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
ADGRL3_chr4_61195326_62083335	61711491	T T	TATATATA others(17): Show TATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	58	0.0172	24	c.584 others(43): Show c.584-19130_584-19129insTATATATATATATATATATACACA	ADGRL3	ENSG00000150471.17	transcript	ENST00000683033.1	protein_coding	6/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
ADGRL3_chr4_61195326_62083335	61726210	G G	GTTTTTTT others(17): Show GTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01243.hp2 HG01884.hp2 others(2): Show HG01109.hp2 HG01243.hp2 HG01884.hp2 HG02109.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0024 a0001c0001t0029 a0001c0001t0031 others(2): Show a0001c0001t0024 a0001c0001t0029 a0001c0001t0031 a0001c0003t0006 a0001c0004t0025	a0001c0001t0024g0018 a0001c0001t0029g0057 a0001c0001t0031g0050 others(2): Show a0001c0001t0024g0018 a0001c0001t0029g0057 a0001c0001t0031g0050 a0001c0003t0006g0036 a0001c0004t0025g0010	5	58	0.0862	24	c.584 others(41): Show c.584-4406_584-4405insTTTTTTTTTTTTTTTTTTTTTTTT	ADGRL3	ENSG00000150471.17	transcript	ENST00000683033.1	protein_coding	6/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
ADGRL3_chr4_61195326_62083335	61844575	A A	AAAAAAAA others(17): Show AAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0016 a0001c0001t0002g0016	1	58	0.0172	24	c.148 others(45): Show c.1480+30687_1480+30688insAAAAAAAATATATATATATATATA	ADGRL3	ENSG00000150471.17	transcript	ENST00000683033.1	protein_coding	9/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
ADGRL3_chr4_61195326_62083335	61846948	A A	ATGTGTGT others(17): Show ATGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0030 a0001c0003t0003g0030	1	58	0.0172	24	c.148 others(45): Show c.1480+33082_1480+33083insGTGTGTGTGTGTGTGTGTGTGTGT	ADGRL3	ENSG00000150471.17	transcript	ENST00000683033.1	protein_coding	9/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
ADGRL3_chr4_61195326_62083335	61867515	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02486.hp2 HG02622.hp1 others(5): Show HG01109.hp1 HG02486.hp2 HG02622.hp1 HG02717.hp1 HG03579.hp1 HG03710.hp1 NA19043.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0007	a0001c0001t0001 a0001c0001t0022 a0001c0002t0026 others(4): Show a0001c0001t0001 a0001c0001t0022 a0001c0002t0026 a0001c0003t0003 a0001c0003t0041 a0001c0005t0005 a0001c0007t0001	a0001c0001t0001g0051 a0001c0001t0001g0056 a0001c0001t0022g0017 others(5): Show a0001c0001t0001g0051 a0001c0001t0001g0056 a0001c0001t0022g0017 a0001c0002t0026g0027 a0001c0003t0003g0009 a0001c0003t0041g0038 a0001c0005t0005g0031 a0001c0007t0001g0046	8	58	0.1379	24	c.148 others(45): Show c.1481-25139_1481-25116dupTATATATATATATATATATATATA	ADGRL3	ENSG00000150471.17	transcript	ENST00000683033.1	protein_coding	9/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
ADGRL3_chr4_61195326_62083335	62007383	T T	TATATATA others(17): Show TATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0009 a0001c0004t0009	a0001c0004t0009g0012 a0001c0004t0009g0012	1	58	0.0172	24	c.339 others(43): Show c.3395+9119_3395+9120insTATATATATATATATATATACACA	ADGRL3	ENSG00000150471.17	transcript	ENST00000683033.1	protein_coding	21/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
ADGRL3_chr4_61195326_62083335	62007383	T T	TATATATA others(17): Show TATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0046 a0001c0007t0001g0046	1	58	0.0172	24	c.339 others(43): Show c.3395+9119_3395+9120insTATATATATATATATATATATACA	ADGRL3	ENSG00000150471.17	transcript	ENST00000683033.1	protein_coding	21/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
ADGRV1_chr5_90553797_91169437	90721576	T T	TAAAATAA others(17): Show TAAAATAAAATAAATAAAATATAAA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01433.hp1 HG01496.hp2 others(12): Show HG01346.hp1 HG01433.hp1 HG01496.hp2 HG02083.hp2 HG02293.hp2 HG02698.hp1 HG03098.hp1 HG03540.hp1 HG04115.hp2 HG04184.hp1 NA18990.hp2 NA19002.hp1 NA19009.hp2 NA19056.hp1 NA19062.hp1	a0003 a0006 a0068 others(2): Show a0003 a0006 a0068 a0074 a0075	a0003c0003 a0003c0004 a0003c0007 others(6): Show a0003c0003 a0003c0004 a0003c0007 a0003c0039 a0006c0034 a0006c0035 a0068c0033 a0074c0020 a0075c0021	a0003c0003t0001 a0003c0004t0001 a0003c0007t0001 others(6): Show a0003c0003t0001 a0003c0004t0001 a0003c0007t0001 a0003c0039t0001 a0006c0034t0001 a0006c0035t0001 a0068c0033t0001 a0074c0020t0001 a0075c0021t0001	a0003c0003t0001g0117 a0003c0003t0001g0123 a0003c0003t0001g0135 others(12): Show a0003c0003t0001g0117 a0003c0003t0001g0123 a0003c0003t0001g0135 a0003c0004t0001g0115 a0003c0004t0001g0119 a0003c0004t0001g0133 a0003c0007t0001g0112 a0003c0007t0001g0118 a0003c0007t0001g0126 a0003c0039t0001g0116 a0006c0034t0001g0072 a0006c0035t0001g0127 a0068c0033t0001g0120 a0074c0020t0001g0138 a0075c0021t0001g0137	15	158	0.0949	24	c.974 others(41): Show c.9748+530_9748+531insTAAAATATAAAAAAATAAAATAAA	ADGRV1	ENSG00000164199.18	transcript	ENST00000405460.9	protein_coding	45/89		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADGRV1_chr5_90553797_91169437	90809293	T T	TACACACA others(17): Show TACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0132 a0003c0003t0001g0132	1	158	0.0063	24	c.149 others(43): Show c.14973-929_14973-906dupACACACACACACACACACACACAC	ADGRV1	ENSG00000164199.18	transcript	ENST00000405460.9	protein_coding	73/89		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADGRV1_chr5_90553797_91169437	90851134	T T	TGTGTGTG others(17): Show TGTGTGTGTGTGTGTGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0059 a0059	a0059c0053 a0059c0053	a0059c0053t0001 a0059c0053t0001	a0059c0053t0001g0017 a0059c0053t0001g0017	1	158	0.0063	24	c.172 others(45): Show c.17205-2149_17205-2148insTGTGTGTGTGTGTGAGAGAGAGAG	ADGRV1	ENSG00000164199.18	transcript	ENST00000405460.9	protein_coding	79/89		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADGRV1_chr5_90553797_91169437	90978295	A A	AAAATAAA others(17): Show AAAATAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 NA19043.hp1 HG02615.hp1 NA19043.hp1	a0001 a0027 a0001 a0027	a0001c0002 a0027c0044 a0001c0002 a0027c0044	a0001c0002t0001 a0027c0044t0003 a0001c0002t0001 a0027c0044t0003	a0001c0002t0001g0102 a0027c0044t0003g0003 a0001c0002t0001g0102 a0027c0044t0003g0003	2	158	0.0127	24	c.179 others(45): Show c.17974-7043_17974-7020dupAATAAATAAATAAATAAATAAATA	ADGRV1	ENSG00000164199.18	transcript	ENST00000405460.9	protein_coding	84/89		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADGRV1_chr5_90553797_91169437	91014136	C C	CCACACAC others(17): Show CCACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01884.hp1 HG01891.hp2 others(11): Show HG01358.hp1 HG01884.hp1 HG01891.hp2 HG02135.hp1 HG02155.hp2 HG02976.hp1 HG03130.hp1 HG03130.hp2 HG04184.hp1 NA18747.hp1 NA19009.hp1 NA19030.hp1 NA19064.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0005 a0010 a0012 a0017 a0031 a0041 a0057 a0065 a0068	a0001c0002 a0001c0017 a0002c0001 others(10): Show a0001c0002 a0001c0017 a0002c0001 a0003c0003 a0005c0006 a0010c0070 a0012c0011 a0017c0029 a0031c0076 a0041c0084 a0057c0028 a0065c0079 a0068c0033	a0001c0002t0001 a0001c0017t0004 a0002c0001t0001 others(10): Show a0001c0002t0001 a0001c0017t0004 a0002c0001t0001 a0003c0003t0001 a0005c0006t0002 a0010c0070t0003 a0012c0011t0001 a0017c0029t0001 a0031c0076t0001 a0041c0084t0001 a0057c0028t0001 a0065c0079t0001 a0068c0033t0001	a0001c0002t0001g0028 a0001c0017t0004g0095 a0001c0017t0004g0099 others(11): Show a0001c0002t0001g0028 a0001c0017t0004g0095 a0001c0017t0004g0099 a0002c0001t0001g0016 a0003c0003t0001g0131 a0005c0006t0002g0088 a0010c0070t0003g0057 a0012c0011t0001g0043 a0017c0029t0001g0150 a0031c0076t0001g0046 a0041c0084t0001g0098 a0057c0028t0001g0153 a0065c0079t0001g0011 a0068c0033t0001g0120	14	158	0.0886	24	c.181 others(47): Show c.18152+28630_18152+28653dupACACACACACACACACACACAC AC	ADGRV1	ENSG00000164199.18	transcript	ENST00000405460.9	protein_coding	85/89		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADISSP_chr20_3748508_3772753	3757026	A A	AAAATAAA others(17): Show AAAATAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02602.hp2 NA18980.hp1 HG02080.hp1 HG02602.hp2 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0113 a0001c0001t0002g0239 a0001c0001t0002g0259 a0001c0001t0002g0113 a0001c0001t0002g0239 a0001c0001t0002g0259	3	446	0.0067	24	c.163 others(41): Show c.163-1420_163-1419insATTTATTTATTTATTTATTTATTT	ADISSP	ENSG00000101220.18	transcript	ENST00000379772.4	protein_coding	3/5			chr20	TogoVar
ADK_chr10_74146221_74714290	74274732	G G	GTATATAT others(17): Show GTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02015.hp2 HG02056.hp2 others(4): Show HG01884.hp2 HG02015.hp2 HG02056.hp2 HG02165.hp1 NA18943.hp2 NA18951.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0045 a0001c0001t0001g0054 a0001c0001t0001g0065 others(4): Show a0001c0001t0001g0045 a0001c0001t0001g0054 a0001c0001t0001g0065 a0001c0001t0001g0070 a0001c0001t0001g0084 a0001c0001t0002g0071 a0001c0001t0002g0085	7	200	0.0350	24	c.195 others(43): Show c.195-39919_195-39918insTATATATATATATATATATATATA	ADK	ENSG00000156110.15	transcript	ENST00000539909.6	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADK_chr10_74146221_74714290	74274732	G G	GTGTATAT others(17): Show GTGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02818.hp1 HG02622.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0198 a0001c0001t0001g0195 a0001c0001t0001g0198	2	200	0.0100	24	c.195 others(43): Show c.195-39934_195-39933insGTATATATATATATATATATATAT	ADK	ENSG00000156110.15	transcript	ENST00000539909.6	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADK_chr10_74146221_74714290	74280415	A A	AACACACA others(17): Show AACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02698.hp2 NA19085.hp2 HG01433.hp2 HG02698.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0019	3	200	0.0150	24	c.195 others(43): Show c.195-34243_195-34220dupACACACACACACACACACACACAC	ADK	ENSG00000156110.15	transcript	ENST00000539909.6	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADK_chr10_74146221_74714290	74303585	G G	GTTTTTTT others(17): Show GTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0073 a0001c0001t0002g0073	1	200	0.0050	24	c.195 others(43): Show c.195-11080_195-11079insTTTTTTTTTTTTTTTTTTTTTTTT	ADK	ENSG00000156110.15	transcript	ENST00000539909.6	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADK_chr10_74146221_74714290	74347106	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	200	0.0050	24	c.273 others(43): Show c.273+32374_273+32397dupAAAAAAAAAAAAAAAAAAAAAAAA	ADK	ENSG00000156110.15	transcript	ENST00000539909.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADK_chr10_74146221_74714290	74383386	G G	GTCTGTCT others(17): Show GTCTGTCTCTGTCTCTGTCTCTGTC	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG03710.hp2 HG04228.hp2 HG02056.hp2 HG03710.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0045 a0001c0001t0001g0060 a0001c0001t0001g0038 a0001c0001t0001g0045 a0001c0001t0001g0060	3	200	0.0150	24	c.274 others(43): Show c.274-10751_274-10728dupGTCTCTGTCTCTGTCTCTGTCTCT	ADK	ENSG00000156110.15	transcript	ENST00000539909.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADK_chr10_74146221_74714290	74391650	T T	TACACACA others(17): Show TACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	200	0.0050	24	c.274 others(41): Show c.274-2490_274-2489insCACACACACACACACACACACACA	ADK	ENSG00000156110.15	transcript	ENST00000539909.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADK_chr10_74146221_74714290	74702524	T T	TTTCCTTC others(17): Show TTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02109.hp1 HG02165.hp2 others(10): Show HG01981.hp2 HG02109.hp1 HG02165.hp2 HG02293.hp2 HG02451.hp2 HG02717.hp2 HG03041.hp1 HG03225.hp1 NA18971.hp2 NA18975.hp2 NA19002.hp2 NA19082.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0016 others(10): Show a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0001g0025 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0003g0055	13	200	0.0650	24	c.965 others(41): Show c.965-5771_965-5748dupTCCTTCCTTCCTTCCTTCCTTCCT	ADK	ENSG00000156110.15	transcript	ENST00000539909.6	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADM2_chr22_50476543_50491437	50486679	C C	CGGCTCGG others(17): Show CGGCTCGGGACAGGAGTGTGAGGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	446	0.0022	24	c.37 others(35): Show c.3776_*3777insGGCTCGGGACAGGAGTGTGAGGCT	ADM2	ENSG00000128165.9	transcript	ENST00000395737.2	protein_coding		243		chr22	TogoVar
ADNP_chr20_50883918_50936437	50919289	G G	GTATATAT others(17): Show GTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0192 a0001c0001t0027g0192	1	358	0.0028	24	c.-90 others(41): Show c.-90+9361_-90+9362insTATATATATATATATATATATATA	ADNP	ENSG00000101126.18	transcript	ENST00000621696.5	protein_coding	2/5			chr20	TogoVar
ADNP_chr20_50883918_50936437	50919305	A A	ATATATAT others(17): Show ATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0034 a0001c0003t0034	a0001c0003t0034g0097 a0001c0003t0034g0097	1	358	0.0028	24	c.-90 others(41): Show c.-90+9345_-90+9346insCATATATATATATATATATATATA	ADNP	ENSG00000101126.18	transcript	ENST00000621696.5	protein_coding	2/5			chr20	TogoVar
ADNP_chr20_50883918_50936437	50919315	A A	ATATATAT others(17): Show ATATATATATATATATATATATATC	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0322 a0001c0001t0005g0322	1	358	0.0028	24	c.-90 others(41): Show c.-90+9335_-90+9336insGATATATATATATATATATATATA	ADNP	ENSG00000101126.18	transcript	ENST00000621696.5	protein_coding	2/5			chr20	TogoVar
ADNP_chr20_50883918_50936437	50925263	T T	TACACACA others(17): Show TACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0049 a0001c0002t0049	a0001c0002t0049g0024 a0001c0002t0049g0024	1	358	0.0028	24	c.-90 others(41): Show c.-90+3364_-90+3387dupGTGTGTGTGTGTGTGTGTGTGTGT	ADNP	ENSG00000101126.18	transcript	ENST00000621696.5	protein_coding	2/5			chr20	TogoVar
ADORA2B_chr17_15940130_15980746	15976098	A A	AAAAAAAA others(17): Show AAAAAAAAAAAAAAAATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	346	0.0029	24	c.75 others(33): Show c.756_*757insAAAAAAAAAAAAAAATATATATAT	ADORA2B	ENSG00000170425.4	transcript	ENST00000304222.3	protein_coding		353		chr17	TogoVar
ADPRHL1_chr13_113394611_113458488	113430715	T T	TAGTGGCG others(17): Show TAGTGGCGGGGGTGGCAGTGGCACC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0065 a0001c0065	a0001c0065t0016 a0001c0065t0016	a0001c0065t0016g0079 a0001c0065t0016g0079	1	262	0.0038	24	c.506 others(41): Show c.506-1647_506-1624dupGGTGCCACTGCCACCCCCGCCACT	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	3/7			chr13	TogoVar
ADPRM_chr17_10692594_10716558	10699518	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0071 a0002c0002t0003g0071	1	402	0.0025	24	c.-18 others(41): Show c.-18+1873_-18+1874insTTTTTTTTTTTTTTTTTTTTTTTT	ADPRM	ENSG00000170222.12	transcript	ENST00000379774.5	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
ADRA1B_chr5_159911482_159978012	159963288	G G	GTATATAT others(17): Show GTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02055.hp1 HG03704.hp2 others(6): Show HG01109.hp2 HG02055.hp1 HG03704.hp2 HG03834.hp1 HG04204.hp2 HG06807.hp2 NA18983.hp1 NA19010.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0046 a0001c0001t0001g0142 a0001c0001t0001g0171 others(6): Show a0001c0001t0001g0046 a0001c0001t0001g0142 a0001c0001t0001g0171 a0001c0001t0001g0175 a0001c0001t0001g0186 a0001c0001t0001g0257 a0001c0001t0002g0369 a0001c0002t0001g0055 a0001c0002t0001g0124	9	384	0.0234	24	c.950 others(41): Show c.950-8570_950-8569insATATATATATATATATATATATAT	ADRA1B	ENSG00000170214.5	transcript	ENST00000306675.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADRA1B_chr5_159911482_159978012	159963288	G G	GTATATAT others(17): Show GTATATATATATATATGTATATATA	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG02080.hp2 HG02630.hp2 others(1): Show HG01975.hp2 HG02080.hp2 HG02630.hp2 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0001 a0001c0002t0003 a0001c0001t0004 a0001c0002t0001 a0001c0002t0003	a0001c0001t0004g0230 a0001c0002t0001g0089 a0001c0002t0001g0094 others(1): Show a0001c0001t0004g0230 a0001c0002t0001g0089 a0001c0002t0001g0094 a0001c0002t0003g0093	4	384	0.0104	24	c.950 others(41): Show c.950-8576_950-8575insGTATATATATATATATATATATAT	ADRA1B	ENSG00000170214.5	transcript	ENST00000306675.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADRA1D_chr20_4215630_4254287	4231038	T T	TTTTCTTT others(17): Show TTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03704.hp2 NA18984.hp2 HG02055.hp1 HG03704.hp2 NA18984.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0011 a0001c0001 a0002c0011	a0001c0001t0001 a0002c0011t0005 a0001c0001t0001 a0002c0011t0005	a0001c0001t0001g0094 a0001c0001t0001g0122 a0002c0011t0005g0372 a0001c0001t0001g0094 a0001c0001t0001g0122 a0002c0011t0005g0372	3	452	0.0066	24	c.111 others(43): Show c.1112-8932_1112-8909dupGAAAGAAAGAAAGAAAGAAAGAAA	ADRA1D	ENSG00000171873.8	transcript	ENST00000379453.6	protein_coding	1/1			chr20	TogoVar
ADRA1D_chr20_4215630_4254287	4231064	T T	TTCTTTCT others(17): Show TTCTTTCTTTCTTTCTTCTTCTTTC	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	452	0.0022	24	c.111 others(43): Show c.1112-8935_1112-8934insGAAAGAAGAAGAAAGAAAGAAAGA	ADRA1D	ENSG00000171873.8	transcript	ENST00000379453.6	protein_coding	1/1			chr20	TogoVar
ADRA1D_chr20_4215630_4254287	4231064	T T	TTCTTTCT others(17): Show TTCTTTCTTTCTTTCTTTCTTTCTC	intron_variant intron_variant	MODIFIER	HG02735.hp1 NA18981.hp1 HG02735.hp1 NA18981.hp1	a0002 a0002	a0002c0002 a0002c0004 a0002c0002 a0002c0004	a0002c0002t0002 a0002c0004t0005 a0002c0002t0002 a0002c0004t0005	a0002c0002t0002g0276 a0002c0004t0005g0408 a0002c0002t0002g0276 a0002c0004t0005g0408	2	452	0.0044	24	c.111 others(43): Show c.1112-8935_1112-8934insGAGAAAGAAAGAAAGAAAGAAAGA	ADRA1D	ENSG00000171873.8	transcript	ENST00000379453.6	protein_coding	1/1			chr20	TogoVar
ADRA1D_chr20_4215630_4254287	4237836	G G	GTATTTAT others(17): Show GTATTTATTTATTTATTTATTTATT	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03492.hp2 NA20129.hp2 HG03490.hp1 HG03492.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0004 a0001c0008t0001 a0001c0001t0004 a0001c0008t0001	a0001c0001t0004g0032 a0001c0008t0001g0035 a0001c0001t0004g0032 a0001c0008t0001g0035	3	452	0.0066	24	c.111 others(44): Show c.1111+9987_1111+10010dupAATAAATAAATAAATAAATAAATA	ADRA1D	ENSG00000171873.8	transcript	ENST00000379453.6	protein_coding	1/1			chr20	TogoVar
ADRM1_chr20_62297997_62313862	62309603	T T	TGGGAGGA others(17): Show TGGGAGGAGGGGGGAGGGGGGCAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	368	0.0027	24	c.84 others(33): Show c.842_*843insGGGAGGAGGGGGGAGGGGGGCAGG	ADRM1	ENSG00000130706.13	transcript	ENST00000253003.7	protein_coding		742		chr20	TogoVar
ADRM1_chr20_62297997_62313862	62309639	T T	TGGGGGGG others(17): Show TGGGGGGGGTGGGAGGGGGTGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	368	0.0027	24	c.87 others(33): Show c.878_*879insGGGGGGGGTGGGAGGGGGTGGGGG	ADRM1	ENSG00000130706.13	transcript	ENST00000253003.7	protein_coding		778		chr20	TogoVar
ADRM1_chr20_62297997_62313862	62309639	T T	TGGGGGGG others(17): Show TGGGGGGGTGGGAGGGGGGTGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	368	0.0027	24	c.87 others(33): Show c.878_*879insGGGGGGGTGGGAGGGGGGTGGGGG	ADRM1	ENSG00000130706.13	transcript	ENST00000253003.7	protein_coding		778		chr20	TogoVar
ADSS1_chr14_104719229_104752310	104736881	G G	GATATATA others(17): Show GATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02809.hp2 HG02647.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0197 a0001c0001t0004g0196 a0001c0001t0001g0197 a0001c0001t0004g0196	2	402	0.0050	24	c.296 others(41): Show c.296-1486_296-1463dupATATATATATATATATATATATAT	ADSS1	ENSG00000185100.12	transcript	ENST00000330877.7	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
ADSS2_chr1_244403494_244456909	244435194	A A	AAAAAAAA others(17): Show AAAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03486.hp2 HG02257.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0057 a0001c0001t0002g0063 a0001c0001t0002g0057 a0001c0001t0002g0063	2	408	0.0049	24	c.355 others(41): Show c.355+1630_355+1631insGTTTTTTTTTTTTTTTTTTTTTTT	ADSS2	ENSG00000035687.10	transcript	ENST00000366535.4	protein_coding	3/12			chr1	TogoVar
ADSS2_chr1_244403494_244456909	244444514	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02723.hp1 HG03209.hp1 others(2): Show HG00438.hp2 HG02723.hp1 HG03209.hp1 HG03540.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0031 a0001c0001t0004g0053 a0001c0001t0004g0108 a0001c0001t0004g0031 a0001c0001t0004g0053 a0001c0001t0004g0108	5	408	0.0123	24	c.184 others(41): Show c.184-6747_184-6746insTTTTTTTTTTTTTTTTTTTTTTTT	ADSS2	ENSG00000035687.10	transcript	ENST00000366535.4	protein_coding	1/12			chr1	TogoVar
ADTRP_chr6_11708523_11783803	11774311	A A	AAAATAAA others(17): Show AAAATAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	410	0.0024	24	c.153 others(41): Show c.153+4272_153+4295dupATTTATTTATTTATTTATTTATTT	ADTRP	ENSG00000111863.13	transcript	ENST00000414691.8	protein_coding	1/5			chr6	TogoVar
AFAP1L1_chr5_149266859_149348637	149305878	C C	CCACACAC others(17): Show CCACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	286	0.0035	24	c.437 others(39): Show c.437-408_437-385dupACACACACACACACACACACACAC	AFAP1L1	ENSG00000157510.14	transcript	ENST00000296721.9	protein_coding	5/18		INFO_REALIGN_3_PRIME	chr5	TogoVar
AFAP1L1_chr5_149266859_149348637	149307811	C C	CCTCTCTC others(17): Show CCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	286	0.0035	24	c.747 others(39): Show c.747+204_747+205insCTCTCTCTCTCTCTCTCTCTCTCT	AFAP1L1	ENSG00000157510.14	transcript	ENST00000296721.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr5	TogoVar
AFAP1L1_chr5_149266859_149348637	149307818	T T	TTCTCTCT others(17): Show TTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01496.hp1 HG02071.hp2 others(14): Show HG01346.hp2 HG01496.hp1 HG02071.hp2 HG02698.hp2 HG03225.hp2 HG03453.hp2 HG03942.hp1 NA18612.hp1 NA18955.hp1 NA18965.hp1 NA18973.hp1 NA18994.hp1 NA18994.hp2 NA19002.hp1 NA19002.hp2 NA19091.hp1 NA19091.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0001c0011 a0009c0012 a0001c0001 a0001c0011 a0009c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0013 a0001c0011t0002 a0009c0012t0010	a0001c0001t0001g0032 a0001c0001t0001g0048 a0001c0001t0001g0143 others(14): Show a0001c0001t0001g0032 a0001c0001t0001g0048 a0001c0001t0001g0143 a0001c0001t0001g0199 a0001c0001t0001g0204 a0001c0001t0001g0226 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0002g0103 a0001c0001t0002g0120 a0001c0001t0002g0125 a0001c0001t0004g0105 a0001c0001t0004g0246 a0001c0001t0007g0277 a0001c0001t0013g0200 a0001c0011t0002g0104 a0009c0012t0010g0061	17	286	0.0594	24	c.747 others(39): Show c.747+221_747+244dupCTCTCTCTCTCTCTCTCTCTCTCT	AFAP1L1	ENSG00000157510.14	transcript	ENST00000296721.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr5	TogoVar
AFAP1L2_chr10_114289824_114409502	114318751	A A	AAAAAAAA others(17): Show AAAAAAAAAAAGAAAAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG03579.hp2 NA21309.hp1 HG02602.hp1 HG03579.hp2 NA21309.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0001c0004 a0004c0009 a0001c0002 a0001c0004 a0004c0009	a0001c0002t0003 a0001c0004t0014 a0004c0009t0009 a0001c0002t0003 a0001c0004t0014 a0004c0009t0009	a0001c0002t0003g0055 a0001c0004t0014g0015 a0004c0009t0009g0242 a0001c0002t0003g0055 a0001c0004t0014g0015 a0004c0009t0009g0242	3	262	0.0115	24	c.407 others(41): Show c.407-2987_407-2986insCTTTTCTTTTTTTCTTTTTTTTTT	AFAP1L2	ENSG00000169129.16	transcript	ENST00000304129.9	protein_coding	5/18			chr10	TogoVar
AFAP1L2_chr10_114289824_114409502	114327147	T T	TTATATAT others(17): Show TTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01069.hp1 HG01071.hp1 others(7): Show HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01099.hp2 HG01168.hp2 HG02055.hp1 HG04184.hp1 NA18966.hp2 NA18993.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0064 others(7): Show a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0064 a0001c0001t0001g0069 a0001c0001t0001g0175 a0001c0001t0001g0226 a0001c0001t0004g0095 a0001c0001t0004g0118 a0001c0001t0004g0122 a0001c0001t0004g0169	10	262	0.0382	24	c.316 others(41): Show c.316-3910_316-3887dupTATATATATATATATATATATATA	AFAP1L2	ENSG00000169129.16	transcript	ENST00000304129.9	protein_coding	4/18			chr10	TogoVar
AFAP1L2_chr10_114289824_114409502	114360485	C C	CTAGATAG others(17): Show CTAGATAGATAGATAGATAGATAGA	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02523.hp1 HG03654.hp2 others(3): Show HG02080.hp2 HG02523.hp1 HG03654.hp2 NA18983.hp2 NA19081.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0003t0002 a0001c0004t0001 a0001c0001t0001 a0001c0003t0002 a0001c0004t0001	a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0001g0101 others(3): Show a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0001g0101 a0001c0001t0001g0197 a0001c0003t0002g0060 a0001c0004t0001g0155	6	262	0.0229	24	c.17- others(41): Show c.17-19755_17-19754insTCTATCTATCTATCTATCTATCTA	AFAP1L2	ENSG00000169129.16	transcript	ENST00000304129.9	protein_coding	1/18			chr10	TogoVar
AFAP1L2_chr10_114289824_114409502	114360493	A A	ATAGATAG others(17): Show ATAGATAGATAGATAGATAGATAGT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0227 a0001c0001t0004g0227	1	262	0.0038	24	c.17- others(41): Show c.17-19763_17-19762insACTATCTATCTATCTATCTATCTA	AFAP1L2	ENSG00000169129.16	transcript	ENST00000304129.9	protein_coding	1/18			chr10	TogoVar
AFAP1L2_chr10_114289824_114409502	114360505	A A	ATAGATAG others(17): Show ATAGATAGATAGATAGATAGATAGT	intron_variant intron_variant	MODIFIER	HG03471.hp1 NA18947.hp2 NA18954.hp1 HG03471.hp1 NA18947.hp2 NA18954.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0012 a0002c0006 a0001c0001 a0001c0012 a0002c0006	a0001c0001t0001 a0001c0012t0011 a0002c0006t0007 a0001c0001t0001 a0001c0012t0011 a0002c0006t0007	a0001c0001t0001g0090 a0001c0012t0011g0088 a0002c0006t0007g0051 a0001c0001t0001g0090 a0001c0012t0011g0088 a0002c0006t0007g0051	3	262	0.0115	24	c.17- others(41): Show c.17-19775_17-19774insACTATCTATCTATCTATCTATCTA	AFAP1L2	ENSG00000169129.16	transcript	ENST00000304129.9	protein_coding	1/18			chr10	TogoVar

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