t0002 a0002c0004t0001 a0002c0005t0001 a0002c0005t0008 a0002c0006t0003	a0001c0003t0002g0177 a0002c0002t0002g0020 a0002c0004t0001g0019 others(4): Show a0001c0003t0002g0177 a0002c0002t0002g0020 a0002c0004t0001g0019 a0002c0005t0001g0022 a0002c0005t0008g0016 a0002c0005t0008g0017 a0002c0006t0003g0023	7	362	0.0193	18	c.-41 others(37): Show c.-41-23976_-41-23975insATGGATGATGACTGGATG	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8711722	G G	GGATGGAT others(11): Show GGATGGATGATGATTGGAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG00639.hp1 others(58): Show HG00408.hp1 HG00438.hp1 HG00639.hp1 HG00733.hp2 HG00738.hp1 HG00741.hp2 HG01081.hp2 HG01123.hp1 HG01123.hp2 HG01192.hp2 HG01433.hp1 HG01934.hp2 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG02055.hp2 HG02071.hp1 HG02074.hp2 HG02109.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02293.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02630.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02922.hp2 HG03098.hp1 HG03130.hp2 HG03225.hp1 HG03453.hp1 HG03471.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03710.hp1 HG03942.hp2 NA18522.hp1 NA18951.hp2 NA18977.hp1 NA18986.hp1 NA18991.hp2 NA19002.hp2 NA19007.hp2 NA19009.hp2 NA19030.hp1 NA19058.hp2 NA19066.hp1 NA19066.hp2 NA19077.hp2 NA19083.hp1 NA19090.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0001c0021 others(9): Show a0001c0001 a0001c0003 a0001c0021 a0002c0002 a0002c0004 a0002c0005 a0002c0006 a0002c0007 a0002c0009 a0002c0015 a0002c0017 a0004c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(35): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0021t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0006 a0002c0002t0007 a0002c0002t0012 a0002c0002t0016 a0002c0002t0017 a0002c0002t0034 a0002c0004t0001 a0002c0004t0003 a0002c0004t0004 a0002c0004t0007 a0002c0005t0003 a0002c0005t0004 a0002c0006t0005 a0002c0006t0007 a0002c0006t0030 a0002c0007t0003 a0002c0007t0007 a0002c0007t0008 a0002c0007t0011 a0002c0007t0013 a0002c0009t0002 a0002c0015t0005 a0002c0017t0002 a0004c0014t0001	a0001c0001t0001g0058 a0001c0001t0001g0076 a0001c0001t0001g0110 others(58): Show a0001c0001t0001g0058 a0001c0001t0001g0076 a0001c0001t0001g0110 a0001c0001t0001g0125 a0001c0001t0001g0280 a0001c0001t0002g0095 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0153 a0001c0001t0002g0260 a0001c0001t0002g0296 a0001c0001t0003g0042 a0001c0001t0003g0047 a0001c0001t0003g0071 a0001c0001t0003g0258 a0001c0001t0005g0052 a0001c0001t0008g0040 a0001c0003t0001g0234 a0001c0003t0002g0148 a0001c0003t0003g0276 a0001c0003t0003g0277 a0001c0003t0003g0350 a0001c0003t0003g0355 a0001c0021t0001g0111 a0002c0002t0001g0144 a0002c0002t0001g0297 a0002c0002t0002g0053 a0002c0002t0002g0054 a0002c0002t0002g0069 a0002c0002t0002g0184 a0002c0002t0003g0309 a0002c0002t0004g0105 a0002c0002t0005g0250 a0002c0002t0006g0043 a0002c0002t0006g0351 a0002c0002t0007g0275 a0002c0002t0012g0162 a0002c0002t0012g0259 a0002c0002t0016g0143 a0002c0002t0017g0055 a0002c0002t0034g0046 a0002c0004t0001g0128 a0002c0004t0003g0196 a0002c0004t0003g0200 a0002c0004t0004g0362 a0002c0004t0007g0347 a0002c0005t0003g0070 a0002c0005t0004g0190 a0002c0006t0005g0129 a0002c0006t0007g0228 a0002c0006t0030g0008 a0002c0007t0003g0005 a0002c0007t0007g0341 a0002c0007t0008g0025 a0002c0007t0011g0004 a0002c0007t0013g0027 a0002c0007t0013g0031 a0002c0009t0002g0340 a0002c0015t0005g0310 a0002c0017t0002g0044 a0004c0014t0001g0041	61	362	0.1685	18	c.-41 others(37): Show c.-41-23976_-41-23975insATGGATGATGATTGGATG	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8723809	T T	TTATATAT others(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0036 a0002c0002t0002g0036	1	362	0.0028	18	c.-41 others(37): Show c.-41-11888_-41-11871dupATATATATATATATATAT	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8743423	T T	TTATATAT others(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01496.hp1 HG02004.hp2 others(8): Show HG01192.hp1 HG01496.hp1 HG02004.hp2 HG02523.hp2 HG02922.hp2 HG03654.hp1 HG04204.hp2 NA18986.hp2 NA19043.hp1 NA19055.hp2 NA19087.hp2	a0002 a0002	a0002c0002 a0002c0004 a0002c0005 others(2): Show a0002c0002 a0002c0004 a0002c0005 a0002c0006 a0002c0007	a0002c0002t0002 a0002c0002t0010 a0002c0004t0002 others(6): Show a0002c0002t0002 a0002c0002t0010 a0002c0004t0002 a0002c0005t0001 a0002c0005t0003 a0002c0005t0041 a0002c0006t0001 a0002c0006t0003 a0002c0007t0013	a0002c0002t0002g0152 a0002c0002t0010g0308 a0002c0004t0002g0229 others(8): Show a0002c0002t0002g0152 a0002c0002t0010g0308 a0002c0004t0002g0229 a0002c0005t0001g0214 a0002c0005t0001g0222 a0002c0005t0001g0225 a0002c0005t0003g0075 a0002c0005t0041g0319 a0002c0006t0001g0199 a0002c0006t0003g0023 a0002c0007t0013g0031	11	362	0.0304	18	c.71- others(33): Show c.71-2573_71-2556dupTATATATATATATATATA	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8743441	A A	ATATATAT others(11): Show ATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0351 a0002c0002t0006g0351	1	362	0.0028	18	c.71- others(33): Show c.71-2556_71-2555insTATATATATATATGTATA	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8743444	T T	TATATATA others(11): Show TATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02723.hp2 HG02809.hp1 others(5): Show HG02451.hp1 HG02723.hp2 HG02809.hp1 HG02965.hp2 HG03098.hp2 HG03453.hp2 NA18906.hp1 NA19030.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0003 a0002c0002t0005 others(4): Show a0002c0002t0001 a0002c0002t0003 a0002c0002t0005 a0002c0002t0006 a0002c0002t0007 a0002c0002t0026 a0002c0002t0034	a0002c0002t0001g0045 a0002c0002t0003g0241 a0002c0002t0003g0309 others(5): Show a0002c0002t0001g0045 a0002c0002t0003g0241 a0002c0002t0003g0309 a0002c0002t0005g0343 a0002c0002t0006g0353 a0002c0002t0007g0275 a0002c0002t0026g0332 a0002c0002t0034g0046	8	362	0.0221	18	c.71- others(33): Show c.71-2556_71-2555insTATATATATATATACACA	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8743444	T T	TATATATA others(11): Show TATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0174 a0002c0004t0002g0174	1	362	0.0028	18	c.71- others(33): Show c.71-2556_71-2555insTATATATATATATATACA	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8773105	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02683.hp1 NA19011.hp2 HG02683.hp1 NA19011.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0035 a0001c0003t0003 a0001c0003t0035	a0001c0003t0003g0064 a0001c0003t0035g0266 a0001c0003t0003g0064 a0001c0003t0035g0266	2	362	0.0055	18	c.954 others(33): Show c.954+214_954+231dupCACACACACACACACACA	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABCA10_chr17_69143007_69233824	69162838	C C	CATATACA others(11): Show CATATACATATACATATAT	intron_variant intron_variant	MODIFIER	HG02027.hp2 NA18942.hp2 NA18957.hp2 others(1): Show HG02027.hp2 NA18942.hp2 NA18957.hp2 NA18977.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0003c0003t0001 a0002c0002t0001 a0003c0003t0001	a0002c0002t0001g0098 a0002c0002t0001g0125 a0002c0002t0001g0126 others(1): Show a0002c0002t0001g0098 a0002c0002t0001g0125 a0002c0002t0001g0126 a0003c0003t0001g0093	4	348	0.0115	18	c.336 others(37): Show c.3363+1235_3363+1236insATATATGTATATGTATAT	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	27/38			chr17	TogoVar
ABCA10_chr17_69143007_69233824	69210081	T T	TTTATTAT others(11): Show TTTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01433.hp2 HG01975.hp2 others(5): Show HG01074.hp1 HG01433.hp2 HG01975.hp2 NA18612.hp2 NA18974.hp2 NA18985.hp2 NA18993.hp2 NA19086.hp2	a0004 a0004	a0004c0004 a0004c0006 a0004c0004 a0004c0006	a0004c0004t0003 a0004c0006t0003 a0004c0004t0003 a0004c0006t0003	a0004c0004t0003g0233 a0004c0004t0003g0235 a0004c0006t0003g0033 others(5): Show a0004c0004t0003g0233 a0004c0004t0003g0235 a0004c0006t0003g0033 a0004c0006t0003g0034 a0004c0006t0003g0044 a0004c0006t0003g0045 a0004c0006t0003g0152 a0004c0006t0003g0269	8	348	0.0230	18	c.100 others(37): Show c.1006+4605_1006+4622dupTAATAATAATAATAATAA	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	9/38			chr17	TogoVar
ABCA10_chr17_69143007_69233824	69210847	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0193 a0004c0004t0003g0193	1	348	0.0029	18	c.100 others(37): Show c.1006+3839_1006+3856dupATATATATATATATATAT	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	9/38			chr17	TogoVar
ABCA10_chr17_69143007_69233824	69227114	G G	GATATATA others(11): Show GATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00733.hp1 HG01256.hp2 others(11): Show HG00323.hp2 HG00733.hp1 HG01256.hp2 HG01258.hp1 HG01361.hp1 HG01433.hp1 HG02004.hp2 HG02129.hp2 HG02559.hp2 HG03492.hp1 NA18971.hp1 NA19000.hp2 NA19006.hp2 NA19074.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0012	a0001c0001 a0002c0002 a0003c0003 others(3): Show a0001c0001 a0002c0002 a0003c0003 a0004c0006 a0005c0013 a0012c0011	a0001c0001t0002 a0002c0002t0001 a0003c0003t0001 others(3): Show a0001c0001t0002 a0002c0002t0001 a0003c0003t0001 a0004c0006t0003 a0005c0013t0001 a0012c0011t0002	a0001c0001t0002g0001 a0002c0002t0001g0008 a0002c0002t0001g0014 others(10): Show a0001c0001t0002g0001 a0002c0002t0001g0008 a0002c0002t0001g0014 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0051 a0003c0003t0001g0052 a0004c0006t0003g0050 a0004c0006t0003g0053 a0004c0006t0003g0054 a0005c0013t0001g0049 a0012c0011t0002g0055	14	348	0.0402	18	c.-17 others(33): Show c.-172+13_-172+30dupATATATATATATATATAT	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	2/38			chr17	TogoVar
ABCA12_chr2_214926542_215143626	214989187	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG02055.hp2 others(5): Show HG01070.hp2 HG01071.hp1 HG02055.hp2 HG02293.hp1 HG02647.hp2 HG02723.hp2 HG03669.hp2 NA18971.hp2	a0001 a0003 a0009 others(1): Show a0001 a0003 a0009 a0018	a0001c0006 a0001c0011 a0001c0043 others(4): Show a0001c0006 a0001c0011 a0001c0043 a0001c0044 a0003c0014 a0009c0026 a0018c0048	a0001c0006t0023 a0001c0011t0001 a0001c0043t0006 others(4): Show a0001c0006t0023 a0001c0011t0001 a0001c0043t0006 a0001c0044t0004 a0003c0014t0006 a0009c0026t0003 a0018c0048t0001	a0001c0006t0023g0146 a0001c0011t0001g0085 a0001c0043t0006g0022 others(5): Show a0001c0006t0023g0146 a0001c0011t0001g0085 a0001c0043t0006g0022 a0001c0044t0004g0067 a0003c0014t0006g0098 a0009c0026t0003g0053 a0009c0026t0003g0056 a0018c0048t0001g0068	8	198	0.0404	18	c.382 others(35): Show c.3829+124_3829+141dupATATATATATATATATAT	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	26/52			chr2	TogoVar
ABCA12_chr2_214926542_215143626	215051609	A A	AGTGTGTG others(11): Show AGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0049 a0001c0049	a0001c0049t0002 a0001c0049t0002	a0001c0049t0002g0057 a0001c0049t0002g0057	1	198	0.0051	18	c.507 others(33): Show c.507+860_507+877dupACACACACACACACACAC	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	5/52			chr2	TogoVar
ABCA12_chr2_214926542_215143626	215134620	G G	GAGAGAGA others(11): Show GAGAGAGAGAGAGACAAAC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02717.hp2 NA18906.hp1 HG02559.hp1 HG02717.hp2 NA18906.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0025 a0002c0008 a0004c0061 a0001c0025 a0002c0008 a0004c0061	a0001c0025t0015 a0002c0008t0007 a0004c0061t0015 a0001c0025t0015 a0002c0008t0007 a0004c0061t0015	a0001c0025t0015g0182 a0002c0008t0007g0003 a0004c0061t0015g0181 a0001c0025t0015g0182 a0002c0008t0007g0003 a0004c0061t0015g0181	3	198	0.0152	18	c.69+ others(33): Show c.69+3519_69+3520insGTTTGTCTCTCTCTCTCT	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	1/52			chr2	TogoVar
ABCA13_chr7_48166458_48652497	48231656	C C	CTATTATT others(11): Show CTATTATTATTATTATTAT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0055 a0055	a0055c0049 a0055c0049	a0055c0049t0001 a0055c0049t0001	a0055c0049t0001g0086 a0055c0049t0001g0086	1	178	0.0056	18	c.763 others(35): Show c.763+1707_763+1724dupTTATTATTATTATTATTA	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	7/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48232139	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02976.hp1 HG02723.hp1 HG02976.hp1	a0027 a0046 a0027 a0046	a0027c0021 a0046c0057 a0027c0021 a0046c0057	a0027c0021t0008 a0046c0057t0001 a0027c0021t0008 a0046c0057t0001	a0027c0021t0008g0056 a0046c0057t0001g0001 a0027c0021t0008g0056 a0046c0057t0001g0001	2	178	0.0112	18	c.764 others(35): Show c.764-1871_764-1854dupTTTTTTTTTTTTTTTTTT	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	7/61		INFO_REALIGN_3_PRIME	chr7	TogoVar

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