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
ABTB3_chr12_107313434_107664642	107481883	G G	GTCTCTCT others(9): Show GTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp1 HG02155.hp2 others(3): Show HG01168.hp2 HG01169.hp1 HG02155.hp2 HG02717.hp1 HG02735.hp1 HG02896.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0013	a0001c0003 a0002c0002 a0003c0004 others(2): Show a0001c0003 a0002c0002 a0003c0004 a0004c0005 a0013c0024	a0001c0003t0005 a0002c0002t0001 a0003c0004t0001 others(2): Show a0001c0003t0005 a0002c0002t0001 a0003c0004t0001 a0004c0005t0009 a0013c0024t0001	a0001c0003t0005g0143 a0002c0002t0001g0125 a0003c0004t0001g0022 others(3): Show a0001c0003t0005g0143 a0002c0002t0001g0125 a0003c0004t0001g0022 a0003c0004t0001g0024 a0004c0005t0009g0103 a0013c0024t0001g0019	6	186	0.0323	16	c.113 others(37): Show c.1136-38574_1136-38559dupCTCTCTCTCTCTCTCT	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107542311	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01361.hp2 HG02738.hp2 others(2): Show HG00621.hp1 HG01361.hp2 HG02738.hp2 HG03942.hp1 NA18989.hp2	a0003 a0016 a0003 a0016	a0003c0004 a0003c0006 a0016c0019 a0003c0004 a0003c0006 a0016c0019	a0003c0004t0003 a0003c0004t0022 a0003c0006t0005 others(1): Show a0003c0004t0003 a0003c0004t0022 a0003c0006t0005 a0016c0019t0008	a0003c0004t0003g0035 a0003c0004t0003g0165 a0003c0004t0022g0041 others(2): Show a0003c0004t0003g0035 a0003c0004t0003g0165 a0003c0004t0022g0041 a0003c0006t0005g0144 a0016c0019t0008g0020	5	186	0.0269	16	c.128 others(35): Show c.1286-1610_1286-1609insAAAAAAAAAAAAAAAA	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107566648	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0003 a0005c0007t0003	a0005c0007t0003g0113 a0005c0007t0003g0113	1	186	0.0054	16	c.149 others(37): Show c.1491-14482_1491-14467dupCACACACACACACACA	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107566680	C C	CACACACA others(9): Show CACACACACACACACAA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20300.hp2 NA20129.hp1 NA20300.hp2	a0003 a0003	a0003c0008 a0003c0029 a0003c0008 a0003c0029	a0003c0008t0011 a0003c0029t0002 a0003c0008t0011 a0003c0029t0002	a0003c0008t0011g0153 a0003c0029t0002g0131 a0003c0008t0011g0153 a0003c0029t0002g0131	2	186	0.0108	16	c.149 others(37): Show c.1491-14467_1491-14466insCACACACACAAACACA	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107573464	C C	CGATGGAT others(9): Show CGATGGATGGATGGATG	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02056.hp2 HG02074.hp1 others(4): Show HG00621.hp2 HG02056.hp2 HG02074.hp1 HG02698.hp1 NA18522.hp1 NA18964.hp1 NA19086.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0004 a0001c0001 a0002c0002 a0003c0004	a0001c0001t0001 a0002c0002t0004 a0002c0002t0007 others(3): Show a0001c0001t0001 a0002c0002t0004 a0002c0002t0007 a0002c0002t0012 a0003c0004t0001 a0003c0004t0016	a0001c0001t0001g0008 a0001c0001t0001g0058 a0002c0002t0004g0127 others(4): Show a0001c0001t0001g0008 a0001c0001t0001g0058 a0002c0002t0004g0127 a0002c0002t0007g0178 a0002c0002t0012g0180 a0003c0004t0001g0040 a0003c0004t0016g0005	7	186	0.0376	16	c.149 others(35): Show c.1491-7656_1491-7641dupGGATGGATGGATGGAT	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107648380	C C	CCACACAC others(9): Show CCACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01884.hp1 HG01993.hp1 others(13): Show HG01109.hp1 HG01884.hp1 HG01993.hp1 HG01993.hp2 HG02015.hp2 HG02647.hp1 HG03017.hp2 HG03139.hp1 HG03834.hp2 NA18522.hp2 NA18942.hp1 NA18954.hp2 NA18979.hp2 NA18999.hp1 NA18999.hp2 NA19070.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0005 a0009 a0010 a0014	a0001c0001 a0001c0003 a0001c0011 others(8): Show a0001c0001 a0001c0003 a0001c0011 a0002c0002 a0003c0004 a0003c0006 a0003c0021 a0005c0007 a0009c0034 a0010c0017 a0014c0023	a0001c0001t0003 a0001c0003t0005 a0001c0003t0035 others(12): Show a0001c0001t0003 a0001c0003t0005 a0001c0003t0035 a0001c0011t0004 a0001c0011t0006 a0002c0002t0023 a0002c0002t0025 a0003c0004t0003 a0003c0006t0005 a0003c0021t0006 a0005c0007t0003 a0005c0007t0026 a0009c0034t0003 a0010c0017t0003 a0014c0023t0006	a0001c0001t0003g0027 a0001c0001t0003g0029 a0001c0003t0005g0136 others(13): Show a0001c0001t0003g0027 a0001c0001t0003g0029 a0001c0003t0005g0136 a0001c0003t0035g0142 a0001c0011t0004g0051 a0001c0011t0006g0101 a0002c0002t0023g0121 a0002c0002t0025g0164 a0003c0004t0003g0038 a0003c0006t0005g0130 a0003c0021t0006g0151 a0005c0007t0003g0072 a0005c0007t0026g0123 a0009c0034t0003g0070 a0010c0017t0003g0111 a0014c0023t0006g0099	16	186	0.0860	16	c.292 others(33): Show c.2923-807_2923-792dupCACACACACACACACA	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107654815	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02723.hp2 HG03579.hp2 others(1): Show HG02109.hp2 HG02723.hp2 HG03579.hp2 NA18522.hp1	a0001 a0002 a0012 a0001 a0002 a0012	a0001c0001 a0002c0015 a0012c0025 a0001c0001 a0002c0015 a0012c0025	a0001c0001t0001 a0001c0001t0002 a0002c0015t0007 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0015t0007 a0012c0025t0002	a0001c0001t0001g0058 a0001c0001t0002g0083 a0002c0015t0007g0166 others(1): Show a0001c0001t0001g0058 a0001c0001t0002g0083 a0002c0015t0007g0166 a0012c0025t0002g0079	4	186	0.0215	16	c.310 others(35): Show c.3106-2664_3106-2649dupCACACACACACACACA	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107655256	A A	AATATATA others(9): Show AATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0031 a0001c0011t0031	a0001c0011t0031g0075 a0001c0011t0031g0075	1	186	0.0054	16	c.310 others(35): Show c.3106-2249_3106-2234dupTATATATATATATATA	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACAA2_chr18_49777164_49818533	49801785	C C	CATATATA others(9): Show CATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01099.hp2 HG01255.hp1 others(16): Show HG00621.hp1 HG01099.hp2 HG01255.hp1 HG01346.hp1 HG01433.hp2 HG01515.hp1 HG02165.hp2 HG02809.hp2 HG02922.hp2 NA18953.hp2 NA18971.hp1 NA18985.hp2 NA18992.hp1 NA18994.hp1 NA19077.hp1 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0029 a0001c0003t0001 others(3): Show a0001c0001t0001 a0001c0001t0029 a0001c0003t0001 a0002c0002t0001 a0002c0002t0004 a0002c0002t0037	a0001c0001t0001g0019 a0001c0001t0001g0098 a0001c0001t0001g0100 others(14): Show a0001c0001t0001g0019 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0122 a0001c0001t0001g0149 a0001c0001t0001g0342 a0001c0001t0029g0152 a0001c0003t0001g0146 a0002c0002t0001g0095 a0002c0002t0001g0102 a0002c0002t0001g0112 a0002c0002t0001g0126 a0002c0002t0001g0129 a0002c0002t0004g0138 a0002c0002t0037g0127	19	434	0.0438	16	c.183 others(31): Show c.183+886_183+901dupATATATATATATATAT	ACAA2	ENSG00000167315.18	transcript	ENST00000285093.15	protein_coding	2/9			chr18	TogoVar
ACACA_chr17_37079992_37411836	37081323	G G	GGTGTGTG others(9): Show GGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 HG01515.hp2 HG02258.hp1 others(22): Show HG01069.hp1 HG01515.hp2 HG02258.hp1 HG02280.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02970.hp2 HG02976.hp1 HG03098.hp1 HG03098.hp2 HG03225.hp2 HG03471.hp1 HG03516.hp2 HG03579.hp2 NA19030.hp1 NA19030.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0035 a0001c0002t0001 a0001c0002t0002 a0001c0002t0023 a0001c0002t0034	a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0053 others(22): Show a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0053 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0139 a0001c0001t0001g0179 a0001c0001t0001g0184 a0001c0001t0001g0193 a0001c0001t0001g0293 a0001c0001t0002g0007 a0001c0001t0002g0022 a0001c0001t0002g0025 a0001c0001t0003g0116 a0001c0001t0004g0175 a0001c0001t0007g0073 a0001c0001t0007g0140 a0001c0001t0007g0275 a0001c0001t0035g0299 a0001c0002t0001g0178 a0001c0002t0001g0237 a0001c0002t0001g0243 a0001c0002t0002g0008 a0001c0002t0023g0236 a0001c0002t0034g0297	25	299	0.0836	16	c.59 others(27): Show c.5992_*5993insACACACACACACACAC	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding		3668		chr17	TogoVar
ACACA_chr17_37079992_37411836	37112049	A A	ACTATCTA others(9): Show ACTATCTATCTATCTAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01891.hp2 HG02145.hp2 others(14): Show HG01109.hp1 HG01891.hp2 HG02145.hp2 HG02258.hp2 HG02280.hp2 HG02572.hp2 HG02809.hp2 HG02970.hp1 HG03486.hp2 HG03516.hp1 NA18906.hp2 NA18970.hp1 NA18980.hp2 NA18991.hp1 NA19030.hp2 NA19068.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0006 a0001c0001 a0001c0004 a0001c0006	a0001c0001t0003 a0001c0001t0012 a0001c0004t0005 others(1): Show a0001c0001t0003 a0001c0001t0012 a0001c0004t0005 a0001c0006t0005	a0001c0001t0003g0051 a0001c0001t0003g0112 a0001c0001t0003g0116 others(14): Show a0001c0001t0003g0051 a0001c0001t0003g0112 a0001c0001t0003g0116 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0145 a0001c0001t0003g0181 a0001c0001t0012g0048 a0001c0001t0012g0095 a0001c0004t0005g0087 a0001c0004t0005g0118 a0001c0004t0005g0153 a0001c0004t0005g0158 a0001c0004t0005g0190 a0001c0004t0005g0192 a0001c0004t0005g0268 a0001c0006t0005g0119	17	299	0.0569	16	c.645 others(33): Show c.6453-422_6453-407dupATAGATAGATAGATAG	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	51/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37163196	T T	TAAAAAAA others(9): Show TAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG03098.hp2 HG03491.hp2 others(1): Show HG01981.hp2 HG03098.hp2 HG03491.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0001t0035 a0001c0003t0019 a0001c0001t0003 a0001c0001t0035 a0001c0003t0019	a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0035g0299 others(1): Show a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0035g0299 a0001c0003t0019g0028	4	299	0.0134	16	c.508 others(35): Show c.5080-1162_5080-1147dupTTTTTTTTTTTTTTTT	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	41/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37173982	T T	TTATATAT others(9): Show TTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0106 a0001c0002t0001g0106	1	299	0.0033	16	c.507 others(35): Show c.5079+5262_5079+5277dupTATATATATATATATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	41/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37174020	A A	ATATATAT others(9): Show ATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0261 a0001c0009t0001g0261	1	299	0.0033	16	c.507 others(35): Show c.5079+5239_5079+5240insAAAAAATATATATATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	41/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37174020	A A	ATATATAT others(9): Show ATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01069.hp1 HG00323.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0085 a0001c0001t0004g0175 a0001c0001t0004g0085 a0001c0001t0004g0175	2	299	0.0067	16	c.507 others(35): Show c.5079+5239_5079+5240insAAAAAAAAAATATATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	41/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37174020	A A	ATATTTTT others(9): Show ATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	299	0.0033	16	c.507 others(35): Show c.5079+5239_5079+5240insAAAAAAAAAAAAAATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	41/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37177269	C C	CGTGTGTG others(9): Show CGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03041.hp1 HG02055.hp2 HG03041.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0039 a0001c0002t0008g0042 a0001c0002t0008g0039 a0001c0002t0008g0042	2	299	0.0067	16	c.507 others(35): Show c.5079+1975_5079+1990dupACACACACACACACAC	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	41/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37268729	C C	CTATATAT others(9): Show CTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0120 a0001c0004t0005g0120	1	299	0.0033	16	c.111 others(35): Show c.1119+2021_1119+2022insTATATATATATATATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	10/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37291143	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00408.hp2 others(44): Show HG00099.hp2 HG00323.hp1 HG00408.hp2 HG00438.hp2 HG00609.hp2 HG00621.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00735.hp1 HG01168.hp2 HG01192.hp2 HG01255.hp2 HG01346.hp2 HG01515.hp2 HG01952.hp2 HG01981.hp1 HG01993.hp1 HG02015.hp2 HG02523.hp1 HG02647.hp1 HG02683.hp1 HG02735.hp1 HG03017.hp2 HG03239.hp2 HG03669.hp1 HG03704.hp1 HG04199.hp1 HG04228.hp1 NA18747.hp2 NA18943.hp2 NA18950.hp1 NA18954.hp1 NA18969.hp2 NA18973.hp2 NA18977.hp2 NA18984.hp1 NA18994.hp2 NA19000.hp1 NA19003.hp1 NA19005.hp2 NA19010.hp1 NA19057.hp1 NA19062.hp1 NA19064.hp1 NA19090.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0015 a0001c0001t0017 a0001c0001t0024 a0001c0001t0026 a0001c0001t0027 a0001c0009t0001	a0001c0001t0001g0076 a0001c0001t0001g0136 a0001c0001t0001g0142 others(44): Show a0001c0001t0001g0076 a0001c0001t0001g0136 a0001c0001t0001g0142 a0001c0001t0001g0177 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0208 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0252 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0294 a0001c0001t0002g0020 a0001c0001t0004g0085 a0001c0001t0004g0160 a0001c0001t0004g0161 a0001c0001t0004g0162 a0001c0001t0004g0167 a0001c0001t0004g0168 a0001c0001t0004g0174 a0001c0001t0004g0176 a0001c0001t0006g0189 a0001c0001t0015g0226 a0001c0001t0015g0271 a0001c0001t0017g0001 a0001c0001t0024g0214 a0001c0001t0026g0230 a0001c0001t0027g0291 a0001c0009t0001g0261	47	299	0.1572	16	c.339 others(33): Show c.339-6189_339-6174dupGTGTGTGTGTGTGTGT	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	3/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37316302	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0041 a0001c0001t0003g0041	1	299	0.0033	16	c.338 others(35): Show c.338+13855_338+13870dupGTGTGTGTGTGTGTGT	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	3/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37364598	A A	AAAAAAAA others(9): Show AAAAAAAAAAGAAAAAG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0043 a0001c0002t0008g0043	1	299	0.0033	16	c.39- others(33): Show c.39-24749_39-24748insCTTTTTCTTTTTTTTT	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	1/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37390175	T T	TATATATA others(9): Show TATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0074 a0001c0003t0001g0074	1	299	0.0033	16	c.38+ others(33): Show c.38+16086_38+16087insGTGTGTATATATATAT	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	1/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37390175	T T	TATATATA others(9): Show TATATATATATATACAC	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA19074.hp1 NA18943.hp1 NA19074.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0001 a0001c0002t0001 a0001c0003t0001	a0001c0002t0001g0084 a0001c0003t0001g0075 a0001c0002t0001g0084 a0001c0003t0001g0075	2	299	0.0067	16	c.38+ others(33): Show c.38+16086_38+16087insGTGTATATATATATAT	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	1/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37390322	A A	ATATATAT others(9): Show ATATATATCTATATATC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG01175.hp2 others(22): Show HG00140.hp2 HG00323.hp1 HG01175.hp2 HG01433.hp1 HG02040.hp2 HG02080.hp2 HG02258.hp1 HG02486.hp2 HG02630.hp2 HG03491.hp1 HG03669.hp2 HG03942.hp1 HG03942.hp2 NA18939.hp2 NA18943.hp1 NA18945.hp1 NA18964.hp1 NA18966.hp1 NA18991.hp2 NA18994.hp1 NA19003.hp2 NA19010.hp2 NA19056.hp1 NA19062.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0002c0013	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(7): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0011 a0001c0002t0001 a0001c0003t0001 a0001c0003t0014 a0001c0003t0030 a0001c0007t0003 a0002c0013t0001	a0001c0001t0001g0053 a0001c0001t0004g0085 a0001c0001t0007g0073 others(22): Show a0001c0001t0001g0053 a0001c0001t0004g0085 a0001c0001t0007g0073 a0001c0001t0011g0105 a0001c0002t0001g0050 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0003t0001g0058 a0001c0003t0001g0060 a0001c0003t0001g0061 a0001c0003t0001g0064 a0001c0003t0001g0065 a0001c0003t0001g0066 a0001c0003t0001g0068 a0001c0003t0001g0069 a0001c0003t0001g0070 a0001c0003t0001g0075 a0001c0003t0001g0078 a0001c0003t0001g0080 a0001c0003t0001g0088 a0001c0003t0014g0110 a0001c0003t0014g0111 a0001c0003t0030g0057 a0001c0007t0003g0067 a0002c0013t0001g0071	25	299	0.0836	16	c.38+ others(33): Show c.38+15939_38+15940insGATATATAGATATATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	1/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37390330	A A	ATATATAT others(9): Show ATATATATATATATATC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG04184.hp2 HG03130.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0003t0003 a0001c0001t0003 a0001c0003t0003	a0001c0001t0003g0098 a0001c0003t0003g0238 a0001c0001t0003g0098 a0001c0003t0003g0238	2	299	0.0067	16	c.38+ others(33): Show c.38+15931_38+15932insGATATATATATATATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	1/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37390330	A A	ATATATAT others(9): Show ATATATATCTATATATC	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18990.hp2 NA18972.hp2 NA18990.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0001 a0001c0002t0001 a0001c0003t0001	a0001c0002t0001g0055 a0001c0003t0001g0056 a0001c0002t0001g0055 a0001c0003t0001g0056	2	299	0.0067	16	c.38+ others(33): Show c.38+15931_38+15932insGATATATAGATATATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	1/55			chr17	TogoVar
ACACB_chr12_109111587_109273226	109133836	C C	CATATATA others(9): Show CATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp2 HG01168.hp1 HG01169.hp2	a0013 a0013	a0013c0033 a0013c0033	a0013c0033t0002 a0013c0033t0002	a0013c0033t0002g0185 a0013c0033t0002g0189 a0013c0033t0002g0185 a0013c0033t0002g0189	2	308	0.0065	16	c.-9- others(31): Show c.-9-5548_-9-5533dupATATATATATATATAT	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	1/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACB_chr12_109111587_109273226	109167621	G G	GTATATAT others(9): Show GTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01175.hp1 HG03540.hp1 others(3): Show HG00408.hp2 HG01175.hp1 HG03540.hp1 NA18995.hp1 NA19030.hp2 NA20129.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0006 a0007 a0009	a0001c0111 a0002c0036 a0003c0005 others(3): Show a0001c0111 a0002c0036 a0003c0005 a0006c0113 a0007c0057 a0009c0096	a0001c0111t0001 a0002c0036t0003 a0003c0005t0002 others(3): Show a0001c0111t0001 a0002c0036t0003 a0003c0005t0002 a0006c0113t0004 a0007c0057t0004 a0009c0096t0009	a0001c0111t0001g0275 a0002c0036t0003g0161 a0003c0005t0002g0246 others(3): Show a0001c0111t0001g0275 a0002c0036t0003g0161 a0003c0005t0002g0246 a0006c0113t0004g0031 a0007c0057t0004g0207 a0009c0096t0009g0295	6	308	0.0195	16	c.787 others(31): Show c.787-257_787-242dupATATATATATATATAT	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	3/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACB_chr12_109111587_109273226	109167643	A A	ATATATAT others(9): Show ATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0036 a0036	a0036c0094 a0036c0094	a0036c0094t0004 a0036c0094t0004	a0036c0094t0004g0072 a0036c0094t0004g0072	1	308	0.0033	16	c.787 others(31): Show c.787-242_787-241insATATTTATATATATAT	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	3/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACB_chr12_109111587_109273226	109188171	C C	CTCCTTCC others(9): Show CTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0009 a0001c0010t0009	a0001c0010t0009g0186 a0001c0010t0009g0186	1	308	0.0033	16	c.214 others(31): Show c.2144+57_2144+72dupTTCCTTCCTTCCTTCC	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	13/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACB_chr12_109111587_109273226	109206428	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01074.hp2 HG01069.hp1 HG01074.hp2	a0009 a0009	a0009c0025 a0009c0025	a0009c0025t0001 a0009c0025t0001	a0009c0025t0001g0105 a0009c0025t0001g0270 a0009c0025t0001g0105 a0009c0025t0001g0270	2	308	0.0065	16	c.291 others(33): Show c.2914-281_2914-266dupAAAAAAAAAAAAAAAA	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	19/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACB_chr12_109111587_109273226	109210201	A A	ATATATAC others(9): Show ATATATACACACGTGTG	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02258.hp2 HG01123.hp2 HG02258.hp2	a0001 a0001	a0001c0002 a0001c0023 a0001c0002 a0001c0023	a0001c0002t0001 a0001c0023t0001 a0001c0002t0001 a0001c0023t0001	a0001c0002t0001g0126 a0001c0023t0001g0089 a0001c0002t0001g0126 a0001c0023t0001g0089	2	308	0.0065	16	c.324 others(33): Show c.3249+853_3249+854insACACACGTGTGTATAT	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	21/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACB_chr12_109111587_109273226	109222294	C C	CGAGTGAG others(9): Show CGAGTGAGTGAGTGAGT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01106.hp1 HG02109.hp2 others(11): Show HG01081.hp1 HG01106.hp1 HG02109.hp2 HG02258.hp1 HG02615.hp2 HG02630.hp2 HG02717.hp1 HG02896.hp1 HG02897.hp2 HG03139.hp2 HG03209.hp2 HG03486.hp1 HG03516.hp1 NA18946.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0021 a0027	a0001c0002 a0001c0010 a0001c0016 others(7): Show a0001c0002 a0001c0010 a0001c0016 a0001c0032 a0001c0106 a0002c0118 a0003c0001 a0004c0040 a0021c0068 a0027c0065	a0001c0002t0001 a0001c0010t0009 a0001c0016t0009 others(7): Show a0001c0002t0001 a0001c0010t0009 a0001c0016t0009 a0001c0032t0004 a0001c0106t0001 a0002c0118t0005 a0003c0001t0001 a0004c0040t0002 a0021c0068t0001 a0027c0065t0005	a0001c0002t0001g0282 a0001c0002t0001g0283 a0001c0010t0009g0186 others(11): Show a0001c0002t0001g0282 a0001c0002t0001g0283 a0001c0010t0009g0186 a0001c0016t0009g0287 a0001c0016t0009g0290 a0001c0016t0009g0305 a0001c0032t0004g0291 a0001c0032t0004g0292 a0001c0106t0001g0293 a0002c0118t0005g0231 a0003c0001t0001g0138 a0004c0040t0002g0215 a0021c0068t0001g0202 a0027c0065t0005g0225	14	308	0.0455	16	c.356 others(33): Show c.3565-206_3565-191dupGTGAGTGAGTGAGTGA	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	24/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACB_chr12_109111587_109273226	109262950	T T	TTATATAT others(9): Show TTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00544.hp1 others(15): Show HG00280.hp1 HG00280.hp2 HG00544.hp1 HG00642.hp2 HG01069.hp2 HG01175.hp1 HG02015.hp2 HG02027.hp2 HG02280.hp2 HG02717.hp1 HG02970.hp1 HG03017.hp2 HG03492.hp1 HG04184.hp2 NA18906.hp2 NA18947.hp2 NA18951.hp2 NA20129.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0009 a0012 a0031	a0001c0002 a0001c0010 a0001c0013 others(12): Show a0001c0002 a0001c0010 a0001c0013 a0001c0034 a0001c0038 a0001c0049 a0001c0064 a0001c0111 a0002c0017 a0003c0001 a0003c0005 a0004c0008 a0009c0096 a0012c0035 a0031c0067	a0001c0002t0001 a0001c0010t0009 a0001c0013t0001 others(12): Show a0001c0002t0001 a0001c0010t0009 a0001c0013t0001 a0001c0034t0001 a0001c0038t0001 a0001c0049t0001 a0001c0064t0009 a0001c0111t0001 a0002c0017t0003 a0003c0001t0001 a0003c0005t0002 a0004c0008t0001 a0009c0096t0009 a0012c0035t0004 a0031c0067t0003	a0001c0002t0001g0235 a0001c0010t0009g0186 a0001c0013t0001g0163 others(15): Show a0001c0002t0001g0235 a0001c0010t0009g0186 a0001c0013t0001g0163 a0001c0013t0001g0256 a0001c0034t0001g0211 a0001c0038t0001g0029 a0001c0049t0001g0289 a0001c0064t0009g0184 a0001c0111t0001g0275 a0002c0017t0003g0042 a0003c0001t0001g0064 a0003c0001t0001g0132 a0003c0005t0002g0131 a0004c0008t0001g0221 a0009c0096t0009g0295 a0012c0035t0004g0063 a0012c0035t0004g0082 a0031c0067t0003g0027	18	308	0.0584	16	c.678 others(33): Show c.6787+499_6787+514dupATATATATATATATAT	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	49/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACB_chr12_109111587_109273226	109262950	T T	TTTTATAT others(9): Show TTTTATATATATATATA	intron_variant intron_variant	MODIFIER	HG03669.hp2 NA18959.hp1 NA18959.hp2 others(1): Show HG03669.hp2 NA18959.hp1 NA18959.hp2 NA18987.hp2	a0001 a0003 a0001 a0003	a0001c0003 a0001c0010 a0001c0046 others(1): Show a0001c0003 a0001c0010 a0001c0046 a0003c0005	a0001c0003t0002 a0001c0010t0002 a0001c0046t0002 others(1): Show a0001c0003t0002 a0001c0010t0002 a0001c0046t0002 a0003c0005t0002	a0001c0003t0002g0104 a0001c0010t0002g0261 a0001c0046t0002g0067 others(1): Show a0001c0003t0002g0104 a0001c0010t0002g0261 a0001c0046t0002g0067 a0003c0005t0002g0240	4	308	0.0130	16	c.678 others(33): Show c.6787+482_6787+483insTTATATATATATATAT	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	49/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACAD11_chr3_132553141_132664809	132568801	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0289 a0001c0001t0002g0289	1	316	0.0032	16	c.200 others(35): Show c.2001+6955_2001+6970dupTTTTTTTTTTTTTTTT	ACAD11	ENSG00000240303.8	transcript	ENST00000264990.11	protein_coding	17/19			chr3	TogoVar
ACAD11_chr3_132553141_132664809	132569828	A A	AGGCTATA others(9): Show AGGCTATAAAAGCAAAG	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp2 NA18986.hp2 NA18973.hp1 NA18973.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0254 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0254	3	316	0.0095	16	c.200 others(35): Show c.2001+5943_2001+5944insCTTTGCTTTTATAGCC	ACAD11	ENSG00000240303.8	transcript	ENST00000264990.11	protein_coding	17/19			chr3	TogoVar
ACAD11_chr3_132553141_132664809	132588192	G G	GGTATGTA others(9): Show GGTATGTATGTATGTAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01243.hp1 HG02257.hp1 others(11): Show HG01109.hp1 HG01243.hp1 HG02257.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02895.hp2 HG02896.hp1 HG02922.hp1 HG03579.hp2 NA18522.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0129 a0001c0001t0001g0171 a0001c0001t0001g0200 others(10): Show a0001c0001t0001g0129 a0001c0001t0001g0171 a0001c0001t0001g0200 a0003c0003t0001g0011 a0003c0003t0001g0176 a0003c0003t0001g0186 a0003c0003t0001g0188 a0003c0003t0001g0256 a0003c0003t0001g0257 a0003c0003t0001g0259 a0003c0003t0001g0260 a0003c0003t0001g0261 a0003c0003t0001g0262	14	316	0.0443	16	c.162 others(35): Show c.1622-8650_1622-8635dupATACATACATACATAC	ACAD11	ENSG00000240303.8	transcript	ENST00000264990.11	protein_coding	13/19			chr3	TogoVar
ACAD8_chr11_134248568_134270855	134267820	T T	TACACACA others(9): Show TACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02451.hp1 HG02630.hp2 others(2): Show HG02280.hp1 HG02451.hp1 HG02630.hp2 HG03471.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0011	5	448	0.0112	16	c.28 others(27): Show c.2860_*2861insACACACACACACACAC	ACAD8	ENSG00000151498.12	transcript	ENST00000281182.9	protein_coding		1966		chr11	TogoVar
ACAD9_chr3_128874620_128918114	128899523	G G	GGTGTGTG others(9): Show GGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0126 a0001c0002t0002g0126	1	372	0.0027	16	c.808 others(30): Show c.808+87_808+102dupGTGTGTGTGTGTGTGT	ACAD9	ENSG00000177646.20	transcript	ENST00000308982.12	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
ACAD9_chr3_128874620_128918114	128901172	T T	TTGGATGG others(9): Show TTGGATGGATGGATGGA	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02055.hp2 HG02056.hp2 others(21): Show HG02040.hp2 HG02055.hp2 HG02056.hp2 HG02258.hp1 HG02451.hp1 HG02922.hp2 HG02970.hp1 HG03209.hp2 HG03491.hp2 HG03704.hp1 HG03927.hp1 HG03942.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18950.hp1 NA18962.hp1 NA18988.hp1 NA19030.hp1 NA19063.hp2 NA19066.hp1 NA19072.hp1 NA19091.hp1 NA20129.hp2	a0001 a0004 a0001 a0004	a0001c0003 a0001c0004 a0001c0012 others(1): Show a0001c0003 a0001c0004 a0001c0012 a0004c0011	a0001c0003t0004 a0001c0004t0004 a0001c0012t0004 others(1): Show a0001c0003t0004 a0001c0004t0004 a0001c0012t0004 a0004c0011t0004	a0001c0003t0004g0050 a0001c0003t0004g0054 a0001c0003t0004g0061 others(19): Show a0001c0003t0004g0050 a0001c0003t0004g0054 a0001c0003t0004g0061 a0001c0004t0004g0021 a0001c0004t0004g0022 a0001c0004t0004g0023 a0001c0004t0004g0024 a0001c0004t0004g0048 a0001c0004t0004g0049 a0001c0004t0004g0051 a0001c0004t0004g0052 a0001c0004t0004g0053 a0001c0004t0004g0055 a0001c0004t0004g0056 a0001c0004t0004g0057 a0001c0004t0004g0058 a0001c0004t0004g0059 a0001c0004t0004g0060 a0001c0004t0004g0062 a0001c0004t0004g0063 a0001c0012t0004g0023 a0004c0011t0004g0024	24	372	0.0645	16	c.809 others(29): Show c.809-89_809-74dupGATGGATGGATGGATG	ACAD9	ENSG00000177646.20	transcript	ENST00000308982.12	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
ACADL_chr2_210182923_210230447	210214467	A A	AAAAGAAA others(9): Show AAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00323.hp1 others(36): Show HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00609.hp2 HG00639.hp2 HG01106.hp2 HG01243.hp1 HG01255.hp1 HG01496.hp1 HG01891.hp2 HG02055.hp1 HG02055.hp2 HG02165.hp1 HG02559.hp2 HG02630.hp2 HG02809.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG03041.hp1 HG03209.hp1 HG03225.hp2 HG03490.hp2 HG03492.hp1 HG03654.hp1 HG03927.hp1 HG04204.hp1 HG04204.hp2 NA18522.hp1 NA18967.hp1 NA18968.hp2 NA18972.hp1 NA18983.hp1 NA18993.hp1 NA19002.hp1 NA19002.hp2 NA19068.hp2 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0004 a0001c0001 a0002c0002 a0003c0004	a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 a0003c0004t0001	a0001c0001t0001g0007 a0001c0001t0001g0033 a0001c0001t0001g0038 others(31): Show a0001c0001t0001g0007 a0001c0001t0001g0033 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0046 a0001c0001t0001g0057 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0140 a0001c0001t0001g0158 a0001c0001t0001g0212 a0001c0001t0001g0220 a0001c0001t0001g0230 a0001c0001t0003g0120 a0002c0002t0001g0002 a0002c0002t0001g0017 a0002c0002t0001g0090 a0002c0002t0001g0129 a0002c0002t0001g0130 a0002c0002t0001g0172 a0002c0002t0001g0213 a0002c0002t0001g0228 a0002c0002t0001g0235 a0002c0002t0001g0237 a0002c0002t0001g0239 a0002c0002t0001g0240 a0003c0004t0001g0219	39	274	0.1423	16	c.536 others(33): Show c.536+1864_536+1879dupCTTTCTTTCTTTCTTT	ACADL	ENSG00000115361.8	transcript	ENST00000233710.4	protein_coding	4/10			chr2	TogoVar
ACADL_chr2_210182923_210230447	210214509	A A	AAGAAAGA others(9): Show AAGAAAGAAAGAAAGAG	intron_variant intron_variant	MODIFIER	HG02486.hp2 NA19030.hp2 HG02486.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0035 a0001c0003t0001g0243 a0001c0001t0001g0035 a0001c0003t0001g0243	2	274	0.0073	16	c.536 others(33): Show c.536+1837_536+1838insCTCTTTCTTTCTTTCT	ACADL	ENSG00000115361.8	transcript	ENST00000233710.4	protein_coding	4/10			chr2	TogoVar
ACADM_chr1_75719709_75768679	75736173	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02145.hp2 HG02486.hp1 others(2): Show HG01884.hp1 HG02145.hp2 HG02486.hp1 HG02922.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0255 a0001c0001t0001g0258 others(2): Show a0001c0001t0001g0248 a0001c0001t0001g0255 a0001c0001t0001g0258 a0001c0001t0001g0269 a0001c0001t0001g0275	5	364	0.0137	16	c.468 others(33): Show c.468+1319_468+1334dupACACACACACACACAC	ACADM	ENSG00000117054.15	transcript	ENST00000370841.9	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACADM_chr1_75719709_75768679	75737282	A A	ATATATAT others(9): Show ATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02895.hp1 HG02897.hp1 others(6): Show HG02055.hp2 HG02895.hp1 HG02897.hp1 HG03540.hp1 HG03579.hp1 HG06807.hp2 NA18522.hp2 NA19043.hp2 NA20300.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0292 a0001c0004t0005g0293 a0001c0004t0005g0294 others(6): Show a0001c0004t0005g0292 a0001c0004t0005g0293 a0001c0004t0005g0294 a0001c0004t0005g0295 a0001c0004t0005g0296 a0001c0004t0005g0297 a0001c0004t0005g0298 a0001c0004t0005g0299 a0001c0004t0005g0300	9	364	0.0247	16	c.468 others(33): Show c.468+2426_468+2427insGTATATATATATATAT	ACADM	ENSG00000117054.15	transcript	ENST00000370841.9	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACADM_chr1_75719709_75768679	75737327	T T	TATATATA others(9): Show TATATATATATATATGA	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0280 a0001c0001t0006g0280	1	364	0.0028	16	c.468 others(33): Show c.468+2456_468+2457insATATATATATATATGA	ACADM	ENSG00000117054.15	transcript	ENST00000370841.9	protein_coding	6/11			chr1	TogoVar
ACADM_chr1_75719709_75768679	75760544	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0149 a0001c0001t0002g0149	1	364	0.0028	16	c.946 others(31): Show c.946-557_946-542dupAAAAAAAAAAAAAAAA	ACADM	ENSG00000117054.15	transcript	ENST00000370841.9	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACADM_chr1_75719709_75768679	75765587	G G	GAGGGAGG others(9): Show GAGGGAGGAAGGAAGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG01891.hp1 HG02145.hp2 others(15): Show HG01192.hp2 HG01891.hp1 HG02145.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02615.hp1 HG02717.hp1 HG02922.hp1 HG02970.hp2 HG03098.hp2 HG03130.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp2 NA18522.hp1 NA19240.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0008 a0001c0001 a0006c0008	a0001c0001t0001 a0001c0001t0002 a0006c0008t0001 a0001c0001t0001 a0001c0001t0002 a0006c0008t0001	a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 others(15): Show a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0002g0230 a0006c0008t0001g0251	18	364	0.0495	16	c.28 others(27): Show c.2824_*2825insAGGGAGGAAGGAAGGA	ACADM	ENSG00000117054.15	transcript	ENST00000370841.9	protein_coding		1909		chr1	TogoVar
ACADSB_chr10_123004006_123063290	123045171	A A	ATATATTT others(9): Show ATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0004 a0004	a0004c0016 a0004c0016	a0004c0016t0032 a0004c0016t0032	a0004c0016t0032g0234 a0004c0016t0032g0234	1	374	0.0027	16	c.900 others(31): Show c.900+687_900+688insATATTTTTTTTTTTTT	ACADSB	ENSG00000196177.13	transcript	ENST00000358776.7	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
ACAP2_chr3_195269745_195448020	195294608	A A	AAAAAATA others(9): Show AAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02165.hp2 NA18948.hp1 HG00558.hp2 HG02165.hp2 NA18948.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0004 a0001c0002t0001 a0001c0002t0004	a0001c0002t0001g0043 a0001c0002t0004g0047 a0001c0002t0004g0051 a0001c0002t0001g0043 a0001c0002t0004g0047 a0001c0002t0004g0051	3	324	0.0093	16	c.176 others(33): Show c.1765+110_1765+111insATATATATATATTTTT	ACAP2	ENSG00000114331.16	transcript	ENST00000326793.11	protein_coding	18/22			chr3	TogoVar

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