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
UGT1A5_chr2_233707907_233778300	233725219	G G	GGGAGAGG others(200): Show GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0299 a0001c0001t0002g0299	1	330	0.0030	207	c.867 others(226): Show c.867+11362_867+11363insGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG	UGT1A5	ENSG00000288705.1	transcript	ENST00000373414.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A6_chr2_233687890_233778300	233725219	G G	GGGAGAGG others(200): Show GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0269 a0001c0001t0002g0269	1	332	0.0030	207	c.861 others(226): Show c.861+31355_861+31356insGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG	UGT1A6	ENSG00000167165.19	transcript	ENST00000305139.11	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A7_chr2_233676901_233778300	233725219	G G	GGGAGAGG others(200): Show GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0292 a0001c0001t0002g0292	1	320	0.0031	207	c.856 others(226): Show c.856-41814_856-41813insGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG	UGT1A7	ENSG00000244122.3	transcript	ENST00000373426.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A8_chr2_233612633_233778300	233725219	G G	GGGAGAGG others(200): Show GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0245 a0001c0001t0002g0245	1	290	0.0035	207	c.856 others(226): Show c.856-41814_856-41813insGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG	UGT1A8	ENSG00000242366.4	transcript	ENST00000373450.5	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A9_chr2_233666898_233778300	233725219	G G	GGGAGAGG others(200): Show GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0167 a0001c0001t0002g0167	1	318	0.0031	207	c.856 others(226): Show c.856-41814_856-41813insGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG	UGT1A9	ENSG00000241119.2	transcript	ENST00000354728.5	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
VCX3A_chrX_6528618_6540118	6533146	A A	ACACCTCC others(200): Show ACACCTCCTCTTCCTCCCTCCCTCCCCACACACCTCCTCTTCCCCCCTCC CTCCCCACACACCACCTCTTCCTCCCTCCCTCCCCACACACCACCCTCTT CCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCCACACAC CACCTCTTCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCC CCACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0015 a0015	a0015c0016 a0015c0016	a0015c0016t0003 a0015c0016t0003	a0015c0016t0003g0030 a0015c0016t0003g0030	1	74	0.0135	207	c.59 others(216): Show c.598_*599insGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTG GGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGT GGTGTGTGGGGAGGGAGGGAGGAAGAGGGTGGTGTGTGGGGAGGGAGGGA GGAAGAGGTGGTGTGTGGGGAGGGAGGGGGGAAGAGGAGGTGTGTGGGGA GGGAGGGAGGAAGAGGAGGTG	VCX3A	ENSG00000169059.13	transcript	ENST00000381089.7	protein_coding		471		chrX	TogoVar
VCX3B_chrX_8459830_8471510	8467096	G G	GGGGAGGG others(200): Show GGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAA GAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGG GAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGG GAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTG TGTGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0006 a0006	a0006c0043 a0006c0043	a0006c0043t0002 a0006c0043t0002	a0006c0043t0002g0006 a0006c0043t0002g0006	1	271	0.0037	207	c.71 others(216): Show c.713_*714insGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGG AGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGG GGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGA GGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAG GGAGGAAGAGGTGTGTGGGGA	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		587		chrX	TogoVar
VCX3B_chrX_8459830_8471510	8467180	T T	TGTGGGGA others(200): Show TGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAG AGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAG GGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGT GTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGG AAGAGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0006 a0002c0002t0002g0006	1	271	0.0037	207	c.79 others(216): Show c.797_*798insGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGA GGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTG TGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAG GAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGG GGAGGGAGGGAGGAAGAGGAG	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		671		chrX	TogoVar
VIPR2_chr7_159023175_159149867	159104547	T T	TGCCCTCC others(200): Show TGCCCTCCCTCCTCCCAGCCAGGCCCTCACCACCGATGGTGACCGGGTAC CCCACCTGCTCCAGTTCCTGGCAGCACTCTCCCTCCTCCCGACAGCACCC TCCCTCCTCCTGGCCAGCACCCTTGCCACTGATGGTGACCAGGTGCCCAG TCCAGTTCCTGACAGCACCCTACCTCCTCCTGGCAGCACCCTCCCTCCTC CCAGCAAC	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18969.hp2 NA18975.hp1 NA18959.hp2 NA18969.hp2 NA18975.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0205 a0001c0004t0004g0206 a0001c0004t0004g0207 a0001c0004t0004g0205 a0001c0004t0004g0206 a0001c0004t0004g0207	3	336	0.0089	207	c.260 others(222): Show c.260-694_260-693insGTTGCTGGGAGGAGGGAGGGTGCTGCCAGG AGGAGGTAGGGTGCTGTCAGGAACTGGACTGGGCACCTGGTCACCATCAG TGGCAAGGGTGCTGGCCAGGAGGAGGGAGGGTGCTGTCGGGAGGAGGGAG AGTGCTGCCAGGAACTGGAGCAGGTGGGGTACCCGGTCACCATCGGTGGT GAGGGCCTGGCTGGGAGGAGGGAGGGC	VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding	3/12			chr7	TogoVar
VPS8_chr3_184807166_185057604	184895590	T T	TCCTCCTC others(200): Show TCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCCTCCTCCTCCCCCCCTCCT CCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCC TCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCC CCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCT CCTCCCCC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0248 a0002c0002t0001g0248	1	274	0.0037	207	c.200 others(224): Show c.2004+695_2004+696insCTCCTCCTCCCCCCCTCCTCCTCCCCCC CTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCC CCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTC CTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCC CTCCTCCTCCCCCCCTCCTCCTCCCCCCC	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	23/47		INFO_REALIGN_3_PRIME	chr3	TogoVar
VPS8_chr3_184807166_185057604	184895600	C C	CCCCCCCC others(200): Show CCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCC TCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCC CCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCCTCCTCCTCCCCCCTCCTC CTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCCTCCTCCTCCCCCC CTCCTCCT	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0241 a0004c0003t0001g0241	1	274	0.0037	207	c.200 others(224): Show c.2004+681_2004+682insCTCCTCCTCCCCCCCTCCTCCTCCCCCC CTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTC CCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCCTCC TCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCC CCTCCTCCTCCCCCCCTCCTCCTCCCCCC	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	23/47		INFO_REALIGN_3_PRIME	chr3	TogoVar
VPS8_chr3_184807166_185057604	184895600	C C	CCCCCCCT others(200): Show CCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCT CCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCC CCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTC CTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCC CTCCTCCT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0203 a0002c0002t0001g0203	1	274	0.0037	207	c.200 others(224): Show c.2004+709_2004+710insTCCTCCTCCCCCCCTCCTCCTCCCCCCC TCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCCTCCTCCTCC CCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCT CCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCC CTCCTCCTCCCCCCCTCCTCCTCCCCCCC	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	23/47		INFO_REALIGN_3_PRIME	chr3	TogoVar
VRK2_chr2_58041806_58164871	58137182	C C	CATATATG others(200): Show CATATATGATACATATATCATATATATCATATATGATACATATATCATAT ATATCATATATGATACATATATCATATATATCATATATGATACATATATC ATATATATGATACATGTATCATATATGATACATATATATCATATATATGA TACATATGTATCATATATATGATACATATGTATCATATATATGATACATA TGTATCAT	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG02293.hp2 NA18945.hp2 others(1): Show HG01975.hp2 HG02293.hp2 NA18945.hp2 NA19066.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0041 a0002c0002t0002g0068 a0002c0002t0002g0072 others(1): Show a0002c0002t0002g0041 a0002c0002t0002g0068 a0002c0002t0002g0072 a0002c0002t0002g0074	4	340	0.0118	207	c.856 others(224): Show c.856+2000_856+2001insCATATATATCATATATGATACATATATC ATATATATCATATATGATACATATATCATATATATCATATATGATACATA TATCATATATATGATACATGTATCATATATGATACATATATATCATATAT ATGATACATATGTATCATATATATGATACATATGTATCATATATATGATA CATATGTATCATATATATGATACATATAT	VRK2	ENSG00000028116.18	transcript	ENST00000340157.9	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
VRK2_chr2_58041806_58164871	58137182	C C	CATATATG others(200): Show CATATATGATACATATATCATATATATCATATATGATACATATATCATAT ATATCATATATGATACATATATCATATATATCATATATGATACATGTATC ATATATATGATACATGTATCATATATGATACATATATATCATATATATGA TACATATGTATCATATATATGATACATATGTATCATATATATGATACATA TGTATCAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0069 a0002c0002t0002g0069	1	340	0.0029	207	c.856 others(224): Show c.856+2000_856+2001insCATATATATCATATATGATACATATATC ATATATATCATATATGATACATATATCATATATATCATATATGATACATG TATCATATATATGATACATGTATCATATATGATACATATATATCATATAT ATGATACATATGTATCATATATATGATACATATGTATCATATATATGATA CATATGTATCATATATATGATACATATAT	VRK2	ENSG00000028116.18	transcript	ENST00000340157.9	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
VRK2_chr2_58041806_58164871	58137182	C C	CATATATG others(200): Show CATATATGATACATATATCATATATATCATATATGATACATATATCATAT ATATCATATATGATACATGTATCATATATATCATATATGATACATGTATC ATATATATGATACATGTATCATATATGATACATATATATCATATATATGA TACATATGTATCATATATATGATACATATGTATCATATATATGATACATA TGTATCAT	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0108 a0002c0002t0002g0108	1	340	0.0029	207	c.856 others(224): Show c.856+2000_856+2001insCATATATATCATATATGATACATATATC ATATATATCATATATGATACATGTATCATATATATCATATATGATACATG TATCATATATATGATACATGTATCATATATGATACATATATATCATATAT ATGATACATATGTATCATATATATGATACATATGTATCATATATATGATA CATATGTATCATATATATGATACATATAT	VRK2	ENSG00000028116.18	transcript	ENST00000340157.9	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
WDR7_chr18_56646359_57034792	57024511	G G	GATTTCAC others(200): Show GATTTCACATATCCCTATTCTCAGGCAGGAATAGGGATATGTGAGCTATG ATAGTTATGTCCCTTACAGGATTTCACATATCCCTATTCTCAGACAGGAA TAGGGATATGTGAGCTATGATAGTTATGTCCCTTACAGGATTTCACATAT CCCTATTCTCAGGCAGGAATAGGGATATGTGAACTATGATAGTTATGTCC CTTATAGA	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0018 a0001c0002t0018	a0001c0002t0018g0060 a0001c0002t0018g0060	1	144	0.0069	207	c.427 others(226): Show c.4270-2470_4270-2469insGCAGGAATAGGGATATGTGAGCTATG ATAGTTATGTCCCTTACAGGATTTCACATATCCCTATTCTCAGACAGGAA TAGGGATATGTGAGCTATGATAGTTATGTCCCTTACAGGATTTCACATAT CCCTATTCTCAGGCAGGAATAGGGATATGTGAACTATGATAGTTATGTCC CTTATAGAATTTCACATATCCCTATTCTCAG	WDR7	ENSG00000091157.15	transcript	ENST00000254442.8	protein_coding	27/27		INFO_REALIGN_3_PRIME	chr18	TogoVar
WDR7_chr18_56646359_57034792	57024535	A A	ACAGGAAT others(200): Show ACAGGAATAGGGATATGTGAGCTATGATAGTTATGTCCCTTACAGGATTT CACATATCCCTATTCTCAGGCAGGAATAGGGATATGTGAACTATGGTAGT TATGTCCCTTACAGGATTTCACATATCCCTATTCTCAGACAGGAATAGGG ATATGTGAGCTATGATAGTTATGTCCCTTATAGAATTTCACATATCCCTA TTCTCAGG	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0135 a0001c0004t0007g0135	1	144	0.0069	207	c.427 others(226): Show c.4270-2428_4270-2427insCAGGATTTCACATATCCCTATTCTCA GGCAGGAATAGGGATATGTGAACTATGGTAGTTATGTCCCTTACAGGATT TCACATATCCCTATTCTCAGACAGGAATAGGGATATGTGAGCTATGATAG TTATGTCCCTTATAGAATTTCACATATCCCTATTCTCAGGCAGGAATAGG GATATGTGAGCTATGATAGTTATGTCCCTTA	WDR7	ENSG00000091157.15	transcript	ENST00000254442.8	protein_coding	27/27		INFO_REALIGN_3_PRIME	chr18	TogoVar
WDR7_chr18_56646359_57034792	57024580	A A	AATTTCAC others(200): Show AATTTCACATATCCCTATTCTCAGACAGGAATAGGGATATGTGAACTATG ATAGTTATGTCCCTTACAGGATTTCACATATCCCTATTCTCAGACAGGAA TAGGGATATGTGAGCTATGATAGTTATGTCCCTTATAGAATTTCACATAT CCCTATTCTCAGACAGGAATAGGGATATGTGAACTATGGTAGTTATGTCC CTTACAGG	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0144 a0001c0001t0016g0144	1	144	0.0069	207	c.427 others(226): Show c.4270-2401_4270-2400insACAGGAATAGGGATATGTGAACTATG ATAGTTATGTCCCTTACAGGATTTCACATATCCCTATTCTCAGACAGGAA TAGGGATATGTGAGCTATGATAGTTATGTCCCTTATAGAATTTCACATAT CCCTATTCTCAGACAGGAATAGGGATATGTGAACTATGGTAGTTATGTCC CTTACAGGATTTCACATATCCCTATTCTCAG	WDR7	ENSG00000091157.15	transcript	ENST00000254442.8	protein_coding	27/27		INFO_REALIGN_3_PRIME	chr18	TogoVar
WDR87_chr19_37879823_37911594	37881047	A A	ATATATAA others(200): Show ATATATAATATATATATTATATATATATATATTATATATATATATAATAT ATATATTATATATATATATATTATATATATATAATATATATTATATATAT ATTATATATATATAATATATATATATTATATATATATAATATATATATTA TATATATATAATATATATATATATTATATATATAATATATATATAATATA TATATAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0046 a0001c0001t0002g0046	1	330	0.0030	207	c.38 others(218): Show c.3884_*3885insATTATATATATATTATATATATATTATATATATA ATATATATATATATTATATATATATAATATATATATTATATATATATAAT ATATATATATTATATATATATAATATATATATAATATATATTATATATAT ATAATATATATATATATAATATATATATTATATATATATATAATATATAT ATATATAATATATATATTATATA	WDR87	ENSG00000171804.11	transcript	ENST00000447313.7	protein_coding		3775		chr19	TogoVar
WDR87_chr19_37879823_37911594	37881138	T T	TAATATAT others(200): Show TAATATATATATAATATATATATTATATATATATAATATATATATTATAT ATATATAATATATATATATTATATATATTATATATATATAATATATATAT AATATATATATAATATATATATAATATATATATTATATATATATTATATA TATAATATATATATATTTTATATATATATTATATATATATATATATAGAG AGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0027 a0001c0001t0002g0027	1	330	0.0030	207	c.37 others(218): Show c.3793_*3794insCTCTCTCTCTCTATATATATATATATATAATATA TATATAAAATATATATATATTATATATATAATATATATATAATATATATA TTATATATATATTATATATATATTATATATATATTATATATATATAATAT ATATAATATATATATATTATATATATATAATATATATATTATATATATAT AATATATATATTATATATATATT	WDR87	ENSG00000171804.11	transcript	ENST00000447313.7	protein_coding		3684		chr19	TogoVar
XRCC2_chr7_152639776_152681141	152674705	T T	TATATATA others(200): Show TATATATATTTTAAAATATATTTATATATTTTTAAATATATATTATATAT ATTTTTAAATATATATTATATATAATATATATTTTAAAATATATTATATA AATATATTTTAAAATATGTATTATATATAAATATATTTTTAAATATATAT TATATATAAATATATTTTTAAATATATTTATATATAATATATATTTAAAT ATATATTA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0052 a0001c0001t0011g0052	1	394	0.0025	207	c.39+ others(222): Show c.39+1335_39+1336insTAATATATATTTAAATATATATTATATATA AATATATTTAAAAATATATTTATATATAATATATATTTAAAAATATATTT ATATATAATACATATTTTAAAATATATTTATATAATATATTTTAAAATAT ATATTATATATAATATATATTTAAAAATATATATAATATATATTTAAAAA TATATAAATATATTTTAAAATATATAT	XRCC2	ENSG00000196584.4	transcript	ENST00000359321.2	protein_coding	1/2			chr7	TogoVar
ZFP42_chr4_187990771_188010046	187992000	G G	GGGGAGAG others(200): Show GGGGAGAGGGAGACCGTGGGGAGAGGGAGAGGGAGAGGGAGACCGTGGGG AGAGGGAGAGGGAGACCGTGGGGAGAGGGAGACCGTGGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGACCGTGGGGAGAGGGAGAGTGGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGACCG TGGGGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0014 a0001c0001t0006g0014	1	448	0.0022	207	c.-41 others(218): Show c.-4179_-4178insGGGAGAGGGAGACCGTGGGGAGAGGGAGAGGGAG AGGGAGACCGTGGGGAGAGGGAGAGGGAGACCGTGGGGAGAGGGAGACCG TGGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGACCGTGGGGAGAG GGAGAGTGGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGACCGTGGGGAGA	ZFP42	ENSG00000179059.10	transcript	ENST00000326866.5	protein_coding		3770		chr4	TogoVar
ZNF253_chr19_19860882_19899674	19891007	A A	ATTTTTTT others(200): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCG ATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGC CTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGC TAATTTTT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0022 a0001c0001t0003g0022	1	370	0.0027	207	c.227 others(222): Show c.227-461_227-460insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA GTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCAC GCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGC TACCACGCCCGGCTAATTTTTTTTTTT	ZNF253	ENSG00000256771.5	transcript	ENST00000589717.2	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
ABCA8_chr17_68862289_68960392	68958591	A A	ATATAATT others(201): Show ATATAATTATATATAATATATAATATAATTATATATAATATATAATATAA TTATATATAATATATAATATAATTATATATAATATATAATATAATTATAT ATAATATATAATATATAATATAATTATATATAATATATAATATATAATAT AATTATATAAAATATATAATATATTATATAATTATATATTATATATATTA TTTATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp2 HG02615.hp1 HG04204.hp2 others(9): Show HG02135.hp2 HG02615.hp1 HG04204.hp2 NA18960.hp1 NA18965.hp1 NA18965.hp2 NA18973.hp2 NA18991.hp2 NA19056.hp1 NA19070.hp1 NA19088.hp1 NA20905.hp2	a0001 a0003 a0021 others(1): Show a0001 a0003 a0021 a0027	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0003c0007 a0021c0036 a0027c0037	a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 a0003c0007t0001 a0021c0036t0001 a0027c0037t0001	a0001c0001t0001g0160 a0001c0001t0001g0198 a0001c0001t0001g0200 others(9): Show a0001c0001t0001g0160 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0205 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0230 a0001c0002t0001g0220 a0001c0004t0001g0246 a0003c0007t0001g0163 a0021c0036t0001g0158 a0027c0037t0001g0159	12	274	0.0438	208	c.-35 others(219): Show c.-3540_-3539insATATATAAATAATATATATAATATATAATTATAT AATATATTATATATTTTATATAATTATATTATATATTATATATTATATAT AATTATATTATATATTATATATTATATATAATTATATTATATATTATATA TAATTATATTATATATTATATATAATTATATTATATATTATATATAATTA TATTATATATTATATATAATTATA	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding		3200		chr17	TogoVar
ABCA8_chr17_68862289_68960392	68958591	A A	ATATAATT others(201): Show ATATAATTATATATAATATATAATATAATTATATATAATATATAATATAA TTATATATGATATATAATATAATTATATATGATATATAATATAATTATAT ATAATATATAATATATAATATAATTATATATAATATATAATATATAATAT AATTATATAAAATATATAATATATTATATAATTATATATTATATATATTA TTTATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18978.hp1 NA19004.hp2 NA18978.hp1 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0236 a0001c0001t0001g0197 a0001c0001t0001g0236	2	274	0.0073	208	c.-35 others(219): Show c.-3540_-3539insATATATAAATAATATATATAATATATAATTATAT AATATATTATATATTTTATATAATTATATTATATATTATATATTATATAT AATTATATTATATATTATATATTATATATAATTATATTATATATCATATA TAATTATATTATATATCATATATAATTATATTATATATTATATATAATTA TATTATATATTATATATAATTATA	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding		3200		chr17	TogoVar
ABCA8_chr17_68862289_68960392	68958591	A A	ATATAATT others(201): Show ATATAATTATATATTATATATAATATAATTATATATAATATATAATATAA TTATATATAATATATAATATAATTATATATAATATATAATATAATTATAT ATAATATATAATATATAATATAATTATATATAATATATAATATATAATAT AATTATATAAAATATATAATATATTATATAATTATATATTATATATATTA TTTATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0016 a0016	a0016c0018 a0016c0018	a0016c0018t0001 a0016c0018t0001	a0016c0018t0001g0235 a0016c0018t0001g0235	1	274	0.0037	208	c.-35 others(219): Show c.-3540_-3539insATATATAAATAATATATATAATATATAATTATAT AATATATTATATATTTTATATAATTATATTATATATTATATATTATATAT AATTATATTATATATTATATATTATATATAATTATATTATATATTATATA TAATTATATTATATATTATATATAATTATATTATATATTATATATAATTA TATTATATATAATATATAATTATA	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding		3200		chr17	TogoVar
ACAP3_chr1_1287391_1312930	1288793	C C	CCGTGTCT others(201): Show CCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCG TCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCCCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	295	0.0034	208	c.47 others(219): Show c.4770_*4771insACGGGGCAGAGACACGGGACGGAGCAGAGACACG GGGGACGGAGCAGAGACACGGGGGACGGGGCAGAGACACGGGGGACGGGG CAGAGACACGGGACGGAGCAGAGACACGGGGGACGGAGCAGAGACACGGG ACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGGGACGGGGCAGAGA CACGGGGGACGGGGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3597		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289395	C C	CCGTGTCT others(201): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGC CCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCT CTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	295	0.0034	208	c.41 others(219): Show c.4168_*4169insACGGAGCAGAGACACGGGGGACGGGGCAGAGACA CGGGGGACGGGGCAGAGACACGGGACGGAGCAGAGACACGGGACGGGGCA GAGACACGGGACGGAGCAGAGACACGGGGGACGGGGCAGAGACACGGGGG ACGGAGCAGAGACACGGGGGACGGGGCAGAGACACGGGGGACGGGGCAGA GACACGGGACGGAGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2995		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289973	T T	TCCCTGCT others(201): Show TCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGT CCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCT CCGTCCCGTGTCCCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTC TCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCC CCCGTGTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	295	0.0034	208	c.35 others(219): Show c.3590_*3591insGGACACGGGGGACGGAGCAGAGACACGGGACGGA GCAGAGACACGGGGGACGGAGCAGAGACACGGGACGGAGCAGAGACTCGG GGGACGGAGCAGGGACACGGGACGGAGCAGGGACACGGGACGGAGCAGAG ACACGGGACGGGGCAGAGACACGGGACGGGGCAGAGACACGGGGGACGGA GCAGAGACACGGGACGGAGCAGGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2417		chr1	TogoVar
ACTN4_chr19_38642649_38736589	38736017	G G	GGCGGGGG others(201): Show GGCGGGGGTTCTGGGGGCGGGGCGGGGGTTCTGGGGGCGGGGCGGGGCGG GGGTTCTGGGGGCGGGGCGGTGGTTCTGCGGGCGGGGCGGGGCGGGGGTT CTGGGGGCGGGGCGGGGCGGGGCGGGGCGGTGGTTCTGCGGGCGGGGCGG GGCGGGGCGGGGCGGGGCGGGGCGGGGCGGGGCGGGGGTTCTGGGAGCGG GGCAGGTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01168.hp1 HG01109.hp2 HG01168.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0179 a0001c0003t0003g0180 a0001c0003t0003g0179 a0001c0003t0003g0180	2	314	0.0064	208	c.65 others(219): Show c.6585_*6586insGCGGGGGTTCTGGGGGCGGGGCGGGGGTTCTGGG GGCGGGGCGGGGCGGGGGTTCTGGGGGCGGGGCGGTGGTTCTGCGGGCGG GGCGGGGCGGGGGTTCTGGGGGCGGGGCGGGGCGGGGCGGGGCGGTGGTT CTGCGGGCGGGGCGGGGCGGGGCGGGGCGGGGCGGGGCGGGGCGGGGCGG GGGTTCTGGGAGCGGGGCAGGTCA	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4429		chr19	TogoVar
ADAMTS2_chr5_179105853_179350461	179277906	C C	CCCCCCCC others(201): Show CCCCCCCCGAGACCAAAGGCTGACCCCCCCCGAGACCAACGGCTGACGCC CCCGCGAGACCAAAGGCTGACCCCCTCCGAGACCAAAGGCTGACCCCCTC CGAGACCAAAGGCTGACACCCCCGAGACCAAAGGCTGACCCCCCCGCGAG ACCAAAGGCTGACCCCCCCCGAGACCAAAGGCTGACCTCCCCGCGAGACC AAAGGCTGA	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0007 a0007	a0007c0005 a0007c0005	a0007c0005t0003 a0007c0005t0003	a0007c0005t0003g0263 a0007c0005t0003g0263	1	276	0.0036	208	c.535 others(225): Show c.535-4843_535-4842insTCAGCCTTTGGTCTCGCGGGGAGGTCAG CCTTTGGTCTCGGGGGGGGTCAGCCTTTGGTCTCGCGGGGGGGTCAGCCT TTGGTCTCGGGGGTGTCAGCCTTTGGTCTCGGAGGGGGTCAGCCTTTGGT CTCGGAGGGGGTCAGCCTTTGGTCTCGCGGGGGCGTCAGCCGTTGGTCTC GGGGGGGGTCAGCCTTTGGTCTCGGGGGGG	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21			chr5	TogoVar
ADAMTS6_chr5_65143738_65486920	65230302	A A	ATGAAATA others(201): Show ATGAAATATATATAATACATTATATATATGAAATATATATAATACATTAT ATATATGAAATATATATAATACATTATATATATGAAATATATATAATACA TTATATATATGAAATATATATAATACATTATATATATGAAATATATATAA TACATTATATATATGAAATATATATAATACATTATATATATGAAATATAT ATAATACAT	intron_variant intron_variant	MODIFIER	HG03927.hp1 NA19012.hp2 HG03927.hp1 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0151 a0001c0001t0001g0070 a0001c0001t0001g0151	2	204	0.0098	208	c.193 others(227): Show c.1934-4084_1934-4083insATGTATTATATATATTTCATATATAT AATGTATTATATATATTTCATATATATAATGTATTATATATATTTCATAT ATATAATGTATTATATATATTTCATATATATAATGTATTATATATATTTC ATATATATAATGTATTATATATATTTCATATATATAATGTATTATATATA TTTCATATATATAATGTATTATATATATTTCA	ADAMTS6	ENSG00000049192.15	transcript	ENST00000381055.8	protein_coding	15/24			chr5	TogoVar
ADGRB1_chr8_142444649_142550007	142501712	A A	ATGGTGAT others(201): Show ATGGTGATGTGGTGGTGGTGGTGATGGTGGTGGCGGTGATGGCGATGGTG GGGTGGTGGTAGTGATGACTGTGTGGTTTTGACGATGGAGGTGGGGTGGT GGTGGTGATGGTGATGTGGTGGTGGTGGTGATGGTGGTGGCGGTGATGGC GATGGTGGGGTGGTGGTAGTGATGACTGTGTGGTTTTGACGATGGAGGTG GGGTGGTGG	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02273.hp2 HG00609.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0156 a0001c0002t0002g0172 a0001c0001t0001g0156 a0001c0002t0002g0172	2	310	0.0065	208	c.267 others(227): Show c.2676-9214_2676-9213insTGTGGTGGTGGTGGTGATGGTGGTGG CGGTGATGGCGATGGTGGGGTGGTGGTAGTGATGACTGTGTGGTTTTGAC GATGGAGGTGGGGTGGTGGTGGTGATGGTGATGTGGTGGTGGTGGTGATG GTGGTGGCGGTGATGGCGATGGTGGGGTGGTGGTAGTGATGACTGTGTGG TTTTGACGATGGAGGTGGGGTGGTGGTGGTGA	ADGRB1	ENSG00000181790.13	transcript	ENST00000517894.6	protein_coding	17/30		INFO_REALIGN_3_PRIME	chr8	TogoVar
AFF2_chrX_148495617_149005663	148581082	T T	TACACATA others(201): Show TACACATATGTGTATATGTATATATACACACATATATACACATATGTGTA TATGTATATATACACATATATACACATATGTGTATATGTATATGTACACA TATATACACATATGTGTATATGTATATGTACACATATATACACATATGTG TATATGTATATGTACACACATATACACATATGTGTATATGTATATGTACA CACATATAC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0072 a0001c0002t0072	a0001c0002t0072g0018 a0001c0002t0072g0018	1	169	0.0059	208	c.48- others(225): Show c.48-70914_48-70913insCATATGTGTATATGTATATATACACACA TATATACACATATGTGTATATGTATATATACACATATATACACATATGTG TATATGTATATGTACACATATATACACATATGTGTATATGTATATGTACA CATATATACACATATGTGTATATGTATATGTACACACATATACACATATG TGTATATGTATATGTACACACATATACACA	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AFF2_chrX_148495617_149005663	148581337	T T	TACGTGTA others(201): Show TACGTGTACACACATATACACGTATACGTGTACACACATATACACGTATA CGTGTACACACATACACGTATACGTGTACACACATATACACGTATACGTG TACACACATATACACGTATACGTGTACACACATATACACGTATACGTGTA CACACATATACACGTATACGTGTACACACATATACACGTATACGTGTACA CACATATAC	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0006 a0001c0001t0043g0006	1	169	0.0059	208	c.48- others(225): Show c.48-70658_48-70657insGTACACACATATACACGTATACGTGTAC ACACATATACACGTATACGTGTACACACATACACGTATACGTGTACACAC ATATACACGTATACGTGTACACACATATACACGTATACGTGTACACACAT ATACACGTATACGTGTACACACATATACACGTATACGTGTACACACATAT ACACGTATACGTGTACACACATATACACGT	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AK3_chr9_4704556_4746202	4735372	A A	AATATATA others(201): Show AATATATATACATATATAAATATATATATACATATATAAATATATATACA TATATAAATATATATACATATATAAATATATATACATATATAAATATATA TATACATATATAAATATATATACATATATAAATATATATATACATATATA AATATATATACATATATAAATATATATACATATATAAATATATATATACA TATATAAAT	intron_variant intron_variant	MODIFIER	HG02698.hp1 NA18955.hp2 NA18983.hp2 others(2): Show HG02698.hp1 NA18955.hp2 NA18983.hp2 NA19058.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0025 a0001c0001t0049 a0001c0001t0002 a0001c0001t0025 a0001c0001t0049	a0001c0001t0002g0147 a0001c0001t0002g0306 a0001c0001t0002g0381 others(2): Show a0001c0001t0002g0147 a0001c0001t0002g0306 a0001c0001t0002g0381 a0001c0001t0025g0130 a0001c0001t0049g0137	5	462	0.0108	208	c.151 others(225): Show c.151+5564_151+5565insATTTATATATGTATATATATATTTATAT ATGTATATATATTTATATATGTATATATATTTATATATGTATATATATAT TTATATATGTATATATATTTATATATGTATATATATATTTATATATGTAT ATATATTTATATATGTATATATATTTATATATGTATATATATTTATATAT GTATATATATATTTATATATGTATATATAT	AK3	ENSG00000147853.17	transcript	ENST00000381809.8	protein_coding	1/4			chr9	TogoVar
AK3_chr9_4704556_4746202	4735390	A A	AATATATA others(201): Show AATATATATATACATATATAAATATATATACATATATAAATATATATACA TATATAAATATATATACATATATAAATATATATACATATATAAATATATA TACATATATAAATATATATACATATATAAATATATATACATATATAAATA TATATATACATATATAAATATATATATACATATATAAATATATATATACA TATATAAAT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0040 a0001c0001t0004g0040	1	462	0.0022	208	c.151 others(225): Show c.151+5546_151+5547insATTTATATATGTATATATATATTTATAT ATGTATATATATATTTATATATGTATATATATATTTATATATGTATATAT ATTTATATATGTATATATATTTATATATGTATATATATTTATATATGTAT ATATATTTATATATGTATATATATTTATATATGTATATATATTTATATAT GTATATATATTTATATATGTATATATATAT	AK3	ENSG00000147853.17	transcript	ENST00000381809.8	protein_coding	1/4			chr9	TogoVar
AMFR_chr16_56356452_56430545	56406060	G G	GGGGGAGA others(201): Show GGGGGAGAGGGGGAGAGGGGGGAGAGGGGAGAGGGGGAGAGGGGGGAGGG GGGGAGAGGGGGGAGAGGGGGGAGAGGGGGGAGAGGGGGAAGGGGGAGGG GAGGGGGGAGAGGGGGAAGGGGGGAGGGGAGGGGGGAGAGGGGGGAGGAG AGGGGGGAGGGGAGGGGGAGAGGGGGGAGGGGAGAGAGAAGGGAGGGGGG GAGGGGAGA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02818.hp2 HG03209.hp2 others(1): Show HG02717.hp1 HG02818.hp2 HG03209.hp2 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0322 a0001c0002t0012g0325 a0001c0002t0012g0327 others(1): Show a0001c0002t0012g0322 a0001c0002t0012g0325 a0001c0002t0012g0327 a0001c0002t0012g0329	4	356	0.0112	208	c.667 others(223): Show c.667-817_667-816insTCTCCCCTCCCCCCCTCCCTTCTCTCTCCC CTCCCCCCTCTCCCCCTCCCCTCCCCCCTCTCCTCCCCCCTCTCCCCCCT CCCCTCCCCCCTTCCCCCTCTCCCCCCTCCCCTCCCCCTTCCCCCTCTCC CCCCTCTCCCCCCTCTCCCCCCTCTCCCCCCCTCCCCCCTCTCCCCCTCT CCCCTCTCCCCCCTCTCCCCCTCTCCCC	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	4/13			chr16	TogoVar
AMFR_chr16_56356452_56430545	56406060	G G	GGGGGAGA others(201): Show GGGGGAGAGGGGGAGAGGGGGGAGAGGGGAGAGGGGGAGAGGGGGGAGGG GGGGAGAGGGGGGAGAGGGGGGAGAGGGGGGAGAGGGGGAAGGGGGAGGG GAGGGGGGGAAGGGGGAAGGGGGGAGGGGAGGGGGGAGAGGGGGGAGGAG AGGGGGGAGGGGAGGGGGAGAGGGGGGAGGGGAGAGAGAAGGGAGGGGGG GAGGGGAGA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0324 a0001c0002t0012g0324	1	356	0.0028	208	c.667 others(223): Show c.667-817_667-816insTCTCCCCTCCCCCCCTCCCTTCTCTCTCCC CTCCCCCCTCTCCCCCTCCCCTCCCCCCTCTCCTCCCCCCTCTCCCCCCT CCCCTCCCCCCTTCCCCCTTCCCCCCCTCCCCTCCCCCTTCCCCCTCTCC CCCCTCTCCCCCCTCTCCCCCCTCTCCCCCCCTCCCCCCTCTCCCCCTCT CCCCTCTCCCCCCTCTCCCCCTCTCCCC	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	4/13			chr16	TogoVar
ANAPC2_chr9_137169784_137193560	137176089	T T	TTGGAAAT others(201): Show TTGGAAATGTGGCCATATTTGCAAACAGGGTTGATGCAGATGTAACTGAG GTGTGGAAATGTGGCCATATTTGCAAACAGGGTTGATGCAGATGTAACTG AGGTGTGGAAATGTGGCCATATTTGCAAACAGGGTTGATGCAGATGTAAC TGAGGTGTGGAAATGTGGCCATATTTGCAAACAGGGTTGATGCAGATGTA ACTGAGGTG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02280.hp2 HG02145.hp2 HG02280.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0014 a0001c0002 a0003c0014	a0001c0002t0001 a0003c0014t0001 a0001c0002t0001 a0003c0014t0001	a0001c0002t0001g0168 a0003c0014t0001g0162 a0001c0002t0001g0168 a0003c0014t0001g0162	2	416	0.0048	208	c.189 others(225): Show c.1891-253_1891-252insCACCTCAGTTACATCTGCATCAACCCTG TTTGCAAATATGGCCACATTTCCACACCTCAGTTACATCTGCATCAACCC TGTTTGCAAATATGGCCACATTTCCACACCTCAGTTACATCTGCATCAAC CCTGTTTGCAAATATGGCCACATTTCCACACCTCAGTTACATCTGCATCA ACCCTGTTTGCAAATATGGCCACATTTCCA	ANAPC2	ENSG00000176248.9	transcript	ENST00000323927.3	protein_coding	10/12			chr9	TogoVar
APOH_chr17_66207033_66234415	66221417	A A	AAGGAAGG others(201): Show AAGGAAGGGAGGAAGGAAGGAAAGGAAGGAAGGAAGGAAGGAAGGGAGGA AGGAAGGAAGGAAGGAAAGGAAGGAAGGAAGGAAGGGAGGAAGGAAGGAA AGGAAGGAAGGAAGGAAGGAAGGGAGGAAGGAAGGAAGGAAGGAAAGGAA GGAAGGAAGGAAGGAAGGGAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGGAGGG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00544.hp1 HG01081.hp2 others(14): Show HG00323.hp1 HG00544.hp1 HG01081.hp2 HG01123.hp2 HG01167.hp1 HG01516.hp1 HG01891.hp1 HG02630.hp1 HG02717.hp2 HG02738.hp1 HG02922.hp1 HG02970.hp1 HG03225.hp1 HG03453.hp2 NA18960.hp1 NA19070.hp1 NA20805.hp2	a0003 a0004 a0003 a0004	a0003c0003 a0004c0004 a0003c0003 a0004c0004	a0003c0003t0003 a0004c0004t0003 a0003c0003t0003 a0004c0004t0003	a0003c0003t0003g0007 a0003c0003t0003g0008 a0003c0003t0003g0037 others(8): Show a0003c0003t0003g0007 a0003c0003t0003g0008 a0003c0003t0003g0037 a0003c0003t0003g0040 a0003c0003t0003g0043 a0004c0004t0003g0002 a0004c0004t0003g0009 a0004c0004t0003g0030 a0004c0004t0003g0031 a0004c0004t0003g0041 a0004c0004t0003g0044	17	386	0.0440	208	c.416 others(223): Show c.416-676_416-675insCCCTCCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTCCCTTCCTTCCTTCCTTCCTTCCTTTCCTTCCTTCCTTCC TTCCTCCCTTCCTTCCTTCCTTCCTTCCTTTCCTTCCTTCCTCCCTTCCT TCCTTCCTTCCTTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTTCCTT CCTTCCTTTCCTTCCTTCCTCCCTTCCT	APOH	ENSG00000091583.11	transcript	ENST00000205948.11	protein_coding	4/7			chr17	TogoVar
AQP12B_chr2_240671418_240687885	240675100	T T	TGTGTGTG others(201): Show TGTGTGTGTGAAGGGGCTTTCTGGTGGGGAGGAGGGTGTGTGTGTGAAGG GGCAGCTTCGGGGAGGAGGGTGTGTGTGTGAAGGGGCTTTCTGGTGGGGA GGAGGGTGTGTGTGTGAAGGGGCAGCTTCGGGGAGGAGGGTGTGTGTGTG AAGGGGCTTTCTGGCGGGGAGGAGGGTGTGTGTGTGAAGGGGCAGCTTCG GGGAGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0001 a0009c0012t0001	a0009c0012t0001g0049 a0009c0012t0001g0049	1	179	0.0056	208	c.14 others(219): Show c.1444_*1445insCCTCCTCCCCGAAGCTGCCCCTTCACACACACAC CCTCCTCCCCGCCAGAAAGCCCCTTCACACACACACCCTCCTCCCCGAAG CTGCCCCTTCACACACACACCCTCCTCCCCACCAGAAAGCCCCTTCACAC ACACACCCTCCTCCCCGAAGCTGCCCCTTCACACACACACCCTCCTCCCC ACCAGAAAGCCCCTTCACACACAC	AQP12B	ENSG00000185176.13	transcript	ENST00000407834.4	protein_coding		1317		chr2	TogoVar
ARHGEF10_chr8_1818926_1963641	1825105	C C	CCCCCTGC others(201): Show CCCCCTGCACCCCACCTGTTCACCTGCACCCCACCTGTCCCTCCGCACCC CACCTGTCCCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCCCC CGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCACACCCCACCT GTTCACCCGCACTCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCAC CCCACCTGT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0004 a0004	a0004c0064 a0004c0064	a0004c0064t0071 a0004c0064t0071	a0004c0064t0071g0189 a0004c0064t0071g0189	1	363	0.0028	208	c.-48 others(223): Show c.-48+996_-48+997insTGCACCCCACCTGTTCACCTGCACCCCACC TGTCCCTCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCTCGCA CCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCC CCCCACACCCCACCTGTTCACCCGCACTCCACCTGTCCCCCCGCACCCCA CCTGTCCCCCCGCACCCCACCTGTCCCC	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1839808	T T	TGTGTGGG others(201): Show TGTGTGGGGACTGTCTGGTGTGGGGACTGTCTGGTGTGGGGACTGTCTGG TGTGGGGACTGTATGGTGTGGGGACTGTATGGTGTGGGGACTGTCTAGTG TGGGGACTGTCCGCTGTGGAAGCTGTCTGGTGTGGAAGCTGTCTGGTGTG GGCGCTGTCTGGTGTGGGCACTGTCTGGTGTGGGGACTGTCCGGTGTGGG GACTGTCCG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp2 HG00597.hp1 others(20): Show HG00140.hp1 HG00423.hp2 HG00597.hp1 HG01175.hp1 HG01192.hp1 HG03017.hp1 HG03834.hp2 HG03942.hp1 HG04199.hp1 NA18747.hp1 NA18939.hp2 NA18949.hp2 NA18952.hp2 NA18960.hp1 NA18962.hp2 NA18980.hp2 NA19000.hp1 NA19009.hp2 NA19058.hp1 NA19065.hp2 NA19074.hp2 NA19084.hp2 NA19088.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0003 a0001c0004 a0001c0008 others(15): Show a0001c0003 a0001c0004 a0001c0008 a0001c0009 a0001c0015 a0001c0018 a0001c0020 a0001c0021 a0001c0026 a0001c0131 a0001c0140 a0001c0143 a0002c0027 a0002c0061 a0003c0051 a0003c0136 a0006c0113 a0006c0134	a0001c0003t0001 a0001c0004t0005 a0001c0008t0002 others(16): Show a0001c0003t0001 a0001c0004t0005 a0001c0008t0002 a0001c0009t0002 a0001c0009t0005 a0001c0015t0008 a0001c0018t0008 a0001c0020t0008 a0001c0021t0005 a0001c0026t0008 a0001c0131t0005 a0001c0140t0005 a0001c0143t0001 a0002c0027t0005 a0002c0061t0025 a0003c0051t0005 a0003c0136t0008 a0006c0113t0070 a0006c0134t0005	a0001c0003t0001g0081 a0001c0003t0001g0306 a0001c0004t0005g0299 others(20): Show a0001c0003t0001g0081 a0001c0003t0001g0306 a0001c0004t0005g0299 a0001c0008t0002g0027 a0001c0009t0002g0080 a0001c0009t0005g0287 a0001c0009t0005g0326 a0001c0015t0008g0314 a0001c0018t0008g0290 a0001c0018t0008g0295 a0001c0020t0008g0291 a0001c0020t0008g0315 a0001c0021t0005g0312 a0001c0026t0008g0293 a0001c0131t0005g0301 a0001c0140t0005g0297 a0001c0143t0001g0079 a0002c0027t0005g0298 a0002c0061t0025g0292 a0003c0051t0005g0289 a0003c0136t0008g0300 a0006c0113t0070g0304 a0006c0134t0005g0316	23	363	0.0634	208	c.-47 others(225): Show c.-47-3539_-47-3538insGGACTGTCTGGTGTGGGGACTGTCTGGT GTGGGGACTGTCTGGTGTGGGGACTGTATGGTGTGGGGACTGTATGGTGT GGGGACTGTCTAGTGTGGGGACTGTCCGCTGTGGAAGCTGTCTGGTGTGG AAGCTGTCTGGTGTGGGCGCTGTCTGGTGTGGGCACTGTCTGGTGTGGGG ACTGTCCGGTGTGGGGACTGTCCGGTGTGG	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1955106	C C	CAGGTGCA others(201): Show CAGGTGCATCCTGGAAGGAGGCACACTCTCACAGTTTCTCTGGATGGGTA GCTAGGTGCTCCCTGAAAGGAGGCGCACTCTCACTGTTTGTCTGGATGGG TAGCTAGGTGCATCCTGAAAGGAGGTGCACTCTCACTGTTTCTCTGGATG GGTAGCGAGGTGCTCCCTGAAAGGAGGTGCACTCTCACTGTTTCTCTGGA TGGGTAGCT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0278 a0001c0001t0019g0278	1	363	0.0028	208	c.352 others(227): Show c.3521-1637_3521-1636insATCCTGGAAGGAGGCACACTCTCACA GTTTCTCTGGATGGGTAGCTAGGTGCTCCCTGAAAGGAGGCGCACTCTCA CTGTTTGTCTGGATGGGTAGCTAGGTGCATCCTGAAAGGAGGTGCACTCT CACTGTTTCTCTGGATGGGTAGCGAGGTGCTCCCTGAAAGGAGGTGCACT CTCACTGTTTCTCTGGATGGGTAGCTAGGTGC	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	28/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARL13B_chr3_93975155_94060678	94043558	C C	CCTCCCCC others(201): Show CCTCCCCCCTCCTCCCCCTTCCCCCTCCCTCCCCCTCCCTCCCCCTCCCC CTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCCCTCCCCCTCCCCCTCCC CCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCCCCCTCCCCC TCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCTCCCCCTCCCCCTCTCCCC CCTCCCCCT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	264	0.0038	208	c.102 others(225): Show c.1024+323_1024+324insCCCTCCTCCCCCTTCCCCCTCCCTCCCC CTCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCCC TCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCC TCCCCCCCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCTCC CCCTCCCCCTCTCCCCCCTCCCCCTCTCCC	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
ASAP1_chr8_130047104_130448674	130049992	G G	GGGGGCAG others(201): Show GGGGGCAGAGGGGGAACACATGGGGGGCAGAGGAGAACACATGGGGGCAG AGGGGAATACATGGGGGGCAGAGGAGAACACATGGGGGGCAGAGGAGAAC ACATGGGGGCAGAGGGGGAACACATGGGGGGCAGAGGAGAACACATGGGG GGCAGAGGAGAACACATGGGGGCAGAGGGGGAACACATGGGGGGCAGAGG AGAACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0190 a0001c0001t0002g0190	1	308	0.0033	208	c.47 others(219): Show c.4738_*4739insATGTGTTCTCCTCTGCCCCCCATGTGTTCCCCCT CTGCCCCCATGTGTTCTCCTCTGCCCCCCATGTGTTCTCCTCTGCCCCCC ATGTGTTCCCCCTCTGCCCCCATGTGTTCTCCTCTGCCCCCCATGTGTTC TCCTCTGCCCCCCATGTATTCCCCTCTGCCCCCATGTGTTCTCCTCTGCC CCCCATGTGTTCCCCCTCTGCCCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2111		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130050091	C C	CACATGGG others(201): Show CACATGGGGGCAGAGGGGGAACACATGGGGGGCAGAGGAGAACACATGGG GGGCAGAGGAGAACACATGGGGGCAGAGGGGGAACACATGGGGGGCAGAG GAGAACACATGGGGGCAGAGGAGAACACATGGGGGGCAGAGGGGAACACA TGGAGGGCAGAGGGGAACACATGGGGGGCAGAGGAGAACACATGGGGGCA GAGGGGAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0188 a0001c0001t0002g0188	1	308	0.0033	208	c.46 others(219): Show c.4639_*4640insATTCCCCTCTGCCCCCATGTGTTCTCCTCTGCCC CCCATGTGTTCCCCTCTGCCCTCCATGTGTTCCCCTCTGCCCCCCATGTG TTCTCCTCTGCCCCCATGTGTTCTCCTCTGCCCCCCATGTGTTCCCCCTC TGCCCCCATGTGTTCTCCTCTGCCCCCCATGTGTTCTCCTCTGCCCCCCA TGTGTTCCCCCTCTGCCCCCATGT	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2012		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130050178	T T	TGGGGGGC others(201): Show TGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGGAACACATGGGGGGC AGAGGGGAACACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAA TACATGGGGGCAGAGGGGGAACACATGGGGGGCAGAGGAGAACACATGGG GGGCAGAGGAGAACACATGGGGGCAGAGGAGAACACATGGGGGCAGAGGG GAATACATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0285 a0001c0005t0005g0285	1	308	0.0033	208	c.45 others(219): Show c.4552_*4553insCATGTATTCCCCTCTGCCCCCATGTGTTCTCCTC TGCCCCCATGTGTTCTCCTCTGCCCCCCATGTGTTCTCCTCTGCCCCCCA TGTGTTCCCCCTCTGCCCCCATGTATTCCCCTCTGCCCCCATGTGTTCTC CTCTGCCCCCCATGTGTTCCCCTCTGCCCCCCATGTGTTCCCCCTCTGCC CCCATGTGTTCTCCTCTGCCCCCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		1925		chr8	TogoVar
ATOSA_chr15_52576321_52684388	52674205	T T	TAAGACCA others(201): Show TAAGACCACATTTTACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGT AGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGA AGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGA CCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0118 a0004c0005t0001g0118	1	362	0.0028	208	c.16+ others(223): Show c.16+3800_16+3801insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGG CGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTC CTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCC CGGCTAATTTTTTGTAAAATGTGGTCTT	ATOSA	ENSG00000047346.13	transcript	ENST00000619572.5	protein_coding	2/12			chr15	TogoVar

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Search Results (Total: 10000 hits)