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
AGBL1_chr15_86074871_86921156	86286735	G G	GTGTGTAT others(19): Show GTGTGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp1 NA19030.hp2 HG01884.hp1 NA19030.hp2	a0001 a0001	a0001c0010 a0001c0055 a0001c0010 a0001c0055	a0001c0010t0067 a0001c0055t0009 a0001c0010t0067 a0001c0055t0009	a0001c0010t0067g0069 a0001c0055t0009g0064 a0001c0010t0067g0069 a0001c0055t0009g0064	2	132	0.0152	26	c.222 others(45): Show c.2220+6953_2220+6954insGTGTATATATATATATATATATATAT	AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
AGBL1_chr15_86074871_86921156	86298246	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02647.hp2 HG02559.hp2 HG02647.hp2	a0001 a0001	a0001c0002 a0001c0052 a0001c0002 a0001c0052	a0001c0002t0011 a0001c0052t0026 a0001c0002t0011 a0001c0052t0026	a0001c0002t0011g0005 a0001c0052t0026g0126 a0001c0002t0011g0005 a0001c0052t0026g0126	2	132	0.0152	26	c.237 others(45): Show c.2374+2847_2374+2872dupATATATATATATATATATATATATAT	AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	17/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
AGBL1_chr15_86074871_86921156	86735653	G G	GCTATATA others(19): Show GCTATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	132	0.0076	26	c.315 others(47): Show c.3158+61217_3158+61218insCTATATATATATATATATATATAT AT	AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	22/22			chr15	TogoVar
AGBL1_chr15_86074871_86921156	86895052	T T	TCCCTTTC others(19): Show TCCCTTTCTTTTATCTTCCCTCCTTCC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02257.hp1 HG02280.hp1 HG02055.hp1 HG02257.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0053 a0001c0001 a0001c0003 a0001c0053	a0001c0001t0008 a0001c0003t0008 a0001c0053t0008 a0001c0001t0008 a0001c0003t0008 a0001c0053t0008	a0001c0001t0008g0102 a0001c0003t0008g0125 a0001c0053t0008g0012 a0001c0001t0008g0102 a0001c0003t0008g0125 a0001c0053t0008g0012	3	132	0.0227	26	c.315 others(47): Show c.3159-12034_3159-12033insCCTTTCTTTTATCTTCCCTCCTTC CC	AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	22/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
AGBL2_chr11_47654591_47720369	47678335	A A	ATTTTATT others(19): Show ATTTTATTATTATTATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0054 a0002c0002t0002g0054	1	356	0.0028	26	c.201 others(43): Show c.2017-935_2017-934insAAAAAAAAAAAATAATAATAATAAAA	AGBL2	ENSG00000165923.17	transcript	ENST00000525123.6	protein_coding	13/18			chr11	TogoVar
AGBL2_chr11_47654591_47720369	47678335	A A	ATTTTATT others(19): Show ATTTTATTATTATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG04115.hp1 HG02738.hp2 HG04115.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0014 a0002c0002t0002g0036 a0002c0002t0002g0014 a0002c0002t0002g0036	2	356	0.0056	26	c.201 others(43): Show c.2017-935_2017-934insAAAAAAAAAAAAAAATAATAATAAAA	AGBL2	ENSG00000165923.17	transcript	ENST00000525123.6	protein_coding	13/18			chr11	TogoVar
AGBL2_chr11_47654591_47720369	47678335	A A	ATTTTATT others(19): Show ATTTTATTATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0096 a0003c0003t0002g0096	1	356	0.0028	26	c.201 others(43): Show c.2017-935_2017-934insAAAAAAAAAAAAAAAAAATAATAAAA	AGBL2	ENSG00000165923.17	transcript	ENST00000525123.6	protein_coding	13/18			chr11	TogoVar
AGBL2_chr11_47654591_47720369	47678343	A A	ATTATTTT others(19): Show ATTATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03492.hp1 NA19056.hp2 HG03491.hp2 HG03492.hp1 NA19056.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0093 a0002c0002t0002g0097 a0002c0002t0002g0104 a0002c0002t0002g0093 a0002c0002t0002g0097 a0002c0002t0002g0104	3	356	0.0084	26	c.201 others(43): Show c.2017-943_2017-942insAAAAAAAAAAAAAAAAAAAAAAATAA	AGBL2	ENSG00000165923.17	transcript	ENST00000525123.6	protein_coding	13/18			chr11	TogoVar
AGBL2_chr11_47654591_47720369	47691729	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp1 NA19089.hp1 HG02572.hp1 NA19089.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0200 a0002c0002t0002g0024 a0001c0001t0001g0200 a0002c0002t0002g0024	2	356	0.0056	26	c.848 others(41): Show c.848+373_848+374insATATATATATATTTTTTTTTTTTTTT	AGBL2	ENSG00000165923.17	transcript	ENST00000525123.6	protein_coding	9/18			chr11	TogoVar
AGBL2_chr11_47654591_47720369	47691729	A A	AAAAAAAA others(19): Show AAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0331 a0001c0001t0001g0331	1	356	0.0028	26	c.848 others(41): Show c.848+373_848+374insATATATATATATATATTTTTTTTTTT	AGBL2	ENSG00000165923.17	transcript	ENST00000525123.6	protein_coding	9/18			chr11	TogoVar
AGBL4_chr1_48527854_50028954	48837711	C C	CTATATAT others(19): Show CTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0076 a0001c0002t0004g0076	1	104	0.0096	26	c.634 others(45): Show c.634+29454_634+29479dupTATATATATATATATATATATATATA	AGBL4	ENSG00000186094.18	transcript	ENST00000371839.6	protein_coding	6/13			chr1	TogoVar
AGFG2_chr7_100534203_100573220	100551030	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	246	0.0041	26	c.431 others(41): Show c.431+531_431+556dupATATATATATATATATATATATATAT	AGFG2	ENSG00000106351.13	transcript	ENST00000300176.9	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr7	TogoVar
AGK_chr7_141546410_141660244	141602173	T T	TTGTGTGT others(19): Show TTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00673.hp1 HG01099.hp1 others(7): Show HG00597.hp2 HG00673.hp1 HG01099.hp1 HG01192.hp2 NA18955.hp1 NA18960.hp1 NA19000.hp1 NA19064.hp2 NA19086.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0001 a0001c0001t0015	a0001c0001t0001g0028 a0001c0001t0001g0037 a0001c0001t0001g0051 others(7): Show a0001c0001t0001g0028 a0001c0001t0001g0037 a0001c0001t0001g0051 a0001c0001t0001g0059 a0001c0001t0001g0063 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0080 a0001c0001t0001g0102 a0001c0001t0015g0054	10	274	0.0365	26	c.297 others(41): Show c.297+907_297+932dupGTGTGTGTGTGTGTGTGTGTGTGTGT	AGK	ENSG00000006530.18	transcript	ENST00000649286.2	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
AGMO_chr7_15195317_15567015	15299830	T T	TACACACA others(19): Show TACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	236	0.0042	26	c.126 others(47): Show c.1263+65658_1263+65683dupGTGTGTGTGTGTGTGTGTGTGTGT GT	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	12/12			chr7	TogoVar
AGMO_chr7_15195317_15567015	15354489	C C	CGCGTGTG others(19): Show CGCGTGTGTATATACACGTGTGTATAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0150 a0001c0001t0003g0150	1	236	0.0042	26	c.126 others(47): Show c.1263+11024_1263+11025insATATACACACGTGTATATACACAC GC	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	12/12			chr7	TogoVar
AGMO_chr7_15195317_15567015	15365380	T T	TAAAAAAA others(19): Show TAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00558.hp1 HG01074.hp1 others(5): Show HG00280.hp2 HG00558.hp1 HG01074.hp1 HG01168.hp2 HG02615.hp2 HG02647.hp2 HG02683.hp1 HG02723.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0010 a0001c0001 a0005c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0005c0010t0001 a0005c0010t0003	a0001c0001t0001g0032 a0001c0001t0001g0064 a0001c0001t0001g0084 others(5): Show a0001c0001t0001g0032 a0001c0001t0001g0064 a0001c0001t0001g0084 a0001c0001t0002g0117 a0001c0001t0005g0115 a0001c0001t0005g0145 a0005c0010t0001g0194 a0005c0010t0003g0193	8	236	0.0339	26	c.126 others(43): Show c.1263+133_1263+134insTTTTTTTTTTTTTTTTTTTTTTTTTT	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	12/12			chr7	TogoVar
AGMO_chr7_15195317_15567015	15407232	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01081.hp2 HG01433.hp1 others(2): Show HG00280.hp2 HG01081.hp2 HG01433.hp1 HG02615.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0036 a0001c0001t0001g0219 a0001c0001t0002g0023 others(2): Show a0001c0001t0001g0036 a0001c0001t0001g0219 a0001c0001t0002g0023 a0001c0001t0005g0039 a0001c0001t0005g0145	5	236	0.0212	26	c.609 others(45): Show c.609+11325_609+11326insATATATATATATATATATATATATAT	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	5/12			chr7	TogoVar
AGMO_chr7_15195317_15567015	15432369	C C	CACATATA others(19): Show CACATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	236	0.0042	26	c.410 others(43): Show c.410-1262_410-1261insATATATATATATATATATATATATGT	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
AGMO_chr7_15195317_15567015	15432379	T T	TATATATG others(19): Show TATATATGTGTATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03195.hp1 HG02258.hp2 HG03195.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0050 a0001c0011t0001g0210 a0001c0011t0001g0050 a0001c0011t0001g0210	2	236	0.0085	26	c.410 others(43): Show c.410-1272_410-1271insGTATATATATATATATACACATATAT	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
AGMO_chr7_15195317_15567015	15459599	T T	TTGTGTGT others(19): Show TTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01081.hp2 HG01109.hp2 others(22): Show HG00280.hp2 HG01081.hp2 HG01109.hp2 HG01168.hp2 HG01169.hp1 HG01243.hp2 HG01255.hp2 HG01257.hp2 HG01496.hp1 HG01515.hp1 HG02132.hp1 HG02280.hp1 HG02300.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02735.hp1 HG02818.hp1 HG02895.hp2 HG03017.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03490.hp2 NA18986.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0002c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0003t0001 a0002c0002t0001 a0002c0002t0002 a0002c0019t0001	a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0035 others(22): Show a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0059 a0001c0001t0001g0073 a0001c0001t0001g0098 a0001c0001t0001g0136 a0001c0001t0001g0140 a0001c0001t0001g0159 a0001c0001t0001g0169 a0001c0001t0001g0179 a0001c0001t0001g0196 a0001c0001t0001g0203 a0001c0001t0002g0023 a0001c0001t0002g0079 a0001c0001t0002g0197 a0001c0001t0005g0115 a0001c0001t0005g0116 a0001c0001t0005g0145 a0001c0003t0001g0141 a0002c0002t0001g0061 a0002c0002t0002g0172 a0002c0019t0001g0066	25	236	0.1059	26	c.410 others(45): Show c.410-28492_410-28491insCACACACACACACACACACACACACA	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
AGMO_chr7_15195317_15567015	15530991	A A	ATATATTC others(19): Show ATATATTCTATATGTATATTCTATATG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03139.hp1 HG02486.hp1 HG03139.hp1	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0001 a0006c0012t0003 a0006c0012t0001 a0006c0012t0003	a0006c0012t0001g0222 a0006c0012t0003g0223 a0006c0012t0001g0222 a0006c0012t0003g0223	2	236	0.0085	26	c.409 others(45): Show c.409+13780_409+13781insCATATAGAATATACATATAGAATATA	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
AGO3_chr1_35926105_36077500	36045561	C C	CGCTAGAG others(19): Show CGCTAGAGTGTAATGGCGTGATCCCAG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0037 a0001c0001t0018g0037	1	258	0.0039	26	c.227 others(45): Show c.2274+2036_2274+2061dupCCAGGCTAGAGTGTAATGGCGTGATC	AGO3	ENSG00000126070.20	transcript	ENST00000373191.9	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr1	TogoVar
AGO4_chr1_35803016_35862890	35841811	C C	CATATATA others(19): Show CATATATATATATATATATACATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00280.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0012 a0001c0001t0004g0012	2	270	0.0074	26	c.217 others(41): Show c.2175+80_2175+81insCATATATATATATATATATATATATA	AGO4	ENSG00000134698.11	transcript	ENST00000373210.4	protein_coding	15/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
AGPAT3_chr21_43860223_43992592	43959082	T T	TGTGTGTG others(19): Show TGTGTGTGTGGCATGTGTGTGGTTTGC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp2 others(134): Show HG00099.hp1 HG00140.hp1 HG00280.hp2 HG00323.hp2 HG00423.hp1 HG00558.hp2 HG00642.hp1 HG00642.hp2 HG00741.hp1 HG01069.hp1 HG01081.hp1 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp2 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01943.hp1 HG01975.hp1 HG01978.hp1 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02074.hp2 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp2 HG02155.hp2 HG02257.hp2 HG02258.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp2 HG02809.hp1 HG02886.hp1 HG02965.hp2 HG02970.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp2 HG03688.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18952.hp2 NA18955.hp1 NA18968.hp2 NA18973.hp1 NA18974.hp1 NA18975.hp2 NA18977.hp2 NA18980.hp1 NA18980.hp2 NA18984.hp2 NA18993.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19004.hp2 NA19043.hp2 NA19056.hp2 NA19060.hp1 NA19062.hp2 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19070.hp1 NA19082.hp2 NA19084.hp2 NA19085.hp1 NA19087.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(44): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0022 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0029 a0001c0001t0031 a0001c0001t0033 a0001c0001t0034 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0042 a0001c0001t0043 a0001c0001t0046 a0001c0001t0047 a0001c0001t0051 a0001c0001t0054 a0001c0001t0060 a0001c0001t0062 a0001c0001t0068 a0001c0001t0070 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0076 a0001c0001t0077 a0001c0001t0078 a0001c0001t0080 a0001c0009t0002	a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0163 others(134): Show a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0168 a0001c0001t0001g0179 a0001c0001t0001g0200 a0001c0001t0001g0243 a0001c0001t0001g0269 a0001c0001t0001g0295 a0001c0001t0001g0334 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0019 a0001c0001t0002g0023 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0056 a0001c0001t0002g0060 a0001c0001t0002g0078 a0001c0001t0002g0120 a0001c0001t0002g0149 a0001c0001t0002g0178 a0001c0001t0002g0183 a0001c0001t0002g0189 a0001c0001t0002g0199 a0001c0001t0002g0219 a0001c0001t0002g0224 a0001c0001t0002g0238 a0001c0001t0002g0246 a0001c0001t0002g0258 a0001c0001t0002g0267 a0001c0001t0002g0296 a0001c0001t0002g0307 a0001c0001t0002g0332 a0001c0001t0002g0333 a0001c0001t0002g0335 a0001c0001t0002g0336 a0001c0001t0002g0337 a0001c0001t0002g0338 a0001c0001t0002g0339 a0001c0001t0003g0085 a0001c0001t0004g0004 a0001c0001t0004g0010 a0001c0001t0004g0011 a0001c0001t0004g0012 a0001c0001t0004g0029 a0001c0001t0004g0038 a0001c0001t0004g0044 a0001c0001t0004g0079 a0001c0001t0004g0126 a0001c0001t0004g0185 a0001c0001t0004g0188 a0001c0001t0004g0190 a0001c0001t0004g0193 a0001c0001t0004g0203 a0001c0001t0004g0240 a0001c0001t0004g0278 a0001c0001t0004g0281 a0001c0001t0004g0286 a0001c0001t0004g0311 a0001c0001t0004g0312 a0001c0001t0004g0314 a0001c0001t0004g0317 a0001c0001t0004g0340 a0001c0001t0007g0192 a0001c0001t0007g0326 a0001c0001t0007g0327 a0001c0001t0007g0328 a0001c0001t0007g0329 a0001c0001t0008g0039 a0001c0001t0008g0042 a0001c0001t0008g0043 a0001c0001t0008g0143 a0001c0001t0008g0158 a0001c0001t0008g0159 a0001c0001t0010g0110 a0001c0001t0011g0021 a0001c0001t0011g0166 a0001c0001t0011g0204 a0001c0001t0012g0070 a0001c0001t0015g0115 a0001c0001t0015g0116 a0001c0001t0015g0117 a0001c0001t0015g0118 a0001c0001t0016g0071 a0001c0001t0016g0072 a0001c0001t0016g0075 a0001c0001t0017g0098 a0001c0001t0018g0081 a0001c0001t0020g0064 a0001c0001t0020g0065 a0001c0001t0020g0066 a0001c0001t0022g0032 a0001c0001t0022g0051 a0001c0001t0022g0055 a0001c0001t0024g0106 a0001c0001t0024g0107 a0001c0001t0025g0087 a0001c0001t0025g0108 a0001c0001t0026g0059 a0001c0001t0026g0191 a0001c0001t0027g0067 a0001c0001t0029g0083 a0001c0001t0029g0144 a0001c0001t0031g0195 a0001c0001t0031g0196 a0001c0001t0033g0212 a0001c0001t0033g0213 a0001c0001t0034g0105 a0001c0001t0036g0094 a0001c0001t0037g0304 a0001c0001t0038g0109 a0001c0001t0039g0102 a0001c0001t0040g0007 a0001c0001t0042g0092 a0001c0001t0043g0103 a0001c0001t0046g0133 a0001c0001t0047g0025 a0001c0001t0051g0207 a0001c0001t0054g0022 a0001c0001t0060g0302 a0001c0001t0062g0313 a0001c0001t0068g0013 a0001c0001t0070g0134 a0001c0001t0072g0209 a0001c0001t0073g0053 a0001c0001t0074g0211 a0001c0001t0075g0008 a0001c0001t0076g0279 a0001c0001t0077g0254 a0001c0001t0078g0316 a0001c0001t0080g0187 a0001c0009t0002g0186	137	342	0.4006	26	c.-48 others(41): Show c.-48-551_-48-550insTGTGTGTGGCATGTGTGTGGTTTGCG	AGPAT3	ENSG00000160216.21	transcript	ENST00000291572.13	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr21	TogoVar
AGPAT3_chr21_43860223_43992592	43990947	G G	GTATATAT others(19): Show GTATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0232	1	342	0.0029	26	c.85 others(37): Show c.8555_*8556insTATATATATATATATATATATATATA	AGPAT3	ENSG00000160216.21	transcript	ENST00000291572.13	protein_coding		3356		chr21	TogoVar
AGPAT4_chr6_161124967_161279061	161228661	T T	TAAAAAAA others(19): Show TAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0107 a0001c0001t0003g0107	1	264	0.0038	26	c.178 others(43): Show c.178+3374_178+3375insTTTTTTTTTTTTTTTTTTTTTTTTTT	AGPAT4	ENSG00000026652.15	transcript	ENST00000320285.9	protein_coding	2/8			chr6	TogoVar
AGRN_chr1_1015120_1061116	1030777	G G	GCAGCGCA others(19): Show GCAGCGCATGGTGCTGTGAGATCAGCA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0047 a0001c0047	a0001c0047t0001 a0001c0047t0001	a0001c0047t0001g0061 a0001c0047t0001g0061	1	210	0.0048	26	c.464 others(43): Show c.464-4500_464-4499insCAGCGCATGGTGCTGTGAGATCAGCA	AGRN	ENSG00000188157.15	transcript	ENST00000379370.7	protein_coding	2/35			chr1	TogoVar
AHCTF1_chr1_246834098_246936948	246909317	T T	TGAGGCAG others(19): Show TGAGGCAGAAGAATCACCTGAACCCAG	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp2 HG02273.hp1 others(2): Show HG02083.hp1 HG02083.hp2 HG02273.hp1 HG02273.hp2 NA20300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 others(2): Show a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0071 a0002c0002t0001g0104	5	376	0.0133	26	c.557 others(43): Show c.557-1585_557-1560dupCTGGGTTCAGGTGATTCTTCTGCCTC	AHCTF1	ENSG00000153207.16	transcript	ENST00000648844.2	protein_coding	4/35			chr1	TogoVar
AHCYL2_chr7_129220030_129435211	129365628	G G	GTATATAT others(19): Show GTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02647.hp2 HG02630.hp1 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0017 a0001c0001t0001 a0001c0001t0017	a0001c0001t0001g0057 a0001c0001t0017g0066 a0001c0001t0001g0057 a0001c0001t0017g0066	2	292	0.0069	26	c.364 others(45): Show c.364-13993_364-13992insATATATATATATATATATATATATAT	AHCYL2	ENSG00000158467.17	transcript	ENST00000325006.8	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
AHI1_chr6_135278532_135502740	135344926	T T	TCACACAC others(19): Show TCACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0013	a0001c0003t0013g0046 a0001c0003t0013g0046	1	220	0.0046	26	c.316 others(47): Show c.3165+13180_3165+13205dupTGTGTGTGTGTGTGTGTGTGTGTG TG	AHI1	ENSG00000135541.22	transcript	ENST00000265602.11	protein_coding	24/28			chr6	TogoVar
AHI1_chr6_135278532_135502740	135482894	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01952.hp2 HG02258.hp2 others(2): Show HG00323.hp2 HG01952.hp2 HG02258.hp2 HG02647.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0203 others(2): Show a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0203 a0001c0001t0002g0218 a0001c0001t0003g0050	5	220	0.0227	26	c.135 others(43): Show c.135+7728_135+7729insAAAAAAAAAAAAAAAAAAAAAAAAAA	AHI1	ENSG00000135541.22	transcript	ENST00000265602.11	protein_coding	5/28			chr6	TogoVar
AHRR_chr5_316714_443285	340688	A A	ATATATAT others(19): Show ATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0181 a0001c0001t0005g0181	1	268	0.0037	26	c.-10 others(43): Show c.-10-3204_-10-3203insATATATATATATATATATATATATTT	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	340688	A A	ATATATAT others(19): Show ATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0007 a0007c0007t0007	a0007c0007t0007g0247 a0007c0007t0007g0247	1	268	0.0037	26	c.-10 others(43): Show c.-10-3204_-10-3203insATATATATATATATATATTTTTTTTT	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AIF1_chr6_31610234_31622015	31618312	A A	ATTTCTGC others(19): Show ATTTCTGCAAACTTTTCTGCCTTCACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	437	0.0023	26	c.14 others(37): Show c.1412_*1413insTTTCTGCAAACTTTTCTGCCTTCACT	AIF1	ENSG00000204472.13	transcript	ENST00000376059.8	protein_coding		1298		chr6	TogoVar
AIG1_chr6_143055889_143346058	143143528	A A	AAAATATA others(19): Show AAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0153 a0001c0001t0003g0153	1	204	0.0049	26	c.297 others(43): Show c.297+6539_297+6540insAATATATATATATATATATATATATA	AIG1	ENSG00000146416.19	transcript	ENST00000357847.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr6	TogoVar
AIMP2_chr7_6004272_6028834	6009974	A A	AAAAAATA others(19): Show AAAAAATATACATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0297 a0001c0001t0002g0297	1	442	0.0023	26	c.135 others(41): Show c.135+477_135+478insAAAATATACATATATATATATATATA	AIMP2	ENSG00000106305.10	transcript	ENST00000223029.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
AIPL1_chr17_6418738_6440121	6433586	A A	ATCTCTCT others(19): Show ATCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0241 a0001c0004t0005g0241	1	454	0.0022	26	c.276 others(41): Show c.276+307_276+332dupGAGAGAGAGAGAGAGAGAGAGAGAGA	AIPL1	ENSG00000129221.16	transcript	ENST00000381129.8	protein_coding	2/5			chr17	TogoVar
AIRE_chr21_44280876_44303648	44294046	C C	CCACCCCA others(19): Show CCACCCCACACCCATGCCCTGCACCCA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02809.hp2 HG02922.hp2 others(1): Show HG02055.hp1 HG02809.hp2 HG02922.hp2 NA19043.hp1	a0001 a0003 a0001 a0003	a0001c0016 a0003c0020 a0001c0016 a0003c0020	a0001c0016t0004 a0003c0020t0001 a0003c0020t0009 a0001c0016t0004 a0003c0020t0001 a0003c0020t0009	a0001c0016t0004g0031 a0003c0020t0001g0215 a0003c0020t0009g0234 a0001c0016t0004g0031 a0003c0020t0001g0215 a0003c0020t0009g0234	4	426	0.0094	26	c.140 others(43): Show c.1400+142_1400+167dupCACACCCATGCCCTGCACCCACACCC	AIRE	ENSG00000160224.17	transcript	ENST00000291582.6	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr21	TogoVar
AK4_chr1_65143203_65237145	65172063	G G	GTATATAT others(19): Show GTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0048 a0001c0001t0018g0048	1	300	0.0033	26	c.146 others(45): Show c.146-18631_146-18606dupATATATATATATATATATATATATAT	AK4	ENSG00000162433.15	transcript	ENST00000327299.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
AK4_chr1_65143203_65237145	65172103	A A	ATATATAT others(19): Show ATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02129.hp1 NA18956.hp2 NA19057.hp1 others(1): Show HG02129.hp1 NA18956.hp2 NA19057.hp1 NA19083.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0022 a0001c0002t0005 a0001c0002t0022	a0001c0002t0005g0248 a0001c0002t0005g0249 a0001c0002t0005g0250 others(1): Show a0001c0002t0005g0248 a0001c0002t0005g0249 a0001c0002t0005g0250 a0001c0002t0022g0275	4	300	0.0133	26	c.146 others(45): Show c.146-18606_146-18605insATATATATATATATATATATATATTT	AK4	ENSG00000162433.15	transcript	ENST00000327299.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
AK5_chr1_77277019_77564966	77358018	T T	TGTGTGTG others(19): Show TGTGTGTGTGTGTGTGTGTGTGTGTGA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01361.hp1 HG01099.hp1 HG01361.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0096 a0002c0002t0002g0097 a0002c0002t0002g0096 a0002c0002t0002g0097	2	284	0.0070	26	c.891 others(45): Show c.891+17451_891+17452insTGTGTGTGTGTGTGTGTGTGTGTGAG	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
AK5_chr1_77277019_77564966	77368245	A A	ATATATAT others(19): Show ATATATATATATATATGTTATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00438.hp1 others(33): Show HG00099.hp2 HG00323.hp1 HG00438.hp1 HG00621.hp1 HG01099.hp2 HG01261.hp2 HG01346.hp1 HG02027.hp2 HG02071.hp2 HG02738.hp1 HG03139.hp2 HG03490.hp2 HG03492.hp2 HG03942.hp1 NA18940.hp2 NA18951.hp1 NA18957.hp1 NA18959.hp2 NA18960.hp1 NA18961.hp1 NA18961.hp2 NA18966.hp2 NA18973.hp2 NA18982.hp2 NA18986.hp2 NA19000.hp1 NA19003.hp1 NA19005.hp1 NA19005.hp2 NA19010.hp2 NA19030.hp2 NA19054.hp2 NA19067.hp1 NA19067.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0009 a0002c0002 others(1): Show a0001c0001 a0001c0009 a0002c0002 a0002c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0019 a0001c0001t0023 a0001c0001t0028 a0001c0009t0004 a0002c0002t0002 a0002c0002t0005 a0002c0004t0002	a0001c0001t0001g0049 a0001c0001t0001g0063 a0001c0001t0001g0069 others(33): Show a0001c0001t0001g0049 a0001c0001t0001g0063 a0001c0001t0001g0069 a0001c0001t0001g0078 a0001c0001t0001g0114 a0001c0001t0001g0213 a0001c0001t0003g0150 a0001c0001t0003g0154 a0001c0001t0003g0155 a0001c0001t0003g0159 a0001c0001t0003g0164 a0001c0001t0003g0165 a0001c0001t0003g0169 a0001c0001t0003g0170 a0001c0001t0003g0176 a0001c0001t0003g0179 a0001c0001t0003g0182 a0001c0001t0003g0189 a0001c0001t0003g0190 a0001c0001t0003g0194 a0001c0001t0003g0229 a0001c0001t0004g0044 a0001c0001t0006g0144 a0001c0001t0006g0145 a0001c0001t0006g0146 a0001c0001t0019g0158 a0001c0001t0023g0219 a0001c0001t0028g0185 a0001c0009t0004g0091 a0002c0002t0002g0061 a0002c0002t0002g0062 a0002c0002t0002g0065 a0002c0002t0002g0070 a0002c0002t0005g0148 a0002c0002t0005g0192 a0002c0004t0002g0241	36	284	0.1268	26	c.891 others(45): Show c.891+27685_891+27686insTATATATGTTATATATATTATATATA	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
AK5_chr1_77277019_77564966	77391495	G G	GTGTGTAT others(19): Show GTGTGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01952.hp2 others(1): Show HG01070.hp1 HG01071.hp2 HG01952.hp2 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0025 a0001c0001t0004g0093 a0001c0001t0004g0269 others(1): Show a0001c0001t0001g0025 a0001c0001t0004g0093 a0001c0001t0004g0269 a0001c0001t0004g0270	4	284	0.0141	26	c.892 others(45): Show c.892-19485_892-19484insGTGTATATATATATATATATATATAT	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
AK7_chr14_96387128_96494427	96415748	T T	TAATCAAT others(19): Show TAATCAATTTAATACATTAATTAATTA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0265 a0001c0001t0005g0265	1	316	0.0032	26	c.499 others(43): Show c.499-5071_499-5070insCAATTTAATACATTAATTAATTAAAT	AK7	ENSG00000140057.9	transcript	ENST00000267584.9	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr14	TogoVar
AK7_chr14_96387128_96494427	96415748	T T	TAATTAAT others(19): Show TAATTAATTTAATACATTAATTAATTA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00423.hp2 HG00544.hp1 others(66): Show HG00099.hp1 HG00423.hp2 HG00544.hp1 HG00609.hp1 HG00639.hp2 HG00735.hp2 HG01109.hp2 HG01243.hp2 HG01346.hp2 HG01358.hp1 HG01516.hp2 HG02015.hp1 HG02055.hp1 HG02074.hp2 HG02083.hp1 HG02155.hp1 HG02257.hp1 HG02257.hp2 HG02293.hp2 HG02300.hp2 HG02486.hp2 HG02683.hp1 HG02698.hp2 HG02818.hp1 HG03579.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03834.hp1 HG04115.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 NA18943.hp2 NA18946.hp1 NA18948.hp1 NA18950.hp1 NA18951.hp2 NA18953.hp1 NA18954.hp2 NA18955.hp1 NA18956.hp1 NA18957.hp2 NA18959.hp2 NA18962.hp1 NA18962.hp2 NA18966.hp1 NA18970.hp1 NA18974.hp1 NA18979.hp2 NA18984.hp1 NA18985.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA19005.hp2 NA19009.hp2 NA19011.hp2 NA19055.hp2 NA19064.hp1 NA19066.hp2 NA19076.hp1 NA19081.hp1 NA19083.hp2 NA19090.hp2 NA19091.hp1 NA20752.hp2 NA20905.hp2	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0001 a0001c0007 a0002c0002 others(2): Show a0001c0001 a0001c0007 a0002c0002 a0002c0014 a0010c0020	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0007t0003 a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 a0002c0014t0003 a0010c0020t0001	a0001c0001t0001g0015 a0001c0001t0001g0025 a0001c0001t0001g0029 others(66): Show a0001c0001t0001g0015 a0001c0001t0001g0025 a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0041 a0001c0001t0001g0055 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0076 a0001c0001t0001g0086 a0001c0001t0001g0098 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0112 a0001c0001t0001g0118 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0140 a0001c0001t0001g0158 a0001c0001t0001g0173 a0001c0001t0001g0176 a0001c0001t0001g0179 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0207 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0218 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0232 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0257 a0001c0001t0001g0278 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0315 a0001c0001t0002g0057 a0001c0001t0002g0113 a0001c0001t0002g0137 a0001c0001t0002g0157 a0001c0001t0002g0196 a0001c0001t0002g0203 a0001c0001t0002g0219 a0001c0001t0002g0303 a0001c0001t0009g0187 a0001c0007t0003g0044 a0001c0007t0003g0119 a0002c0002t0001g0117 a0002c0002t0002g0169 a0002c0002t0005g0059 a0002c0002t0005g0063 a0002c0014t0003g0058 a0010c0020t0001g0192	69	316	0.2184	26	c.499 others(43): Show c.499-5024_499-4999dupTTAAATTAATTTAATACATTAATTAA	AK7	ENSG00000140057.9	transcript	ENST00000267584.9	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr14	TogoVar
AK7_chr14_96387128_96494427	96415755	T T	TTTAATAC others(19): Show TTTAATACATTAATTAATTAAATTAAA	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0230	1	316	0.0032	26	c.499 others(43): Show c.499-5042_499-5041insATTAATACATTAATTAATTAAATTAA	AK7	ENSG00000140057.9	transcript	ENST00000267584.9	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr14	TogoVar
AK7_chr14_96387128_96494427	96418322	T T	TAAAAAAA others(19): Show TAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01516.hp1 HG01517.hp2 others(4): Show HG00639.hp1 HG01516.hp1 HG01517.hp2 HG02027.hp1 NA18945.hp2 NA18989.hp1 NA18989.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0002c0002t0001	a0001c0001t0001g0022 a0001c0001t0001g0126 a0001c0001t0001g0239 others(4): Show a0001c0001t0001g0022 a0001c0001t0001g0126 a0001c0001t0001g0239 a0001c0001t0002g0123 a0001c0001t0002g0219 a0001c0001t0007g0243 a0002c0002t0001g0028	7	316	0.0222	26	c.499 others(43): Show c.499-2485_499-2484insAAAAAAAAAAAAAAAAAAAAAAAAAA	AK7	ENSG00000140057.9	transcript	ENST00000267584.9	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr14	TogoVar
AK9_chr6_109487855_109696202	109549664	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0261 a0005c0005t0001g0261	1	378	0.0027	26	c.296 others(43): Show c.2964+425_2964+426insAAAAAAAAAAAAAAAAAAAAAAAAAA	AK9	ENSG00000155085.16	transcript	ENST00000424296.7	protein_coding	25/40			chr6	TogoVar
AK9_chr6_109487855_109696202	109636750	T T	TCACACAC others(19): Show TCACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA19068.hp2 NA18961.hp1 NA19068.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0372 a0002c0001t0002g0373 a0002c0001t0002g0372 a0002c0001t0002g0373	2	378	0.0053	26	c.934 others(43): Show c.934-3453_934-3428dupTGTGTGTGTGTGTGTGTGTGTGTGTG	AK9	ENSG00000155085.16	transcript	ENST00000424296.7	protein_coding	10/40			chr6	TogoVar
AK9_chr6_109487855_109696202	109695579	T T	TACACACA others(19): Show TACACACACACACACACACACACACAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0280 a0005c0005t0001g0280	1	378	0.0027	26	c.-44 others(37): Show c.-4445_-4444insCTGTGTGTGTGTGTGTGTGTGTGTGT	AK9	ENSG00000155085.16	transcript	ENST00000424296.7	protein_coding		4378		chr6	TogoVar

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