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	999323	CTATATAT others(3): Show CTATATATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG02155.hp1 HG02698.hp2 others(7): Show HG00438.hp2 HG02155.hp1 HG02698.hp2 NA18943.hp2 NA18952.hp2 NA18962.hp1 NA18979.hp1 NA19002.hp1 NA19063.hp2 NA19080.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0015 a0001c0001 a0003c0015	a0001c0001t0006 a0001c0001t0010 a0001c0001t0022 others(1): Show a0001c0001t0006 a0001c0001t0010 a0001c0001t0022 a0003c0015t0062	a0001c0001t0006g0075 a0001c0001t0006g0090 a0001c0001t0006g0141 others(7): Show a0001c0001t0006g0075 a0001c0001t0006g0090 a0001c0001t0006g0141 a0001c0001t0006g0162 a0001c0001t0006g0204 a0001c0001t0006g0233 a0001c0001t0010g0298 a0001c0001t0010g0314 a0001c0001t0022g0047 a0003c0015t0062g0212	10	337	0.0297	-10	c.67 others(21): Show c.6747_*6756delTATATATATA	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding		4195		chr17	TogoVar
ABR_chr17_998519_1184981	1023381	ACCACTGC others(3): Show ACCACTGCCTC	A A	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0085 a0001c0002t0085	a0001c0002t0085g0328 a0001c0002t0085g0328	1	337	0.0030	-10	c.179 others(31): Show c.1792-10227_1792-10218delGAGGCAGTGG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	16/22			chr17	TogoVar
ABR_chr17_998519_1184981	1057305	GGTTTGTG others(3): Show GGTTTGTGTGT	G G	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0044 a0001c0001t0036g0044	1	337	0.0030	-10	c.138 others(27): Show c.1382-213_1382-204delACACACAAAC	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	12/22			chr17	TogoVar
ABR_chr17_998519_1184981	1061483	TTGAAAGG others(3): Show TTGAAAGGATC	T T	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0091 a0001c0001t0091	a0001c0001t0091g0286 a0001c0001t0091g0286	1	337	0.0030	-10	c.118 others(29): Show c.1183-2626_1183-2617delGATCCTTTCA	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	10/22			chr17	TogoVar
ABR_chr17_998519_1184981	1061641	GGTTCACA others(3): Show GGTTCACACAA	G G	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0090 a0001c0001t0006g0090	1	337	0.0030	-10	c.118 others(29): Show c.1183-2784_1183-2775delTTGTGTGAAC	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	10/22			chr17	TogoVar
ABR_chr17_998519_1184981	1079788	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00733.hp2 others(47): Show HG00140.hp2 HG00280.hp2 HG00733.hp2 HG01070.hp2 HG01071.hp1 HG01081.hp1 HG01099.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01361.hp1 HG01934.hp2 HG01943.hp1 HG01975.hp1 HG02040.hp2 HG02129.hp1 HG02132.hp2 HG02293.hp2 HG02300.hp1 HG02572.hp1 HG02683.hp1 HG02698.hp2 HG02818.hp1 HG02976.hp1 HG03486.hp2 HG03669.hp1 HG03688.hp1 HG03927.hp2 HG04204.hp1 NA18947.hp2 NA18948.hp1 NA18954.hp1 NA18962.hp1 NA18979.hp2 NA18995.hp1 NA19000.hp2 NA19007.hp1 NA19012.hp1 NA19056.hp2 NA19065.hp1 NA19066.hp2 NA19070.hp2 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19085.hp2 NA20300.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0003c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0012 a0001c0001t0015 a0001c0001t0019 a0001c0001t0021 a0001c0001t0026 a0001c0001t0028 a0001c0001t0030 a0001c0001t0036 a0001c0001t0076 a0001c0001t0081 a0001c0002t0001 a0001c0003t0016 a0003c0015t0062	a0001c0001t0001g0065 a0001c0001t0001g0082 a0001c0001t0001g0087 others(47): Show a0001c0001t0001g0065 a0001c0001t0001g0082 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0173 a0001c0001t0001g0201 a0001c0001t0002g0081 a0001c0001t0002g0126 a0001c0001t0002g0128 a0001c0001t0002g0131 a0001c0001t0002g0144 a0001c0001t0002g0152 a0001c0001t0002g0209 a0001c0001t0002g0223 a0001c0001t0003g0068 a0001c0001t0003g0092 a0001c0001t0003g0130 a0001c0001t0003g0207 a0001c0001t0003g0217 a0001c0001t0003g0237 a0001c0001t0004g0256 a0001c0001t0004g0257 a0001c0001t0004g0263 a0001c0001t0004g0268 a0001c0001t0004g0313 a0001c0001t0004g0319 a0001c0001t0004g0332 a0001c0001t0005g0266 a0001c0001t0005g0270 a0001c0001t0005g0282 a0001c0001t0006g0075 a0001c0001t0006g0086 a0001c0001t0006g0233 a0001c0001t0007g0249 a0001c0001t0007g0326 a0001c0001t0009g0022 a0001c0001t0012g0183 a0001c0001t0015g0265 a0001c0001t0019g0221 a0001c0001t0021g0284 a0001c0001t0026g0030 a0001c0001t0028g0123 a0001c0001t0030g0210 a0001c0001t0036g0044 a0001c0001t0076g0171 a0001c0001t0081g0253 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0003t0016g0163 a0003c0015t0062g0212	50	337	0.1484	-10	c.640 others(25): Show c.640-408_640-399delTTTTTTTTTT	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	5/22			chr17	TogoVar
ABR_chr17_998519_1184981	1087645	GGCCCATC others(3): Show GGCCCATCAAT	G G	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19090.hp2 NA19070.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0082 a0001c0010t0001 a0001c0001t0082 a0001c0010t0001	a0001c0001t0082g0302 a0001c0010t0001g0139 a0001c0001t0082g0302 a0001c0010t0001g0139	2	337	0.0059	-10	c.531 others(27): Show c.531+4010_531+4019delATTGATGGGC	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	4/22			chr17	TogoVar
ABT1_chr6_26591953_26605739	26602200	GCATGGTG others(3): Show GCATGGTGTGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	410	0.0024	-10	c.35 others(21): Show c.3556_*3565delCATGGTGTGT	ABT1	ENSG00000146109.5	transcript	ENST00000274849.3	protein_coding		1462		chr6	TogoVar
ABTB1_chr3_127667952_127685926	127673692	CCTGGTGC others(3): Show CCTGGTGCTGA	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02486.hp2 HG02818.hp1 others(4): Show HG02280.hp2 HG02486.hp2 HG02818.hp1 HG02976.hp2 HG03209.hp2 NA20129.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0009 a0001c0001t0003g0009	7	440	0.0159	-10	c.56+ others(23): Show c.56+615_56+624delGTGCTGACTG	ABTB1	ENSG00000114626.18	transcript	ENST00000232744.13	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
ABTB2_chr11_34145987_34363010	34214532	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0142 a0001c0005t0004g0142	1	246	0.0041	-10	c.884 others(27): Show c.884-9852_884-9843delAAAAAAAAAA	ABTB2	ENSG00000166016.6	transcript	ENST00000435224.3	protein_coding	1/16			chr11	TogoVar
ABTB2_chr11_34145987_34363010	34226204	TAAAAAAA others(3): Show TAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0011 a0002c0002t0011	a0002c0002t0011g0241 a0002c0002t0011g0241	1	246	0.0041	-10	c.884 others(29): Show c.884-21524_884-21515delTTTTTTTTTT	ABTB2	ENSG00000166016.6	transcript	ENST00000435224.3	protein_coding	1/16			chr11	TogoVar
ABTB2_chr11_34145987_34363010	34248096	TAAAAAAA others(3): Show TAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0170 a0001c0001t0003g0170	1	246	0.0041	-10	c.884 others(29): Show c.884-43416_884-43407delTTTTTTTTTT	ABTB2	ENSG00000166016.6	transcript	ENST00000435224.3	protein_coding	1/16			chr11	TogoVar
ABTB2_chr11_34145987_34363010	34274158	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00642.hp2 HG00733.hp1 others(17): Show HG00099.hp2 HG00642.hp2 HG00733.hp1 HG01106.hp1 HG01123.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01358.hp2 HG01978.hp1 HG02004.hp2 HG02132.hp1 HG02145.hp2 HG02273.hp2 HG02723.hp1 HG02970.hp2 HG03017.hp1 HG03225.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(17): Show a0001c0001t0001g0003 a0001c0001t0001g0035 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0003g0164 a0001c0001t0003g0166 a0001c0001t0003g0180 a0001c0001t0016g0141 a0001c0012t0001g0044 a0002c0002t0002g0191 a0002c0002t0002g0202 a0002c0017t0028g0222 a0003c0003t0010g0165	20	246	0.0813	-10	c.884 others(29): Show c.884-69478_884-69469delTTTTTTTTTT	ABTB2	ENSG00000166016.6	transcript	ENST00000435224.3	protein_coding	1/16			chr11	TogoVar
ABTB2_chr11_34145987_34363010	34296486	GGTATAAC others(3): Show GGTATAACCCT	G G	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA19067.hp1 NA18972.hp2 NA19067.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0050 a0002c0002t0002g0236 a0001c0001t0001g0050 a0002c0002t0002g0236	2	246	0.0081	-10	c.883 others(29): Show c.883+60205_883+60214delAGGGTTATAC	ABTB2	ENSG00000166016.6	transcript	ENST00000435224.3	protein_coding	1/16			chr11	TogoVar
ABTB2_chr11_34145987_34363010	34325950	AAAAATAA others(3): Show AAAAATAAAAT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00738.hp1 HG01257.hp1 others(17): Show HG00438.hp1 HG00738.hp1 HG01257.hp1 HG01258.hp2 HG02004.hp1 HG02055.hp2 HG02155.hp1 HG02572.hp1 HG02683.hp2 HG02723.hp2 HG02922.hp1 HG03098.hp1 HG03098.hp2 HG03209.hp2 HG03453.hp2 HG03471.hp1 HG03831.hp2 NA19000.hp1 NA19002.hp2 NA20752.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0005 a0002c0002 others(1): Show a0001c0001 a0001c0005 a0002c0002 a0003c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0015 a0001c0001t0019 a0001c0001t0021 a0001c0005t0022 a0002c0002t0002 a0003c0008t0014	a0001c0001t0001g0008 a0001c0001t0001g0019 a0001c0001t0001g0024 others(17): Show a0001c0001t0001g0008 a0001c0001t0001g0019 a0001c0001t0001g0024 a0001c0001t0001g0087 a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0158 a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0006g0020 a0001c0001t0015g0157 a0001c0001t0019g0021 a0001c0001t0021g0187 a0001c0005t0022g0159 a0002c0002t0002g0189 a0002c0002t0002g0194 a0002c0002t0002g0196 a0002c0002t0002g0220 a0003c0008t0014g0022	20	246	0.0813	-10	c.883 others(29): Show c.883+30741_883+30750delATTTTATTTT	ABTB2	ENSG00000166016.6	transcript	ENST00000435224.3	protein_coding	1/16			chr11	TogoVar
ABTB2_chr11_34145987_34363010	34360525	AATATATA others(3): Show AATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0010 a0003c0003t0010	a0003c0003t0010g0165 a0003c0003t0010g0165	1	246	0.0041	-10	c.-29 others(21): Show c.-2952_-2943delATATATATAT	ABTB2	ENSG00000166016.6	transcript	ENST00000435224.3	protein_coding		2516		chr11	TogoVar
ABTB3_chr12_107313434_107664642	107335286	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01168.hp2 HG01978.hp1 others(10): Show HG01081.hp1 HG01168.hp2 HG01978.hp1 HG02109.hp2 HG02257.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02896.hp1 HG02965.hp1 HG03041.hp1 HG03225.hp1 NA18906.hp1	a0001 a0003 a0004 others(3): Show a0001 a0003 a0004 a0007 a0012 a0017	a0001c0001 a0001c0003 a0001c0012 others(7): Show a0001c0001 a0001c0003 a0001c0012 a0003c0004 a0003c0006 a0003c0008 a0004c0005 a0007c0010 a0012c0025 a0017c0028	a0001c0001t0002 a0001c0001t0033 a0001c0003t0002 others(9): Show a0001c0001t0002 a0001c0001t0033 a0001c0003t0002 a0001c0012t0027 a0003c0004t0001 a0003c0006t0005 a0003c0008t0001 a0004c0005t0009 a0007c0010t0003 a0007c0010t0005 a0012c0025t0002 a0017c0028t0004	a0001c0001t0002g0042 a0001c0001t0002g0152 a0001c0001t0033g0077 others(10): Show a0001c0001t0002g0042 a0001c0001t0002g0152 a0001c0001t0033g0077 a0001c0003t0002g0095 a0001c0012t0027g0023 a0003c0004t0001g0022 a0003c0006t0005g0137 a0003c0008t0001g0021 a0004c0005t0009g0103 a0007c0010t0003g0162 a0007c0010t0005g0090 a0012c0025t0002g0079 a0017c0028t0004g0044	13	186	0.0699	-10	c.113 others(31): Show c.1135+15242_1135+15251delAAAAAAAAAA	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107377414	AGTGTGTG others(3): Show AGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG02615.hp2 HG03017.hp1 others(3): Show HG00140.hp1 HG02615.hp2 HG03017.hp1 HG03453.hp2 NA20129.hp1 NA20300.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0006	a0001c0001 a0002c0002 a0002c0015 others(3): Show a0001c0001 a0002c0002 a0002c0015 a0003c0008 a0005c0016 a0006c0032	a0001c0001t0014 a0002c0002t0004 a0002c0015t0001 others(3): Show a0001c0001t0014 a0002c0002t0004 a0002c0015t0001 a0003c0008t0011 a0005c0016t0003 a0006c0032t0008	a0001c0001t0014g0154 a0002c0002t0004g0116 a0002c0015t0001g0043 others(3): Show a0001c0001t0014g0154 a0002c0002t0004g0116 a0002c0015t0001g0043 a0003c0008t0011g0153 a0005c0016t0003g0161 a0006c0032t0008g0160	6	186	0.0323	-10	c.113 others(31): Show c.1135+57366_1135+57375delGTGTGTGTGT	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107389846	TTGTGTGT others(3): Show TTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01243.hp1 HG01496.hp2 others(2): Show HG01074.hp2 HG01243.hp1 HG01496.hp2 HG01943.hp2 HG03834.hp2	a0002 a0009 a0002 a0009	a0002c0009 a0002c0031 a0009c0034 a0002c0009 a0002c0031 a0009c0034	a0002c0009t0003 a0002c0009t0029 a0002c0031t0003 others(1): Show a0002c0009t0003 a0002c0009t0029 a0002c0031t0003 a0009c0034t0003	a0002c0009t0003g0064 a0002c0009t0003g0065 a0002c0009t0029g0069 others(2): Show a0002c0009t0003g0064 a0002c0009t0003g0065 a0002c0009t0029g0069 a0002c0031t0003g0066 a0009c0034t0003g0070	5	186	0.0269	-10	c.113 others(31): Show c.1135+69799_1135+69808delGTGTGTGTGT	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107433296	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0015 a0015	a0015c0022 a0015c0022	a0015c0022t0003 a0015c0022t0003	a0015c0022t0003g0048 a0015c0022t0003g0048	1	186	0.0054	-10	c.113 others(31): Show c.1136-87172_1136-87163delAAAAAAAAAA	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107464204	AGAGTGTG others(3): Show AGAGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0006 a0006	a0006c0032 a0006c0032	a0006c0032t0008 a0006c0032t0008	a0006c0032t0008g0160 a0006c0032t0008g0160	1	186	0.0054	-10	c.113 others(31): Show c.1136-56281_1136-56272delAGTGTGTGTG	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107464206	AGTGTGTG others(3): Show AGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00609.hp2 HG00621.hp2 others(46): Show HG00280.hp1 HG00609.hp2 HG00621.hp2 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01168.hp1 HG01257.hp2 HG01884.hp1 HG01884.hp2 HG01978.hp1 HG01993.hp2 HG02055.hp2 HG02056.hp2 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02559.hp2 HG02602.hp1 HG02615.hp1 HG02735.hp1 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG03041.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03710.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18954.hp1 NA18981.hp1 NA18983.hp1 NA19030.hp2 NA19063.hp1 NA19065.hp2 NA19070.hp2 NA19086.hp2 NA20129.hp1 NA20752.hp1 NA20752.hp2 NA20905.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0006 a0007 a0014 a0015	a0001c0001 a0001c0003 a0001c0011 others(13): Show a0001c0001 a0001c0003 a0001c0011 a0001c0012 a0001c0030 a0002c0002 a0002c0009 a0003c0004 a0003c0006 a0003c0008 a0003c0021 a0004c0005 a0006c0014 a0007c0010 a0014c0023 a0015c0022	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(31): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0021 a0001c0001t0024 a0001c0003t0002 a0001c0003t0005 a0001c0003t0006 a0001c0011t0006 a0001c0012t0001 a0001c0030t0002 a0002c0002t0001 a0002c0002t0004 a0002c0002t0007 a0002c0002t0010 a0002c0002t0012 a0002c0002t0017 a0002c0009t0003 a0003c0004t0001 a0003c0004t0003 a0003c0004t0011 a0003c0004t0016 a0003c0006t0005 a0003c0008t0001 a0003c0008t0002 a0003c0008t0011 a0003c0021t0006 a0004c0005t0008 a0006c0014t0008 a0007c0010t0003 a0007c0010t0005 a0014c0023t0006 a0015c0022t0003	a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 others(46): Show a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0058 a0001c0001t0002g0084 a0001c0001t0002g0088 a0001c0001t0002g0093 a0001c0001t0002g0098 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0108 a0001c0001t0002g0157 a0001c0001t0004g0046 a0001c0001t0006g0100 a0001c0001t0021g0025 a0001c0001t0024g0056 a0001c0003t0002g0146 a0001c0003t0005g0136 a0001c0003t0006g0147 a0001c0003t0006g0148 a0001c0011t0006g0101 a0001c0012t0001g0047 a0001c0030t0002g0104 a0002c0002t0001g0120 a0002c0002t0001g0125 a0002c0002t0004g0110 a0002c0002t0004g0112 a0002c0002t0007g0179 a0002c0002t0010g0173 a0002c0002t0012g0177 a0002c0002t0012g0180 a0002c0002t0017g0167 a0002c0009t0003g0071 a0003c0004t0001g0040 a0003c0004t0003g0017 a0003c0004t0011g0155 a0003c0004t0016g0005 a0003c0006t0005g0137 a0003c0008t0001g0052 a0003c0008t0002g0092 a0003c0008t0011g0153 a0003c0021t0006g0151 a0004c0005t0008g0009 a0006c0014t0008g0126 a0007c0010t0003g0162 a0007c0010t0005g0090 a0007c0010t0005g0150 a0014c0023t0006g0099 a0015c0022t0003g0048	49	186	0.2634	-10	c.113 others(31): Show c.1136-56236_1136-56227delGTGTGTGTGT	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107469956	CTTTCTTT others(3): Show CTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0076 a0003c0004t0002g0076	1	186	0.0054	-10	c.113 others(31): Show c.1136-50529_1136-50520delTTCTTTCTTT	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107481883	GTCTCTCT others(3): Show GTCTCTCTCTC	G G	intron_variant intron_variant	MODIFIER	HG02056.hp2 NA18954.hp2 NA19002.hp1 others(4): Show HG02056.hp2 NA18954.hp2 NA19002.hp1 NA19063.hp1 NA19086.hp1 NA19086.hp2 NA19090.hp2	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0010	a0001c0003 a0003c0004 a0005c0007 others(1): Show a0001c0003 a0003c0004 a0005c0007 a0010c0017	a0001c0003t0002 a0001c0003t0005 a0003c0004t0001 others(4): Show a0001c0003t0002 a0001c0003t0005 a0003c0004t0001 a0003c0004t0003 a0003c0004t0016 a0005c0007t0003 a0010c0017t0003	a0001c0003t0002g0159 a0001c0003t0005g0158 a0003c0004t0001g0040 others(4): Show a0001c0003t0002g0159 a0001c0003t0005g0158 a0003c0004t0001g0040 a0003c0004t0003g0017 a0003c0004t0016g0005 a0005c0007t0003g0113 a0010c0017t0003g0111	7	186	0.0376	-10	c.113 others(31): Show c.1136-38568_1136-38559delCTCTCTCTCT	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107508438	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01074.hp1 NA19030.hp1 HG01074.hp1 NA19030.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0004c0005t0009 a0001c0001t0001 a0004c0005t0009	a0001c0001t0001g0006 a0004c0005t0009g0107 a0001c0001t0001g0006 a0004c0005t0009g0107	2	186	0.0108	-10	c.113 others(31): Show c.1136-12028_1136-12019delTTTTTTTTTT	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107521263	TTGTGTGT others(3): Show TTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00621.hp2 HG01074.hp2 others(17): Show HG00099.hp2 HG00621.hp2 HG01074.hp2 HG01243.hp1 HG01496.hp2 HG01884.hp1 HG01943.hp2 HG02074.hp1 HG02155.hp2 HG02451.hp1 HG02698.hp1 HG02723.hp1 HG02738.hp1 HG02965.hp1 HG03017.hp1 HG03139.hp2 HG03834.hp2 NA18522.hp1 NA18522.hp2 NA18964.hp1	a0001 a0002 a0009 others(1): Show a0001 a0002 a0009 a0014	a0001c0001 a0001c0003 a0001c0011 others(6): Show a0001c0001 a0001c0003 a0001c0011 a0002c0002 a0002c0009 a0002c0018 a0002c0031 a0009c0034 a0014c0023	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0003t0005 a0001c0011t0006 a0002c0002t0004 a0002c0002t0007 a0002c0002t0012 a0002c0009t0003 a0002c0009t0029 a0002c0018t0020 a0002c0031t0003 a0009c0034t0003 a0014c0023t0006	a0001c0001t0001g0008 a0001c0001t0001g0058 a0001c0001t0002g0042 others(17): Show a0001c0001t0001g0008 a0001c0001t0001g0058 a0001c0001t0002g0042 a0001c0001t0002g0082 a0001c0001t0006g0100 a0001c0003t0005g0133 a0001c0003t0005g0135 a0001c0003t0005g0143 a0001c0011t0006g0101 a0002c0002t0004g0116 a0002c0002t0004g0127 a0002c0002t0007g0178 a0002c0002t0012g0180 a0002c0009t0003g0064 a0002c0009t0003g0065 a0002c0009t0029g0069 a0002c0018t0020g0168 a0002c0031t0003g0066 a0009c0034t0003g0070 a0014c0023t0006g0099	20	186	0.1075	-10	c.128 others(27): Show c.1285+659_1285+668delGTGTGTGTGT	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107564088	CTCTGTGT others(3): Show CTCTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01993.hp2 NA18981.hp1 others(2): Show HG00609.hp2 HG01993.hp2 NA18981.hp1 NA18982.hp1 NA18999.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0003t0005 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0003t0005 a0002c0002t0001 a0002c0002t0010	a0001c0001t0001g0011 a0001c0001t0003g0027 a0001c0003t0005g0136 others(2): Show a0001c0001t0001g0011 a0001c0001t0003g0027 a0001c0003t0005g0136 a0002c0002t0001g0124 a0002c0002t0010g0173	5	186	0.0269	-10	c.149 others(31): Show c.1491-17062_1491-17053delCTGTGTGTGT	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107578383	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0054 a0001c0001t0028g0054	1	186	0.0054	-10	c.149 others(29): Show c.1491-2747_1491-2738delTTTTTTTTTT	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107608893	TAAATAAA others(3): Show TAAATAAAATA	T T	intron_variant intron_variant	MODIFIER	HG02135.hp2 NA19030.hp1 HG02135.hp2 NA19030.hp1	a0004 a0005 a0004 a0005	a0004c0005 a0005c0007 a0004c0005 a0005c0007	a0004c0005t0009 a0005c0007t0001 a0004c0005t0009 a0005c0007t0001	a0004c0005t0009g0107 a0005c0007t0001g0122 a0004c0005t0009g0107 a0005c0007t0001g0122	2	186	0.0108	-10	c.164 others(29): Show c.1644-1254_1644-1245delATAAAATAAA	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107608968	TATAAAAT others(3): Show TATAAAATAAA	T T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02818.hp1 HG02257.hp2 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0033 a0001c0001t0015 a0001c0001t0033	a0001c0001t0015g0156 a0001c0001t0033g0077 a0001c0001t0015g0156 a0001c0001t0033g0077	2	186	0.0108	-10	c.164 others(29): Show c.1644-1186_1644-1177delATAAAATAAA	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107635870	CCACACAC others(3): Show CCACACACACA	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02559.hp2 HG02647.hp1 others(3): Show HG02257.hp2 HG02559.hp2 HG02647.hp1 HG02818.hp1 HG03225.hp2 HG03453.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0002 a0006c0014 others(1): Show a0001c0001 a0002c0002 a0006c0014 a0006c0032	a0001c0001t0002 a0001c0001t0015 a0001c0001t0033 others(3): Show a0001c0001t0002 a0001c0001t0015 a0001c0001t0033 a0002c0002t0025 a0006c0014t0008 a0006c0032t0008	a0001c0001t0002g0157 a0001c0001t0015g0156 a0001c0001t0033g0077 others(3): Show a0001c0001t0002g0157 a0001c0001t0015g0156 a0001c0001t0033g0077 a0002c0002t0025g0164 a0006c0014t0008g0126 a0006c0032t0008g0160	6	186	0.0323	-10	c.273 others(27): Show c.2737+500_2737+509delACACACACAC	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	12/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107637786	TTGTGTGT others(3): Show TTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00423.hp1 others(48): Show HG00140.hp1 HG00280.hp1 HG00423.hp1 HG00609.hp1 HG00609.hp2 HG01074.hp1 HG01099.hp2 HG01169.hp2 HG01256.hp2 HG01257.hp1 HG01433.hp2 HG01943.hp1 HG01978.hp1 HG01993.hp1 HG01993.hp2 HG02015.hp2 HG02056.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp2 HG02451.hp2 HG02622.hp1 HG02698.hp2 HG02735.hp1 HG02895.hp1 HG03130.hp2 HG03453.hp1 HG03486.hp1 HG03492.hp1 HG03579.hp1 HG03710.hp1 HG03834.hp1 HG03942.hp1 HG03942.hp2 NA18747.hp2 NA18954.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp2 NA18989.hp2 NA18999.hp1 NA18999.hp2 NA19002.hp2 NA19063.hp2 NA19065.hp1 NA19070.hp2 NA19086.hp2 NA19087.hp2 NA20300.hp1 NA20905.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0010 a0011	a0001c0001 a0001c0003 a0001c0012 others(10): Show a0001c0001 a0001c0003 a0001c0012 a0002c0002 a0002c0009 a0002c0015 a0003c0004 a0003c0006 a0004c0005 a0005c0007 a0005c0016 a0010c0017 a0011c0026	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(27): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0021 a0001c0001t0030 a0001c0003t0002 a0001c0003t0005 a0001c0003t0006 a0001c0012t0004 a0002c0002t0001 a0002c0002t0007 a0002c0002t0010 a0002c0002t0017 a0002c0002t0038 a0002c0009t0001 a0002c0009t0003 a0002c0015t0001 a0003c0004t0001 a0003c0004t0003 a0003c0004t0004 a0003c0004t0011 a0003c0004t0016 a0003c0006t0005 a0004c0005t0008 a0005c0007t0001 a0005c0007t0026 a0005c0016t0003 a0010c0017t0003 a0011c0026t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0010 others(48): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0026 a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0003g0027 a0001c0001t0003g0032 a0001c0001t0004g0031 a0001c0001t0006g0102 a0001c0001t0021g0025 a0001c0001t0030g0081 a0001c0003t0002g0134 a0001c0003t0002g0145 a0001c0003t0005g0136 a0001c0003t0005g0143 a0001c0003t0006g0148 a0001c0012t0004g0039 a0002c0002t0001g0060 a0002c0002t0001g0117 a0002c0002t0001g0124 a0002c0002t0001g0125 a0002c0002t0001g0128 a0002c0002t0007g0176 a0002c0002t0007g0186 a0002c0002t0010g0173 a0002c0002t0017g0167 a0002c0002t0038g0184 a0002c0009t0001g0067 a0002c0009t0003g0071 a0002c0015t0001g0043 a0003c0004t0001g0040 a0003c0004t0003g0035 a0003c0004t0003g0038 a0003c0004t0003g0165 a0003c0004t0004g0002 a0003c0004t0004g0003 a0003c0004t0011g0155 a0003c0004t0016g0005 a0003c0006t0005g0130 a0003c0006t0005g0132 a0003c0006t0005g0137 a0004c0005t0008g0007 a0005c0007t0001g0122 a0005c0007t0026g0123 a0005c0016t0003g0063 a0005c0016t0003g0161 a0010c0017t0003g0111 a0011c0026t0001g0036	51	186	0.2742	-10	c.273 others(29): Show c.2737+2435_2737+2444delTGTGTGTGTG	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	12/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107654815	TACACACA others(3): Show TACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00621.hp2 HG01943.hp1 others(3): Show HG00423.hp2 HG00621.hp2 HG01943.hp1 HG01978.hp2 HG03017.hp1 NA19070.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0003 a0002c0002 a0003c0004 a0001c0003 a0002c0002 a0003c0004	a0001c0003t0006 a0002c0002t0004 a0002c0002t0012 others(1): Show a0001c0003t0006 a0002c0002t0004 a0002c0002t0012 a0003c0004t0004	a0001c0003t0006g0148 a0002c0002t0004g0059 a0002c0002t0004g0114 others(3): Show a0001c0003t0006g0148 a0002c0002t0004g0059 a0002c0002t0004g0114 a0002c0002t0004g0116 a0002c0002t0012g0180 a0003c0004t0004g0002	6	186	0.0323	-10	c.310 others(29): Show c.3106-2658_3106-2649delCACACACACA	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACAA2_chr18_49777164_49818533	49788870	AAGGAGAC others(3): Show AAGGAGACCTT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02698.hp2 HG03490.hp2 others(6): Show HG00639.hp1 HG02698.hp2 HG03490.hp2 HG03491.hp1 HG03669.hp2 HG03831.hp1 HG03927.hp1 HG03942.hp1 HG04184.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0010 a0001c0001t0015 a0003c0004t0010 a0001c0001t0010 a0001c0001t0015 a0003c0004t0010	a0001c0001t0010g0010 a0001c0001t0010g0208 a0001c0001t0015g0207 others(3): Show a0001c0001t0010g0010 a0001c0001t0010g0208 a0001c0001t0015g0207 a0003c0004t0010g0204 a0003c0004t0010g0205 a0003c0004t0010g0206	9	434	0.0207	-10	c.884 others(27): Show c.884-1519_884-1510delAAGGTCTCCT	ACAA2	ENSG00000167315.18	transcript	ENST00000285093.15	protein_coding	7/9			chr18	TogoVar
ACAA2_chr18_49777164_49818533	49801785	CATATATA others(3): Show CATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02040.hp2 NA18612.hp2 others(7): Show HG00438.hp1 HG02040.hp2 NA18612.hp2 NA18944.hp1 NA18966.hp1 NA18972.hp1 NA18984.hp1 NA18995.hp2 NA19004.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0159 others(5): Show a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0007g0262	10	434	0.0230	-10	c.183 others(25): Show c.183+892_183+901delATATATATAT	ACAA2	ENSG00000167315.18	transcript	ENST00000285093.15	protein_coding	2/9			chr18	TogoVar
ACACA_chr17_37079992_37411836	37102199	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0092 a0001c0003t0003g0092	1	299	0.0033	-10	c.656 others(29): Show c.6566-4225_6566-4216delAAAAAAAAAA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	52/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37119586	CCAAACAC others(3): Show CCAAACACACA	C C	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0282 a0001c0003t0001g0282	1	299	0.0033	-10	c.627 others(29): Show c.6274+1759_6274+1768delTGTGTGTTTG	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	50/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37119589	AACACACA others(3): Show AACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00438.hp1 others(46): Show HG00099.hp2 HG00323.hp1 HG00438.hp1 HG00544.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp2 HG00642.hp2 HG00735.hp1 HG01069.hp1 HG01070.hp1 HG01099.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01192.hp2 HG01515.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp2 HG02071.hp2 HG02165.hp1 HG02293.hp1 HG02683.hp1 HG02735.hp1 HG03017.hp1 HG03017.hp2 HG03669.hp1 HG04199.hp1 HG04228.hp1 NA18939.hp2 NA18943.hp2 NA18945.hp2 NA18950.hp1 NA18954.hp1 NA18964.hp2 NA18969.hp2 NA18973.hp2 NA18979.hp1 NA18984.hp1 NA18994.hp2 NA19003.hp1 NA19010.hp1 NA19043.hp1 NA19057.hp1 NA19083.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0017 a0001c0001t0024 a0001c0001t0026 a0001c0001t0027 a0001c0002t0001 a0001c0003t0001 a0001c0003t0019 a0001c0003t0030 a0001c0009t0001	a0001c0001t0001g0076 a0001c0001t0001g0099 a0001c0001t0001g0136 others(46): Show a0001c0001t0001g0076 a0001c0001t0001g0099 a0001c0001t0001g0136 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0177 a0001c0001t0001g0184 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0252 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0292 a0001c0001t0001g0294 a0001c0001t0002g0020 a0001c0001t0004g0085 a0001c0001t0004g0166 a0001c0001t0004g0167 a0001c0001t0004g0168 a0001c0001t0004g0170 a0001c0001t0004g0175 a0001c0001t0017g0001 a0001c0001t0024g0214 a0001c0001t0026g0230 a0001c0001t0027g0291 a0001c0002t0001g0103 a0001c0003t0001g0126 a0001c0003t0001g0241 a0001c0003t0001g0258 a0001c0003t0019g0028 a0001c0003t0030g0057 a0001c0009t0001g0261	49	299	0.1639	-10	c.627 others(29): Show c.6274+1756_6274+1765delGTGTGTGTGT	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	50/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37173982	TTATATAT others(3): Show TTATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02451.hp2 HG02976.hp1 others(1): Show HG02258.hp2 HG02451.hp2 HG02976.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0012 a0001c0004t0005 a0001c0001t0001 a0001c0001t0012 a0001c0004t0005	a0001c0001t0001g0096 a0001c0001t0001g0293 a0001c0001t0012g0095 others(1): Show a0001c0001t0001g0096 a0001c0001t0001g0293 a0001c0001t0012g0095 a0001c0004t0005g0276	4	299	0.0134	-10	c.507 others(29): Show c.5079+5268_5079+5277delTATATATATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	41/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37202706	TATATATA others(3): Show TATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00544.hp2 HG00621.hp2 others(16): Show HG00140.hp1 HG00544.hp2 HG00621.hp2 HG00733.hp1 HG01361.hp1 HG02622.hp2 HG02698.hp1 HG03654.hp2 HG03704.hp2 HG04184.hp2 HG04204.hp1 NA18939.hp1 NA18939.hp2 NA18954.hp2 NA18979.hp2 NA18980.hp1 NA19057.hp2 NA19065.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0010 a0001c0015	a0001c0001t0032 a0001c0002t0001 a0001c0003t0001 others(7): Show a0001c0001t0032 a0001c0002t0001 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0006 a0001c0003t0030 a0001c0004t0031 a0001c0010t0001 a0001c0015t0001	a0001c0001t0032g0296 a0001c0002t0001g0164 a0001c0002t0001g0229 others(16): Show a0001c0001t0032g0296 a0001c0002t0001g0164 a0001c0002t0001g0229 a0001c0002t0001g0245 a0001c0002t0001g0249 a0001c0002t0001g0250 a0001c0002t0001g0281 a0001c0003t0001g0054 a0001c0003t0001g0082 a0001c0003t0001g0242 a0001c0003t0002g0038 a0001c0003t0003g0238 a0001c0003t0003g0279 a0001c0003t0006g0134 a0001c0003t0006g0144 a0001c0003t0030g0057 a0001c0004t0031g0129 a0001c0010t0001g0260 a0001c0015t0001g0148	19	299	0.0636	-10	c.405 others(29): Show c.4057-2233_4057-2224delGTGTATATAT	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	33/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37203746	AAAAACAA others(3): Show AAAAACAAAAC	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	299	0.0033	-10	c.405 others(29): Show c.4056+2009_4056+2018delGTTTTGTTTT	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	33/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37260249	CATATATA others(3): Show CATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0238 a0001c0003t0003g0238	1	299	0.0033	-10	c.133 others(27): Show c.1330-729_1330-720delATATATATAT	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	11/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37338097	AAAAATAA others(3): Show AAAAATAAAAT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02723.hp1 HG02735.hp2 others(5): Show HG02257.hp1 HG02723.hp1 HG02735.hp2 HG02818.hp2 HG02965.hp1 HG03195.hp2 HG03486.hp1 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0028 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0028 a0001c0002t0002 a0001c0003t0001	a0001c0001t0001g0138 a0001c0001t0001g0259 a0001c0001t0001g0263 others(5): Show a0001c0001t0001g0138 a0001c0001t0001g0259 a0001c0001t0001g0263 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0028g0264 a0001c0002t0002g0030 a0001c0003t0001g0069	8	299	0.0268	-10	c.85+ others(25): Show c.85+1697_85+1706delATTTTATTTT	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	2/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37346700	TCAAAAAA others(3): Show TCAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00408.hp2 others(83): Show HG00099.hp2 HG00323.hp1 HG00408.hp2 HG00438.hp2 HG00544.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00735.hp1 HG00738.hp1 HG01069.hp1 HG01070.hp1 HG01099.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01192.hp2 HG01255.hp2 HG01261.hp2 HG01346.hp2 HG01361.hp2 HG01496.hp2 HG01515.hp2 HG01952.hp2 HG01981.hp1 HG01993.hp1 HG02004.hp1 HG02015.hp2 HG02071.hp2 HG02258.hp2 HG02280.hp1 HG02293.hp1 HG02451.hp2 HG02523.hp1 HG02559.hp1 HG02630.hp1 HG02683.hp1 HG02735.hp1 HG02895.hp2 HG03017.hp2 HG03098.hp1 HG03209.hp2 HG03239.hp2 HG03471.hp1 HG03516.hp1 HG03669.hp1 HG03704.hp1 HG04199.hp1 HG04228.hp1 NA18747.hp2 NA18906.hp1 NA18943.hp2 NA18945.hp2 NA18946.hp2 NA18950.hp1 NA18954.hp1 NA18964.hp2 NA18969.hp2 NA18972.hp1 NA18973.hp2 NA18975.hp2 NA18977.hp2 NA18979.hp1 NA18984.hp1 NA18994.hp2 NA19000.hp1 NA19003.hp1 NA19005.hp2 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19056.hp2 NA19057.hp1 NA19062.hp1 NA19064.hp1 NA19066.hp2 NA19076.hp2 NA19083.hp1 NA19085.hp2 NA19090.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0009 a0001c0001 a0001c0005 a0001c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0024 a0001c0001t0026 a0001c0001t0027 a0001c0005t0001 a0001c0009t0001	a0001c0001t0001g0059 a0001c0001t0001g0076 a0001c0001t0001g0083 others(83): Show a0001c0001t0001g0059 a0001c0001t0001g0076 a0001c0001t0001g0083 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0136 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0252 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0292 a0001c0001t0001g0294 a0001c0001t0002g0007 a0001c0001t0002g0020 a0001c0001t0002g0022 a0001c0001t0004g0085 a0001c0001t0004g0115 a0001c0001t0004g0159 a0001c0001t0004g0160 a0001c0001t0004g0161 a0001c0001t0004g0162 a0001c0001t0004g0165 a0001c0001t0004g0166 a0001c0001t0004g0167 a0001c0001t0004g0168 a0001c0001t0004g0169 a0001c0001t0004g0170 a0001c0001t0004g0173 a0001c0001t0004g0174 a0001c0001t0004g0175 a0001c0001t0004g0176 a0001c0001t0004g0188 a0001c0001t0006g0189 a0001c0001t0006g0207 a0001c0001t0007g0093 a0001c0001t0007g0140 a0001c0001t0007g0275 a0001c0001t0009g0024 a0001c0001t0009g0031 a0001c0001t0012g0048 a0001c0001t0012g0095 a0001c0001t0015g0226 a0001c0001t0015g0271 a0001c0001t0016g0204 a0001c0001t0016g0235 a0001c0001t0017g0001 a0001c0001t0024g0214 a0001c0001t0026g0230 a0001c0001t0027g0291 a0001c0005t0001g0222 a0001c0009t0001g0261	86	299	0.2876	-10	c.39- others(25): Show c.39-6860_39-6851delTTTTTTTTTG	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	1/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37390140	GTATATAT others(3): Show GTATATATATA	G G	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0294 a0001c0001t0001g0294	1	299	0.0033	-10	c.38+ others(27): Show c.38+16112_38+16121delTATATATATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	1/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37390304	TTATATAT others(3): Show TTATATATATA	T T	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0145 a0001c0001t0003g0145	1	299	0.0033	-10	c.38+ others(27): Show c.38+15948_38+15957delTATATATATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	1/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37407596	GAAGATTC others(3): Show GAAGATTCTGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0091 a0001c0001t0003g0091	1	299	0.0033	-10	c.-13 others(21): Show c.-1307_-1298delGCAGAATCTT	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding		761		chr17	TogoVar
ACACB_chr12_109111587_109273226	109111877	GGAAGGGT others(3): Show GGAAGGGTTTA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG03209.hp1 HG01891.hp2 HG03209.hp1	a0001 a0034 a0001 a0034	a0001c0107 a0034c0102 a0001c0107 a0034c0102	a0001c0107t0012 a0034c0102t0018 a0001c0107t0012 a0034c0102t0018	a0001c0107t0012g0196 a0034c0102t0018g0195 a0001c0107t0012g0196 a0034c0102t0018g0195	2	308	0.0065	-10	c.-48 others(21): Show c.-4836_-4827delGAAGGGTTTA	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding		4709		chr12	TogoVar
ACACB_chr12_109111587_109273226	109128329	TTTTTATT others(3): Show TTTTTATTTTA	T T	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01168.hp1 HG01169.hp2 others(4): Show HG01167.hp2 HG01168.hp1 HG01169.hp2 HG02280.hp2 HG02717.hp1 HG02723.hp2 HG03486.hp2	a0001 a0007 a0013 a0001 a0007 a0013	a0001c0010 a0001c0058 a0001c0064 others(2): Show a0001c0010 a0001c0058 a0001c0064 a0007c0104 a0013c0033	a0001c0010t0001 a0001c0010t0009 a0001c0058t0016 others(3): Show a0001c0010t0001 a0001c0010t0009 a0001c0058t0016 a0001c0064t0009 a0007c0104t0004 a0013c0033t0002	a0001c0010t0001g0188 a0001c0010t0009g0186 a0001c0058t0016g0187 others(4): Show a0001c0010t0001g0188 a0001c0010t0009g0186 a0001c0058t0016g0187 a0001c0064t0009g0184 a0007c0104t0004g0183 a0013c0033t0002g0185 a0013c0033t0002g0189	7	308	0.0227	-10	c.-9- others(27): Show c.-9-11053_-9-11044delATTTTATTTT	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	1/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACB_chr12_109111587_109273226	109140890	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02258.hp1 HG02280.hp1 others(10): Show HG01109.hp2 HG02258.hp1 HG02280.hp1 HG02486.hp1 HG02559.hp1 HG02809.hp1 HG02818.hp1 HG02897.hp1 HG02965.hp2 HG02970.hp2 HG03041.hp2 HG03453.hp2 HG03516.hp2	a0002 a0006 a0008 others(1): Show a0002 a0006 a0008 a0015	a0002c0118 a0006c0031 a0006c0120 others(4): Show a0002c0118 a0006c0031 a0006c0120 a0006c0121 a0006c0122 a0008c0015 a0015c0119	a0002c0118t0005 a0006c0031t0004 a0006c0031t0013 others(5): Show a0002c0118t0005 a0006c0031t0004 a0006c0031t0013 a0006c0120t0003 a0006c0121t0004 a0006c0122t0004 a0008c0015t0005 a0015c0119t0004	a0002c0118t0005g0231 a0006c0031t0004g0002 a0006c0031t0004g0206 others(10): Show a0002c0118t0005g0231 a0006c0031t0004g0002 a0006c0031t0004g0206 a0006c0031t0013g0205 a0006c0120t0003g0043 a0006c0121t0004g0170 a0006c0122t0004g0167 a0008c0015t0005g0057 a0008c0015t0005g0168 a0008c0015t0005g0171 a0008c0015t0005g0172 a0008c0015t0005g0173 a0015c0119t0004g0169	13	308	0.0422	-10	c.653 others(25): Show c.653+847_653+856delTTTTTTTTTT	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	2/52		INFO_REALIGN_3_PRIME	chr12	TogoVar

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