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
AGPAT4_chr6_161124967_161279061	161219872	T T	TAGATAGG others(5): Show TAGATAGGCAGGC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01257.hp2 HG01258.hp2 others(4): Show HG00741.hp2 HG01257.hp2 HG01258.hp2 HG01358.hp1 HG01975.hp1 HG02080.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0009 a0001c0001t0012 a0001c0002t0004 others(1): Show a0001c0001t0009 a0001c0001t0012 a0001c0002t0004 a0001c0002t0075	a0001c0001t0009g0001 a0001c0001t0009g0168 a0001c0001t0009g0255 others(3): Show a0001c0001t0009g0001 a0001c0001t0009g0168 a0001c0001t0009g0255 a0001c0001t0012g0229 a0001c0002t0004g0146 a0001c0002t0075g0044	7	264	0.0265	12	c.178 others(31): Show c.178+12163_178+12164insGCCTGCCTATCT	AGPAT4	ENSG00000026652.15	transcript	ENST00000320285.9	protein_coding	2/8			chr6	TogoVar
AGPAT4_chr6_161124967_161279061	161219872	T T	TAGGCAGG others(5): Show TAGGCAGGCAGGC	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp1 HG03491.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0227 a0001c0001t0003g0228 a0001c0001t0003g0227 a0001c0001t0003g0228	2	264	0.0076	12	c.178 others(31): Show c.178+12152_178+12163dupGCCTGCCTGCCT	AGPAT4	ENSG00000026652.15	transcript	ENST00000320285.9	protein_coding	2/8			chr6	TogoVar
AGPAT4_chr6_161124967_161279061	161219916	C C	CAGGCAGG others(5): Show CAGGCAGGCGGCA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0058	a0001c0001t0058g0032 a0001c0001t0058g0032	1	264	0.0038	12	c.178 others(31): Show c.178+12119_178+12120insTGCCGCCTGCCT	AGPAT4	ENSG00000026652.15	transcript	ENST00000320285.9	protein_coding	2/8			chr6	TogoVar
AGPAT4_chr6_161124967_161279061	161219916	C C	CGGCAGGC others(5): Show CGGCAGGCAGGCA	intron_variant intron_variant	MODIFIER	HG01975.hp1 NA18977.hp2 NA19060.hp2 HG01975.hp1 NA18977.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0064 a0001c0001t0066 a0001c0002t0004 a0001c0001t0064 a0001c0001t0066 a0001c0002t0004	a0001c0001t0064g0122 a0001c0001t0066g0178 a0001c0002t0004g0146 a0001c0001t0064g0122 a0001c0001t0066g0178 a0001c0002t0004g0146	3	264	0.0114	12	c.178 others(31): Show c.178+12108_178+12119dupTGCCTGCCTGCC	AGPAT4	ENSG00000026652.15	transcript	ENST00000320285.9	protein_coding	2/8			chr6	TogoVar
AGPAT4_chr6_161124967_161279061	161219946	G G	GCAGACAG others(5): Show GCAGACAGACAGA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03195.hp2 HG03209.hp1 others(1): Show HG02572.hp1 HG03195.hp2 HG03209.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0018 a0001c0001t0025 others(1): Show a0001c0001t0007 a0001c0001t0018 a0001c0001t0025 a0001c0001t0054	a0001c0001t0007g0182 a0001c0001t0018g0135 a0001c0001t0025g0016 others(1): Show a0001c0001t0007g0182 a0001c0001t0018g0135 a0001c0001t0025g0016 a0001c0001t0054g0252	4	264	0.0152	12	c.178 others(31): Show c.178+12078_178+12089dupTCTGTCTGTCTG	AGPAT4	ENSG00000026652.15	transcript	ENST00000320285.9	protein_coding	2/8			chr6	TogoVar
AGPAT4_chr6_161124967_161279061	161219946	G G	GCAGGCAG others(5): Show GCAGGCAGACAGA	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0177 a0001c0001t0027g0177	1	264	0.0038	12	c.178 others(31): Show c.178+12089_178+12090insTCTGTCTGCCTG	AGPAT4	ENSG00000026652.15	transcript	ENST00000320285.9	protein_coding	2/8			chr6	TogoVar
AGPAT4_chr6_161124967_161279061	161219946	G G	GCAGGCAG others(5): Show GCAGGCAGGCAGA	intron_variant intron_variant	MODIFIER	HG03491.hp2 NA18946.hp1 HG03491.hp2 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0238 a0001c0001t0003g0223 a0001c0001t0002g0238 a0001c0001t0003g0223	2	264	0.0076	12	c.178 others(31): Show c.178+12089_178+12090insTCTGCCTGCCTG	AGPAT4	ENSG00000026652.15	transcript	ENST00000320285.9	protein_coding	2/8			chr6	TogoVar
AGPAT4_chr6_161124967_161279061	161228661	T T	TAAAAAAA others(5): Show TAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03225.hp1 HG03225.hp2 others(1): Show HG01891.hp1 HG03225.hp1 HG03225.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0026 a0001c0001t0047 others(1): Show a0001c0001t0021 a0001c0001t0026 a0001c0001t0047 a0001c0001t0051	a0001c0001t0021g0025 a0001c0001t0026g0220 a0001c0001t0047g0197 others(1): Show a0001c0001t0021g0025 a0001c0001t0026g0220 a0001c0001t0047g0197 a0001c0001t0051g0024	4	264	0.0152	12	c.178 others(29): Show c.178+3363_178+3374dupTTTTTTTTTTTT	AGPAT4	ENSG00000026652.15	transcript	ENST00000320285.9	protein_coding	2/8			chr6	TogoVar
AGPAT4_chr6_161124967_161279061	161272705	A A	AACACACA others(5): Show AACACACACACAC	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA18949.hp1 NA21309.hp2 HG00621.hp1 NA18949.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0005 a0001c0002t0072 a0001c0001t0002 a0001c0001t0005 a0001c0002t0072	a0001c0001t0002g0200 a0001c0001t0005g0257 a0001c0002t0072g0162 a0001c0001t0002g0200 a0001c0001t0005g0257 a0001c0002t0072g0162	3	264	0.0114	12	c.-90 others(29): Show c.-90+1221_-90+1232dupGTGTGTGTGTGT	AGPAT4	ENSG00000026652.15	transcript	ENST00000320285.9	protein_coding	1/8			chr6	TogoVar
AGPAT5_chr8_6703642_6766503	6707320	A A	AATATATA others(5): Show AATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG02683.hp1 HG03654.hp1 others(2): Show HG02647.hp2 HG02683.hp1 HG03654.hp1 HG06807.hp2 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0003 a0001c0006t0002 a0001c0001t0001 a0001c0001t0003 a0001c0006t0002	a0001c0001t0001g0145 a0001c0001t0001g0261 a0001c0001t0003g0112 others(2): Show a0001c0001t0001g0145 a0001c0001t0001g0261 a0001c0001t0003g0112 a0001c0001t0003g0116 a0001c0006t0002g0290	5	404	0.0124	12	c.-13 others(23): Show c.-1349_-1348insATATATATATAT	AGPAT5	ENSG00000155189.12	transcript	ENST00000285518.11	protein_coding		1321		chr8	TogoVar
AGPAT5_chr8_6703642_6766503	6762132	T T	TAAAAAAA others(5): Show TAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0085 a0001c0001t0003g0085	1	404	0.0025	12	c.47 others(23): Show c.4744_*4745insAAAAAAAAAAAA	AGPAT5	ENSG00000155189.12	transcript	ENST00000285518.11	protein_coding		630		chr8	TogoVar
AGPS_chr2_177387773_177548834	177414897	C C	CGTGTGTG others(5): Show CGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00735.hp2 HG01978.hp2 others(9): Show HG00408.hp2 HG00735.hp2 HG01978.hp2 HG02109.hp1 HG02258.hp2 HG02280.hp2 HG02615.hp2 HG02630.hp1 HG02723.hp1 HG02965.hp2 HG03041.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0012 a0001c0001t0013 others(4): Show a0001c0001t0001 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0002t0009 a0001c0002t0013 a0001c0002t0034	a0001c0001t0001g0117 a0001c0001t0001g0127 a0001c0001t0001g0252 others(9): Show a0001c0001t0001g0117 a0001c0001t0001g0127 a0001c0001t0001g0252 a0001c0001t0012g0014 a0001c0001t0012g0015 a0001c0001t0012g0016 a0001c0001t0013g0018 a0001c0001t0014g0020 a0001c0001t0014g0022 a0001c0002t0009g0204 a0001c0002t0013g0206 a0001c0002t0034g0211	12	258	0.0465	12	c.261 others(29): Show c.261-5359_261-5348dupGTGTGTGTGTGT	AGPS	ENSG00000018510.18	transcript	ENST00000264167.11	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr2	TogoVar
AGPS_chr2_177387773_177548834	177434997	G G	GGGTATAT others(5): Show GGGTATATATATA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00735.hp1 HG02723.hp2 others(5): Show HG00438.hp2 HG00735.hp1 HG02723.hp2 HG02735.hp2 HG02818.hp2 NA18522.hp2 NA18945.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0016 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0016 a0001c0001t0024 a0001c0001t0041	a0001c0001t0001g0112 a0001c0001t0001g0137 a0001c0001t0001g0141 others(5): Show a0001c0001t0001g0112 a0001c0001t0001g0137 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0005g0200 a0001c0001t0016g0213 a0001c0001t0024g0098 a0001c0001t0041g0099	8	258	0.0310	12	c.441 others(27): Show c.441+580_441+581insGGTATATATATA	AGPS	ENSG00000018510.18	transcript	ENST00000264167.11	protein_coding	3/19			chr2	TogoVar
AGPS_chr2_177387773_177548834	177434997	G G	GTATATAT others(5): Show GTATATATATATA	intron_variant intron_variant	MODIFIER	HG02074.hp2 NA20905.hp2 HG02074.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0048 a0001c0001t0002 a0001c0002t0048	a0001c0001t0002g0249 a0001c0002t0048g0008 a0001c0001t0002g0249 a0001c0002t0048g0008	2	258	0.0078	12	c.441 others(27): Show c.441+596_441+607dupATATATATATAT	AGPS	ENSG00000018510.18	transcript	ENST00000264167.11	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr2	TogoVar
AGPS_chr2_177387773_177548834	177436139	A A	ATTTTTTT others(5): Show ATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0016 a0001c0001t0012g0016	1	258	0.0039	12	c.442 others(27): Show c.442-617_442-606dupTTTTTTTTTTTT	AGPS	ENSG00000018510.18	transcript	ENST00000264167.11	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr2	TogoVar
AGPS_chr2_177387773_177548834	177438983	T T	TACGCACA others(5): Show TACGCACACACAC	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02165.hp1 NA18999.hp2 others(1): Show HG02132.hp1 HG02165.hp1 NA18999.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0245 a0001c0001t0011g0246 a0001c0001t0011g0247 others(1): Show a0001c0001t0011g0245 a0001c0001t0011g0246 a0001c0001t0011g0247 a0001c0001t0011g0248	4	258	0.0155	12	c.637 others(29): Show c.637+1931_637+1932insGCACACACACAC	AGPS	ENSG00000018510.18	transcript	ENST00000264167.11	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr2	TogoVar
AGR2_chr7_16786811_16809999	16791101	G G	GAGGGAGA others(5): Show GAGGGAGAGGGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp1 HG03669.hp2 HG03688.hp2 others(6): Show HG02683.hp1 HG03669.hp2 HG03688.hp2 HG03834.hp1 NA18955.hp2 NA18959.hp1 NA18975.hp1 NA19004.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0014 a0001c0001t0003 a0001c0001t0014	a0001c0001t0003g0024 a0001c0001t0003g0112 a0001c0001t0003g0133 others(4): Show a0001c0001t0003g0024 a0001c0001t0003g0112 a0001c0001t0003g0133 a0001c0001t0003g0136 a0001c0001t0003g0139 a0001c0001t0003g0169 a0001c0001t0014g0140	9	460	0.0196	12	c.18 others(23): Show c.1806_*1807insGTCCCTCTCCCT	AGR2	ENSG00000106541.12	transcript	ENST00000419304.7	protein_coding		709		chr7	TogoVar
AGR2_chr7_16786811_16809999	16804267	T T	TACACACA others(5): Show TACACACACACAC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03704.hp2 NA20300.hp1 HG03225.hp1 HG03704.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0198 a0001c0001t0003g0199 a0001c0001t0003g0200 a0001c0001t0001g0198 a0001c0001t0003g0199 a0001c0001t0003g0200	3	460	0.0065	12	c.-8+ others(25): Show c.-8+656_-8+667dupGTGTGTGTGTGT	AGR2	ENSG00000106541.12	transcript	ENST00000419304.7	protein_coding	1/7			chr7	TogoVar
AGR3_chr7_16854412_16886983	16885081	G G	GTGTGTGT others(5): Show GTGTGTGTGTGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01891.hp2 HG02630.hp1 others(3): Show HG01109.hp2 HG01891.hp2 HG02630.hp1 HG02965.hp2 HG02970.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 others(3): Show a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0180 a0001c0001t0001g0208 a0001c0001t0003g0181	6	458	0.0131	12	c.-31 others(23): Show c.-3166_-3165insTACACACACACA	AGR3	ENSG00000173467.9	transcript	ENST00000310398.7	protein_coding		3099		chr7	TogoVar
AGR3_chr7_16854412_16886983	16886695	T T	TTTTATTT others(5): Show TTTTATTTATTTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp2 NA18974.hp2 NA19030.hp2 HG03654.hp2 NA18974.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0209 a0001c0001t0001g0227 a0001c0001t0001g0019 a0001c0001t0001g0209 a0001c0001t0001g0227	3	458	0.0066	12	c.-47 others(23): Show c.-4780_-4779insTAAATAAATAAA	AGR3	ENSG00000173467.9	transcript	ENST00000310398.7	protein_coding		4713		chr7	TogoVar
AGR3_chr7_16854412_16886983	16886739	A A	ATTTATTT others(5): Show ATTTATTTATTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	458	0.0022	12	c.-48 others(23): Show c.-4824_-4823insAAAATAAATAAA	AGR3	ENSG00000173467.9	transcript	ENST00000310398.7	protein_coding		4757		chr7	TogoVar
AGRN_chr1_1015120_1061116	1059640	T T	TCGGGGCG others(5): Show TCGGGGCGTGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01123.hp1 HG01243.hp2 others(35): Show HG01109.hp1 HG01123.hp1 HG01243.hp2 HG01884.hp2 HG02109.hp2 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02809.hp2 HG02818.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03239.hp1 HG03453.hp2 HG03579.hp1 HG04184.hp1 HG06807.hp2 NA18906.hp1 NA19030.hp2 NA19043.hp2 NA20129.hp1	a0001 a0002 a0006 others(9): Show a0001 a0002 a0006 a0007 a0008 a0009 a0011 a0024 a0027 a0028 a0029 a0031	a0001c0002 a0001c0011 a0001c0012 others(19): Show a0001c0002 a0001c0011 a0001c0012 a0001c0013 a0001c0024 a0001c0028 a0001c0036 a0001c0052 a0001c0053 a0001c0055 a0002c0005 a0002c0062 a0006c0010 a0007c0008 a0008c0009 a0009c0027 a0011c0020 a0024c0050 a0027c0046 a0028c0045 a0029c0061 a0031c0060	a0001c0002t0004 a0001c0011t0006 a0001c0012t0006 others(20): Show a0001c0002t0004 a0001c0011t0006 a0001c0012t0006 a0001c0012t0017 a0001c0013t0010 a0001c0024t0006 a0001c0028t0006 a0001c0036t0006 a0001c0052t0006 a0001c0053t0006 a0001c0055t0012 a0002c0005t0004 a0002c0062t0011 a0006c0010t0007 a0007c0008t0005 a0008c0009t0004 a0009c0027t0011 a0011c0020t0009 a0024c0050t0018 a0027c0046t0004 a0028c0045t0004 a0029c0061t0004 a0031c0060t0007	a0001c0002t0004g0047 a0001c0011t0006g0010 a0001c0012t0006g0056 others(34): Show a0001c0002t0004g0047 a0001c0011t0006g0010 a0001c0012t0006g0056 a0001c0012t0006g0163 a0001c0012t0017g0145 a0001c0013t0010g0011 a0001c0013t0010g0020 a0001c0024t0006g0079 a0001c0024t0006g0143 a0001c0028t0006g0166 a0001c0028t0006g0168 a0001c0036t0006g0154 a0001c0052t0006g0021 a0001c0053t0006g0161 a0001c0055t0012g0162 a0002c0005t0004g0176 a0002c0005t0004g0185 a0002c0005t0004g0186 a0002c0005t0004g0187 a0002c0005t0004g0188 a0002c0062t0011g0174 a0006c0010t0007g0057 a0007c0008t0005g0177 a0007c0008t0005g0178 a0007c0008t0005g0190 a0007c0008t0005g0191 a0008c0009t0004g0197 a0008c0009t0004g0198 a0008c0009t0004g0199 a0009c0027t0011g0181 a0011c0020t0009g0159 a0011c0020t0009g0160 a0024c0050t0018g0022 a0027c0046t0004g0062 a0028c0045t0004g0063 a0029c0061t0004g0175 a0031c0060t0007g0194	38	210	0.1810	12	c.46 others(23): Show c.4659_*4660insCGGGGCGTGGCC	AGRN	ENSG00000188157.15	transcript	ENST00000379370.7	protein_coding		3525		chr1	TogoVar
AGTPBP1_chr9_85541539_85746954	85566529	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG03139.hp2 HG03225.hp1 HG01255.hp1 HG03139.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096	3	302	0.0099	12	c.350 others(31): Show c.3503+8774_3503+8785dupTTTTTTTTTTTT	AGTPBP1	ENSG00000135049.16	transcript	ENST00000357081.8	protein_coding	25/25			chr9	TogoVar
AGTPBP1_chr9_85541539_85746954	85572004	G G	GTTTTTTT others(5): Show GTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG04184.hp2 HG01943.hp1 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0108 a0001c0001t0001g0055 a0001c0001t0001g0108	2	302	0.0066	12	c.350 others(31): Show c.3503+3299_3503+3310dupAAAAAAAAAAAA	AGTPBP1	ENSG00000135049.16	transcript	ENST00000357081.8	protein_coding	25/25			chr9	TogoVar
AGTPBP1_chr9_85541539_85746954	85599110	A A	AACACACA others(5): Show AACACACACACAC	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02071.hp2 HG02083.hp1 others(17): Show HG02040.hp1 HG02071.hp2 HG02083.hp1 HG02135.hp2 HG02165.hp2 HG02486.hp2 HG03471.hp2 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG04199.hp1 NA18747.hp1 NA18941.hp2 NA18955.hp1 NA18957.hp1 NA18972.hp2 NA18977.hp1 NA19009.hp1 NA19074.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 others(17): Show a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0021 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0059 a0001c0001t0001g0073 a0001c0001t0001g0078 a0001c0001t0002g0211 a0001c0001t0002g0213 a0001c0001t0002g0218 a0001c0001t0002g0235	20	302	0.0662	12	c.233 others(31): Show c.2336-2673_2336-2662dupGTGTGTGTGTGT	AGTPBP1	ENSG00000135049.16	transcript	ENST00000357081.8	protein_coding	17/25			chr9	TogoVar
AGTPBP1_chr9_85541539_85746954	85630391	C C	CTTATTTA others(5): Show CTTATTTATTTAT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG03098.hp1 HG03139.hp2 HG01255.hp1 HG03098.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0002g0159 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0002g0159	3	302	0.0099	12	c.201 others(31): Show c.2015+2270_2015+2271insATAAATAAATAA	AGTPBP1	ENSG00000135049.16	transcript	ENST00000357081.8	protein_coding	14/25			chr9	TogoVar
AGTPBP1_chr9_85541539_85746954	85691536	G G	GGTGTGTG others(5): Show GGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0298 a0001c0001t0006g0298	1	302	0.0033	12	c.157 others(29): Show c.157+1141_157+1152dupACACACACACAC	AGTPBP1	ENSG00000135049.16	transcript	ENST00000357081.8	protein_coding	3/25			chr9	TogoVar
AGTPBP1_chr9_85541539_85746954	85712035	G G	GGGTGGAT others(5): Show GGGTGGATCACCT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01891.hp2 HG02257.hp2 others(5): Show HG00735.hp2 HG01891.hp2 HG02257.hp2 HG02630.hp2 HG02717.hp1 HG02723.hp1 HG03486.hp1 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0285 a0001c0002t0003g0286 a0001c0002t0003g0287 others(5): Show a0001c0002t0003g0285 a0001c0002t0003g0286 a0001c0002t0003g0287 a0001c0002t0003g0288 a0001c0002t0003g0289 a0001c0002t0003g0290 a0001c0002t0003g0291 a0001c0002t0003g0292	8	302	0.0265	12	c.32+ others(25): Show c.32+455_32+466dupAGGTGATCCACC	AGTPBP1	ENSG00000135049.16	transcript	ENST00000357081.8	protein_coding	2/25			chr9	TogoVar
AGTPBP1_chr9_85541539_85746954	85741926	C C	CGGCGGCG others(5): Show CGGCGGCGCTGGA	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01069.hp2 HG01261.hp1 HG01069.hp2 HG01261.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0014 a0001c0001 a0003c0014	a0001c0001t0006 a0003c0014t0006 a0001c0001t0006 a0003c0014t0006	a0001c0001t0006g0298 a0003c0014t0006g0299 a0001c0001t0006g0298 a0003c0014t0006g0299	2	302	0.0066	12	c.-18 others(21): Show c.-186_-185insTCCAGCGCCGCC	AGTPBP1	ENSG00000135049.16	transcript	ENST00000357081.8	protein_coding	1/26	29394		chr9	TogoVar
AGTR1_chr3_148692903_148748003	148732883	G G	GGCGCCCG others(5): Show GGCGCCCGCCACT	intron_variant intron_variant	MODIFIER	HG02129.hp1 NA18747.hp2 NA18993.hp1 others(2): Show HG02129.hp1 NA18747.hp2 NA18993.hp1 NA19004.hp2 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0174 a0001c0002t0001g0150 a0001c0002t0001g0172 others(2): Show a0001c0001t0002g0174 a0001c0002t0001g0150 a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0207	5	350	0.0143	12	c.-47 others(29): Show c.-47-8105_-47-8094dupGCGCCCGCCACT	AGTR1	ENSG00000144891.19	transcript	ENST00000349243.8	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
AGT_chr1_230697523_230719122	230701148	T T	TTGTGTGT others(5): Show TTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp2 NA18982.hp2 HG02165.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0002 a0001c0001t0001g0005	2	456	0.0044	12	c.19 others(23): Show c.1981_*1992dupCACACACACACA	AGT	ENSG00000135744.9	transcript	ENST00000366667.6	protein_coding		1374		chr1	TogoVar
AGXT2_chr5_34993102_35052949	35028558	T T	TGAGAGAG others(5): Show TGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02135.hp2 NA18945.hp1 NA19068.hp1 others(2): Show HG02135.hp2 NA18945.hp1 NA19068.hp1 NA20129.hp2 NA20300.hp2	a0002 a0009 a0023 a0002 a0009 a0023	a0002c0002 a0009c0014 a0023c0036 a0002c0002 a0009c0014 a0023c0036	a0002c0002t0001 a0009c0014t0002 a0023c0036t0001 a0002c0002t0001 a0009c0014t0002 a0023c0036t0001	a0002c0002t0001g0040 a0002c0002t0001g0048 a0002c0002t0001g0103 others(2): Show a0002c0002t0001g0040 a0002c0002t0001g0048 a0002c0002t0001g0103 a0009c0014t0002g0035 a0023c0036t0001g0030	5	384	0.0130	12	c.770 others(29): Show c.770-2060_770-2049dupTCTCTCTCTCTC	AGXT2	ENSG00000113492.14	transcript	ENST00000231420.11	protein_coding	7/13			chr5	TogoVar
AGXT_chr2_240863824_240885500	240880574	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19074.hp2 NA19088.hp1 NA19074.hp2 NA19088.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0010 a0001c0002t0002g0010	2	444	0.0045	12	c.17 others(23): Show c.1753_*1754insTTTTTTTTTTTT	AGXT	ENSG00000172482.5	transcript	ENST00000307503.4	protein_coding		75		chr2	TogoVar
AGXT_chr2_240863824_240885500	240883694	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG03579.hp2 HG02559.hp2 HG03579.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0011c0014 a0001c0001 a0011c0014	a0001c0001t0013 a0011c0014t0008 a0001c0001t0013 a0011c0014t0008	a0001c0001t0013g0033 a0011c0014t0008g0084 a0001c0001t0013g0033 a0011c0014t0008g0084	2	444	0.0045	12	c.48 others(23): Show c.4873_*4874insTTTTTTTTTTTT	AGXT	ENSG00000172482.5	transcript	ENST00000307503.4	protein_coding		3195		chr2	TogoVar
AHCTF1_chr1_246834098_246936948	246834474	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG01346.hp1 HG02165.hp1 others(18): Show HG00741.hp2 HG01346.hp1 HG02165.hp1 HG02486.hp2 HG02559.hp1 HG02630.hp1 HG02723.hp2 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02897.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03195.hp2 HG03669.hp1 HG06807.hp2 NA18522.hp1 NA18939.hp2 NA19043.hp2 NA20129.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0018	a0001c0004 a0001c0007 a0002c0008 others(8): Show a0001c0004 a0001c0007 a0002c0008 a0003c0003 a0004c0005 a0004c0021 a0005c0006 a0005c0027 a0006c0011 a0006c0039 a0018c0030	a0001c0004t0002 a0001c0004t0008 a0001c0007t0001 others(10): Show a0001c0004t0002 a0001c0004t0008 a0001c0007t0001 a0002c0008t0002 a0003c0003t0001 a0004c0005t0005 a0004c0005t0006 a0004c0021t0006 a0005c0006t0001 a0005c0027t0001 a0006c0011t0007 a0006c0039t0007 a0018c0030t0005	a0001c0004t0002g0059 a0001c0004t0002g0161 a0001c0004t0008g0294 others(18): Show a0001c0004t0002g0059 a0001c0004t0002g0161 a0001c0004t0008g0294 a0001c0004t0008g0325 a0001c0007t0001g0270 a0002c0008t0002g0127 a0003c0003t0001g0213 a0003c0003t0001g0235 a0004c0005t0005g0004 a0004c0005t0005g0005 a0004c0005t0005g0006 a0004c0005t0005g0007 a0004c0005t0006g0189 a0004c0021t0006g0276 a0005c0006t0001g0018 a0005c0006t0001g0019 a0005c0027t0001g0197 a0006c0011t0007g0020 a0006c0011t0007g0025 a0006c0039t0007g0024 a0018c0030t0005g0009	21	376	0.0559	12	c.63 others(23): Show c.6331_*6332insAAAAAAAAAAAA	AHCTF1	ENSG00000153207.16	transcript	ENST00000648844.2	protein_coding		4623		chr1	TogoVar
AHCTF1_chr1_246834098_246936948	246898621	A A	AACACACA others(5): Show AACACACACACAC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01891.hp1 NA20300.hp2 HG01109.hp1 HG01891.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0364 a0001c0001t0004g0367 a0001c0001t0004g0368 a0001c0001t0004g0364 a0001c0001t0004g0367 a0001c0001t0004g0368	3	376	0.0080	12	c.149 others(29): Show c.1495-297_1495-286dupGTGTGTGTGTGT	AHCTF1	ENSG00000153207.16	transcript	ENST00000648844.2	protein_coding	11/35			chr1	TogoVar
AHCTF1_chr1_246834098_246936948	246909079	A A	ATATCTAT others(5): Show ATATCTATCTATC	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02572.hp1 HG02647.hp2 others(6): Show HG02523.hp1 HG02572.hp1 HG02647.hp2 HG03490.hp1 NA18522.hp1 NA18949.hp2 NA19068.hp1 NA19083.hp2 NA19090.hp2	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0004c0005 a0005c0006 a0001c0001 a0004c0005 a0005c0006	a0001c0001t0001 a0004c0005t0005 a0005c0006t0001 a0001c0001t0001 a0004c0005t0005 a0005c0006t0001	a0001c0001t0001g0162 a0001c0001t0001g0260 a0001c0001t0001g0261 others(6): Show a0001c0001t0001g0162 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0305 a0001c0001t0001g0337 a0001c0001t0001g0345 a0004c0005t0005g0007 a0004c0005t0005g0008 a0005c0006t0001g0256	9	376	0.0239	12	c.557 others(29): Show c.557-1333_557-1322dupGATAGATAGATA	AHCTF1	ENSG00000153207.16	transcript	ENST00000648844.2	protein_coding	4/35			chr1	TogoVar
AHCTF1_chr1_246834098_246936948	246929410	A A	AAAAAATA others(5): Show AAAAAATAAAAAT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01433.hp1 HG02055.hp2 others(6): Show HG00733.hp2 HG01433.hp1 HG02055.hp2 HG02451.hp2 HG02622.hp2 HG02886.hp2 HG02922.hp1 HG03471.hp2 NA19030.hp2	a0001 a0003 a0001 a0003	a0001c0037 a0003c0003 a0001c0037 a0003c0003	a0001c0037t0001 a0003c0003t0001 a0001c0037t0001 a0003c0003t0001	a0001c0037t0001g0287 a0003c0003t0001g0280 a0003c0003t0001g0281 others(6): Show a0001c0037t0001g0287 a0003c0003t0001g0280 a0003c0003t0001g0281 a0003c0003t0001g0282 a0003c0003t0001g0283 a0003c0003t0001g0284 a0003c0003t0001g0285 a0003c0003t0001g0286 a0003c0003t0001g0288	9	376	0.0239	12	c.-8+ others(27): Show c.-8+2156_-8+2167dupATTTTTATTTTT	AHCTF1	ENSG00000153207.16	transcript	ENST00000648844.2	protein_coding	1/35			chr1	TogoVar
AHCTF1_chr1_246834098_246936948	246933121	T T	TTTTATTT others(5): Show TTTTATTTATTTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp2 HG01884.hp1 HG02559.hp1 others(8): Show HG01261.hp2 HG01884.hp1 HG02559.hp1 HG02723.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG03130.hp2 HG03195.hp2 HG03540.hp2	a0001 a0005 a0006 others(1): Show a0001 a0005 a0006 a0023	a0001c0001 a0001c0004 a0005c0006 others(3): Show a0001c0001 a0001c0004 a0005c0006 a0006c0011 a0006c0039 a0023c0038	a0001c0001t0001 a0001c0004t0002 a0005c0006t0001 others(3): Show a0001c0001t0001 a0001c0004t0002 a0005c0006t0001 a0006c0011t0007 a0006c0039t0007 a0023c0038t0001	a0001c0001t0001g0042 a0001c0004t0002g0021 a0001c0004t0002g0022 others(8): Show a0001c0001t0001g0042 a0001c0004t0002g0021 a0001c0004t0002g0022 a0001c0004t0002g0023 a0005c0006t0001g0017 a0005c0006t0001g0018 a0005c0006t0001g0019 a0006c0011t0007g0020 a0006c0011t0007g0025 a0006c0039t0007g0024 a0023c0038t0001g0026	11	376	0.0293	12	c.-15 others(23): Show c.-1552_-1551insTAAATAAATAAA	AHCTF1	ENSG00000153207.16	transcript	ENST00000648844.2	protein_coding		1174		chr1	TogoVar
AHCYL1_chr1_109979765_110028742	110026029	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0013 a0001c0001t0004g0013	1	350	0.0029	12	c.43 others(23): Show c.4349_*4350insTTTTTTTTTTTT	AHCYL1	ENSG00000168710.18	transcript	ENST00000369799.10	protein_coding		2288		chr1	TogoVar
AHCYL2_chr7_129220030_129435211	129267233	G G	GTGTGTGT others(5): Show GTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01257.hp1 HG01258.hp1 others(11): Show HG00408.hp2 HG01257.hp1 HG01258.hp1 HG01884.hp2 HG02055.hp2 HG03225.hp2 HG03490.hp1 HG03579.hp2 HG04199.hp1 NA18959.hp1 NA18977.hp1 NA18982.hp2 NA18993.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0026 a0001c0002t0001 a0001c0002t0003	a0001c0001t0001g0147 a0001c0001t0001g0179 a0001c0001t0002g0177 others(11): Show a0001c0001t0001g0147 a0001c0001t0001g0179 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0183 a0001c0001t0002g0185 a0001c0001t0003g0139 a0001c0001t0003g0156 a0001c0001t0008g0184 a0001c0001t0026g0152 a0001c0002t0001g0190 a0001c0002t0003g0231 a0001c0002t0003g0232 a0001c0002t0003g0252	14	292	0.0480	12	c.363 others(31): Show c.363+41805_363+41806insATGTGTGTGTGT	AHCYL2	ENSG00000158467.17	transcript	ENST00000325006.8	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
AHCYL2_chr7_129220030_129435211	129280178	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00323.hp2 others(123): Show HG00099.hp1 HG00140.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp2 HG00558.hp1 HG00597.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01167.hp1 HG01243.hp1 HG01255.hp1 HG01257.hp1 HG01258.hp1 HG01346.hp1 HG01361.hp1 HG01433.hp2 HG01515.hp1 HG01516.hp2 HG01884.hp2 HG01891.hp1 HG01952.hp1 HG01993.hp2 HG02004.hp1 HG02055.hp2 HG02074.hp2 HG02109.hp2 HG02135.hp2 HG02145.hp2 HG02165.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02293.hp1 HG02300.hp1 HG02451.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02735.hp2 HG02818.hp2 HG02897.hp2 HG02965.hp1 HG03041.hp1 HG03098.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03471.hp1 HG03490.hp1 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03688.hp2 HG03927.hp1 HG04184.hp1 HG04199.hp1 HG04204.hp1 HG04228.hp2 HG06807.hp1 NA18747.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18946.hp1 NA18947.hp1 NA18952.hp1 NA18955.hp2 NA18966.hp2 NA18968.hp2 NA18970.hp2 NA18979.hp2 NA18980.hp2 NA18985.hp1 NA18989.hp1 NA18993.hp2 NA18994.hp2 NA19009.hp2 NA19010.hp2 NA19012.hp2 NA19043.hp1 NA19054.hp2 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19077.hp1 NA19079.hp1 NA19091.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0026 a0001c0001t0027 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0002t0010 a0001c0002t0017 a0002c0003t0002	a0001c0001t0001g0074 a0001c0001t0001g0138 a0001c0001t0001g0147 others(123): Show a0001c0001t0001g0074 a0001c0001t0001g0138 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0186 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0008 a0001c0001t0002g0151 a0001c0001t0002g0153 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0173 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0183 a0001c0001t0002g0185 a0001c0001t0003g0091 a0001c0001t0003g0135 a0001c0001t0003g0146 a0001c0001t0003g0148 a0001c0001t0003g0159 a0001c0001t0003g0162 a0001c0001t0004g0007 a0001c0001t0004g0136 a0001c0001t0004g0137 a0001c0001t0004g0141 a0001c0001t0004g0158 a0001c0001t0008g0163 a0001c0001t0018g0283 a0001c0001t0018g0284 a0001c0001t0019g0155 a0001c0001t0020g0161 a0001c0001t0026g0152 a0001c0001t0027g0045 a0001c0002t0001g0190 a0001c0002t0001g0196 a0001c0002t0001g0203 a0001c0002t0001g0267 a0001c0002t0001g0269 a0001c0002t0001g0270 a0001c0002t0002g0001 a0001c0002t0002g0188 a0001c0002t0002g0191 a0001c0002t0002g0192 a0001c0002t0002g0198 a0001c0002t0002g0200 a0001c0002t0002g0201 a0001c0002t0002g0202 a0001c0002t0002g0204 a0001c0002t0002g0211 a0001c0002t0002g0212 a0001c0002t0002g0215 a0001c0002t0002g0216 a0001c0002t0002g0217 a0001c0002t0002g0218 a0001c0002t0002g0248 a0001c0002t0002g0249 a0001c0002t0002g0251 a0001c0002t0002g0254 a0001c0002t0002g0255 a0001c0002t0002g0260 a0001c0002t0002g0262 a0001c0002t0002g0268 a0001c0002t0002g0276 a0001c0002t0002g0277 a0001c0002t0003g0189 a0001c0002t0003g0193 a0001c0002t0003g0194 a0001c0002t0003g0195 a0001c0002t0003g0197 a0001c0002t0003g0205 a0001c0002t0003g0206 a0001c0002t0003g0207 a0001c0002t0003g0208 a0001c0002t0003g0209 a0001c0002t0003g0210 a0001c0002t0003g0213 a0001c0002t0003g0220 a0001c0002t0003g0221 a0001c0002t0003g0222 a0001c0002t0003g0223 a0001c0002t0003g0224 a0001c0002t0003g0225 a0001c0002t0003g0226 a0001c0002t0003g0227 a0001c0002t0003g0228 a0001c0002t0003g0231 a0001c0002t0003g0232 a0001c0002t0003g0233 a0001c0002t0003g0234 a0001c0002t0003g0235 a0001c0002t0003g0237 a0001c0002t0003g0238 a0001c0002t0003g0239 a0001c0002t0003g0240 a0001c0002t0003g0241 a0001c0002t0003g0242 a0001c0002t0003g0243 a0001c0002t0003g0244 a0001c0002t0003g0245 a0001c0002t0003g0246 a0001c0002t0003g0252 a0001c0002t0003g0257 a0001c0002t0003g0258 a0001c0002t0003g0259 a0001c0002t0003g0261 a0001c0002t0003g0266 a0001c0002t0003g0271 a0001c0002t0004g0236 a0001c0002t0006g0219 a0001c0002t0010g0273 a0001c0002t0010g0274 a0001c0002t0010g0275 a0001c0002t0017g0253 a0002c0003t0002g0199	126	292	0.4315	12	c.363 others(31): Show c.363+54750_363+54751insTTTTTTTTTTTT	AHCYL2	ENSG00000158467.17	transcript	ENST00000325006.8	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
AHCYL2_chr7_129220030_129435211	129299369	G G	GTTTTTTT others(5): Show GTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0208 a0001c0002t0003g0208	1	292	0.0034	12	c.363 others(31): Show c.363+73961_363+73972dupTTTTTTTTTTTT	AHCYL2	ENSG00000158467.17	transcript	ENST00000325006.8	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
AHCYL2_chr7_129220030_129435211	129365628	G G	GTATATAT others(5): Show GTATATATATATA	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18970.hp1 NA18968.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0029 a0001c0001t0002g0034 a0001c0001t0001g0029 a0001c0001t0002g0034	2	292	0.0069	12	c.364 others(31): Show c.364-14004_364-13993dupATATATATATAT	AHCYL2	ENSG00000158467.17	transcript	ENST00000325006.8	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
AHDC1_chr1_27529245_27609144	27538400	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02559.hp1 HG02572.hp1 others(4): Show HG01891.hp2 HG02559.hp1 HG02572.hp1 HG02809.hp1 HG03471.hp2 HG03516.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 a0001c0001t0001 a0001c0001t0003 a0001c0001t0011	a0001c0001t0001g0128 a0001c0001t0001g0155 a0001c0001t0003g0069 others(4): Show a0001c0001t0001g0128 a0001c0001t0001g0155 a0001c0001t0003g0069 a0001c0001t0003g0073 a0001c0001t0003g0089 a0001c0001t0003g0164 a0001c0001t0011g0090	7	180	0.0389	12	c.44 others(29): Show c.44-3496_*44-3485dupTTTTTTTTTTTT	AHDC1	ENSG00000126705.15	transcript	ENST00000673934.1	protein_coding	8/8			chr1	TogoVar
AHDC1_chr1_27529245_27609144	27595450	C C	CTGTGTGT others(5): Show CTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02258.hp2 HG02622.hp1 others(7): Show HG00639.hp2 HG02258.hp2 HG02622.hp1 HG02647.hp1 HG02970.hp2 HG03139.hp2 HG03471.hp2 HG03516.hp2 HG03579.hp1 NA19240.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0011c0022 a0001c0001 a0011c0022	a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 a0011c0022t0001	a0001c0001t0001g0087 a0001c0001t0001g0148 a0001c0001t0003g0007 others(6): Show a0001c0001t0001g0087 a0001c0001t0001g0148 a0001c0001t0003g0007 a0001c0001t0003g0072 a0001c0001t0003g0073 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0011g0090 a0011c0022t0001g0157	10	180	0.0556	12	c.-62 others(31): Show c.-629+7935_-629+7946dupCACACACACACA	AHDC1	ENSG00000126705.15	transcript	ENST00000673934.1	protein_coding	3/8			chr1	TogoVar
AHDC1_chr1_27529245_27609144	27608841	C C	CGTGTGTG others(5): Show CGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG01891.hp1 HG02622.hp1 others(2): Show HG01884.hp2 HG01891.hp1 HG02622.hp1 HG03130.hp2 HG03516.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 a0003c0004t0002 a0003c0004t0006	a0001c0001t0001g0091 a0001c0001t0003g0072 a0001c0001t0011g0090 others(2): Show a0001c0001t0001g0091 a0001c0001t0003g0072 a0001c0001t0011g0090 a0003c0004t0002g0074 a0003c0004t0006g0014	5	180	0.0278	12	c.-55 others(23): Show c.-5599_-5598insACACACACACAC	AHDC1	ENSG00000126705.15	transcript	ENST00000673934.1	protein_coding		4698		chr1	TogoVar
AHI1_chr6_135278532_135502740	135290913	A A	AACACACA others(5): Show AACACACACACAC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01891.hp1 HG01891.hp2 others(21): Show HG00639.hp1 HG01891.hp1 HG01891.hp2 HG02040.hp1 HG02055.hp1 HG02056.hp2 HG02109.hp1 HG02135.hp2 HG02148.hp2 HG02258.hp1 HG02273.hp2 HG02293.hp1 HG02647.hp2 HG02818.hp2 HG02886.hp2 HG03041.hp2 HG03130.hp1 HG03516.hp1 NA18612.hp2 NA18940.hp2 NA18951.hp2 NA19000.hp2 NA19043.hp2 NA19240.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0001c0003 a0001c0018 others(1): Show a0001c0001 a0001c0003 a0001c0018 a0008c0019	a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 a0001c0003t0002 a0001c0018t0007 a0008c0019t0003	a0001c0001t0002g0101 a0001c0001t0002g0109 a0001c0001t0002g0120 others(21): Show a0001c0001t0002g0101 a0001c0001t0002g0109 a0001c0001t0002g0120 a0001c0001t0002g0128 a0001c0001t0002g0201 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0209 a0001c0001t0003g0018 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0042 a0001c0001t0003g0044 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0182 a0001c0001t0012g0019 a0001c0003t0002g0219 a0001c0018t0007g0175 a0008c0019t0003g0211	24	220	0.1091	12	c.348 others(29): Show c.3486-400_3486-389dupGTGTGTGTGTGT	AHI1	ENSG00000135541.22	transcript	ENST00000265602.11	protein_coding	27/28			chr6	TogoVar
AHI1_chr6_135278532_135502740	135292109	T T	TACACACA others(5): Show TACACACACACAC	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0120 a0001c0001t0002g0120	1	220	0.0046	12	c.348 others(31): Show c.3486-1596_3486-1585dupGTGTGTGTGTGT	AHI1	ENSG00000135541.22	transcript	ENST00000265602.11	protein_coding	27/28			chr6	TogoVar
AHI1_chr6_135278532_135502740	135344926	T T	TCACACAC others(5): Show TCACACACACACA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02056.hp1 HG02109.hp1 others(12): Show HG02055.hp1 HG02056.hp1 HG02109.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02818.hp2 HG02895.hp1 HG02897.hp1 HG03041.hp2 HG03516.hp1 NA18612.hp1 NA18999.hp2 NA19043.hp2 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0014 others(1): Show a0001c0001 a0001c0002 a0001c0014 a0001c0021	a0001c0001t0002 a0001c0001t0003 a0001c0002t0004 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0002t0004 a0001c0014t0004 a0001c0021t0010	a0001c0001t0002g0041 a0001c0001t0003g0018 a0001c0001t0003g0032 others(12): Show a0001c0001t0002g0041 a0001c0001t0003g0018 a0001c0001t0003g0032 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0002t0004g0022 a0001c0002t0004g0028 a0001c0002t0004g0031 a0001c0014t0004g0024 a0001c0021t0010g0181	15	220	0.0682	12	c.316 others(33): Show c.3165+13194_3165+13205dupTGTGTGTGTGTG	AHI1	ENSG00000135541.22	transcript	ENST00000265602.11	protein_coding	24/28			chr6	TogoVar

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