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
A4GALT_chr22_42687121_42725870	42696121	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0245 a0001c0001t0018g0245	1	406	0.0025	22	c.-18 others(39): Show c.-187-491_-187-490insTTTTTTTTTTTTTTTTTTTTTT	A4GALT	ENSG00000128274.17	transcript	ENST00000642412.2	protein_coding	1/2			chr22	TogoVar
A4GALT_chr22_42687121_42725870	42703057	C C	CTCTGTGT others(15): Show CTCTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0390 a0001c0001t0018g0390	1	406	0.0025	22	c.-18 others(41): Show c.-187-7427_-187-7426insCACACACACACACACACACAGA	A4GALT	ENSG00000128274.17	transcript	ENST00000642412.2	protein_coding	1/2			chr22	TogoVar
A4GALT_chr22_42687121_42725870	42703106	C C	CTGTGTGT others(15): Show CTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02145.hp2 HG02486.hp2 others(4): Show HG01891.hp2 HG02145.hp2 HG02486.hp2 HG02572.hp2 HG02723.hp1 HG02886.hp1 HG03579.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0003 a0002c0008 others(1): Show a0001c0001 a0002c0003 a0002c0008 a0004c0005	a0001c0001t0004 a0002c0003t0001 a0002c0008t0001 others(1): Show a0001c0001t0004 a0002c0003t0001 a0002c0008t0001 a0004c0005t0010	a0001c0001t0004g0383 a0002c0003t0001g0085 a0002c0003t0001g0241 others(4): Show a0001c0001t0004g0383 a0002c0003t0001g0085 a0002c0003t0001g0241 a0002c0003t0001g0333 a0002c0003t0001g0339 a0002c0008t0001g0382 a0004c0005t0010g0275	7	406	0.0172	22	c.-18 others(41): Show c.-187-7497_-187-7476dupCACACACACACACACACACACA	A4GALT	ENSG00000128274.17	transcript	ENST00000642412.2	protein_coding	1/2			chr22	TogoVar
A4GALT_chr22_42687121_42725870	42709067	A A	ATATATAT others(15): Show ATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01074.hp1 HG00738.hp1 HG01074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0097 a0001c0002t0005g0098 a0001c0002t0005g0097 a0001c0002t0005g0098	2	406	0.0049	22	c.-18 others(43): Show c.-188+11729_-188+11730insAAAAAATATATATATATATATA	A4GALT	ENSG00000128274.17	transcript	ENST00000642412.2	protein_coding	1/2			chr22	TogoVar
AADACL4_chr1_12639085_12672076	12658166	T T	TTCTTTCT others(15): Show TTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01884.hp1 NA18906.hp2 HG01884.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0232 a0001c0002t0001g0228 a0001c0001t0001g0232 a0001c0002t0001g0228	2	310	0.0065	22	c.386 others(39): Show c.386-3624_386-3623insCTTTCTTTCTTTCTTTCTTTCT	AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
AADAT_chr4_170055222_170094956	170056457	T T	TATATATA others(15): Show TATATATATATATATATATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	378	0.0027	22	c.44 others(33): Show c.4470_*4471insGTATATATATATATATATATAT	AADAT	ENSG00000109576.14	transcript	ENST00000337664.9	protein_coding		3764		chr4	TogoVar
AAGAB_chr15_67195667_67259661	67222242	G G	GCACACAC others(15): Show GCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0215 a0002c0002t0003g0215	1	380	0.0026	22	c.535 others(39): Show c.535+9550_535+9571dupTGTGTGTGTGTGTGTGTGTGTG	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	5/9			chr15	TogoVar
AAGAB_chr15_67195667_67259661	67222282	A A	ACACACAC others(15): Show ACACACACACACACACACACACC	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02132.hp1 HG04204.hp2 others(2): Show HG02071.hp1 HG02132.hp1 HG04204.hp2 NA19058.hp1 NA20752.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0145 a0002c0002t0003g0162 a0002c0002t0003g0180 others(2): Show a0002c0002t0003g0145 a0002c0002t0003g0162 a0002c0002t0003g0180 a0002c0002t0003g0188 a0002c0002t0003g0224	5	380	0.0132	22	c.535 others(39): Show c.535+9531_535+9532insGGTGTGTGTGTGTGTGTGTGTG	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	5/9			chr15	TogoVar
AAK1_chr2_69452997_69648739	69493158	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02895.hp2 NA18612.hp2 others(5): Show HG02132.hp2 HG02895.hp2 NA18612.hp2 NA18939.hp1 NA18966.hp2 NA18969.hp2 NA18973.hp2 NA19004.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0003 a0001c0004 a0002c0002 others(2): Show a0001c0003 a0001c0004 a0002c0002 a0002c0016 a0007c0017	a0001c0003t0012 a0001c0003t0030 a0001c0003t0080 others(5): Show a0001c0003t0012 a0001c0003t0030 a0001c0003t0080 a0001c0003t0109 a0001c0004t0072 a0002c0002t0055 a0002c0016t0134 a0007c0017t0066	a0001c0003t0012g0096 a0001c0003t0030g0169 a0001c0003t0080g0094 others(5): Show a0001c0003t0012g0096 a0001c0003t0030g0169 a0001c0003t0080g0094 a0001c0003t0109g0166 a0001c0004t0072g0093 a0002c0002t0055g0021 a0002c0016t0134g0272 a0007c0017t0066g0076	8	298	0.0269	22	c.236 others(41): Show c.2365+2826_2365+2827insTTTTTTTTTTTTTTTTTTTTTT	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	17/21			chr2	TogoVar
AAK1_chr2_69452997_69648739	69500664	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp2 NA18960.hp2 HG03041.hp2 NA18960.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0002 a0001c0004 a0002c0002	a0001c0004t0017 a0002c0002t0003 a0001c0004t0017 a0002c0002t0003	a0001c0004t0017g0073 a0002c0002t0003g0238 a0001c0004t0017g0073 a0002c0002t0003g0238	2	298	0.0067	22	c.227 others(41): Show c.2270-4606_2270-4585dupATATATATATATATATATATAT	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	16/21			chr2	TogoVar
AAK1_chr2_69452997_69648739	69500689	A A	ATATATAT others(15): Show ATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0016 a0001c0006t0016	a0001c0006t0016g0061 a0001c0006t0016g0061	1	298	0.0034	22	c.227 others(41): Show c.2270-4610_2270-4609insCATATATATATATATATATATA	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	16/21			chr2	TogoVar
AAK1_chr2_69452997_69648739	69500698	T T	TATATATA others(15): Show TATATATATACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03486.hp2 HG03098.hp2 HG03486.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0123 a0002c0005t0150 a0002c0005t0123 a0002c0005t0150	a0002c0005t0123g0183 a0002c0005t0150g0281 a0002c0005t0123g0183 a0002c0005t0150g0281	2	298	0.0067	22	c.227 others(41): Show c.2270-4619_2270-4618insGTGTGTGTGTGTGTATATATAT	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	16/21			chr2	TogoVar
AAK1_chr2_69452997_69648739	69500698	T T	TATATATA others(15): Show TATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0131 a0002c0002t0131	a0002c0002t0131g0211 a0002c0002t0131g0211	1	298	0.0034	22	c.227 others(41): Show c.2270-4619_2270-4618insGTATATATATATATATATATAT	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	16/21			chr2	TogoVar
AAK1_chr2_69452997_69648739	69640049	A A	ACTCTCTC others(15): Show ACTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0003 a0003	a0003c0021 a0003c0021	a0003c0021t0151 a0003c0021t0151	a0003c0021t0151g0282 a0003c0021t0151g0282	1	298	0.0034	22	c.163 others(39): Show c.163+2828_163+2829insAGAGAGAGAGAGAGAGAGAGAG	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	2/21			chr2	TogoVar
AARS1_chr16_70247298_70294506	70269322	G G	GAAAAAAA others(15): Show GAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp2 NA18906.hp1 HG03098.hp2 NA18906.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0344 a0002c0004t0001g0355 a0002c0004t0001g0344 a0002c0004t0001g0355	2	362	0.0055	22	c.962 others(37): Show c.962+274_962+295dupTTTTTTTTTTTTTTTTTTTTTT	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	7/20			chr16	TogoVar
AARS1_chr16_70247298_70294506	70272889	G G	GACACACA others(15): Show GACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	362	0.0028	22	c.480 others(37): Show c.480-939_480-918dupGTGTGTGTGTGTGTGTGTGTGT	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	4/20			chr16	TogoVar
AARS1_chr16_70247298_70294506	70289738	A A	ACCCCCCC others(15): Show ACCCCCCCCCGCCCCCCCCGCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	362	0.0028	22	c.-36 others(31): Show c.-361_-340dupGGGCGGGGGGGGCGGGGGGGGG	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding		233		chr16	TogoVar
AARS1_chr16_70247298_70294506	70289747	C C	CCGCCCCC others(15): Show CCGCCCCCCCCGCCCCCCCCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG00609.hp2 HG03704.hp1 others(1): Show HG00609.hp1 HG00609.hp2 HG03704.hp1 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0106 others(1): Show a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0106 a0001c0001t0001g0132	4	362	0.0111	22	c.-34 others(31): Show c.-349_-348insCGGGGGGGGGGCGGGGGGGGCG	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding		242		chr16	TogoVar
AARS1_chr16_70247298_70294506	70289756	C C	CCGCCCCC others(15): Show CCGCCCCCCCCCCGCCCCCCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 NA20752.hp1 HG00438.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0122 a0001c0001t0001g0114 a0001c0001t0001g0122	2	362	0.0055	22	c.-35 others(31): Show c.-358_-357insCGGGGGGGGCGGGGGGGGGGCG	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding		251		chr16	TogoVar
AARS1_chr16_70247298_70294506	70289756	C C	CCGCCCCC others(15): Show CCGCCCCCCCCCGCCCCCCCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	362	0.0028	22	c.-35 others(31): Show c.-358_-357insCGGGGGGGGGCGGGGGGGGGCG	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding		251		chr16	TogoVar
AARS1_chr16_70247298_70294506	70289757	G G	GCCCCCCC others(15): Show GCCCCCCCCCCGCCCCCCCCCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG01109.hp1 HG01261.hp2 others(5): Show HG00597.hp1 HG01109.hp1 HG01261.hp2 HG01981.hp2 NA18970.hp1 NA18971.hp2 NA18978.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0001 a0001c0001t0001 a0001c0007t0001	a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0089 others(5): Show a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0089 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0107 a0001c0001t0001g0146 a0001c0007t0001g0070	8	362	0.0221	22	c.-35 others(31): Show c.-359_-358insGCGGGGGGGGGCGGGGGGGGGG	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding		252		chr16	TogoVar
AARS2_chr6_44293731_44318347	44302643	C C	CAAAACAC others(15): Show CAAAACACATGCCAGCTGCCACA	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0020 a0001c0017t0020	a0001c0017t0020g0054 a0001c0017t0020g0054	1	396	0.0025	22	c.236 others(39): Show c.2365-131_2365-130insTGTGGCAGCTGGCATGTGTTTT	AARS2	ENSG00000124608.5	transcript	ENST00000244571.5	protein_coding	17/21			chr6	TogoVar
AASDH_chr4_56333290_56392491	56381649	T T	TCTCACAC others(15): Show TCTCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01496.hp2 HG02027.hp1 others(7): Show HG01123.hp1 HG01496.hp2 HG02027.hp1 HG03098.hp2 NA18951.hp1 NA18960.hp1 NA18975.hp1 NA18999.hp1 NA19055.hp2 NA19091.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0019 a0002c0002t0001g0114 a0002c0002t0001g0115 others(6): Show a0002c0002t0001g0019 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0116 a0002c0002t0001g0117 a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0121	10	382	0.0262	22	c.351 others(37): Show c.351+827_351+828insTGTGTGTGTGTGTGTGTGTGAG	AASDH	ENSG00000157426.14	transcript	ENST00000205214.11	protein_coding	3/14			chr4	TogoVar
AASDH_chr4_56333290_56392491	56381649	T T	TCTCACAC others(15): Show TCTCACACACATACACACACACA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0220 a0003c0003t0001g0220	1	382	0.0026	22	c.351 others(37): Show c.351+827_351+828insTGTGTGTGTGTATGTGTGTGAG	AASDH	ENSG00000157426.14	transcript	ENST00000205214.11	protein_coding	3/14			chr4	TogoVar
AASS_chr7_122068549_122149249	122140485	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0307 a0001c0001t0003g0307	1	384	0.0026	22	c.-16 others(39): Show c.-16+3654_-16+3675dupTTTTTTTTTTTTTTTTTTTTTT	AASS	ENSG00000008311.16	transcript	ENST00000417368.7	protein_coding	1/23			chr7	TogoVar
ABAT_chr16_8669617_8789570	8710727	A A	AGAGAGAG others(15): Show AGAGAGAGAGAGAGAGAGGGAGG	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0251 a0001c0001t0012g0251	1	362	0.0028	22	c.-41 others(41): Show c.-41-24969_-41-24968insAGAGAGAGAGAGAGGGAGGGAG	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8710727	A A	AGAGAGAG others(15): Show AGAGAGAGAGAGGGAGAGGGAGG	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01074.hp1 HG01074.hp2 others(33): Show HG00621.hp2 HG01074.hp1 HG01074.hp2 HG01123.hp1 HG01978.hp1 HG01993.hp1 HG02165.hp1 HG02293.hp1 HG02451.hp1 HG02523.hp2 HG02602.hp2 HG02683.hp1 HG02738.hp2 HG03017.hp2 HG03831.hp1 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18950.hp2 NA18955.hp1 NA18957.hp2 NA18963.hp2 NA18967.hp1 NA18967.hp2 NA18973.hp2 NA18977.hp2 NA18994.hp1 NA18994.hp2 NA18999.hp1 NA19007.hp1 NA19009.hp1 NA19066.hp2 NA19080.hp1 NA19080.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 others(3): Show a0001c0001 a0001c0003 a0002c0002 a0002c0004 a0002c0005 a0002c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0035 a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0009 a0002c0002t0017 a0002c0004t0001 a0002c0004t0002 a0002c0004t0003 a0002c0005t0003 a0002c0005t0004 a0002c0006t0001 a0002c0006t0002	a0001c0001t0001g0090 a0001c0001t0001g0156 a0001c0001t0001g0173 others(33): Show a0001c0001t0001g0090 a0001c0001t0001g0156 a0001c0001t0001g0173 a0001c0001t0001g0191 a0001c0001t0002g0160 a0001c0001t0002g0248 a0001c0001t0002g0256 a0001c0001t0003g0091 a0001c0001t0003g0257 a0001c0001t0005g0051 a0001c0003t0001g0097 a0001c0003t0002g0179 a0001c0003t0002g0189 a0001c0003t0003g0083 a0001c0003t0003g0120 a0001c0003t0003g0147 a0001c0003t0003g0187 a0001c0003t0004g0123 a0001c0003t0035g0266 a0002c0002t0001g0021 a0002c0002t0001g0045 a0002c0002t0002g0195 a0002c0002t0004g0074 a0002c0002t0004g0079 a0002c0002t0004g0105 a0002c0002t0009g0086 a0002c0002t0017g0188 a0002c0004t0001g0265 a0002c0004t0002g0315 a0002c0004t0003g0032 a0002c0004t0003g0196 a0002c0005t0003g0075 a0002c0005t0004g0268 a0002c0006t0001g0183 a0002c0006t0002g0104 a0002c0006t0002g0161	36	362	0.0995	22	c.-41 others(41): Show c.-41-24969_-41-24968insAGAGAGAGGGAGAGGGAGGGAG	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8743423	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01496.hp2 HG01515.hp2 others(19): Show HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01934.hp2 HG02040.hp1 HG02074.hp1 HG02155.hp2 HG02280.hp2 HG02486.hp2 HG02818.hp1 HG02896.hp1 HG02922.hp1 HG02976.hp1 HG03041.hp1 HG03130.hp2 HG03540.hp2 NA18747.hp1 NA18980.hp2 NA19000.hp1 NA19030.hp2 NA19060.hp2 NA19090.hp2	a0002 a0002	a0002c0002 a0002c0004 a0002c0005 others(3): Show a0002c0002 a0002c0004 a0002c0005 a0002c0006 a0002c0007 a0002c0009	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(11): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0007 a0002c0002t0011 a0002c0004t0001 a0002c0004t0003 a0002c0005t0001 a0002c0005t0003 a0002c0005t0015 a0002c0006t0002 a0002c0007t0003 a0002c0007t0014 a0002c0009t0002	a0002c0002t0001g0033 a0002c0002t0001g0271 a0002c0002t0001g0345 others(19): Show a0002c0002t0001g0033 a0002c0002t0001g0271 a0002c0002t0001g0345 a0002c0002t0002g0006 a0002c0002t0002g0053 a0002c0002t0002g0069 a0002c0002t0003g0269 a0002c0002t0007g0009 a0002c0002t0011g0313 a0002c0004t0001g0019 a0002c0004t0001g0288 a0002c0004t0003g0068 a0002c0004t0003g0231 a0002c0005t0001g0062 a0002c0005t0003g0132 a0002c0005t0003g0180 a0002c0005t0015g0084 a0002c0006t0002g0210 a0002c0007t0003g0005 a0002c0007t0014g0048 a0002c0009t0002g0316 a0002c0009t0002g0340	22	362	0.0608	22	c.71- others(37): Show c.71-2577_71-2556dupTATATATATATATATATATATA	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8743444	T T	TATATATA others(15): Show TATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0154 a0001c0001t0002g0154	1	362	0.0028	22	c.71- others(37): Show c.71-2556_71-2555insTATATATATATATATATACACA	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8743444	T T	TATATATA others(15): Show TATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01106.hp1 HG01106.hp2 others(14): Show HG00735.hp2 HG01106.hp1 HG01106.hp2 HG02451.hp2 HG02602.hp1 HG03139.hp1 HG03139.hp2 HG03239.hp1 HG03486.hp1 NA18946.hp2 NA18950.hp1 NA18963.hp2 NA18977.hp2 NA19056.hp2 NA19060.hp1 NA20300.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0002c0004 others(3): Show a0001c0003 a0002c0002 a0002c0004 a0002c0008 a0002c0012 a0002c0016	a0001c0003t0003 a0002c0002t0001 a0002c0002t0009 others(9): Show a0001c0003t0003 a0002c0002t0001 a0002c0002t0009 a0002c0002t0017 a0002c0002t0019 a0002c0002t0032 a0002c0004t0001 a0002c0004t0003 a0002c0008t0002 a0002c0008t0003 a0002c0012t0002 a0002c0016t0003	a0001c0003t0003g0357 a0002c0002t0001g0270 a0002c0002t0009g0086 others(14): Show a0001c0003t0003g0357 a0002c0002t0001g0270 a0002c0002t0009g0086 a0002c0002t0009g0192 a0002c0002t0009g0193 a0002c0002t0017g0188 a0002c0002t0019g0002 a0002c0002t0032g0157 a0002c0004t0001g0141 a0002c0004t0001g0142 a0002c0004t0001g0223 a0002c0004t0001g0282 a0002c0004t0003g0172 a0002c0008t0002g0013 a0002c0008t0003g0015 a0002c0012t0002g0339 a0002c0016t0003g0235	17	362	0.0470	22	c.71- others(37): Show c.71-2556_71-2555insTATATATATATATATATATACA	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8773105	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0355 a0001c0003t0003g0355	1	362	0.0028	22	c.954 others(37): Show c.954+210_954+231dupCACACACACACACACACACACA	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABCA10_chr17_69143007_69233824	69162838	C C	CATATACA others(15): Show CATATACATATACATATACATAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00642.hp2 HG01069.hp2 others(26): Show HG00280.hp1 HG00642.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG02559.hp2 HG03017.hp1 HG03139.hp2 HG03195.hp1 HG03579.hp2 HG03669.hp2 HG03704.hp1 HG03831.hp1 HG04184.hp2 HG04199.hp2 NA18906.hp1 NA18953.hp1 NA18955.hp1 NA18975.hp1 NA18988.hp1 NA19054.hp1 NA19056.hp2 NA19062.hp1 NA19070.hp2 NA19091.hp1 NA20300.hp1 NA20752.hp1 NA20905.hp2 NA21309.hp1	a0002 a0003 a0004 others(4): Show a0002 a0003 a0004 a0005 a0009 a0020 a0021	a0002c0002 a0003c0003 a0003c0025 others(5): Show a0002c0002 a0003c0003 a0003c0025 a0004c0004 a0005c0013 a0009c0018 a0020c0031 a0021c0023	a0002c0002t0001 a0003c0003t0001 a0003c0003t0005 others(6): Show a0002c0002t0001 a0003c0003t0001 a0003c0003t0005 a0003c0025t0001 a0004c0004t0003 a0005c0013t0001 a0009c0018t0001 a0020c0031t0001 a0021c0023t0001	a0002c0002t0001g0061 a0002c0002t0001g0064 a0002c0002t0001g0082 others(26): Show a0002c0002t0001g0061 a0002c0002t0001g0064 a0002c0002t0001g0082 a0002c0002t0001g0085 a0002c0002t0001g0097 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0202 a0002c0002t0001g0229 a0002c0002t0001g0230 a0002c0002t0001g0231 a0003c0003t0001g0087 a0003c0003t0001g0091 a0003c0003t0001g0128 a0003c0003t0001g0131 a0003c0003t0001g0149 a0003c0003t0001g0201 a0003c0003t0001g0206 a0003c0003t0005g0318 a0003c0003t0005g0324 a0003c0025t0001g0042 a0004c0004t0003g0193 a0004c0004t0003g0208 a0004c0004t0003g0209 a0004c0004t0003g0256 a0005c0013t0001g0049 a0009c0018t0001g0102 a0020c0031t0001g0069 a0021c0023t0001g0211	29	348	0.0833	22	c.336 others(41): Show c.3363+1235_3363+1236insATATGTATATGTATATGTATAT	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	27/38			chr17	TogoVar
ABCA10_chr17_69143007_69233824	69162840	T T	TATACATA others(15): Show TATACATATACATATACATATAC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00733.hp1 HG01070.hp2 others(11): Show HG00323.hp2 HG00733.hp1 HG01070.hp2 HG01099.hp1 HG01106.hp1 HG01192.hp2 HG02293.hp2 HG02451.hp1 HG03516.hp1 HG03516.hp2 NA18973.hp2 NA19002.hp1 NA19004.hp2 homoSapiens_chm13v2.hp1	a0002 a0010 a0013 a0002 a0010 a0013	a0002c0002 a0010c0010 a0013c0020 others(1): Show a0002c0002 a0010c0010 a0013c0020 a0013c0021	a0002c0002t0001 a0002c0002t0005 a0010c0010t0006 others(2): Show a0002c0002t0001 a0002c0002t0005 a0010c0010t0006 a0013c0020t0006 a0013c0021t0006	a0002c0002t0001g0008 a0002c0002t0001g0046 a0002c0002t0001g0075 others(11): Show a0002c0002t0001g0008 a0002c0002t0001g0046 a0002c0002t0001g0075 a0002c0002t0001g0143 a0002c0002t0001g0145 a0002c0002t0001g0250 a0002c0002t0001g0251 a0002c0002t0001g0254 a0002c0002t0005g0312 a0002c0002t0005g0314 a0002c0002t0005g0315 a0010c0010t0006g0135 a0013c0020t0006g0132 a0013c0021t0006g0305	14	348	0.0402	22	c.336 others(41): Show c.3363+1233_3363+1234insGTATATGTATATGTATATGTAT	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	27/38			chr17	TogoVar
ABCA10_chr17_69143007_69233824	69210170	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0004 a0006c0007t0004	a0006c0007t0004g0191 a0006c0007t0004g0191	1	348	0.0029	22	c.100 others(41): Show c.1006+4512_1006+4533dupAAAAAAAAAAAAAAAAAAAAAA	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	9/38			chr17	TogoVar
ABCA10_chr17_69143007_69233824	69210847	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0247 a0004c0004t0003g0247	1	348	0.0029	22	c.100 others(41): Show c.1006+3856_1006+3857insATATATATATATATATATATAT	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	9/38			chr17	TogoVar
ABCA10_chr17_69143007_69233824	69227114	G G	GATATATA others(15): Show GATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19054.hp2 NA19081.hp2 NA19010.hp2 NA19054.hp2 NA19081.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0002g0035 a0002c0002t0001g0036 a0002c0002t0001g0037 a0001c0001t0002g0035 a0002c0002t0001g0036 a0002c0002t0001g0037	3	348	0.0086	22	c.-17 others(37): Show c.-172+30_-172+31insATATATATATATATATATATAT	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	2/38			chr17	TogoVar
ABCA12_chr2_214926542_215143626	214989187	C C	CATACATA others(15): Show CATACATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0011 a0011	a0011c0053 a0011c0053	a0011c0053t0002 a0011c0053t0002	a0011c0053t0002g0129 a0011c0053t0002g0129	1	198	0.0051	22	c.382 others(39): Show c.3829+141_3829+142insATATATATATATATATATGTAT	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	26/52			chr2	TogoVar
ABCA12_chr2_214926542_215143626	214989187	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00741.hp1 HG00741.hp2 others(22): Show HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01123.hp1 HG01258.hp1 HG02055.hp1 HG02257.hp1 HG02615.hp2 HG02647.hp1 HG02717.hp2 HG02809.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp2 HG03098.hp2 HG03195.hp2 HG03486.hp1 HG03490.hp2 HG03492.hp1 NA18981.hp2 NA19002.hp1 NA19009.hp1 NA19009.hp2 NA19240.hp2 NA20905.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0008 a0020	a0001c0002 a0001c0003 a0001c0005 others(12): Show a0001c0002 a0001c0003 a0001c0005 a0001c0011 a0001c0023 a0001c0025 a0002c0007 a0002c0017 a0002c0056 a0002c0058 a0003c0014 a0003c0067 a0005c0064 a0008c0028 a0020c0036	a0001c0002t0001 a0001c0002t0022 a0001c0003t0001 others(17): Show a0001c0002t0001 a0001c0002t0022 a0001c0003t0001 a0001c0003t0002 a0001c0003t0006 a0001c0005t0001 a0001c0005t0005 a0001c0011t0001 a0001c0011t0005 a0001c0023t0003 a0001c0025t0015 a0002c0007t0003 a0002c0017t0016 a0002c0056t0004 a0002c0058t0002 a0003c0014t0006 a0003c0067t0025 a0005c0064t0004 a0008c0028t0003 a0020c0036t0001	a0001c0002t0001g0043 a0001c0002t0001g0061 a0001c0002t0001g0163 others(22): Show a0001c0002t0001g0043 a0001c0002t0001g0061 a0001c0002t0001g0163 a0001c0002t0022g0148 a0001c0003t0001g0134 a0001c0003t0001g0159 a0001c0003t0002g0037 a0001c0003t0006g0048 a0001c0005t0001g0145 a0001c0005t0005g0075 a0001c0011t0001g0087 a0001c0011t0005g0088 a0001c0011t0005g0089 a0001c0023t0003g0024 a0001c0025t0015g0182 a0002c0007t0003g0017 a0002c0017t0016g0179 a0002c0017t0016g0180 a0002c0056t0004g0020 a0002c0058t0002g0072 a0003c0014t0006g0107 a0003c0067t0025g0183 a0005c0064t0004g0070 a0008c0028t0003g0083 a0020c0036t0001g0084	25	198	0.1263	22	c.382 others(39): Show c.3829+120_3829+141dupATATATATATATATATATATAT	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	26/52			chr2	TogoVar
ABCA12_chr2_214926542_215143626	215134620	G G	GAGAGAGA others(15): Show GAGAGAGAGAGAGAGAGACAAAC	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02818.hp2 HG02886.hp1 others(10): Show HG02132.hp1 HG02818.hp2 HG02886.hp1 HG03041.hp1 HG03225.hp2 HG03579.hp1 NA18522.hp1 NA18962.hp2 NA18971.hp1 NA18981.hp1 NA19007.hp2 NA19070.hp1 NA19090.hp2	a0001 a0002 a0014 a0001 a0002 a0014	a0001c0004 a0001c0009 a0001c0015 others(6): Show a0001c0004 a0001c0009 a0001c0015 a0001c0021 a0001c0040 a0002c0007 a0002c0008 a0002c0017 a0014c0038	a0001c0004t0010 a0001c0009t0008 a0001c0009t0010 others(7): Show a0001c0004t0010 a0001c0009t0008 a0001c0009t0010 a0001c0015t0007 a0001c0021t0010 a0001c0040t0008 a0002c0007t0017 a0002c0008t0007 a0002c0017t0009 a0014c0038t0008	a0001c0004t0010g0198 a0001c0009t0008g0188 a0001c0009t0008g0189 others(10): Show a0001c0004t0010g0198 a0001c0009t0008g0188 a0001c0009t0008g0189 a0001c0009t0010g0187 a0001c0015t0007g0009 a0001c0021t0010g0194 a0001c0040t0008g0186 a0002c0007t0017g0012 a0002c0008t0007g0008 a0002c0008t0007g0010 a0002c0008t0007g0011 a0002c0017t0009g0007 a0014c0038t0008g0195	13	198	0.0657	22	c.69+ others(37): Show c.69+3519_69+3520insGTTTGTCTCTCTCTCTCTCTCT	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	1/52			chr2	TogoVar
ABCA13_chr7_48166458_48652497	48232139	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0029 a0029	a0029c0014 a0029c0014	a0029c0014t0005 a0029c0014t0005	a0029c0014t0005g0119 a0029c0014t0005g0119	1	178	0.0056	22	c.764 others(39): Show c.764-1875_764-1854dupTTTTTTTTTTTTTTTTTTTTTT	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	7/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48401744	A A	AACACACA others(15): Show AACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02895.hp1 HG02895.hp2 others(4): Show HG02572.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG03579.hp1 NA18971.hp1 NA18998.hp2	a0008 a0009 a0024 others(3): Show a0008 a0009 a0024 a0061 a0069 a0086	a0008c0013 a0009c0012 a0024c0027 others(3): Show a0008c0013 a0009c0012 a0024c0027 a0061c0074 a0069c0066 a0086c0059	a0008c0013t0001 a0009c0012t0002 a0024c0027t0001 others(4): Show a0008c0013t0001 a0009c0012t0002 a0024c0027t0001 a0024c0027t0006 a0061c0074t0001 a0069c0066t0001 a0086c0059t0003	a0008c0013t0001g0111 a0009c0012t0002g0052 a0024c0027t0001g0161 others(4): Show a0008c0013t0001g0111 a0009c0012t0002g0052 a0024c0027t0001g0161 a0024c0027t0006g0162 a0061c0074t0001g0022 a0069c0066t0001g0143 a0086c0059t0003g0172	7	178	0.0393	22	c.118 others(43): Show c.11874-1928_11874-1907dupACACACACACACACACACACAC	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	38/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48637381	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0051 a0051	a0051c0053 a0051c0053	a0051c0053t0004 a0051c0053t0004	a0051c0053t0004g0122 a0051c0053t0004g0122	1	178	0.0056	22	c.148 others(43): Show c.14838-5903_14838-5882dupAAAAAAAAAAAAAAAAAAAAAA	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	59/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA1_chr9_104776006_104933155	104862689	C C	CCCCACCC others(15): Show CCCCACCCCCACCCCCACCCCCA	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	318	0.0031	22	c.422 others(37): Show c.422-890_422-889insTGGGGGTGGGGGTGGGGGTGGG	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	5/49			chr9	TogoVar
ABCA1_chr9_104776006_104933155	104882028	T T	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01978.hp1 NA18990.hp2 HG00408.hp2 HG01978.hp1 NA18990.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0003 a0001c0001 a0007c0003	a0001c0001t0001 a0007c0003t0002 a0007c0003t0035 a0001c0001t0001 a0007c0003t0002 a0007c0003t0035	a0001c0001t0001g0121 a0007c0003t0002g0038 a0007c0003t0035g0061 a0001c0001t0001g0121 a0007c0003t0002g0038 a0007c0003t0035g0061	3	318	0.0094	22	c.421 others(38): Show c.421+989_421+1010dupTTTTTTTTTTTTTTTTTTTTTT	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	5/49			chr9	TogoVar
ABCA2_chr9_137002234_137033237	137010888	C C	CCCCCACC others(15): Show CCCCCACCCCCGCCCCTACCCTG	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG02145.hp2 HG01256.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	2	320	0.0063	22	c.605 others(37): Show c.6056+63_6056+84dupCAGGGTAGGGGCGGGGGTGGGG	ABCA2	ENSG00000107331.18	transcript	ENST00000341511.11	protein_coding	39/48			chr9	TogoVar
ABCA5_chr17_69239311_69332133	69263697	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG03453.hp2 HG01258.hp1 HG03453.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0005 a0001c0004t0003 a0001c0004t0005	a0001c0004t0003g0336 a0001c0004t0005g0325 a0001c0004t0003g0336 a0001c0004t0005g0325	2	350	0.0057	22	c.331 others(41): Show c.3315+1037_3315+1038insAAAAAAAAAAAAAAAAAAAAAA	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	24/38			chr17	TogoVar
ABCA5_chr17_69239311_69332133	69298314	G G	GGAAGGAA others(15): Show GGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp2 HG01123.hp1 others(39): Show HG00323.hp1 HG00408.hp2 HG01123.hp1 HG01175.hp2 HG01358.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp2 HG02074.hp2 HG02132.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG03492.hp2 HG03654.hp1 NA18944.hp2 NA18952.hp1 NA18953.hp2 NA18967.hp1 NA18972.hp2 NA18977.hp1 NA18980.hp1 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA19000.hp1 NA19012.hp1 NA19058.hp1 NA19062.hp1 NA19064.hp2 NA19072.hp1 NA19074.hp1 NA19076.hp1 NA19078.hp2 NA19084.hp2 NA20300.hp2 NA21309.hp1	a0002 a0007 a0009 others(2): Show a0002 a0007 a0009 a0013 a0014	a0002c0001 a0007c0011 a0009c0025 others(2): Show a0002c0001 a0007c0011 a0009c0025 a0013c0019 a0014c0021	a0002c0001t0002 a0002c0001t0031 a0002c0001t0032 others(4): Show a0002c0001t0002 a0002c0001t0031 a0002c0001t0032 a0007c0011t0002 a0009c0025t0002 a0013c0019t0002 a0014c0021t0002	a0002c0001t0002g0211 a0002c0001t0002g0213 a0002c0001t0002g0216 others(39): Show a0002c0001t0002g0211 a0002c0001t0002g0213 a0002c0001t0002g0216 a0002c0001t0002g0218 a0002c0001t0002g0226 a0002c0001t0002g0227 a0002c0001t0002g0228 a0002c0001t0002g0229 a0002c0001t0002g0230 a0002c0001t0002g0231 a0002c0001t0002g0232 a0002c0001t0002g0237 a0002c0001t0002g0241 a0002c0001t0002g0245 a0002c0001t0002g0246 a0002c0001t0002g0251 a0002c0001t0002g0254 a0002c0001t0002g0259 a0002c0001t0002g0261 a0002c0001t0002g0262 a0002c0001t0002g0267 a0002c0001t0002g0268 a0002c0001t0002g0269 a0002c0001t0002g0274 a0002c0001t0002g0276 a0002c0001t0002g0280 a0002c0001t0002g0293 a0002c0001t0002g0294 a0002c0001t0002g0296 a0002c0001t0002g0303 a0002c0001t0002g0305 a0002c0001t0002g0307 a0002c0001t0002g0310 a0002c0001t0002g0314 a0002c0001t0002g0319 a0002c0001t0031g0313 a0002c0001t0032g0347 a0007c0011t0002g0286 a0007c0011t0002g0288 a0009c0025t0002g0295 a0013c0019t0002g0252 a0014c0021t0002g0162	42	350	0.1200	22	c.126 others(39): Show c.1268-956_1268-955insTCCTTCCTTCCTTCCTTCCTTC	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	9/38			chr17	TogoVar
ABCA5_chr17_69239311_69332133	69303807	T T	TATACACA others(15): Show TATACACATATATATATATACAC	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0065 a0001c0002t0001g0065	1	350	0.0029	22	c.930 others(37): Show c.930+861_930+862insGTGTATATATATATATGTGTAT	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	7/38			chr17	TogoVar
ABCA6_chr17_69073702_69146895	69086486	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02970.hp1 NA18953.hp1 NA18989.hp1 others(1): Show HG02970.hp1 NA18953.hp1 NA18989.hp1 NA19082.hp1	a0002 a0006 a0002 a0006	a0002c0002 a0002c0019 a0006c0013 a0002c0002 a0002c0019 a0006c0013	a0002c0002t0002 a0002c0019t0002 a0006c0013t0001 a0002c0002t0002 a0002c0019t0002 a0006c0013t0001	a0002c0002t0002g0203 a0002c0002t0002g0215 a0002c0019t0002g0188 others(1): Show a0002c0002t0002g0203 a0002c0002t0002g0215 a0002c0019t0002g0188 a0006c0013t0001g0165	4	326	0.0123	22	c.393 others(39): Show c.3937+110_3937+131dupATATATATATATATATATATAT	ABCA6	ENSG00000154262.13	transcript	ENST00000284425.7	protein_coding	30/38			chr17	TogoVar
ABCA8_chr17_68862289_68960392	68887911	T T	TATATATA others(15): Show TATATATATATATATATATATCC	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18960.hp2 NA18975.hp2 others(1): Show NA18950.hp1 NA18960.hp2 NA18975.hp2 NA19091.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0053 a0001c0001 a0002c0053	a0001c0001t0001 a0002c0053t0001 a0001c0001t0001 a0002c0053t0001	a0001c0001t0001g0008 a0001c0001t0001g0219 a0001c0001t0001g0270 others(1): Show a0001c0001t0001g0008 a0001c0001t0001g0219 a0001c0001t0001g0270 a0002c0053t0001g0049	4	274	0.0146	22	c.314 others(39): Show c.3145-406_3145-405insGGATATATATATATATATATAT	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	24/39			chr17	TogoVar

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