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
ABR_chr17_998519_1184981	1179612	CATCCTGG others(13): Show CATCCTGGGGTCCCGATCCCG	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 NA20300.hp2 HG01891.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0011 a0001c0001t0003 a0001c0001t0011	a0001c0001t0003g0237 a0001c0001t0011g0238 a0001c0001t0003g0237 a0001c0001t0011g0238	2	337	0.0059	-20	c.61+ others(31): Show c.61+35_61+54delCGGGATCGGGACCCCAGGAT	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABTB2_chr11_34145987_34363010	34271734	AATACATA others(13): Show AATACATACATACATACATAC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00642.hp2 HG00733.hp1 others(19): Show HG00099.hp2 HG00642.hp2 HG00733.hp1 HG01071.hp1 HG01106.hp1 HG01123.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01358.hp2 HG01978.hp1 HG02004.hp2 HG02145.hp2 HG02273.hp2 HG02559.hp2 HG02723.hp1 HG02970.hp2 HG03017.hp1 HG03225.hp1 HG03453.hp1 NA18906.hp1 NA18962.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0012 a0002c0002 others(2): Show a0001c0001 a0001c0012 a0002c0002 a0002c0017 a0003c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0016 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0016 a0001c0012t0001 a0002c0002t0002 a0002c0017t0028 a0003c0003t0010	a0001c0001t0001g0003 a0001c0001t0001g0035 a0001c0001t0001g0077 others(19): Show a0001c0001t0001g0003 a0001c0001t0001g0035 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0140 a0001c0001t0001g0143 a0001c0001t0003g0164 a0001c0001t0003g0180 a0001c0001t0016g0141 a0001c0012t0001g0044 a0002c0002t0002g0191 a0002c0002t0002g0202 a0002c0017t0028g0222 a0003c0003t0010g0165	22	246	0.0894	-20	c.884 others(39): Show c.884-67064_884-67045delGTATGTATGTATGTATGTAT	ABTB2	ENSG00000166016.6	transcript	ENST00000435224.3	protein_coding	1/16			chr11	TogoVar
ABTB2_chr11_34145987_34363010	34325950	AAAAATAA others(13): Show AAAAATAAAATAAAATAAAAT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG03453.hp1 HG00642.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0143 a0001c0004t0001g0101 a0001c0001t0001g0143 a0001c0004t0001g0101	2	246	0.0081	-20	c.883 others(39): Show c.883+30731_883+30750delATTTTATTTTATTTTATTTT	ABTB2	ENSG00000166016.6	transcript	ENST00000435224.3	protein_coding	1/16			chr11	TogoVar
ABTB2_chr11_34145987_34363010	34342920	CATTTATT others(13): Show CATTTATTTATTTATTTATTT	C C	intron_variant intron_variant	MODIFIER	HG03098.hp2 NA18522.hp1 HG03098.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0021 a0001c0005t0004 a0001c0001t0021 a0001c0005t0004	a0001c0001t0021g0187 a0001c0005t0004g0116 a0001c0001t0021g0187 a0001c0005t0004g0116	2	246	0.0081	-20	c.883 others(39): Show c.883+13761_883+13780delAAATAAATAAATAAATAAAT	ABTB2	ENSG00000166016.6	transcript	ENST00000435224.3	protein_coding	1/16			chr11	TogoVar
ABTB3_chr12_107313434_107664642	107335286	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0002 a0003c0008t0002	a0003c0008t0002g0092 a0003c0008t0002g0092	1	186	0.0054	-20	c.113 others(41): Show c.1135+15232_1135+15251delAAAAAAAAAAAAAAAAAAAA	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107370757	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0120 a0002c0002t0001g0120	1	186	0.0054	-20	c.113 others(41): Show c.1135+50691_1135+50710delTTTTTTTTTTTTTTTTTTTT	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107389834	ATGTGTGT others(13): Show ATGTGTGTGTGTTTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0157 a0001c0001t0002g0157	1	186	0.0054	-20	c.113 others(41): Show c.1135+69771_1135+69790delTTGTGTGTGTGTGTGTGTGT	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107464206	AGTGTGTG others(13): Show AGTGTGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0002 a0003c0008t0002	a0003c0008t0002g0087 a0003c0008t0002g0087	1	186	0.0054	-20	c.113 others(41): Show c.1136-56246_1136-56227delGTGTGTGTGTGTGTGTGTGT	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107482913	CTTCTTTC others(13): Show CTTCTTTCTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG02056.hp2 NA19086.hp2 HG02056.hp2 NA19086.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0016 a0003c0004t0001 a0003c0004t0016	a0003c0004t0001g0040 a0003c0004t0016g0005 a0003c0004t0001g0040 a0003c0004t0016g0005	2	186	0.0108	-20	c.113 others(41): Show c.1136-37518_1136-37499delTTTCTTTCTTTCTTTCTTTC	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107482969	TTTCTTTC others(13): Show TTTCTTTCTTTCTTTCTTTCC	T T	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01361.hp1 NA18522.hp1 others(4): Show HG01099.hp2 HG01361.hp1 NA18522.hp1 NA18982.hp2 NA18983.hp2 NA19087.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0001c0003t0002 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0003t0002 a0001c0003t0006 a0002c0002t0007	a0001c0001t0001g0058 a0001c0001t0004g0031 a0001c0003t0002g0138 others(4): Show a0001c0001t0001g0058 a0001c0001t0004g0031 a0001c0003t0002g0138 a0001c0003t0002g0145 a0001c0003t0002g0146 a0001c0003t0006g0140 a0002c0002t0007g0176	7	186	0.0376	-20	c.113 others(41): Show c.1136-37514_1136-37495delTTTCTTTCTTTCTTTCCTTC	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107482973	TTTCTTTC others(13): Show TTTCTTTCTTTCTTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp1 HG01943.hp2 others(5): Show HG01168.hp2 HG01169.hp1 HG01943.hp2 HG02723.hp1 HG02809.hp2 HG02818.hp2 HG03453.hp1 NA18946.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0018	a0001c0001 a0002c0002 a0002c0031 others(3): Show a0001c0001 a0002c0002 a0002c0031 a0003c0004 a0003c0020 a0018c0027	a0001c0001t0002 a0002c0002t0007 a0002c0031t0003 others(4): Show a0001c0001t0002 a0002c0002t0007 a0002c0031t0003 a0003c0004t0001 a0003c0004t0011 a0003c0020t0001 a0018c0027t0001	a0001c0001t0002g0082 a0002c0002t0007g0174 a0002c0031t0003g0066 others(5): Show a0001c0001t0002g0082 a0002c0002t0007g0174 a0002c0031t0003g0066 a0003c0004t0001g0022 a0003c0004t0001g0024 a0003c0004t0011g0155 a0003c0020t0001g0028 a0018c0027t0001g0045	8	186	0.0430	-20	c.113 others(41): Show c.1136-37510_1136-37491delTTTCTTTCTTTCCTTCCTTC	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107482981	TTTCTTTC others(13): Show TTTCTTTCCTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02257.hp2 HG02818.hp1 others(1): Show HG02056.hp1 HG02257.hp2 HG02818.hp1 HG02976.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0003 a0001c0001t0015 a0001c0001t0033 others(1): Show a0001c0001t0003 a0001c0001t0015 a0001c0001t0033 a0004c0005t0009	a0001c0001t0003g0015 a0001c0001t0015g0156 a0001c0001t0033g0077 others(1): Show a0001c0001t0003g0015 a0001c0001t0015g0156 a0001c0001t0033g0077 a0004c0005t0009g0094	4	186	0.0215	-20	c.113 others(41): Show c.1136-37502_1136-37483delTTTCCTTCCTTCCTTCCTTC	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107508066	AGATGGAT others(13): Show AGATGGATGGATGGATGGATG	A A	intron_variant intron_variant	MODIFIER	HG02056.hp2 NA19086.hp2 HG02056.hp2 NA19086.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0016 a0003c0004t0001 a0003c0004t0016	a0003c0004t0001g0040 a0003c0004t0016g0005 a0003c0004t0001g0040 a0003c0004t0016g0005	2	186	0.0108	-20	c.113 others(41): Show c.1136-12394_1136-12375delTGGATGGATGGATGGATGGA	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107648380	CCACACAC others(13): Show CCACACACACACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02615.hp1 HG02630.hp1 others(4): Show HG02257.hp1 HG02615.hp1 HG02630.hp1 HG02809.hp2 HG02922.hp1 HG02965.hp1 HG03225.hp1	a0001 a0003 a0018 a0001 a0003 a0018	a0001c0001 a0003c0008 a0018c0027 a0001c0001 a0003c0008 a0018c0027	a0001c0001t0001 a0001c0001t0002 a0003c0008t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0003c0008t0001 a0003c0008t0002 a0018c0027t0001	a0001c0001t0001g0055 a0001c0001t0002g0042 a0003c0008t0001g0021 others(4): Show a0001c0001t0001g0055 a0001c0001t0002g0042 a0003c0008t0001g0021 a0003c0008t0001g0049 a0003c0008t0001g0052 a0003c0008t0002g0092 a0018c0027t0001g0045	7	186	0.0376	-20	c.292 others(37): Show c.2923-811_2923-792delCACACACACACACACACACA	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACA_chr17_37079992_37411836	37119589	AACACACA others(13): Show AACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01891.hp2 HG02109.hp2 others(12): Show HG01109.hp1 HG01891.hp2 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02280.hp2 HG02572.hp2 HG02809.hp2 HG02970.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03540.hp1 NA18906.hp2 NA19043.hp2	a0001 a0001	a0001c0004 a0001c0006 a0001c0004 a0001c0006	a0001c0004t0005 a0001c0004t0021 a0001c0006t0005 a0001c0004t0005 a0001c0004t0021 a0001c0006t0005	a0001c0004t0005g0040 a0001c0004t0005g0087 a0001c0004t0005g0090 others(12): Show a0001c0004t0005g0040 a0001c0004t0005g0087 a0001c0004t0005g0090 a0001c0004t0005g0117 a0001c0004t0005g0118 a0001c0004t0005g0120 a0001c0004t0005g0137 a0001c0004t0005g0153 a0001c0004t0005g0158 a0001c0004t0005g0190 a0001c0004t0005g0192 a0001c0004t0005g0268 a0001c0004t0005g0277 a0001c0004t0021g0023 a0001c0006t0005g0119	15	299	0.0502	-20	c.627 others(39): Show c.6274+1746_6274+1765delGTGTGTGTGTGTGTGTGTGT	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	50/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37173982	TTATATAT others(13): Show TTATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp2 HG01515.hp1 HG01517.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0240 a0001c0002t0001g0284 a0001c0002t0001g0240 a0001c0002t0001g0284	2	299	0.0067	-20	c.507 others(39): Show c.5079+5258_5079+5277delTATATATATATATATATATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	41/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37174002	ATATATAT others(13): Show ATATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0004 a0004	a0004c0014 a0004c0014	a0004c0014t0001 a0004c0014t0001	a0004c0014t0001g0247 a0004c0014t0001g0247	1	299	0.0033	-20	c.507 others(39): Show c.5079+5238_5079+5257delAATATATATATATATATATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	41/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37202696	TATATATA others(13): Show TATATATATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG02970.hp1 NA18906.hp2 HG02970.hp1 NA18906.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0153 a0001c0004t0005g0192 a0001c0004t0005g0153 a0001c0004t0005g0192	2	299	0.0067	-20	c.405 others(39): Show c.4057-2233_4057-2214delGTGTATATATATATATATAT	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	33/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37260278	ATATATAT others(13): Show ATATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA19090.hp2 NA18975.hp1 NA19090.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0127 a0001c0002t0001g0128	2	299	0.0067	-20	c.133 others(37): Show c.1330-768_1330-749delAATATATATATATATATATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	11/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37260284	ATATATAT others(13): Show ATATATATATATATTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0040 a0001c0004t0005g0040	1	299	0.0033	-20	c.133 others(37): Show c.1330-774_1330-755delAAAAAAAATATATATATATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	11/55			chr17	TogoVar
ACACB_chr12_109111587_109273226	109140251	CTTCCATC others(13): Show CTTCCATCCTTCCTTCCTTCT	C C	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0001 a0001c0023t0001	a0001c0023t0001g0122 a0001c0023t0001g0122	1	308	0.0033	-20	c.653 others(35): Show c.653+198_653+217delATCCTTCCTTCCTTCTTTCC	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	2/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACB_chr12_109111587_109273226	109140256	ATCCTTCC others(13): Show ATCCTTCCTTCCTTCTTTCCT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00735.hp2 HG00741.hp1 others(21): Show HG00438.hp1 HG00735.hp2 HG00741.hp1 HG01070.hp1 HG01123.hp2 HG01258.hp1 HG01515.hp2 HG01891.hp2 HG02080.hp1 HG02257.hp2 HG02258.hp2 HG02523.hp2 HG02738.hp1 HG02896.hp1 HG02897.hp2 HG03098.hp1 HG03139.hp2 HG03209.hp1 HG03486.hp1 HG03834.hp2 NA18950.hp1 NA19084.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0034 others(1): Show a0001 a0002 a0034 a0040	a0001c0002 a0001c0003 a0001c0016 others(10): Show a0001c0002 a0001c0003 a0001c0016 a0001c0023 a0001c0032 a0001c0098 a0001c0107 a0002c0006 a0002c0014 a0002c0024 a0002c0097 a0034c0102 a0040c0115	a0001c0002t0001 a0001c0002t0021 a0001c0003t0002 others(12): Show a0001c0002t0001 a0001c0002t0021 a0001c0003t0002 a0001c0016t0009 a0001c0023t0001 a0001c0023t0004 a0001c0032t0004 a0001c0098t0001 a0001c0107t0012 a0002c0006t0003 a0002c0014t0003 a0002c0024t0003 a0002c0097t0003 a0034c0102t0018 a0040c0115t0001	a0001c0002t0001g0075 a0001c0002t0001g0079 a0001c0002t0001g0091 others(21): Show a0001c0002t0001g0075 a0001c0002t0001g0079 a0001c0002t0001g0091 a0001c0002t0001g0126 a0001c0002t0021g0243 a0001c0003t0002g0094 a0001c0003t0002g0097 a0001c0003t0002g0101 a0001c0003t0002g0244 a0001c0016t0009g0287 a0001c0016t0009g0305 a0001c0023t0001g0089 a0001c0023t0001g0100 a0001c0023t0004g0121 a0001c0032t0004g0291 a0001c0032t0004g0292 a0001c0098t0001g0286 a0001c0107t0012g0196 a0002c0006t0003g0107 a0002c0014t0003g0106 a0002c0024t0003g0093 a0002c0097t0003g0124 a0034c0102t0018g0195 a0040c0115t0001g0258	24	308	0.0779	-20	c.653 others(35): Show c.653+213_653+232delTTTCCTTCCTTCCTTCCTTC	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	2/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACB_chr12_109111587_109273226	109140271	TTTCCTTC others(13): Show TTTCCTTCCTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00408.hp2 others(42): Show HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp2 HG00609.hp1 HG00621.hp1 HG00673.hp2 HG00735.hp1 HG01109.hp1 HG02015.hp1 HG02027.hp1 HG02056.hp1 HG02056.hp2 HG02080.hp2 HG02132.hp1 HG02132.hp2 HG03017.hp1 HG03669.hp1 HG04184.hp2 NA18942.hp1 NA18947.hp2 NA18951.hp2 NA18952.hp1 NA18959.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18966.hp1 NA18970.hp2 NA18981.hp2 NA18983.hp1 NA18987.hp2 NA18994.hp1 NA18995.hp1 NA18998.hp2 NA19010.hp1 NA19011.hp2 NA19060.hp1 NA19066.hp1 NA19068.hp2 NA19080.hp2 NA19085.hp2 NA19091.hp2	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0012 a0019 a0022 a0024 a0025 a0029	a0001c0010 a0001c0012 a0001c0013 others(22): Show a0001c0010 a0001c0012 a0001c0013 a0001c0045 a0001c0046 a0001c0087 a0001c0089 a0002c0020 a0002c0021 a0002c0028 a0002c0036 a0002c0061 a0002c0086 a0003c0001 a0003c0005 a0003c0083 a0004c0008 a0005c0009 a0005c0019 a0012c0035 a0019c0093 a0022c0084 a0024c0091 a0025c0090 a0029c0085	a0001c0010t0002 a0001c0012t0002 a0001c0013t0001 others(25): Show a0001c0010t0002 a0001c0012t0002 a0001c0013t0001 a0001c0045t0002 a0001c0046t0002 a0001c0087t0001 a0001c0089t0002 a0002c0020t0003 a0002c0021t0006 a0002c0028t0003 a0002c0036t0003 a0002c0061t0003 a0002c0086t0003 a0003c0001t0001 a0003c0001t0004 a0003c0001t0008 a0003c0005t0002 a0003c0083t0001 a0004c0008t0008 a0005c0009t0003 a0005c0009t0006 a0005c0019t0003 a0012c0035t0004 a0019c0093t0001 a0022c0084t0004 a0024c0091t0002 a0025c0090t0003 a0029c0085t0003	a0001c0010t0002g0261 a0001c0012t0002g0262 a0001c0013t0001g0153 others(42): Show a0001c0010t0002g0261 a0001c0012t0002g0262 a0001c0013t0001g0153 a0001c0013t0001g0256 a0001c0045t0002g0146 a0001c0045t0002g0234 a0001c0046t0002g0067 a0001c0046t0002g0190 a0001c0087t0001g0236 a0001c0089t0002g0162 a0002c0020t0003g0232 a0002c0020t0003g0233 a0002c0020t0003g0273 a0002c0021t0006g0239 a0002c0021t0006g0255 a0002c0028t0003g0160 a0002c0028t0003g0179 a0002c0028t0003g0228 a0002c0036t0003g0161 a0002c0061t0003g0062 a0002c0086t0003g0260 a0003c0001t0001g0087 a0003c0001t0001g0132 a0003c0001t0001g0145 a0003c0001t0001g0147 a0003c0001t0001g0149 a0003c0001t0004g0266 a0003c0001t0008g0128 a0003c0005t0002g0129 a0003c0005t0002g0131 a0003c0005t0002g0246 a0003c0083t0001g0151 a0004c0008t0008g0263 a0005c0009t0003g0061 a0005c0009t0003g0144 a0005c0009t0006g0148 a0005c0009t0006g0177 a0005c0009t0006g0257 a0005c0019t0003g0152 a0012c0035t0004g0082 a0019c0093t0001g0159 a0022c0084t0004g0254 a0024c0091t0002g0174 a0025c0090t0003g0130 a0029c0085t0003g0238	45	308	0.1461	-20	c.653 others(35): Show c.653+274_653+293delTTCCTTCCTTCCTTCCTTCC	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	2/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACB_chr12_109111587_109273226	109188171	CTCCTTCC others(13): Show CTCCTTCCTTCCTTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0005 a0002c0006t0005	a0002c0006t0005g0284 a0002c0006t0005g0284	1	308	0.0033	-20	c.214 others(35): Show c.2144+53_2144+72delTTCCTTCCTTCCTTCCTTCC	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	13/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACB_chr12_109111587_109273226	109210196	TATGTATA others(13): Show TATGTATATATGTATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02559.hp1 HG06807.hp2 HG02280.hp2 HG02559.hp1 HG06807.hp2	a0001 a0007 a0015 a0001 a0007 a0015	a0001c0064 a0007c0037 a0015c0119 a0001c0064 a0007c0037 a0015c0119	a0001c0064t0009 a0007c0037t0004 a0015c0119t0004 a0001c0064t0009 a0007c0037t0004 a0015c0119t0004	a0001c0064t0009g0184 a0007c0037t0004g0073 a0015c0119t0004g0169 a0001c0064t0009g0184 a0007c0037t0004g0073 a0015c0119t0004g0169	3	308	0.0097	-20	c.324 others(37): Show c.3249+845_3249+864delTGTATATATGTATATATACA	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	21/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACAD11_chr3_132553141_132664809	132621770	CTACCTGT others(13): Show CTACCTGTCTTTACCAAATGA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG00609.hp2 others(200): Show HG00099.hp1 HG00323.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00673.hp2 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01071.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01256.hp1 HG01258.hp2 HG01261.hp2 HG01433.hp1 HG01516.hp1 HG01517.hp1 HG01891.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02074.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03704.hp2 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18944.hp2 NA18946.hp2 NA18948.hp1 NA18950.hp2 NA18952.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18962.hp1 NA18962.hp2 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18972.hp2 NA18973.hp1 NA18974.hp2 NA18977.hp1 NA18982.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp1 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18989.hp1 NA18992.hp2 NA18995.hp1 NA18997.hp1 NA18998.hp1 NA18998.hp2 NA19000.hp2 NA19001.hp1 NA19002.hp1 NA19006.hp1 NA19007.hp2 NA19009.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19058.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp2 NA19081.hp1 NA19082.hp1 NA19082.hp2 NA19084.hp2 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0009	a0001c0001 a0001c0006 a0001c0008 others(9): Show a0001c0001 a0001c0006 a0001c0008 a0001c0009 a0001c0010 a0002c0002 a0002c0005 a0003c0003 a0004c0007 a0005c0015 a0006c0014 a0009c0013	a0001c0001t0001 a0001c0001t0002 a0001c0006t0001 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0006t0001 a0001c0006t0004 a0001c0008t0001 a0001c0009t0001 a0001c0010t0001 a0002c0002t0001 a0002c0005t0001 a0003c0003t0001 a0004c0007t0001 a0005c0015t0001 a0006c0014t0001 a0009c0013t0001	a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 others(184): Show a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0135 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0006t0001g0180 a0001c0006t0001g0181 a0001c0006t0004g0179 a0001c0008t0001g0132 a0001c0008t0001g0134 a0001c0009t0001g0234 a0001c0010t0001g0196 a0001c0010t0001g0197 a0002c0002t0001g0003 a0002c0002t0001g0006 a0002c0002t0001g0012 a0002c0002t0001g0136 a0002c0002t0001g0137 a0002c0002t0001g0138 a0002c0002t0001g0139 a0002c0002t0001g0140 a0002c0002t0001g0141 a0002c0002t0001g0144 a0002c0002t0001g0145 a0002c0002t0001g0147 a0002c0002t0001g0149 a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0156 a0002c0002t0001g0157 a0002c0002t0001g0158 a0002c0002t0001g0159 a0002c0002t0001g0160 a0002c0002t0001g0172 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0001g0266 a0002c0002t0001g0267 a0002c0002t0001g0268 a0002c0005t0001g0142 a0002c0005t0001g0143 a0002c0005t0001g0153 a0002c0005t0001g0265 a0003c0003t0001g0011 a0003c0003t0001g0017 a0003c0003t0001g0018 a0003c0003t0001g0019 a0003c0003t0001g0020 a0003c0003t0001g0176 a0003c0003t0001g0186 a0003c0003t0001g0188 a0003c0003t0001g0255 a0003c0003t0001g0256 a0003c0003t0001g0257 a0003c0003t0001g0258 a0003c0003t0001g0259 a0003c0003t0001g0260 a0003c0003t0001g0261 a0003c0003t0001g0262 a0003c0003t0001g0269 a0003c0003t0001g0270 a0003c0003t0001g0271 a0003c0003t0001g0272 a0003c0003t0001g0273 a0003c0003t0001g0275 a0003c0003t0001g0280 a0004c0007t0001g0146 a0004c0007t0001g0150 a0004c0007t0001g0154 a0005c0015t0001g0148 a0006c0014t0001g0274 a0009c0013t0001g0155	203	316	0.6424	-20	c.119 others(39): Show c.1198-2245_1198-2226delTCATTTGGTAAAGACAGGTA	ACAD11	ENSG00000240303.8	transcript	ENST00000264990.11	protein_coding	9/19			chr3	TogoVar
ACAD8_chr11_134248568_134270855	134269880	GGGACAAG others(13): Show GGGACAAGGGGACTGCCGCGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00544.hp1 HG00558.hp1 others(98): Show HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00639.hp2 HG00642.hp1 HG00733.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01081.hp2 HG01099.hp2 HG01168.hp1 HG01169.hp1 HG01255.hp2 HG01256.hp1 HG01258.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01884.hp1 HG01943.hp2 HG01975.hp1 HG01993.hp2 HG02004.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02129.hp1 HG02148.hp1 HG02165.hp1 HG02300.hp1 HG02523.hp1 HG02602.hp2 HG02735.hp2 HG02738.hp2 HG03017.hp2 HG03492.hp2 HG03654.hp2 HG03669.hp2 HG03704.hp2 HG04184.hp1 HG04199.hp1 HG04228.hp1 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18940.hp1 NA18942.hp1 NA18943.hp1 NA18944.hp2 NA18946.hp1 NA18948.hp2 NA18949.hp1 NA18951.hp1 NA18952.hp2 NA18954.hp2 NA18955.hp2 NA18956.hp2 NA18957.hp1 NA18959.hp2 NA18962.hp1 NA18963.hp2 NA18970.hp1 NA18971.hp2 NA18973.hp1 NA18976.hp2 NA18977.hp1 NA18979.hp1 NA18984.hp1 NA18986.hp1 NA18988.hp1 NA18989.hp1 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA18995.hp1 NA18997.hp1 NA19003.hp1 NA19003.hp2 NA19005.hp2 NA19011.hp2 NA19054.hp2 NA19057.hp2 NA19062.hp1 NA19063.hp1 NA19065.hp2 NA19074.hp1 NA19076.hp2 NA19077.hp1 NA19078.hp1 NA19080.hp1 NA19081.hp1 NA19082.hp1 NA19083.hp2 NA19087.hp2 NA19091.hp2 NA20805.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0022 others(10): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0022 a0001c0001t0001g0037 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0055	101	448	0.2255	-20	c.49 others(31): Show c.4921_*4940delGGACAAGGGGACTGCCGCGT	ACAD8	ENSG00000151498.12	transcript	ENST00000281182.9	protein_coding		4026		chr11	TogoVar
ACAD9_chr3_128874620_128918114	128888106	ACCTAAGA others(13): Show ACCTAAGACTTTTTTCTGAAT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01891.hp2 HG02965.hp2 HG00642.hp1 HG01891.hp2 HG02965.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0088 a0001c0003t0002g0089 a0001c0003t0002g0186 a0001c0003t0002g0088 a0001c0003t0002g0089 a0001c0003t0002g0186	3	372	0.0081	-20	c.244 others(37): Show c.244+3364_244+3383delAAGACTTTTTTCTGAATCCT	ACAD9	ENSG00000177646.20	transcript	ENST00000308982.12	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
ACADL_chr2_210182923_210230447	210184989	GACACACA others(13): Show GACACACACACACACACACAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	274	0.0037	-20	c.39 others(31): Show c.3952_*3971delGTGTGTGTGTGTGTGTGTGT	ACADL	ENSG00000115361.8	transcript	ENST00000233710.4	protein_coding		2933		chr2	TogoVar
ACADSB_chr10_123004006_123063290	123022691	TTATCCTT others(13): Show TTATCCTTAGTAACCCAAGGA	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp1 HG00639.hp2 others(75): Show HG00323.hp1 HG00408.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG01070.hp1 HG01071.hp1 HG01081.hp2 HG01175.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01346.hp1 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01515.hp2 HG01516.hp2 HG01943.hp1 HG01978.hp1 HG01981.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02258.hp2 HG02273.hp2 HG02293.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02683.hp1 HG02735.hp2 HG02738.hp2 HG02970.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03490.hp1 HG03491.hp1 HG03704.hp1 HG03834.hp1 HG04184.hp2 HG04199.hp1 HG04228.hp1 HG06807.hp2 NA18747.hp1 NA18942.hp2 NA18955.hp2 NA18956.hp1 NA18961.hp1 NA18962.hp1 NA18965.hp2 NA18967.hp1 NA18969.hp2 NA18970.hp1 NA18977.hp1 NA18978.hp2 NA18979.hp1 NA18980.hp2 NA18986.hp1 NA18994.hp1 NA18995.hp2 NA19002.hp1 NA19011.hp1 NA19030.hp2 NA19055.hp2 NA19058.hp1 NA19066.hp1 NA19078.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2	a0002 a0003 a0002 a0003	a0002c0003 a0002c0010 a0003c0004 a0002c0003 a0002c0010 a0003c0004	a0002c0003t0001 a0002c0003t0003 a0002c0003t0011 others(16): Show a0002c0003t0001 a0002c0003t0003 a0002c0003t0011 a0002c0003t0019 a0002c0003t0023 a0002c0003t0034 a0002c0003t0035 a0002c0003t0037 a0002c0003t0038 a0002c0003t0040 a0002c0003t0041 a0002c0003t0042 a0002c0003t0052 a0002c0003t0056 a0002c0010t0001 a0003c0004t0006 a0003c0004t0014 a0003c0004t0030 a0003c0004t0044	a0002c0003t0001g0007 a0002c0003t0001g0027 a0002c0003t0001g0028 others(57): Show a0002c0003t0001g0007 a0002c0003t0001g0027 a0002c0003t0001g0028 a0002c0003t0001g0151 a0002c0003t0001g0172 a0002c0003t0001g0173 a0002c0003t0001g0187 a0002c0003t0001g0188 a0002c0003t0001g0192 a0002c0003t0003g0001 a0002c0003t0003g0024 a0002c0003t0003g0025 a0002c0003t0003g0026 a0002c0003t0003g0141 a0002c0003t0003g0145 a0002c0003t0003g0150 a0002c0003t0003g0152 a0002c0003t0003g0153 a0002c0003t0003g0154 a0002c0003t0003g0156 a0002c0003t0003g0160 a0002c0003t0003g0161 a0002c0003t0003g0163 a0002c0003t0003g0165 a0002c0003t0003g0166 a0002c0003t0003g0167 a0002c0003t0003g0168 a0002c0003t0003g0169 a0002c0003t0003g0174 a0002c0003t0003g0176 a0002c0003t0003g0178 a0002c0003t0003g0182 a0002c0003t0011g0142 a0002c0003t0011g0143 a0002c0003t0019g0001 a0002c0003t0019g0164 a0002c0003t0023g0029 a0002c0003t0034g0179 a0002c0003t0035g0171 a0002c0003t0037g0155 a0002c0003t0038g0149 a0002c0003t0040g0170 a0002c0003t0041g0177 a0002c0003t0042g0159 a0002c0003t0052g0175 a0002c0003t0056g0162 a0002c0010t0001g0148 a0003c0004t0006g0146 a0003c0004t0006g0157 a0003c0004t0006g0158 a0003c0004t0006g0180 a0003c0004t0006g0181 a0003c0004t0006g0186 a0003c0004t0006g0189 a0003c0004t0006g0190 a0003c0004t0006g0191 a0003c0004t0014g0183 a0003c0004t0014g0184 a0003c0004t0030g0185 a0003c0004t0044g0144	78	374	0.2086	-20	c.43- others(37): Show c.43-11650_43-11631delCAAGGATATCCTTAGTAACC	ACADSB	ENSG00000196177.13	transcript	ENST00000358776.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
ACADSB_chr10_123004006_123063290	123045131	GTATATAT others(13): Show GTATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02647.hp1 HG03486.hp1 others(1): Show HG01884.hp2 HG02647.hp1 HG03486.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0057 a0001c0001t0001g0009 a0001c0001t0001g0057	4	374	0.0107	-20	c.900 others(35): Show c.900+668_900+687delATATATATATATATATATAT	ACADSB	ENSG00000196177.13	transcript	ENST00000358776.7	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
ACAP3_chr1_1287391_1312930	1288221	CCGTGTCT others(13): Show CCGTGTCTCTGCTCCGTCCCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0192 a0001c0012t0001g0192	1	295	0.0034	-20	c.53 others(31): Show c.5323_*5342delCGGGACGGAGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		4169		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288621	TCCGTCCC others(13): Show TCCGTCCCCCGTGTCTCTGCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	295	0.0034	-20	c.49 others(31): Show c.4923_*4942delGGCAGAGACACGGGGGACGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3769		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288686	TGTCCCTG others(13): Show TGTCCCTGCTCCGTCCCCCGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp2 HG03225.hp1 NA20752.hp2 HG02015.hp2 HG03225.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0021 a0001c0001 a0001c0021	a0001c0001t0001 a0001c0001t0005 a0001c0021t0001 a0001c0001t0001 a0001c0001t0005 a0001c0021t0001	a0001c0001t0001g0003 a0001c0001t0005g0219 a0001c0021t0001g0085 a0001c0001t0001g0003 a0001c0001t0005g0219 a0001c0021t0001g0085	3	295	0.0102	-20	c.48 others(31): Show c.4858_*4877delTCGGGGGACGGAGCAGGGAC	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3704		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288690	CCTGCTCC others(13): Show CCTGCTCCGTCCCCCGAGTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0021 a0001c0002t0001g0021	1	295	0.0034	-20	c.48 others(31): Show c.4854_*4873delAGACTCGGGGGACGGAGCAG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3700		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288798	TGTCCCTG others(13): Show TGTCCCTGTTCCGTCCCCCGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG02027.hp1 NA18967.hp2 others(1): Show HG00438.hp1 HG02027.hp1 NA18967.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0004 a0001c0001t0002g0011 a0001c0002t0001g0092 others(1): Show a0001c0001t0002g0004 a0001c0001t0002g0011 a0001c0002t0001g0092 a0001c0002t0001g0106	4	295	0.0136	-20	c.47 others(31): Show c.4746_*4765delTCGGGGGACGGAACAGGGAC	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3592		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288928	TGTCCCTG others(13): Show TGTCCCTGTTCCGTCCCCCGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp2 HG02027.hp1 HG02145.hp2 others(6): Show HG01361.hp2 HG02027.hp1 HG02145.hp2 HG02896.hp1 HG02897.hp1 NA18967.hp2 NA19043.hp1 NA19066.hp1 NA19077.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0005c0018 a0001c0001 a0001c0002 a0005c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0005c0018t0006	a0001c0001t0001g0033 a0001c0001t0001g0105 a0001c0001t0002g0113 others(6): Show a0001c0001t0001g0033 a0001c0001t0001g0105 a0001c0001t0002g0113 a0001c0001t0003g0002 a0001c0002t0001g0090 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0106 a0005c0018t0006g0078	9	295	0.0305	-20	c.46 others(31): Show c.4616_*4635delTCGGGGGACGGAACAGGGAC	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3462		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288932	CCTGTTCC others(13): Show CCTGTTCCGTCCCCCGAGTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	295	0.0034	-20	c.46 others(31): Show c.4612_*4631delAGACTCGGGGGACGGAACAG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3458		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289147	TCCCGTGT others(13): Show TCCCGTGTCCCTGCTCCGTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	295	0.0034	-20	c.43 others(31): Show c.4397_*4416delGGACGGAGCAGGGACACGGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3243		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289375	TCCCGTGT others(13): Show TCCCGTGTCTCTGCTCCGTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	295	0.0034	-20	c.41 others(31): Show c.4169_*4188delGGACGGAGCAGAGACACGGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3015		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289451	TCCCGTGT others(13): Show TCCCGTGTCTCTGCCCCGTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	295	0.0034	-20	c.40 others(31): Show c.4093_*4112delGGACGGGGCAGAGACACGGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2939		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289656	TGTCCCTG others(13): Show TGTCCCTGCTCCGTCCCCCGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0011	1	295	0.0034	-20	c.38 others(31): Show c.3888_*3907delTCGGGGGACGGAGCAGGGAC	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2734		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289707	TCCCGTGT others(13): Show TCCCGTGTCCCTGCTCCGTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	295	0.0034	-20	c.38 others(31): Show c.3837_*3856delGGACGGAGCAGGGACACGGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2683		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1290108	TCCCGTGT others(13): Show TCCCGTGTCTCTGCTCCGTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 NA18964.hp1 HG02922.hp2 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0048 a0001c0001t0002g0120 a0001c0001t0001g0048 a0001c0001t0002g0120	2	295	0.0068	-20	c.34 others(31): Show c.3436_*3455delGGACGGAGCAGAGACACGGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2282		chr1	TogoVar
ACAT1_chr11_108116567_108152603	108132862	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02572.hp2 HG03139.hp1 HG01109.hp1 HG02572.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0046 a0001c0001t0006g0059 a0001c0001t0006g0158 a0001c0001t0006g0046 a0001c0001t0006g0059 a0001c0001t0006g0158	3	386	0.0078	-20	c.120 others(35): Show c.120+915_121-932delAAAAAAAAAAAAAGAAAAAA	ACAT1	ENSG00000075239.14	transcript	ENST00000265838.9	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
ACBD3_chr1_226139679_226191741	226172180	ATTTTCAG others(13): Show ATTTTCAGTGCTAGTCCTGGT	A A	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp2 HG01192.hp2 others(12): Show HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01361.hp1 HG02027.hp1 HG02071.hp2 HG06807.hp2 NA18939.hp1 NA18941.hp2 NA18955.hp2 NA19001.hp1 NA19005.hp1 NA19056.hp2 NA19081.hp1 NA19087.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0010 a0001c0001 a0006c0010	a0001c0001t0002 a0006c0010t0002 a0001c0001t0002 a0006c0010t0002	a0001c0001t0002g0260 a0001c0001t0002g0264 a0001c0001t0002g0270 others(12): Show a0001c0001t0002g0260 a0001c0001t0002g0264 a0001c0001t0002g0270 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0297 a0001c0001t0002g0302 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0002g0313 a0001c0001t0002g0314 a0006c0010t0002g0374	15	396	0.0379	-20	c.287 others(37): Show c.287-6200_287-6181delACCAGGACTAGCACTGAAAA	ACBD3	ENSG00000182827.9	transcript	ENST00000366812.6	protein_coding	1/7			chr1	TogoVar
ACBD5_chr10_27190214_27245797	27193114	CGTGTGTG others(13): Show CGTGTGTGTGTGTGTGTGTGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00597.hp1 HG01070.hp1 others(12): Show HG00544.hp1 HG00597.hp1 HG01070.hp1 HG01071.hp2 HG03669.hp1 HG03927.hp1 HG04115.hp2 NA18970.hp2 NA18982.hp1 NA18992.hp1 NA18994.hp2 NA19085.hp1 NA19091.hp2 NA20805.hp2 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0014 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0003t0001 a0001c0014t0001 a0003c0006t0004	a0001c0001t0001g0240 a0001c0001t0002g0034 a0001c0001t0002g0054 others(12): Show a0001c0001t0001g0240 a0001c0001t0002g0034 a0001c0001t0002g0054 a0001c0001t0002g0070 a0001c0001t0002g0115 a0001c0002t0001g0221 a0001c0003t0001g0002 a0001c0003t0001g0165 a0001c0003t0001g0166 a0001c0003t0001g0321 a0001c0003t0001g0324 a0001c0014t0001g0365 a0003c0006t0004g0132 a0003c0006t0004g0142 a0003c0006t0004g0143	15	384	0.0391	-20	c.42 others(31): Show c.4296_*4315delACACACACACACACACACAC	ACBD5	ENSG00000107897.20	transcript	ENST00000396271.8	protein_coding		2099		chr10	TogoVar
ACBD6_chr1_180283230_180507577	180487068	ACATGACA others(13): Show ACATGACAACTAAATACGATG	A A	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG03831.hp2 HG02602.hp1 HG03831.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0280 a0001c0002t0002g0281 a0001c0002t0002g0280 a0001c0002t0002g0281	2	334	0.0060	-20	c.384 others(37): Show c.384+5181_384+5200delCATCGTATTTAGTTGTCATG	ACBD6	ENSG00000230124.8	transcript	ENST00000367595.4	protein_coding	3/7			chr1	TogoVar
ACER2_chr9_19404009_19457505	19428008	TTTTCCTT others(13): Show TTTTCCTTTCCTTTCCTTTCC	T T	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01074.hp1 HG01081.hp2 others(10): Show HG00738.hp1 HG01074.hp1 HG01081.hp2 HG02258.hp1 HG02280.hp2 HG02451.hp2 HG02559.hp2 HG02622.hp2 HG03098.hp2 HG03139.hp1 HG03516.hp2 HG03579.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0016 a0001c0003t0005	a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0002g0082 others(10): Show a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0002g0082 a0001c0001t0002g0087 a0001c0001t0006g0083 a0001c0001t0006g0085 a0001c0001t0006g0090 a0001c0001t0006g0092 a0001c0001t0008g0299 a0001c0001t0008g0300 a0001c0001t0011g0091 a0001c0001t0016g0093 a0001c0003t0005g0086	13	358	0.0363	-20	c.365 others(37): Show c.365+3220_365+3239delTCCTTTCCTTTCCTTTCCTT	ACER2	ENSG00000177076.6	transcript	ENST00000340967.3	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
ACER3_chr11_76855918_77031797	76950352	CATATATA others(13): Show CATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp1 HG03486.hp1 HG01257.hp2 HG01258.hp1 HG03486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0020 a0002c0002t0001 a0002c0002t0020	a0002c0002t0001g0264 a0002c0002t0001g0289 a0002c0002t0020g0215 a0002c0002t0001g0264 a0002c0002t0001g0289 a0002c0002t0020g0215	3	346	0.0087	-20	c.215 others(37): Show c.215-8587_215-8568delTATATATATATATATATATA	ACER3	ENSG00000078124.13	transcript	ENST00000532485.6	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar

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