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
ALLC_chr2_3653200_3707671	3690296	C C	CCCTCCCC others(19): Show CCCTCCCCCTCCCCTCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0106 a0002c0002t0001g0106	1	274	0.0037	26	c.512 others(43): Show c.512-5419_512-5418insTCCCCCTCCCCTCCCCCTCCCCCTCC	ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ALOX15B_chr17_8034059_8054134	8049283	T T	TAAAAAAA others(19): Show TAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0122 a0002c0002t0002g0122	1	470	0.0021	26	c.71 others(35): Show c.718_*719insAAAAAAAAAAAAAAAAAAAAAAAAAA	ALOX15B	ENSG00000179593.16	transcript	ENST00000380183.9	protein_coding		150		chr17	TogoVar
ALOX15B_chr17_8034059_8054134	8050306	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0015 a0015	a0015c0024 a0015c0024	a0015c0024t0012 a0015c0024t0012	a0015c0024t0012g0015 a0015c0024t0012g0015	1	470	0.0021	26	c.17 others(37): Show c.1741_*1742insAAAAAAAAAAAAAAAAAAAAAAAAAA	ALOX15B	ENSG00000179593.16	transcript	ENST00000380183.9	protein_coding		1173		chr17	TogoVar
ALPK2_chr18_58476247_58634091	58573234	G G	GTATATAT others(19): Show GTATATATGTGTATATATGTGTATATA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0214 a0001c0006t0003g0214	1	320	0.0031	26	c.196 others(45): Show c.1962+5579_1962+5580insTATATACACATATATACACATATATA	ALPK2	ENSG00000198796.7	transcript	ENST00000361673.4	protein_coding	4/12			chr18	TogoVar
ALPK2_chr18_58476247_58634091	58578733	G G	GACACACA others(19): Show GACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG04228.hp2 HG01433.hp2 HG04228.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0021 a0004c0004t0001 a0004c0004t0021	a0004c0004t0001g0229 a0004c0004t0021g0117 a0004c0004t0001g0229 a0004c0004t0021g0117	2	320	0.0063	26	c.196 others(41): Show c.1962+55_1962+80dupGTGTGTGTGTGTGTGTGTGTGTGTGT	ALPK2	ENSG00000198796.7	transcript	ENST00000361673.4	protein_coding	4/12			chr18	TogoVar
ALPK2_chr18_58476247_58634091	58578733	G G	GACACACA others(19): Show GACACACACACGCGCGCACGCGCGCGC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0231 a0002c0002t0001g0231	1	320	0.0031	26	c.196 others(41): Show c.1962+80_1962+81insGCGCGCGCGTGCGCGCGTGTGTGTGT	ALPK2	ENSG00000198796.7	transcript	ENST00000361673.4	protein_coding	4/12			chr18	TogoVar
ALPK2_chr18_58476247_58634091	58578733	G G	GACACACA others(19): Show GACACACACACGCGCGCGCGCGCACAC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01167.hp1 HG01515.hp1 others(6): Show HG01069.hp1 HG01167.hp1 HG01515.hp1 HG02735.hp2 HG03098.hp1 HG03098.hp2 HG03579.hp2 HG03834.hp1 NA19030.hp2	a0001 a0002 a0012 others(1): Show a0001 a0002 a0012 a0032	a0001c0006 a0002c0014 a0012c0023 others(1): Show a0001c0006 a0002c0014 a0012c0023 a0032c0076	a0001c0006t0002 a0001c0006t0009 a0002c0014t0001 others(3): Show a0001c0006t0002 a0001c0006t0009 a0002c0014t0001 a0012c0023t0001 a0012c0023t0013 a0032c0076t0010	a0001c0006t0002g0044 a0001c0006t0002g0047 a0001c0006t0002g0048 others(6): Show a0001c0006t0002g0044 a0001c0006t0002g0047 a0001c0006t0002g0048 a0001c0006t0009g0043 a0001c0006t0009g0045 a0002c0014t0001g0249 a0012c0023t0001g0137 a0012c0023t0013g0092 a0032c0076t0010g0114	9	320	0.0281	26	c.196 others(41): Show c.1962+80_1962+81insGTGTGCGCGCGCGCGCGTGTGTGTGT	ALPK2	ENSG00000198796.7	transcript	ENST00000361673.4	protein_coding	4/12			chr18	TogoVar
ALPK2_chr18_58476247_58634091	58578733	G G	GACACACA others(19): Show GACACACACACGCGCGCGCGCGCGCAC	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp2 HG02970.hp1 HG02970.hp2	a0008 a0022 a0008 a0022	a0008c0041 a0022c0022 a0008c0041 a0022c0022	a0008c0041t0001 a0022c0022t0004 a0008c0041t0001 a0022c0022t0004	a0008c0041t0001g0136 a0022c0022t0004g0145 a0008c0041t0001g0136 a0022c0022t0004g0145	2	320	0.0063	26	c.196 others(41): Show c.1962+80_1962+81insGTGCGCGCGCGCGCGCGTGTGTGTGT	ALPK2	ENSG00000198796.7	transcript	ENST00000361673.4	protein_coding	4/12			chr18	TogoVar
ALX4_chr11_44255440_44315139	44309177	G G	GTCCCGCA others(19): Show GTCCCGCAGCCCCCGCAGCCCCGCAGC	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0014 a0002c0004t0014	a0002c0004t0014g0164 a0002c0004t0014g0164	1	388	0.0026	26	c.466 others(41): Show c.466+419_466+420insGCTGCGGGGCTGCGGGGGCTGCGGGA	ALX4	ENSG00000052850.8	transcript	ENST00000652299.1	protein_coding	1/3			chr11	TogoVar
AMBP_chr9_114055127_114083300	114066376	C C	CGTGTGTG others(19): Show CGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	454	0.0022	26	c.603 others(43): Show c.603+3297_603+3322dupACACACACACACACACACACACACAC	AMBP	ENSG00000106927.12	transcript	ENST00000265132.8	protein_coding	6/9			chr9	TogoVar
AMBRA1_chr11_46391414_46599023	46419995	T T	TACACACA others(19): Show TACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01257.hp1 HG01884.hp2 others(22): Show HG00673.hp1 HG01257.hp1 HG01884.hp2 HG02055.hp1 HG02109.hp1 HG02145.hp1 HG02258.hp2 HG02572.hp2 HG02965.hp1 HG03017.hp2 HG03139.hp2 HG03491.hp1 HG03491.hp2 HG03516.hp1 HG03704.hp1 NA18522.hp1 NA18747.hp1 NA18964.hp2 NA18971.hp2 NA18972.hp2 NA18984.hp2 NA19030.hp1 NA19043.hp2 NA19082.hp1 NA21309.hp2	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0009 a0004c0006 a0006c0008	a0001c0001t0001 a0001c0002t0002 a0001c0004t0001 others(4): Show a0001c0001t0001 a0001c0002t0002 a0001c0004t0001 a0001c0005t0001 a0001c0009t0001 a0004c0006t0001 a0006c0008t0001	a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0050 others(22): Show a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0050 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0074 a0001c0001t0001g0088 a0001c0001t0001g0096 a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0001g0126 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0160 a0001c0002t0002g0013 a0001c0002t0002g0047 a0001c0002t0002g0151 a0001c0002t0002g0152 a0001c0004t0001g0120 a0001c0005t0001g0012 a0001c0009t0001g0031 a0004c0006t0001g0089 a0006c0008t0001g0097	25	160	0.1563	26	c.297 others(45): Show c.2977-1969_2977-1944dupGTGTGTGTGTGTGTGTGTGTGTGTGT	AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	14/17			chr11	TogoVar
AMBRA1_chr11_46391414_46599023	46585695	A A	AAAATATA others(19): Show AAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	160	0.0063	26	c.-12 others(45): Show c.-121+8132_-121+8133insATATATATATATATATATATATATTT	AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	1/17			chr11	TogoVar
AMDHD2_chr16_2515371_2536417	2533430	A A	ATTTTTTT others(19): Show ATTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18939.hp2 NA18971.hp2 NA18972.hp2 others(3): Show NA18939.hp2 NA18971.hp2 NA18972.hp2 NA18993.hp1 NA19000.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0022 a0001c0001t0001 a0001c0001t0022	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0058 a0001c0001t0001g0073 a0001c0001t0022g0046	6	318	0.0189	26	c.38 others(37): Show c.3867_*3868insTTTTTTTTTTTTTTTTTTTTTTTTTT	AMDHD2	ENSG00000162066.16	transcript	ENST00000293971.11	protein_coding		2014		chr16	TogoVar
AMER2_chr13_25156679_25177288	25159308	A A	AATATGAT others(19): Show AATATGATATATATTCTCATATATAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0067 a0001c0001t0067	a0001c0001t0067g0000 a0001c0001t0067g0000	1	416	0.0024	26	c.10 others(39): Show c.10295_*10296insATTATATATGAGAATATATATCATAT	AMER2	ENSG00000165566.13	transcript	ENST00000515384.2	protein_coding		2370		chr13	TogoVar
AMER2_chr13_25156679_25177288	25159308	A A	AATATGTT others(19): Show AATATGTTATATATTCTCATATATAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG01070.hp1 others(22): Show HG00099.hp1 HG00323.hp1 HG01070.hp1 HG01109.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01496.hp1 HG01516.hp2 HG01517.hp2 HG01928.hp1 HG01943.hp2 HG01981.hp1 HG02004.hp2 HG02109.hp1 HG02293.hp1 HG02886.hp1 HG02886.hp2 HG03491.hp1 HG03492.hp1 HG03942.hp2 HG04199.hp1 NA18941.hp1 NA20129.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0014 others(1): Show a0001c0001 a0001c0005 a0001c0014 a0001c0015	a0001c0001t0003 a0001c0001t0005 a0001c0001t0012 others(8): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0012 a0001c0001t0038 a0001c0001t0039 a0001c0001t0043 a0001c0001t0058 a0001c0001t0059 a0001c0005t0003 a0001c0014t0048 a0001c0015t0005	a0001c0001t0003g0000 a0001c0001t0005g0000 a0001c0001t0012g0000 others(8): Show a0001c0001t0003g0000 a0001c0001t0005g0000 a0001c0001t0012g0000 a0001c0001t0038g0000 a0001c0001t0039g0000 a0001c0001t0043g0000 a0001c0001t0058g0000 a0001c0001t0059g0000 a0001c0005t0003g0000 a0001c0014t0048g0000 a0001c0015t0005g0000	25	416	0.0601	26	c.10 others(39): Show c.10295_*10296insATTATATATGAGAATATATAACATAT	AMER2	ENSG00000165566.13	transcript	ENST00000515384.2	protein_coding		2370		chr13	TogoVar
AMFR_chr16_56356452_56430545	56406552	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0043 a0001c0001t0022g0043	1	356	0.0028	26	c.667 others(43): Show c.667-1309_667-1308insTTTTTTTTTTTTTTTTTTTTTTTTTT	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	4/13			chr16	TogoVar
AMIGO1_chr1_109499178_109514727	109503474	G G	GTATATAT others(19): Show GTATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	400	0.0025	26	c.39 others(37): Show c.3956_*3957insTATATATATATATATATATATATATA	AMIGO1	ENSG00000181754.7	transcript	ENST00000369864.5	protein_coding		703		chr1	TogoVar
AMIGO1_chr1_109499178_109514727	109503476	T T	TCATATAT others(19): Show TCATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	400	0.0025	26	c.39 others(37): Show c.3954_*3955insTATATATATATATATATATATATATG	AMIGO1	ENSG00000181754.7	transcript	ENST00000369864.5	protein_coding		701		chr1	TogoVar
AMPD3_chr11_10450264_10512579	10462725	G G	GAGAGAAA others(19): Show GAGAGAAAGGCCGGGAAAGAGAGAGAA	intron_variant intron_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0161 a0001c0001t0003g0161	1	390	0.0026	26	c.221 others(42): Show c.221+987_221+1012dupGAGAAAGGCCGGGAAAGAGAGAGAAA	AMPD3	ENSG00000133805.16	transcript	ENST00000396553.7	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr11	TogoVar
AMPH_chr7_38378704_38636373	38407021	C C	CCTCTCTC others(19): Show CCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01168.hp2 HG02040.hp1 others(3): Show HG00642.hp1 HG01168.hp2 HG02040.hp1 HG02293.hp2 NA19058.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0002 a0001c0003t0002 a0001c0001t0001 a0001c0002t0002 a0001c0003t0002	a0001c0001t0001g0205 a0001c0001t0001g0252 a0001c0002t0002g0021 others(3): Show a0001c0001t0001g0205 a0001c0001t0001g0252 a0001c0002t0002g0021 a0001c0002t0002g0192 a0001c0002t0002g0196 a0001c0003t0002g0272	6	288	0.0208	26	c.139 others(47): Show c.1398+10778_1398+10803dupAGAGAGAGAGAGAGAGAGAGAGAG AG	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	17/20			chr7	TogoVar
AMPH_chr7_38378704_38636373	38416102	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00438.hp1 HG00735.hp2 others(13): Show HG00323.hp1 HG00438.hp1 HG00735.hp2 HG00741.hp2 HG01070.hp1 HG01261.hp2 HG02148.hp2 HG02698.hp2 HG02965.hp2 HG03130.hp1 HG03130.hp2 HG04115.hp1 HG04184.hp1 HG04204.hp1 HG06807.hp2 NA20300.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0003c0006t0004	a0001c0001t0001g0091 a0001c0001t0001g0109 a0001c0001t0001g0144 others(13): Show a0001c0001t0001g0091 a0001c0001t0001g0109 a0001c0001t0001g0144 a0001c0001t0003g0016 a0001c0001t0003g0032 a0001c0001t0003g0110 a0001c0001t0003g0114 a0001c0001t0003g0136 a0001c0001t0003g0189 a0001c0001t0003g0242 a0001c0001t0003g0278 a0001c0001t0003g0285 a0001c0001t0004g0155 a0001c0001t0004g0255 a0003c0006t0004g0007 a0003c0006t0004g0088	16	288	0.0556	26	c.139 others(45): Show c.1398+1722_1398+1723insATATATATATATATATATATATATAT	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	17/20			chr7	TogoVar
AMTN_chr4_70513569_70537743	70516404	G G	GTATATAT others(19): Show GTATATATATATATATATATATACGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18945.hp1 NA18948.hp2 NA18988.hp1 others(1): Show NA18945.hp1 NA18948.hp2 NA18988.hp1 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0013 a0001c0001t0002g0007 a0001c0001t0002g0013	4	458	0.0087	26	c.-22 others(37): Show c.-2266_-2265insTATATATATATATATATATATACGTA	AMTN	ENSG00000187689.10	transcript	ENST00000339336.9	protein_coding		2164		chr4	TogoVar
AMZ2_chr17_68243043_68262155	68247357	A A	AAAAAAAA others(19): Show AAAAAAAAAGCAAGAAAAAGAAATAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0004 a0001c0001t0003g0004	1	438	0.0023	26	c.-13 others(37): Show c.-1349_-1348insAAAAAAAAGCAAGAAAAAGAAATAAG	AMZ2	ENSG00000196704.14	transcript	ENST00000359904.8	protein_coding		685		chr17	TogoVar
ANAPC10_chr4_144989576_145103196	145026920	C C	CATATATA others(19): Show CATATATACATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0226	1	336	0.0030	26	c.328 others(45): Show c.328-31318_328-31317insATATATATATATATATATGTATATAT	ANAPC10	ENSG00000164162.14	transcript	ENST00000507656.6	protein_coding	4/4			chr4	TogoVar
ANAPC10_chr4_144989576_145103196	145026945	A A	ATATATAT others(19): Show ATATATATATATATATATATATGTGTG	intron_variant intron_variant	MODIFIER	HG01167.hp2 NA19057.hp2 NA19063.hp2 others(1): Show HG01167.hp2 NA19057.hp2 NA19063.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0180 a0001c0001t0001g0215 others(1): Show a0001c0001t0001g0164 a0001c0001t0001g0180 a0001c0001t0001g0215 a0001c0001t0001g0257	4	336	0.0119	26	c.328 others(45): Show c.328-31343_328-31342insCACACATATATATATATATATATATA	ANAPC10	ENSG00000164162.14	transcript	ENST00000507656.6	protein_coding	4/4			chr4	TogoVar
ANAPC10_chr4_144989576_145103196	145026945	A A	ATATATAT others(19): Show ATATATATATATATATATATGTGTGTG	intron_variant intron_variant	MODIFIER	HG01516.hp1 NA19079.hp2 HG01516.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0256 a0001c0001t0001g0193 a0001c0001t0001g0256	2	336	0.0060	26	c.328 others(45): Show c.328-31343_328-31342insCACACACATATATATATATATATATA	ANAPC10	ENSG00000164162.14	transcript	ENST00000507656.6	protein_coding	4/4			chr4	TogoVar
ANAPC10_chr4_144989576_145103196	145026945	A A	ATATATAT others(19): Show ATATATATATATATATATGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0247	1	336	0.0030	26	c.328 others(45): Show c.328-31343_328-31342insCACACACACATATATATATATATATA	ANAPC10	ENSG00000164162.14	transcript	ENST00000507656.6	protein_coding	4/4			chr4	TogoVar
ANAPC10_chr4_144989576_145103196	145034523	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03225.hp2 NA19007.hp1 HG03225.hp2 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0053 a0001c0001t0003g0334 a0001c0001t0001g0053 a0001c0001t0003g0334	2	336	0.0060	26	c.327 others(45): Show c.327+30048_327+30049insTATATATATATATATATATATATATA	ANAPC10	ENSG00000164162.14	transcript	ENST00000507656.6	protein_coding	4/4			chr4	TogoVar
ANAPC10_chr4_144989576_145103196	145034543	A A	ATATATAT others(19): Show ATATATATATATATATATGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02723.hp2 HG01243.hp1 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0008 a0001c0001t0006g0009 a0001c0001t0006g0008 a0001c0001t0006g0009	2	336	0.0060	26	c.327 others(45): Show c.327+30028_327+30029insCACACACACATATATATATATATATA	ANAPC10	ENSG00000164162.14	transcript	ENST00000507656.6	protein_coding	4/4			chr4	TogoVar
ANAPC16_chr10_72211012_72240860	72218165	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0036 a0001c0001t0003g0036	1	352	0.0028	26	c.-28 others(43): Show c.-28+2028_-28+2029insAAAAAAAAAAAAAAAAAAAATATATA	ANAPC16	ENSG00000166295.9	transcript	ENST00000299381.5	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr10	TogoVar
ANAPC1_chr2_111762640_111889193	111764813	T T	TATATATA others(19): Show TATATATATATATATATACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0287 a0001c0003t0004g0287	1	370	0.0027	26	c.44 others(37): Show c.4477_*4478insGTGTGTGTGTATATATATATATATAT	ANAPC1	ENSG00000153107.13	transcript	ENST00000341068.8	protein_coding		2826		chr2	TogoVar
ANAPC1_chr2_111762640_111889193	111764813	T T	TATATATA others(19): Show TATATATATATATATATATACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG01099.hp1 HG02735.hp1 others(2): Show HG01081.hp1 HG01099.hp1 HG02735.hp1 NA18968.hp1 NA18999.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0018 a0001c0003t0004 a0001c0003t0018	a0001c0003t0004g0269 a0001c0003t0004g0271 a0001c0003t0004g0277 others(2): Show a0001c0003t0004g0269 a0001c0003t0004g0271 a0001c0003t0004g0277 a0001c0003t0004g0294 a0001c0003t0018g0295	5	370	0.0135	26	c.44 others(37): Show c.4477_*4478insGTGTGTGTATATATATATATATATAT	ANAPC1	ENSG00000153107.13	transcript	ENST00000341068.8	protein_coding		2826		chr2	TogoVar
ANAPC1_chr2_111762640_111889193	111764813	T T	TATATATA others(19): Show TATATATATATATATATATATACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0274 a0001c0003t0004g0274	1	370	0.0027	26	c.44 others(37): Show c.4477_*4478insGTGTGTATATATATATATATATATAT	ANAPC1	ENSG00000153107.13	transcript	ENST00000341068.8	protein_coding		2826		chr2	TogoVar
ANAPC1_chr2_111762640_111889193	111764813	T T	TATATATA others(19): Show TATATATATATATATATATATATACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00609.hp2 HG00673.hp2 others(4): Show HG00544.hp2 HG00609.hp2 HG00673.hp2 HG02155.hp1 NA18948.hp1 NA19057.hp1 NA19075.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0263 a0001c0003t0004g0265 a0001c0003t0004g0278 others(4): Show a0001c0003t0004g0263 a0001c0003t0004g0265 a0001c0003t0004g0278 a0001c0003t0004g0284 a0001c0003t0004g0301 a0001c0003t0004g0302 a0001c0003t0004g0303	7	370	0.0189	26	c.44 others(37): Show c.4477_*4478insGTGTATATATATATATATATATATAT	ANAPC1	ENSG00000153107.13	transcript	ENST00000341068.8	protein_coding		2826		chr2	TogoVar
ANAPC1_chr2_111762640_111889193	111832937	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0185 a0001c0004t0003g0185	1	370	0.0027	26	c.247 others(43): Show c.2476+282_2476+283insTTTTTTTTTTTTTTTTTTTTTTTTTT	ANAPC1	ENSG00000153107.13	transcript	ENST00000341068.8	protein_coding	20/47			chr2	TogoVar
ANAPC1_chr2_111762640_111889193	111846546	T T	TATACATA others(19): Show TATACATATACATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0263 a0001c0003t0004g0263	1	370	0.0027	26	c.185 others(43): Show c.1852+591_1852+592insGTATATATATATATATGTATATGTAT	ANAPC1	ENSG00000153107.13	transcript	ENST00000341068.8	protein_coding	16/47			chr2	TogoVar
ANAPC5_chr12_121303245_121357411	121357400	G G	GAAAGAAA others(19): Show GAAAGAAAGAAAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG01069.hp2 HG01106.hp1 HG00738.hp2 HG01069.hp2 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0154	3	278	0.0108	26	c.-50 others(37): Show c.-5061_-5060insTTCTTTCTTTCTTTCTTTCTTTCTTT	ANAPC5	ENSG00000089053.13	transcript	ENST00000261819.8	protein_coding		4990		chr12	TogoVar
ANAPC7_chr12_110367900_110408708	110382459	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0228 a0002c0005t0001g0228	1	298	0.0034	26	c.935 others(41): Show c.935+383_935+384insATATATATATATATATATATATATAT	ANAPC7	ENSG00000196510.14	transcript	ENST00000455511.9	protein_coding	7/10			chr12	TogoVar
ANGEL2_chr1_212987182_213020867	212996640	A A	AAAAAAAA others(19): Show AAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0220 a0001c0001t0004g0220	1	392	0.0026	26	c.148 others(43): Show c.1483+514_1483+515insATATATATATATATATATATTTTTTT	ANGEL2	ENSG00000174606.14	transcript	ENST00000366962.8	protein_coding	8/8			chr1	TogoVar
ANGPT2_chr8_6494632_6568245	6562552	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0260 a0001c0003t0006g0260	1	336	0.0030	26	c.288 others(39): Show c.288+94_288+95insAAAAAAAAAAAAAAAAAAAAAAAAAA	ANGPT2	ENSG00000091879.14	transcript	ENST00000629816.3	protein_coding	1/8			chr8	TogoVar
ANGPTL1_chr1_178844535_178876077	178856202	G G	GAGATATA others(19): Show GAGATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0066 a0001c0003t0006g0066	1	424	0.0024	26	c.824 others(43): Show c.824-2416_824-2415insATATATATATATATATATATATATCT	ANGPTL1	ENSG00000116194.13	transcript	ENST00000234816.7	protein_coding	3/5			chr1	TogoVar
ANGPTL1_chr1_178844535_178876077	178856234	T T	TATATATA others(19): Show TATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0291 a0001c0001t0001g0291	1	424	0.0024	26	c.824 others(43): Show c.824-2448_824-2447insGTGTATATATATATATATATATATAT	ANGPTL1	ENSG00000116194.13	transcript	ENST00000234816.7	protein_coding	3/5			chr1	TogoVar
ANK1_chr8_41648225_41802622	41703422	G G	GTGTATAT others(19): Show GTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	278	0.0036	26	c.229 others(43): Show c.2295+618_2295+619insTATATATATATATATATATATATACA	ANK1	ENSG00000029534.22	transcript	ENST00000289734.13	protein_coding	20/42			chr8	TogoVar
ANK1_chr8_41648225_41802622	41703450	A A	ATATATAT others(19): Show ATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0125 a0001c0001t0002g0125	1	278	0.0036	26	c.229 others(43): Show c.2295+590_2295+591insAATATATATATATATATATATATATA	ANK1	ENSG00000029534.22	transcript	ENST00000289734.13	protein_coding	20/42			chr8	TogoVar
ANK1_chr8_41648225_41802622	41703450	A A	ATATATAT others(19): Show ATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0021 a0002c0007t0021	a0002c0007t0021g0118 a0002c0007t0021g0118	1	278	0.0036	26	c.229 others(43): Show c.2295+590_2295+591insAAAAAAAAAATATATATATATATATA	ANK1	ENSG00000029534.22	transcript	ENST00000289734.13	protein_coding	20/42			chr8	TogoVar
ANK1_chr8_41648225_41802622	41703450	A A	ATATATAT others(19): Show ATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0005 a0001c0012t0005	a0001c0012t0005g0103 a0001c0012t0005g0103	1	278	0.0036	26	c.229 others(43): Show c.2295+590_2295+591insAAAAAAAAAAAATATATATATATATA	ANK1	ENSG00000029534.22	transcript	ENST00000289734.13	protein_coding	20/42			chr8	TogoVar
ANK1_chr8_41648225_41802622	41703450	A A	ATATATAT others(19): Show ATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0007 a0002c0007t0007	a0002c0007t0007g0021 a0002c0007t0007g0021	1	278	0.0036	26	c.229 others(43): Show c.2295+590_2295+591insAAAAAAAAAAAAAAAATATATATATA	ANK1	ENSG00000029534.22	transcript	ENST00000289734.13	protein_coding	20/42			chr8	TogoVar
ANK2_chr4_113044653_113388736	113149874	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02129.hp1 NA18966.hp1 NA18981.hp2 others(1): Show HG02129.hp1 NA18966.hp1 NA18981.hp2 NA19086.hp2	a0001 a0002 a0013 a0001 a0002 a0013	a0001c0001 a0002c0003 a0013c0015 a0001c0001 a0002c0003 a0013c0015	a0001c0001t0001 a0002c0003t0001 a0013c0015t0001 a0001c0001t0001 a0002c0003t0001 a0013c0015t0001	a0001c0001t0001g0040 a0002c0003t0001g0080 a0002c0003t0001g0152 others(1): Show a0001c0001t0001g0040 a0002c0003t0001g0080 a0002c0003t0001g0152 a0013c0015t0001g0118	4	178	0.0225	26	c.85- others(43): Show c.85-24541_85-24516dupAAAAAAAAAAAAAAAAAAAAAAAAAA	ANK2	ENSG00000145362.21	transcript	ENST00000357077.9	protein_coding	1/45		INFO_REALIGN_3_PRIME	chr4	TogoVar
ANK3_chr10_60021298_60394875	60100234	G G	GTTTTTTT others(19): Show GTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0002 a0003c0006t0002	a0003c0006t0002g0157 a0003c0006t0002g0157	1	192	0.0052	26	c.332 others(45): Show c.3328+5670_3328+5671insAAAAAAAAAAAAAAAAAAAAAAAAAA	ANK3	ENSG00000151150.22	transcript	ENST00000280772.7	protein_coding	28/43			chr10	TogoVar
ANKAR_chr2_189669670_189751647	189729695	C C	CGTGTGTG others(19): Show CGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01261.hp2 HG01192.hp1 HG01261.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0001 a0004c0006t0001 a0001c0001t0001 a0004c0006t0001	a0001c0001t0001g0130 a0004c0006t0001g0296 a0001c0001t0001g0130 a0004c0006t0001g0296	2	296	0.0068	26	c.319 others(43): Show c.3194-779_3194-778insTGTGTGTGTGTGTGTGTGTGTGTGTG	ANKAR	ENSG00000151687.15	transcript	ENST00000684021.1	protein_coding	15/22		INFO_REALIGN_3_PRIME	chr2	TogoVar

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