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
ABHD12_chr20_25295214_25395835	25322381	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0300 a0001c0003t0002g0300	1	316	0.0032	19	c.422 others(34): Show c.422+943_422+944insATATATATATATATATATA	ABHD12	ENSG00000100997.20	transcript	ENST00000339157.10	protein_coding	3/12			chr20	TogoVar
ABHD12_chr20_25295214_25395835	25322381	A A	ATATATAT others(12): Show ATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02897.hp1 HG03098.hp2 others(1): Show HG02258.hp2 HG02897.hp1 HG03098.hp2 HG03486.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0268 a0001c0003t0006g0269 a0001c0003t0006g0271 others(1): Show a0001c0003t0006g0268 a0001c0003t0006g0269 a0001c0003t0006g0271 a0001c0003t0006g0272	4	316	0.0127	19	c.422 others(34): Show c.422+943_422+944insAAATATATATATATATATA	ABHD12	ENSG00000100997.20	transcript	ENST00000339157.10	protein_coding	3/12			chr20	TogoVar
ABHD12_chr20_25295214_25395835	25322381	A A	ATATATAT others(12): Show ATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02818.hp2 HG02004.hp2 HG02818.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0007 a0001c0003t0002 a0001c0002t0007 a0001c0003t0002	a0001c0002t0007g0187 a0001c0003t0002g0297 a0001c0002t0007g0187 a0001c0003t0002g0297	2	316	0.0063	19	c.422 others(34): Show c.422+943_422+944insAAAAATATATATATATATA	ABHD12	ENSG00000100997.20	transcript	ENST00000339157.10	protein_coding	3/12			chr20	TogoVar
ABHD12_chr20_25295214_25395835	25322381	A A	ATATATAT others(12): Show ATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01975.hp1 HG01515.hp2 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0290 a0001c0001t0010g0294 a0001c0001t0010g0290 a0001c0001t0010g0294	2	316	0.0063	19	c.422 others(34): Show c.422+943_422+944insAAAAAAAAATATATATATA	ABHD12	ENSG00000100997.20	transcript	ENST00000339157.10	protein_coding	3/12			chr20	TogoVar
ABHD12_chr20_25295214_25395835	25322381	A A	ATATATAT others(12): Show ATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0164 a0001c0002t0002g0164	1	316	0.0032	19	c.422 others(34): Show c.422+943_422+944insAAAAAAAAAAATATATATA	ABHD12	ENSG00000100997.20	transcript	ENST00000339157.10	protein_coding	3/12			chr20	TogoVar
ABHD14A_chr3_51970064_51986196	51975342	T T	TGTAATGT others(12): Show TGTAATGTGTGTGCGCGCGC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0038 a0001c0005t0001g0038	1	344	0.0029	19	c.69+ others(32): Show c.69+139_69+157dupGTAATGTGTGTGCGCGCGC	ABHD14A	ENSG00000248487.10	transcript	ENST00000273596.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
ABHD14B_chr3_51963515_51979049	51975342	T T	TGTAATGT others(12): Show TGTAATGTGTGTGCGCGCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	324	0.0031	19	c.-14 others(30): Show c.-1425_-1407dupGCGCGCGCACACACATTAC	ABHD14B	ENSG00000114779.20	transcript	ENST00000361143.10	protein_coding		1294		chr3	TogoVar
ABHD17C_chr15_80690310_80760621	80705333	T T	TGTGTGTG others(12): Show TGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0181 a0001c0001t0005g0181	1	360	0.0028	19	c.590 others(36): Show c.590+9314_590+9315insGTGTGTGTGTGTGTGTGTG	ABHD17C	ENSG00000136379.12	transcript	ENST00000258884.5	protein_coding	1/2			chr15	TogoVar
ABHD17C_chr15_80690310_80760621	80705333	T T	TTTGTGTG others(12): Show TTTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02056.hp1 NA18941.hp1 NA18950.hp1 HG02056.hp1 NA18941.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0010 a0001c0001t0004 a0001c0001t0010	a0001c0001t0004g0078 a0001c0001t0010g0079 a0001c0001t0010g0080 a0001c0001t0004g0078 a0001c0001t0010g0079 a0001c0001t0010g0080	3	360	0.0083	19	c.590 others(36): Show c.590+9315_590+9316insTGTGTGTGTGTGTGTGTGT	ABHD17C	ENSG00000136379.12	transcript	ENST00000258884.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr15	TogoVar
ABHD18_chr4_127960406_128044953	128025266	T T	TAGCTGGG others(12): Show TAGCTGGGATTATAGGTATG	intron_variant intron_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0043 a0001c0001t0003g0043	1	344	0.0029	19	c.802 others(36): Show c.802-3208_802-3190dupAGCTGGGATTATAGGTATG	ABHD18	ENSG00000164074.17	transcript	ENST00000645843.2	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
ABHD18_chr4_127960406_128044953	128033524	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0058 a0003c0003t0058	a0003c0003t0058g0344 a0003c0003t0058g0344	1	344	0.0029	19	c.134 others(38): Show c.1344-2236_1344-2218dupTTTTTTTTTTTTTTTTTTT	ABHD18	ENSG00000164074.17	transcript	ENST00000645843.2	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
ABHD4_chr14_22593300_22617963	22602952	A A	AGGAGATA others(12): Show AGGAGATATCAAAGATAAAG	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA19078.hp1 NA18975.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0152 a0001c0001t0001g0148 a0001c0001t0001g0152	2	424	0.0047	19	c.113 others(34): Show c.113-414_113-396dupATATCAAAGATAAAGGGAG	ABHD4	ENSG00000100439.11	transcript	ENST00000428304.7	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr14	TogoVar
ABHD6_chr3_58232792_58299734	58271762	C C	CTGTTTTT others(12): Show CTGTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	302	0.0033	19	c.523 others(34): Show c.523+699_523+700insGTTTTTTTTTTTTTTTTTT	ABHD6	ENSG00000163686.15	transcript	ENST00000478253.6	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
ABI1_chr10_26741596_26865958	26773215	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01361.hp1 HG02056.hp1 others(13): Show HG01243.hp2 HG01361.hp1 HG02056.hp1 HG02451.hp2 HG02486.hp2 HG02615.hp2 HG02622.hp2 HG02922.hp2 HG02976.hp1 HG03130.hp1 HG03209.hp2 HG03516.hp1 NA18981.hp2 NA18993.hp1 NA18997.hp1 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006	a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0003g0283 others(13): Show a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0003g0283 a0001c0001t0003g0334 a0001c0001t0003g0339 a0001c0001t0003g0340 a0001c0001t0003g0345 a0001c0001t0003g0346 a0001c0001t0005g0322 a0001c0001t0005g0331 a0001c0001t0005g0332 a0001c0001t0005g0343 a0001c0001t0005g0354 a0001c0001t0006g0347 a0001c0001t0006g0348 a0001c0001t0006g0351	16	358	0.0447	19	c.463 others(36): Show c.463-2127_463-2126insAAAAAAAAAAAAAAAAAAA	ABI1	ENSG00000136754.18	transcript	ENST00000376140.4	protein_coding	3/10			chr10	TogoVar
ABI2_chr2_203323394_203437169	203385139	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	320	0.0031	19	c.480 others(36): Show c.480+2946_480+2947insTTTTTTTTTTTTTTTTTTT	ABI2	ENSG00000138443.17	transcript	ENST00000261018.12	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ABI3BP_chr3_100744156_100998421	100869330	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp2 HG00735.hp2 others(7): Show HG00544.hp1 HG00544.hp2 HG00735.hp2 HG01975.hp1 HG02071.hp2 HG02683.hp2 HG02965.hp2 NA18957.hp1 NA19054.hp2 NA19066.hp1	a0001 a0005 a0008 others(3): Show a0001 a0005 a0008 a0014 a0022 a0024	a0001c0001 a0001c0004 a0005c0011 others(4): Show a0001c0001 a0001c0004 a0005c0011 a0008c0016 a0014c0047 a0022c0058 a0024c0057	a0001c0001t0008 a0001c0001t0018 a0001c0001t0040 others(7): Show a0001c0001t0008 a0001c0001t0018 a0001c0001t0040 a0001c0004t0002 a0001c0004t0003 a0005c0011t0012 a0008c0016t0013 a0014c0047t0010 a0022c0058t0006 a0024c0057t0002	a0001c0001t0008g0201 a0001c0001t0018g0047 a0001c0001t0040g0221 others(7): Show a0001c0001t0008g0201 a0001c0001t0018g0047 a0001c0001t0040g0221 a0001c0004t0002g0024 a0001c0004t0003g0023 a0005c0011t0012g0139 a0008c0016t0013g0014 a0014c0047t0010g0133 a0022c0058t0006g0169 a0024c0057t0002g0130	10	238	0.0420	19	c.911 others(36): Show c.911-2393_911-2375dupAAAAAAAAAAAAAAAAAAA	ABI3BP	ENSG00000154175.19	transcript	ENST00000471714.6	protein_coding	9/67			chr3	TogoVar
ABI3BP_chr3_100744156_100998421	100878789	G G	GCTGTCTA others(12): Show GCTGTCTAGTTCTCACCTGC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(79): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00438.hp2 HG00544.hp2 HG00597.hp2 HG00733.hp1 HG01081.hp1 HG01106.hp2 HG01123.hp2 HG01192.hp1 HG01192.hp2 HG01346.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02027.hp1 HG02071.hp2 HG02083.hp1 HG02109.hp1 HG02132.hp2 HG02293.hp2 HG02559.hp2 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG02922.hp2 HG03130.hp1 HG03239.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03704.hp1 HG03831.hp1 HG03834.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04228.hp1 NA18612.hp1 NA18941.hp2 NA18947.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18966.hp1 NA18967.hp2 NA18970.hp2 NA18977.hp2 NA18986.hp2 NA18993.hp1 NA18994.hp2 NA18995.hp1 NA19009.hp1 NA19009.hp2 NA19062.hp2 NA19063.hp1 NA19066.hp1 NA19081.hp2 NA19082.hp2 NA19086.hp2 NA19087.hp2 NA19091.hp1 NA19240.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0006 a0007 a0011 a0020 a0021 a0025 a0027 a0028 a0030	a0001c0001 a0001c0004 a0001c0005 others(24): Show a0001c0001 a0001c0004 a0001c0005 a0001c0009 a0001c0013 a0001c0022 a0001c0032 a0001c0035 a0002c0002 a0002c0006 a0002c0008 a0002c0010 a0003c0003 a0003c0026 a0003c0027 a0003c0050 a0004c0007 a0004c0015 a0006c0018 a0007c0014 a0011c0021 a0020c0055 a0021c0034 a0025c0031 a0027c0040 a0028c0063 a0030c0052	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(42): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0018 a0001c0001t0021 a0001c0001t0031 a0001c0004t0002 a0001c0004t0003 a0001c0004t0007 a0001c0005t0001 a0001c0009t0001 a0001c0013t0002 a0001c0022t0001 a0001c0032t0005 a0001c0035t0002 a0002c0002t0002 a0002c0002t0003 a0002c0002t0005 a0002c0002t0008 a0002c0002t0027 a0002c0006t0001 a0002c0008t0001 a0002c0008t0032 a0002c0010t0002 a0003c0003t0003 a0003c0003t0005 a0003c0003t0006 a0003c0026t0001 a0003c0027t0002 a0003c0050t0002 a0004c0007t0001 a0004c0007t0004 a0004c0015t0001 a0006c0018t0004 a0006c0018t0039 a0007c0014t0016 a0011c0021t0005 a0020c0055t0005 a0021c0034t0030 a0025c0031t0020 a0027c0040t0029 a0028c0063t0001 a0030c0052t0001	a0001c0001t0002g0038 a0001c0001t0002g0066 a0001c0001t0002g0072 others(79): Show a0001c0001t0002g0038 a0001c0001t0002g0066 a0001c0001t0002g0072 a0001c0001t0002g0080 a0001c0001t0002g0093 a0001c0001t0003g0112 a0001c0001t0005g0077 a0001c0001t0005g0078 a0001c0001t0005g0096 a0001c0001t0006g0170 a0001c0001t0008g0198 a0001c0001t0018g0047 a0001c0001t0018g0082 a0001c0001t0021g0106 a0001c0001t0031g0052 a0001c0004t0002g0021 a0001c0004t0002g0024 a0001c0004t0002g0027 a0001c0004t0003g0023 a0001c0004t0007g0008 a0001c0005t0001g0058 a0001c0005t0001g0062 a0001c0005t0001g0084 a0001c0009t0001g0076 a0001c0009t0001g0086 a0001c0009t0001g0097 a0001c0013t0002g0122 a0001c0022t0001g0019 a0001c0032t0005g0111 a0001c0035t0002g0161 a0002c0002t0002g0053 a0002c0002t0002g0061 a0002c0002t0002g0087 a0002c0002t0002g0104 a0002c0002t0003g0050 a0002c0002t0003g0069 a0002c0002t0005g0057 a0002c0002t0005g0074 a0002c0002t0008g0197 a0002c0002t0008g0228 a0002c0002t0027g0055 a0002c0006t0001g0003 a0002c0006t0001g0103 a0002c0006t0001g0163 a0002c0008t0001g0056 a0002c0008t0001g0059 a0002c0008t0001g0071 a0002c0008t0001g0095 a0002c0008t0001g0098 a0002c0008t0032g0060 a0002c0010t0002g0067 a0002c0010t0002g0101 a0002c0010t0002g0102 a0002c0010t0002g0107 a0002c0010t0002g0165 a0003c0003t0003g0051 a0003c0003t0003g0063 a0003c0003t0003g0088 a0003c0003t0003g0162 a0003c0003t0005g0099 a0003c0003t0006g0168 a0003c0026t0001g0026 a0003c0027t0002g0022 a0003c0050t0002g0121 a0004c0007t0001g0073 a0004c0007t0001g0089 a0004c0007t0001g0094 a0004c0007t0001g0108 a0004c0007t0001g0113 a0004c0007t0004g0238 a0004c0015t0001g0037 a0006c0018t0004g0213 a0006c0018t0039g0200 a0007c0014t0016g0167 a0011c0021t0005g0115 a0011c0021t0005g0117 a0020c0055t0005g0036 a0021c0034t0030g0044 a0025c0031t0020g0045 a0027c0040t0029g0090 a0028c0063t0001g0020 a0030c0052t0001g0035	82	238	0.3445	19	c.697 others(36): Show c.697-2230_697-2229insGCAGGTGAGAACTAGACAG	ABI3BP	ENSG00000154175.19	transcript	ENST00000471714.6	protein_coding	6/67			chr3	TogoVar
ABI3BP_chr3_100744156_100998421	100894938	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01256.hp1 HG01891.hp1 others(4): Show HG00408.hp1 HG01256.hp1 HG01891.hp1 HG01978.hp2 HG03942.hp2 NA18612.hp1 NA18993.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0005 a0001c0056 others(3): Show a0001c0001 a0001c0005 a0001c0056 a0002c0002 a0003c0003 a0004c0007	a0001c0001t0018 a0001c0005t0001 a0001c0056t0025 others(4): Show a0001c0001t0018 a0001c0005t0001 a0001c0056t0025 a0002c0002t0002 a0002c0002t0008 a0003c0003t0003 a0004c0007t0001	a0001c0001t0018g0082 a0001c0005t0001g0058 a0001c0056t0025g0132 others(4): Show a0001c0001t0018g0082 a0001c0005t0001g0058 a0001c0056t0025g0132 a0002c0002t0002g0109 a0002c0002t0008g0197 a0003c0003t0003g0051 a0004c0007t0001g0113	7	238	0.0294	19	c.461 others(36): Show c.461+3805_461+3823dupTTTTTTTTTTTTTTTTTTT	ABI3BP	ENSG00000154175.19	transcript	ENST00000471714.6	protein_coding	4/67			chr3	TogoVar
ABI3BP_chr3_100744156_100998421	100894952	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0011 a0011	a0011c0021 a0011c0021	a0011c0021t0005 a0011c0021t0005	a0011c0021t0005g0117 a0011c0021t0005g0117	1	238	0.0042	19	c.461 others(36): Show c.461+3809_461+3810insGTTTTTTTTTTTTTTTTTT	ABI3BP	ENSG00000154175.19	transcript	ENST00000471714.6	protein_coding	4/67			chr3	TogoVar
ABI3_chr17_49205707_49228225	49225763	C C	CAGGCCAT others(12): Show CAGGCCATGACACACCTGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0010 a0001c0003t0001g0010	1	448	0.0022	19	c.30 others(30): Show c.3048_*3049insAGGCCATGACACACCTGGG	ABI3	ENSG00000108798.9	transcript	ENST00000225941.6	protein_coding		2539		chr17	TogoVar
ABL2_chr1_179094330_179234677	179101996	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0051 a0001c0003t0051	a0001c0003t0051g0017 a0001c0003t0051g0017	1	350	0.0029	19	c.57 others(30): Show c.5703_*5721dupAAAAAAAAAAAAAAAAAAA	ABL2	ENSG00000143322.22	transcript	ENST00000502732.6	protein_coding	12/12	5721		chr1	TogoVar
ABL2_chr1_179094330_179234677	179178401	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01106.hp2 HG01109.hp2 others(9): Show HG00639.hp2 HG01106.hp2 HG01109.hp2 HG01928.hp2 HG02040.hp1 HG02602.hp1 HG03927.hp1 HG03942.hp1 NA18947.hp2 NA18965.hp2 NA19068.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 others(5): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0012 a0001c0001t0026 a0001c0001t0057 a0001c0001t0065 a0001c0001t0071	a0001c0001t0003g0054 a0001c0001t0003g0058 a0001c0001t0003g0095 others(9): Show a0001c0001t0003g0054 a0001c0001t0003g0058 a0001c0001t0003g0095 a0001c0001t0004g0106 a0001c0001t0006g0035 a0001c0001t0006g0104 a0001c0001t0006g0118 a0001c0001t0012g0039 a0001c0001t0026g0120 a0001c0001t0057g0029 a0001c0001t0065g0037 a0001c0001t0071g0101	12	350	0.0343	19	c.158 others(38): Show c.158-45046_158-45028dupTTTTTTTTTTTTTTTTTTT	ABL2	ENSG00000143322.22	transcript	ENST00000502732.6	protein_coding	1/11			chr1	TogoVar
ABLIM1_chr10_114426112_114663275	114568196	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0093 a0001c0001t0093	a0001c0001t0093g0146 a0001c0001t0093g0146	1	256	0.0039	19	c.673 others(36): Show c.673+3082_673+3100dupTTTTTTTTTTTTTTTTTTT	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	4/22			chr10	TogoVar
ABLIM1_chr10_114426112_114663275	114580205	T T	TTATATAT others(12): Show TTATATATTATATATATATA	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA19085.hp2 NA18973.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0022 a0001c0001t0017 a0001c0001t0022	a0001c0001t0017g0047 a0001c0001t0022g0030 a0001c0001t0017g0047 a0001c0001t0022g0030	2	256	0.0078	19	c.380 others(36): Show c.380-4607_380-4606insTATATATATATAATATATA	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	2/22			chr10	TogoVar
ABLIM1_chr10_114426112_114663275	114634129	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02896.hp2 HG03579.hp2 others(5): Show HG02523.hp2 HG02896.hp2 HG03579.hp2 HG03710.hp1 HG03927.hp2 NA18966.hp2 NA18969.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0023 a0001c0001t0123 a0001c0002t0009 others(5): Show a0001c0001t0023 a0001c0001t0123 a0001c0002t0009 a0001c0002t0033 a0001c0002t0095 a0001c0003t0002 a0001c0003t0131 a0001c0004t0011	a0001c0001t0023g0006 a0001c0001t0123g0165 a0001c0002t0009g0164 others(5): Show a0001c0001t0023g0006 a0001c0001t0123g0165 a0001c0002t0009g0164 a0001c0002t0033g0005 a0001c0002t0095g0169 a0001c0003t0002g0166 a0001c0003t0131g0172 a0001c0004t0011g0003	8	256	0.0313	19	c.244 others(38): Show c.244+23809_244+23827dupAAAAAAAAAAAAAAAAAAA	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	1/22			chr10	TogoVar
ABLIM1_chr10_114426112_114663275	114644306	A A	AAAAATAT others(12): Show AAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0007 a0007	a0007c0018 a0007c0018	a0007c0018t0021 a0007c0018t0021	a0007c0018t0021g0020 a0007c0018t0021g0020	1	256	0.0039	19	c.244 others(38): Show c.244+13650_244+13651insATATATATATATATATTTT	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	1/22			chr10	TogoVar
ABLIM2_chr4_7960327_8163813	7980941	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp2 HG00642.hp1 others(22): Show HG00544.hp1 HG00544.hp2 HG00642.hp1 HG01069.hp1 HG01071.hp1 HG01106.hp1 HG01361.hp1 HG01891.hp2 HG02145.hp1 HG02145.hp2 HG02293.hp2 HG02486.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG03130.hp2 HG03453.hp1 HG03486.hp2 HG03942.hp1 NA19000.hp1 NA19066.hp2 NA19067.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0008 a0003c0007 a0005c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0017 a0001c0001t0027 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0003t0003 a0001c0003t0006 a0001c0003t0009 a0001c0004t0001 a0001c0008t0006 a0003c0007t0001 a0005c0006t0006	a0001c0001t0001g0042 a0001c0001t0001g0078 a0001c0001t0001g0117 others(22): Show a0001c0001t0001g0042 a0001c0001t0001g0078 a0001c0001t0001g0117 a0001c0001t0001g0187 a0001c0001t0001g0261 a0001c0001t0002g0110 a0001c0001t0002g0234 a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0003g0264 a0001c0001t0007g0308 a0001c0001t0017g0300 a0001c0001t0027g0315 a0001c0002t0001g0113 a0001c0002t0001g0125 a0001c0002t0002g0115 a0001c0002t0005g0286 a0001c0002t0005g0292 a0001c0003t0003g0030 a0001c0003t0006g0209 a0001c0003t0009g0221 a0001c0004t0001g0249 a0001c0008t0006g0289 a0003c0007t0001g0297 a0005c0006t0006g0205	25	322	0.0776	19	c.182 others(38): Show c.1824+2304_1824+2322dupAAAAAAAAAAAAAAAAAAA	ABLIM2	ENSG00000163995.22	transcript	ENST00000447017.7	protein_coding	20/20			chr4	TogoVar
ABLIM2_chr4_7960327_8163813	8120187	C C	CGTGGCAG others(12): Show CGTGGCAGGAAGCAAGAGCG	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0208 a0001c0001t0004g0208	1	322	0.0031	19	c.11- others(36): Show c.11-13569_11-13551dupCGCTCTTGCTTCCTGCCAC	ABLIM2	ENSG00000163995.22	transcript	ENST00000447017.7	protein_coding	1/20			chr4	TogoVar
ABLIM3_chr5_149136493_149265542	149141360	A A	ACACAAGG others(12): Show ACACAAGGCCTCGTCCATCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00323.hp1 others(173): Show HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00673.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01099.hp1 HG01099.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02056.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02135.hp1 HG02148.hp2 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03017.hp1 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03491.hp1 HG03540.hp1 HG03669.hp2 HG03688.hp2 HG03834.hp1 HG03834.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18747.hp1 NA18747.hp2 NA18942.hp1 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18952.hp2 NA18955.hp2 NA18960.hp1 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18967.hp1 NA18967.hp2 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18995.hp2 NA18998.hp1 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19007.hp2 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19070.hp1 NA19070.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp2 NA19085.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0008 a0001c0009 a0001c0014 a0002c0004 a0002c0005 a0003c0007 a0004c0011 a0005c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016 a0001c0002t0005 a0001c0003t0004 a0001c0006t0011 a0001c0006t0017 a0001c0008t0001 a0001c0009t0007 a0001c0014t0001 a0002c0004t0004 a0002c0005t0008 a0002c0005t0013 a0003c0007t0001 a0004c0011t0001 a0005c0012t0001	a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0019 others(172): Show a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0107 a0001c0001t0001g0112 a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0137 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0148 a0001c0001t0001g0151 a0001c0001t0001g0157 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0176 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0002g0001 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0016 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0030 a0001c0001t0002g0044 a0001c0001t0002g0047 a0001c0001t0002g0052 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0073 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0127 a0001c0001t0002g0132 a0001c0001t0002g0136 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0178 a0001c0001t0002g0203 a0001c0001t0002g0207 a0001c0001t0003g0088 a0001c0001t0003g0108 a0001c0001t0003g0109 a0001c0001t0003g0113 a0001c0001t0003g0115 a0001c0001t0003g0120 a0001c0001t0003g0210 a0001c0001t0003g0213 a0001c0001t0004g0069 a0001c0001t0004g0074 a0001c0001t0004g0078 a0001c0001t0004g0089 a0001c0001t0004g0092 a0001c0001t0004g0093 a0001c0001t0004g0119 a0001c0001t0005g0021 a0001c0001t0005g0022 a0001c0001t0005g0087 a0001c0001t0005g0110 a0001c0001t0006g0034 a0001c0001t0006g0035 a0001c0001t0006g0040 a0001c0001t0006g0094 a0001c0001t0006g0128 a0001c0001t0010g0134 a0001c0001t0012g0111 a0001c0001t0015g0206 a0001c0001t0016g0015 a0001c0002t0005g0075 a0001c0002t0005g0114 a0001c0003t0004g0018 a0001c0003t0004g0122 a0001c0003t0004g0123 a0001c0006t0011g0072 a0001c0006t0017g0071 a0001c0008t0001g0032 a0001c0008t0001g0177 a0001c0009t0007g0038 a0001c0009t0007g0118 a0001c0014t0001g0095 a0002c0004t0004g0014 a0002c0004t0004g0090 a0002c0004t0004g0091 a0002c0005t0008g0116 a0002c0005t0008g0117 a0002c0005t0013g0020 a0003c0007t0001g0147 a0004c0011t0001g0135 a0005c0012t0001g0102	176	258	0.6822	19	c.-38 others(28): Show c.-382_-381insCACAAGGCCTCGTCCATCT	ABLIM3	ENSG00000173210.21	transcript	ENST00000309868.12	protein_coding		132		chr5	TogoVar
ABLIM3_chr5_149136493_149265542	149147069	T T	TCTCTCTC others(12): Show TCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	258	0.0039	19	c.13+ others(34): Show c.13+4961_13+4962insCTCTCTCTCTCTCTCTCTC	ABLIM3	ENSG00000173210.21	transcript	ENST00000309868.12	protein_coding	2/23			chr5	TogoVar
ABLIM3_chr5_149136493_149265542	149150862	T T	TCTCTGTG others(12): Show TCTCTGTGCCTCACTTCCTC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0025 a0001c0001t0002g0025	1	258	0.0039	19	c.13+ others(34): Show c.13+8755_13+8773dupCTCTGTGCCTCACTTCCTC	ABLIM3	ENSG00000173210.21	transcript	ENST00000309868.12	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr5	TogoVar
ABR_chr17_998519_1184981	1022106	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02015.hp1 NA18940.hp1 others(1): Show HG00597.hp2 HG02015.hp1 NA18940.hp1 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0014 a0001c0001 a0001c0014	a0001c0001t0001 a0001c0001t0004 a0001c0001t0021 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0021 a0001c0014t0010	a0001c0001t0001g0148 a0001c0001t0004g0290 a0001c0001t0021g0272 others(1): Show a0001c0001t0001g0148 a0001c0001t0004g0290 a0001c0001t0021g0272 a0001c0014t0010g0307	4	337	0.0119	19	c.179 others(38): Show c.1792-8961_1792-8943dupTTTTTTTTTTTTTTTTTTT	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	16/22			chr17	TogoVar
ABR_chr17_998519_1184981	1025119	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0244 a0001c0002t0012g0244	1	337	0.0030	19	c.179 others(40): Show c.1792-11974_1792-11956dupTTTTTTTTTTTTTTTTTTT	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	16/22			chr17	TogoVar
ABR_chr17_998519_1184981	1079788	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04204.hp2 NA19066.hp1 HG04204.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0203 a0001c0001t0002g0088 a0001c0001t0001g0203 a0001c0001t0002g0088	2	337	0.0059	19	c.640 others(34): Show c.640-417_640-399dupTTTTTTTTTTTTTTTTTTT	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	5/22			chr17	TogoVar
ABT1_chr6_26591953_26605739	26602651	G G	GGACTCAC others(12): Show GGACTCACCAACACTACTAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	410	0.0024	19	c.40 others(30): Show c.4006_*4007insGACTCACCAACACTACTAC	ABT1	ENSG00000146109.5	transcript	ENST00000274849.3	protein_coding		1913		chr6	TogoVar
ABTB2_chr11_34145987_34363010	34194587	A A	AGTAATGC others(12): Show AGTAATGCTGTAAGCTCAGC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG00733.hp1 others(39): Show HG00099.hp1 HG00323.hp2 HG00733.hp1 HG00738.hp2 HG01123.hp2 HG01243.hp1 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01496.hp2 HG01884.hp2 HG02004.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02145.hp1 HG02273.hp2 HG02280.hp2 HG02486.hp1 HG02572.hp1 HG02602.hp2 HG02683.hp1 HG02683.hp2 HG02723.hp1 HG02723.hp2 HG03098.hp2 HG03130.hp1 HG03209.hp2 HG03453.hp1 HG03486.hp1 HG03516.hp1 HG03654.hp1 HG03669.hp1 HG03831.hp2 NA18906.hp1 NA18983.hp2 NA18994.hp1 NA19002.hp2 NA19011.hp1 NA19056.hp1 NA20300.hp1 NA21309.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0005 a0001c0007 others(5): Show a0001c0001 a0001c0005 a0001c0007 a0002c0002 a0003c0003 a0003c0008 a0004c0006 a0005c0011	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(12): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0021 a0001c0005t0022 a0001c0007t0001 a0002c0002t0002 a0003c0003t0006 a0003c0008t0014 a0004c0006t0012 a0005c0011t0001	a0001c0001t0001g0003 a0001c0001t0001g0035 a0001c0001t0001g0043 others(39): Show a0001c0001t0001g0003 a0001c0001t0001g0035 a0001c0001t0001g0043 a0001c0001t0001g0070 a0001c0001t0001g0074 a0001c0001t0001g0089 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0127 a0001c0001t0001g0138 a0001c0001t0001g0143 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0158 a0001c0001t0003g0162 a0001c0001t0003g0171 a0001c0001t0003g0173 a0001c0001t0003g0180 a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0005g0018 a0001c0001t0007g0039 a0001c0001t0007g0075 a0001c0001t0015g0157 a0001c0001t0016g0141 a0001c0001t0017g0129 a0001c0001t0021g0187 a0001c0005t0022g0159 a0001c0007t0001g0066 a0002c0002t0002g0189 a0002c0002t0002g0193 a0002c0002t0002g0205 a0002c0002t0002g0230 a0002c0002t0002g0235 a0003c0003t0006g0094 a0003c0008t0014g0022 a0004c0006t0012g0237 a0005c0011t0001g0064	42	246	0.1707	19	c.124 others(38): Show c.1244+2719_1244+2737dupGCTGAGCTTACAGCATTAC	ABTB2	ENSG00000166016.6	transcript	ENST00000435224.3	protein_coding	3/16			chr11	TogoVar
ABTB2_chr11_34145987_34363010	34209600	G G	GGAGGGGT others(12): Show GGAGGGGTAGGGGTGGGGGT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0160 a0001c0001t0020g0160	1	246	0.0041	19	c.884 others(36): Show c.884-4929_884-4911dupACCCCCACCCCTACCCCTC	ABTB2	ENSG00000166016.6	transcript	ENST00000435224.3	protein_coding	1/16			chr11	TogoVar
ABTB2_chr11_34145987_34363010	34209692	G G	GGGTGAGG others(12): Show GGGTGAGGGGTAGGGGTGGA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0069 a0001c0005t0004g0069	1	246	0.0041	19	c.884 others(36): Show c.884-5021_884-5003dupTCCACCCCTACCCCTCACC	ABTB2	ENSG00000166016.6	transcript	ENST00000435224.3	protein_coding	1/16			chr11	TogoVar
ABTB3_chr12_107313434_107664642	107389004	C C	CTTTTTAA others(12): Show CTTTTTAATTCTAAAAAGTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00423.hp2 others(46): Show HG00140.hp1 HG00280.hp2 HG00423.hp2 HG01074.hp1 HG01169.hp2 HG01175.hp2 HG01256.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01943.hp1 HG01993.hp1 HG02015.hp2 HG02055.hp1 HG02074.hp1 HG02109.hp1 HG02155.hp2 HG02559.hp1 HG02602.hp2 HG02622.hp2 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02895.hp1 HG02970.hp2 HG03017.hp1 HG03225.hp1 HG03453.hp1 HG03486.hp2 HG03540.hp2 HG03710.hp2 HG03834.hp1 HG04204.hp2 NA18747.hp2 NA18954.hp2 NA18964.hp2 NA18979.hp2 NA18981.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18989.hp1 NA18999.hp1 NA19002.hp1 NA19065.hp2 NA19090.hp1 NA20752.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0010 a0013 a0016	a0001c0001 a0001c0003 a0002c0002 others(12): Show a0001c0001 a0001c0003 a0002c0002 a0002c0015 a0003c0004 a0003c0006 a0003c0008 a0004c0005 a0005c0007 a0005c0016 a0006c0014 a0008c0013 a0010c0017 a0013c0024 a0016c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0030 others(31): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0030 a0001c0003t0002 a0001c0003t0005 a0001c0003t0006 a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0002c0002t0007 a0002c0002t0010 a0002c0002t0023 a0002c0002t0034 a0002c0002t0036 a0002c0015t0001 a0002c0015t0007 a0003c0004t0002 a0003c0004t0003 a0003c0004t0004 a0003c0004t0011 a0003c0006t0002 a0003c0006t0005 a0003c0008t0001 a0004c0005t0008 a0004c0005t0009 a0004c0005t0032 a0005c0007t0003 a0005c0007t0026 a0005c0016t0003 a0006c0014t0037 a0008c0013t0019 a0010c0017t0003 a0013c0024t0001 a0016c0019t0008	a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0002g0082 others(46): Show a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0002g0082 a0001c0001t0002g0108 a0001c0001t0002g0152 a0001c0001t0030g0081 a0001c0003t0002g0141 a0001c0003t0002g0145 a0001c0003t0005g0143 a0001c0003t0006g0140 a0002c0002t0001g0117 a0002c0002t0001g0118 a0002c0002t0003g0062 a0002c0002t0004g0059 a0002c0002t0004g0061 a0002c0002t0004g0110 a0002c0002t0004g0112 a0002c0002t0004g0116 a0002c0002t0007g0172 a0002c0002t0007g0178 a0002c0002t0007g0179 a0002c0002t0010g0173 a0002c0002t0023g0121 a0002c0002t0034g0115 a0002c0002t0036g0170 a0002c0015t0001g0043 a0002c0015t0007g0166 a0003c0004t0002g0076 a0003c0004t0003g0038 a0003c0004t0004g0002 a0003c0004t0004g0003 a0003c0004t0011g0155 a0003c0006t0002g0139 a0003c0006t0005g0130 a0003c0008t0001g0021 a0004c0005t0008g0007 a0004c0005t0008g0053 a0004c0005t0009g0080 a0004c0005t0009g0097 a0004c0005t0032g0091 a0005c0007t0003g0113 a0005c0007t0003g0119 a0005c0007t0026g0123 a0005c0016t0003g0063 a0006c0014t0037g0171 a0008c0013t0019g0185 a0010c0017t0003g0111 a0013c0024t0001g0019 a0016c0019t0008g0020	49	186	0.2634	19	c.113 others(40): Show c.1135+68929_1135+68930insTTTTTAATTCTAAAAAGTT	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	1/16			chr12	TogoVar
ABTB3_chr12_107313434_107664642	107626343	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	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	19	c.263 others(38): Show c.2631+6181_2631+6199dupTTTTTTTTTTTTTTTTTTT	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	11/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107650079	T T	TGTCCAGG others(12): Show TGTCCAGGTGCCTGGCTGAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00280.hp2 others(53): Show HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00423.hp1 HG00621.hp1 HG01074.hp2 HG01169.hp2 HG01257.hp2 HG01361.hp2 HG01943.hp2 HG01978.hp1 HG01993.hp1 HG01993.hp2 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02109.hp1 HG02155.hp1 HG02155.hp2 HG02602.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02895.hp2 HG02896.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03225.hp2 HG03453.hp2 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03710.hp1 HG03834.hp2 HG03942.hp1 HG04204.hp2 NA18747.hp1 NA18942.hp1 NA18954.hp2 NA18979.hp2 NA18981.hp1 NA18989.hp1 NA18989.hp2 NA18999.hp1 NA18999.hp2 NA19002.hp1 NA19030.hp1 NA19063.hp1 NA19070.hp1 NA19090.hp2 NA20300.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0009 a0010 a0016	a0001c0001 a0001c0003 a0001c0011 others(14): Show a0001c0001 a0001c0003 a0001c0011 a0002c0002 a0002c0009 a0002c0031 a0003c0004 a0003c0006 a0004c0005 a0005c0007 a0005c0016 a0006c0014 a0006c0032 a0008c0013 a0009c0034 a0010c0017 a0016c0019	a0001c0001t0003 a0001c0001t0021 a0001c0001t0024 others(29): Show a0001c0001t0003 a0001c0001t0021 a0001c0001t0024 a0001c0003t0005 a0001c0003t0035 a0001c0011t0031 a0002c0002t0003 a0002c0002t0010 a0002c0002t0018 a0002c0002t0023 a0002c0002t0025 a0002c0002t0034 a0002c0009t0003 a0002c0031t0003 a0003c0004t0003 a0003c0004t0022 a0003c0006t0005 a0004c0005t0008 a0004c0005t0009 a0004c0005t0013 a0004c0005t0032 a0005c0007t0003 a0005c0007t0026 a0005c0016t0003 a0006c0014t0008 a0006c0014t0037 a0006c0032t0008 a0008c0013t0008 a0008c0013t0019 a0009c0034t0003 a0010c0017t0003 a0016c0019t0008	a0001c0001t0003g0015 a0001c0001t0003g0027 a0001c0001t0003g0029 others(53): Show a0001c0001t0003g0015 a0001c0001t0003g0027 a0001c0001t0003g0029 a0001c0001t0021g0025 a0001c0001t0024g0056 a0001c0003t0005g0133 a0001c0003t0005g0135 a0001c0003t0005g0136 a0001c0003t0005g0143 a0001c0003t0005g0158 a0001c0003t0035g0142 a0001c0011t0031g0075 a0002c0002t0003g0062 a0002c0002t0010g0173 a0002c0002t0010g0181 a0002c0002t0018g0183 a0002c0002t0023g0121 a0002c0002t0025g0164 a0002c0002t0034g0115 a0002c0009t0003g0064 a0002c0009t0003g0071 a0002c0031t0003g0066 a0003c0004t0003g0017 a0003c0004t0003g0035 a0003c0004t0003g0038 a0003c0004t0003g0165 a0003c0004t0022g0041 a0003c0006t0005g0130 a0003c0006t0005g0132 a0003c0006t0005g0137 a0003c0006t0005g0144 a0004c0005t0008g0007 a0004c0005t0008g0009 a0004c0005t0008g0012 a0004c0005t0008g0053 a0004c0005t0009g0080 a0004c0005t0009g0094 a0004c0005t0009g0097 a0004c0005t0009g0103 a0004c0005t0009g0107 a0004c0005t0013g0018 a0004c0005t0013g0163 a0004c0005t0032g0091 a0005c0007t0003g0072 a0005c0007t0003g0113 a0005c0007t0003g0119 a0005c0007t0026g0123 a0005c0016t0003g0161 a0006c0014t0008g0126 a0006c0014t0037g0171 a0006c0032t0008g0160 a0008c0013t0008g0073 a0008c0013t0019g0185 a0009c0034t0003g0070 a0010c0017t0003g0111 a0016c0019t0008g0020	56	186	0.3011	19	c.299 others(36): Show c.2991+806_2991+807insTCCAGGTGCCTGGCTGACG	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACA_chr17_37079992_37411836	37163196	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 NA18984.hp2 HG02109.hp2 NA18984.hp2	a0001 a0001	a0001c0004 a0001c0012 a0001c0004 a0001c0012	a0001c0004t0005 a0001c0012t0001 a0001c0004t0005 a0001c0012t0001	a0001c0004t0005g0040 a0001c0012t0001g0147 a0001c0004t0005g0040 a0001c0012t0001g0147	2	299	0.0067	19	c.508 others(38): Show c.5080-1165_5080-1147dupTTTTTTTTTTTTTTTTTTT	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	41/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37174020	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0120 a0001c0004t0005g0120	1	299	0.0033	19	c.507 others(38): Show c.5079+5239_5079+5240insATATATATATATATATATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	41/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37174020	A A	ATATATAT others(12): Show ATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG02015.hp2 HG01169.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0026 a0001c0001t0001 a0001c0001t0026	a0001c0001t0001g0210 a0001c0001t0026g0230 a0001c0001t0001g0210 a0001c0001t0026g0230	2	299	0.0067	19	c.507 others(38): Show c.5079+5239_5079+5240insAAAAAAAAATATATATATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	41/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37174020	A A	ATATATAT others(12): Show ATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA19056.hp2 NA18943.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0294 a0001c0001t0001g0225 a0001c0001t0001g0294	2	299	0.0067	19	c.507 others(38): Show c.5079+5239_5079+5240insAAAAAAAAAAATATATATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	41/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37174021	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02809.hp2 HG03225.hp1 others(1): Show HG02145.hp1 HG02809.hp2 HG03225.hp1 HG03654.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0006 a0001c0002 a0001c0004 a0001c0006	a0001c0002t0001 a0001c0004t0005 a0001c0006t0005 a0001c0002t0001 a0001c0004t0005 a0001c0006t0005	a0001c0002t0001g0152 a0001c0004t0005g0117 a0001c0004t0005g0277 others(1): Show a0001c0002t0001g0152 a0001c0004t0005g0117 a0001c0004t0005g0277 a0001c0006t0005g0119	4	299	0.0134	19	c.507 others(38): Show c.5079+5238_5079+5239insTATATATATATATATATAT	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	41/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37181900	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0041 a0001c0001t0003g0041	1	299	0.0033	19	c.477 others(36): Show c.4777-563_4777-545dupTTTTTTTTTTTTTTTTTTT	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	39/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37338973	G G	GAGGGAGG others(12): Show GAGGGAGGGAAAAGGGGAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00408.hp2 others(138): Show HG00099.hp2 HG00323.hp1 HG00408.hp2 HG00438.hp2 HG00544.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG01069.hp1 HG01070.hp1 HG01099.hp1 HG01109.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01192.hp2 HG01255.hp2 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01496.hp2 HG01515.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01952.hp2 HG01981.hp1 HG01993.hp1 HG02004.hp1 HG02015.hp2 HG02071.hp2 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02723.hp1 HG02735.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03704.hp1 HG04199.hp1 HG04228.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18943.hp2 NA18945.hp2 NA18946.hp2 NA18950.hp1 NA18954.hp1 NA18964.hp2 NA18966.hp1 NA18969.hp2 NA18970.hp1 NA18972.hp1 NA18973.hp2 NA18975.hp2 NA18977.hp2 NA18979.hp1 NA18980.hp2 NA18984.hp1 NA18991.hp1 NA18994.hp2 NA18999.hp1 NA19000.hp1 NA19003.hp1 NA19005.hp2 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19030.hp2 NA19043.hp2 NA19056.hp2 NA19057.hp1 NA19062.hp1 NA19064.hp1 NA19066.hp2 NA19068.hp1 NA19076.hp2 NA19078.hp1 NA19083.hp1 NA19085.hp1 NA19085.hp2 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0004 a0001c0005 others(4): Show a0001c0001 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0003c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0024 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0032 a0001c0001t0035 a0001c0004t0005 a0001c0004t0021 a0001c0004t0031 a0001c0004t0033 a0001c0005t0001 a0001c0006t0005 a0001c0007t0003 a0001c0009t0001 a0003c0008t0003	a0001c0001t0001g0059 a0001c0001t0001g0076 a0001c0001t0001g0083 others(138): Show a0001c0001t0001g0059 a0001c0001t0001g0076 a0001c0001t0001g0083 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0193 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 a0001c0001t0001g0259 a0001c0001t0001g0263 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0002g0007 a0001c0001t0002g0020 a0001c0001t0002g0022 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0003g0041 a0001c0001t0003g0045 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0081 a0001c0001t0003g0091 a0001c0001t0003g0098 a0001c0001t0003g0112 a0001c0001t0003g0116 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0145 a0001c0001t0003g0146 a0001c0001t0003g0181 a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0004g0085 a0001c0001t0004g0115 a0001c0001t0004g0159 a0001c0001t0004g0160 a0001c0001t0004g0161 a0001c0001t0004g0162 a0001c0001t0004g0165 a0001c0001t0004g0166 a0001c0001t0004g0167 a0001c0001t0004g0168 a0001c0001t0004g0169 a0001c0001t0004g0170 a0001c0001t0004g0173 a0001c0001t0004g0174 a0001c0001t0004g0175 a0001c0001t0004g0176 a0001c0001t0004g0188 a0001c0001t0006g0189 a0001c0001t0006g0207 a0001c0001t0007g0093 a0001c0001t0007g0140 a0001c0001t0007g0275 a0001c0001t0009g0024 a0001c0001t0009g0031 a0001c0001t0011g0094 a0001c0001t0011g0105 a0001c0001t0012g0048 a0001c0001t0012g0095 a0001c0001t0015g0226 a0001c0001t0015g0271 a0001c0001t0016g0204 a0001c0001t0016g0235 a0001c0001t0017g0001 a0001c0001t0018g0002 a0001c0001t0024g0214 a0001c0001t0026g0230 a0001c0001t0027g0291 a0001c0001t0028g0264 a0001c0001t0032g0296 a0001c0001t0035g0299 a0001c0004t0005g0040 a0001c0004t0005g0044 a0001c0004t0005g0087 a0001c0004t0005g0090 a0001c0004t0005g0117 a0001c0004t0005g0118 a0001c0004t0005g0120 a0001c0004t0005g0125 a0001c0004t0005g0137 a0001c0004t0005g0153 a0001c0004t0005g0158 a0001c0004t0005g0190 a0001c0004t0005g0192 a0001c0004t0005g0268 a0001c0004t0005g0276 a0001c0004t0005g0277 a0001c0004t0021g0023 a0001c0004t0031g0129 a0001c0004t0033g0298 a0001c0005t0001g0222 a0001c0006t0005g0119 a0001c0007t0003g0067 a0001c0009t0001g0261 a0003c0008t0003g0248	141	299	0.4716	19	c.85+ others(32): Show c.85+830_85+831insTTTCCCCTTTTCCCTCCCT	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	2/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37338973	G G	GAGGGAGG others(12): Show GAGGGAGGGGAAAGGGGAAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02486.hp2 HG02886.hp1 others(2): Show HG02258.hp1 HG02486.hp2 HG02886.hp1 HG02970.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0001 a0001c0001t0002 a0001c0001t0007	a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0053 others(2): Show a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0053 a0001c0001t0002g0025 a0001c0001t0007g0073	5	299	0.0167	19	c.85+ others(32): Show c.85+830_85+831insTTTCCCCTTTCCCCTCCCT	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	2/55			chr17	TogoVar
ACACB_chr12_109111587_109273226	109206428	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0006 a0006	a0006c0113 a0006c0113	a0006c0113t0004 a0006c0113t0004	a0006c0113t0004g0031 a0006c0113t0004g0031	1	308	0.0033	19	c.291 others(36): Show c.2914-266_2914-265insAAAAAAAAAAAAAAAAAAA	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	19/52		INFO_REALIGN_3_PRIME	chr12	TogoVar

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