JoGo: Joint Open Genome and Omics Platform

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
DEPDC1B_chr5_60591912_60705166	60668256	A A	ATTTTATA others(23): Show ATTTTATATATATATATATAAAATGGATATT	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA19091.hp1 NA18985.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0269 a0001c0001t0001g0270	2	292	0.0069	30	c.314 others(49): Show c.314+18705_314+18706insAATATCCATTTTATATATATATATAT AAAA	DEPDC1B	ENSG00000035499.13	transcript	ENST00000265036.10	protein_coding	2/10			chr5	TogoVar
DEPDC5_chr22_31749019_31913033	31864501	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02896.hp2 HG02723.hp1 HG02896.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0006 a0001c0002t0003 a0001c0002t0006	a0001c0002t0003g0181 a0001c0002t0006g0173 a0001c0002t0003g0181 a0001c0002t0006g0173	2	204	0.0098	30	c.333 others(49): Show c.3330+3092_3330+3093insATATATATATATATATATATATATAT ATAT	DEPDC5	ENSG00000100150.20	transcript	ENST00000651528.2	protein_coding	33/42		INFO_REALIGN_3_PRIME	chr22	TogoVar
DEPTOR_chr8_119868722_120055918	119900380	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0003 a0001c0003t0004g0003	1	198	0.0051	30	c.122 others(49): Show c.122+26436_122+26437insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	DEPTOR	ENSG00000155792.10	transcript	ENST00000286234.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
DEPTOR_chr8_119868722_120055918	119980453	T T	TTTTTCTT others(23): Show TTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01517.hp1 HG02630.hp2 others(4): Show HG01516.hp2 HG01517.hp1 HG02630.hp2 HG02897.hp2 HG03516.hp1 HG03831.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0001 others(1): Show a0001c0002 a0001c0003 a0002c0001 a0002c0005	a0001c0002t0001 a0001c0002t0004 a0001c0003t0001 others(2): Show a0001c0002t0001 a0001c0002t0004 a0001c0003t0001 a0002c0001t0006 a0002c0005t0001	a0001c0002t0001g0104 a0001c0002t0001g0105 a0001c0002t0001g0106 others(4): Show a0001c0002t0001g0104 a0001c0002t0001g0105 a0001c0002t0001g0106 a0001c0002t0004g0075 a0001c0003t0001g0032 a0002c0001t0006g0066 a0002c0005t0001g0088	7	198	0.0354	30	c.604 others(49): Show c.604+15075_604+15104dupTTTCTTTTCTTTTCTTTTCTTTTCTT TTCT	DEPTOR	ENSG00000155792.10	transcript	ENST00000286234.6	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
DEPTOR_chr8_119868722_120055918	120002791	A A	AAAAAAAA others(23): Show AAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0118 a0003c0004t0002g0118	1	198	0.0051	30	c.791 others(45): Show c.791-185_791-184insAAAAAAAATATATATATATATATATATATA	DEPTOR	ENSG00000155792.10	transcript	ENST00000286234.6	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
DEPTOR_chr8_119868722_120055918	120002791	A A	AAAAAATA others(23): Show AAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02622.hp2 NA20300.hp2 HG02135.hp2 HG02622.hp2 NA20300.hp2	a0001 a0003 a0001 a0003	a0001c0003 a0003c0004 a0001c0003 a0003c0004	a0001c0003t0006 a0003c0004t0002 a0001c0003t0006 a0003c0004t0002	a0001c0003t0006g0132 a0003c0004t0002g0145 a0003c0004t0002g0151 a0001c0003t0006g0132 a0003c0004t0002g0145 a0003c0004t0002g0151	3	198	0.0152	30	c.791 others(45): Show c.791-185_791-184insAAAATATATATATATATATATATATATATA	DEPTOR	ENSG00000155792.10	transcript	ENST00000286234.6	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
DEPTOR_chr8_119868722_120055918	120002791	A A	AAAATATA others(23): Show AAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02630.hp1 HG03139.hp1 HG01361.hp2 HG02630.hp1 HG03139.hp1	a0001 a0003 a0001 a0003	a0001c0003 a0003c0004 a0001c0003 a0003c0004	a0001c0003t0001 a0001c0003t0003 a0003c0004t0002 a0001c0003t0001 a0001c0003t0003 a0003c0004t0002	a0001c0003t0001g0157 a0001c0003t0003g0140 a0003c0004t0002g0148 a0001c0003t0001g0157 a0001c0003t0003g0140 a0003c0004t0002g0148	3	198	0.0152	30	c.791 others(45): Show c.791-185_791-184insAATATATATATATATATATATATATATATA	DEPTOR	ENSG00000155792.10	transcript	ENST00000286234.6	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
DEPTOR_chr8_119868722_120055918	120002791	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0161 a0001c0003t0004g0161	1	198	0.0051	30	c.791 others(45): Show c.791-165_791-164insTATATATATATATATATATATATATATATA	DEPTOR	ENSG00000155792.10	transcript	ENST00000286234.6	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
DEPTOR_chr8_119868722_120055918	120021058	C C	CAAAATAA others(23): Show CAAAATAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp2 HG01258.hp2 others(27): Show HG01175.hp1 HG01175.hp2 HG01258.hp2 HG01952.hp1 HG02145.hp2 HG02257.hp1 HG02559.hp1 HG02572.hp1 HG02630.hp2 HG02723.hp1 HG02738.hp1 HG02886.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG03041.hp1 HG03098.hp1 HG03209.hp2 HG03239.hp2 HG03471.hp1 HG03491.hp2 HG03540.hp1 HG03579.hp1 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG03942.hp2 NA18612.hp1 NA19030.hp1 NA20129.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0002 a0001c0003 a0001c0012 others(4): Show a0001c0002 a0001c0003 a0001c0012 a0002c0001 a0003c0004 a0003c0008 a0005c0007	a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 others(10): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0003t0001 a0001c0003t0011 a0001c0012t0004 a0002c0001t0003 a0002c0001t0004 a0002c0001t0006 a0003c0004t0002 a0003c0008t0002 a0005c0007t0001 a0005c0007t0003	a0001c0002t0001g0051 a0001c0002t0001g0095 a0001c0002t0001g0096 others(27): Show a0001c0002t0001g0051 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0104 a0001c0002t0003g0098 a0001c0002t0003g0112 a0001c0002t0003g0113 a0001c0002t0004g0070 a0001c0003t0001g0097 a0001c0003t0001g0162 a0001c0003t0011g0084 a0001c0012t0004g0073 a0002c0001t0003g0026 a0002c0001t0003g0031 a0002c0001t0004g0137 a0002c0001t0006g0066 a0003c0004t0002g0122 a0003c0004t0002g0139 a0003c0004t0002g0150 a0003c0004t0002g0158 a0003c0004t0002g0165 a0003c0004t0002g0166 a0003c0004t0002g0169 a0003c0008t0002g0094 a0005c0007t0001g0061 a0005c0007t0003g0062	30	198	0.1515	30	c.110 others(51): Show c.1101+11927_1101+11956dupAAATAAAATAAAATAAAATAAAAT AAAATA	DEPTOR	ENSG00000155792.10	transcript	ENST00000286234.6	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
DEPTOR_chr8_119868722_120055918	120030497	G G	GTTTGTTT others(23): Show GTTTGTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0125 a0001c0003t0001g0125	1	198	0.0051	30	c.110 others(51): Show c.1102-19076_1102-19075insGTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	DEPTOR	ENSG00000155792.10	transcript	ENST00000286234.6	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
DERA_chr12_15906332_16042381	15936881	T T	TTGTCCTG others(23): Show TTGTCCTGTCCTGTCCTGTCCTGTCCTGTCC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	258	0.0039	30	c.32- others(47): Show c.32-20051_32-20050insCTGTCCTGTCCTGTCCTGTCCTGTCCTG TC	DERA	ENSG00000023697.13	transcript	ENST00000428559.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
DEUP1_chr11_93325742_93443470	93373570	C C	CATATATA others(23): Show CATATATATATACATATATATATATACGTAT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0041 a0001c0001t0005g0041	1	368	0.0027	30	c.789 others(47): Show c.789+2313_789+2314insTACGTATATATATATATACATATATATA TA	DEUP1	ENSG00000165325.15	transcript	ENST00000298050.9	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr11	TogoVar
DEUP1_chr11_93325742_93443470	93373580	T T	TACATATA others(23): Show TACATATATATATATACGTATATATATATAC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0006 a0001c0014t0006	a0001c0014t0006g0273 a0001c0014t0006g0273	1	368	0.0027	30	c.789 others(47): Show c.789+2313_789+2314insTACGTATATATATATACACATATATATA TA	DEUP1	ENSG00000165325.15	transcript	ENST00000298050.9	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr11	TogoVar
DGCR2_chr22_19031286_19127412	19062774	T T	TTCTCTCT others(23): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0133 a0002c0002t0002g0133	1	344	0.0029	30	c.625 others(45): Show c.625+427_625+428insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	DGCR2	ENSG00000070413.21	transcript	ENST00000263196.12	protein_coding	5/9			chr22	TogoVar
DGCR2_chr22_19031286_19127412	19062779	A A	ACTCTCTC others(23): Show ACTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01069.hp1 HG01071.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0161 a0002c0002t0002g0162 a0002c0002t0002g0161 a0002c0002t0002g0162	2	344	0.0058	30	c.625 others(45): Show c.625+422_625+423insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	DGCR2	ENSG00000070413.21	transcript	ENST00000263196.12	protein_coding	5/9			chr22	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGCG others(23): Show TGTGTGCGCGCGCGCGCGCGCGCGCGCACGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	1	392	0.0026	30	c.-28 others(41): Show c.-2845_-2844insGCGTGCGCGCGCGCGCGCGCGCGCGCACAC	DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding		2773		chr22	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGTG others(23): Show TGTGTGTGCGCGCGCGCGCGCGCGCGCACGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp1 NA18983.hp2 HG02735.hp1 NA18983.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	2	392	0.0051	30	c.-28 others(41): Show c.-2845_-2844insGCGTGCGCGCGCGCGCGCGCGCGCACACAC	DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding		2773		chr22	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGTG others(23): Show TGTGTGTGTGCGCGCGCGCGCGCGCGCACGC	upstream_gene_variant upstream_gene_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	1	392	0.0026	30	c.-28 others(41): Show c.-2845_-2844insGCGTGCGCGCGCGCGCGCGCGCACACACAC	DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding		2773		chr22	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGTG others(23): Show TGTGTGTGTGCGCGCTTGCGCGCGCGCACGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0005 a0001c0001t0003g0005	1	392	0.0026	30	c.-28 others(41): Show c.-2845_-2844insGCGTGCGCGCGCGCAAGCGCGCACACACAC	DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding		2773		chr22	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGTG others(23): Show TGTGTGTGTGTGCGCAGCGCAGCGCGCACGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0005 a0001c0001t0003g0005	1	392	0.0026	30	c.-28 others(41): Show c.-2845_-2844insGCGTGCGCGCTGCGCTGCGCACACACACAC	DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding		2773		chr22	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGTG others(23): Show TGTGTGTGTGTGCGCGCGCGCGCGCGCATGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp2 NA18956.hp2 HG03486.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0001 a0001c0001t0001g0018	2	392	0.0051	30	c.-28 others(41): Show c.-2845_-2844insGCATGCGCGCGCGCGCGCGCACACACACAC	DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding		2773		chr22	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGTG others(23): Show TGTGTGTGTGTGTGCGCGCGCGCGCGCATGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	392	0.0026	30	c.-28 others(41): Show c.-2845_-2844insGCATGCGCGCGCGCGCGCACACACACACAC	DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding		2773		chr22	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGTG others(23): Show TGTGTGTGTGTGTGTGCGCGCGCGCGCACGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp2 HG02572.hp1 HG02040.hp2 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0001 a0001c0002t0002g0002 a0001c0001t0001g0001 a0001c0002t0002g0002	2	392	0.0051	30	c.-28 others(41): Show c.-2845_-2844insGCGTGCGCGCGCGCGCACACACACACACAC	DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding		2773		chr22	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGTG others(23): Show TGTGTGTGTGTGTGTGTGCGCGCGCGCATGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	392	0.0026	30	c.-28 others(41): Show c.-2845_-2844insGCATGCGCGCGCGCACACACACACACACAC	DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding		2773		chr22	TogoVar
DGKB_chr7_14140049_14907751	14360448	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0122 a0001c0001t0023g0122	1	148	0.0068	30	c.183 others(51): Show c.1836-15058_1836-15057insTATATATATATATATATATATATA TATATA	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	21/25			chr7	TogoVar
DGKB_chr7_14140049_14907751	14612154	C C	CATTTTAT others(23): Show CATTTTATTTTATTTTATTTTATTTTATTTT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00621.hp2 HG01255.hp1 others(10): Show HG00558.hp2 HG00621.hp2 HG01255.hp1 HG01993.hp2 HG02071.hp1 HG02135.hp1 HG02135.hp2 HG02523.hp2 HG03942.hp1 NA18984.hp2 NA19002.hp1 NA19057.hp2 NA19081.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0002c0007 a0004c0011	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0004t0001 a0002c0007t0006 a0004c0011t0002	a0001c0001t0001g0047 a0001c0001t0001g0098 a0001c0001t0001g0101 others(10): Show a0001c0001t0001g0047 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0105 a0001c0001t0002g0106 a0001c0001t0002g0111 a0001c0001t0002g0117 a0001c0001t0002g0143 a0001c0002t0001g0070 a0001c0002t0002g0020 a0001c0004t0001g0026 a0002c0007t0006g0041 a0004c0011t0002g0110	13	148	0.0878	30	c.135 others(49): Show c.1358+1156_1358+1185dupAAAATAAAATAAAATAAAATAAAATA AAAT	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	16/25			chr7	TogoVar
DGKB_chr7_14140049_14907751	14628307	A A	ATGTGTGT others(23): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0074 a0001c0002t0002g0074	1	148	0.0068	30	c.116 others(49): Show c.1167+1928_1167+1929insCACACACACACACACACACACACACA CACA	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	14/25			chr7	TogoVar
DGKG_chr3_186142201_186367234	186223011	C C	CTATATAT others(23): Show CTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00642.hp1 HG00673.hp2 others(10): Show HG00639.hp2 HG00642.hp1 HG00673.hp2 HG01993.hp1 HG02132.hp1 HG02273.hp1 HG04115.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18999.hp2 NA20752.hp1 NA20752.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0003 a0002c0001 others(3): Show a0001c0002 a0001c0003 a0002c0001 a0002c0005 a0003c0004 a0003c0006	a0001c0002t0002 a0001c0002t0006 a0001c0002t0009 others(8): Show a0001c0002t0002 a0001c0002t0006 a0001c0002t0009 a0001c0003t0003 a0002c0001t0001 a0002c0001t0002 a0002c0001t0004 a0002c0001t0022 a0002c0005t0004 a0003c0004t0009 a0003c0006t0001	a0001c0002t0002g0036 a0001c0002t0006g0081 a0001c0002t0009g0187 others(10): Show a0001c0002t0002g0036 a0001c0002t0006g0081 a0001c0002t0009g0187 a0001c0003t0003g0184 a0002c0001t0001g0078 a0002c0001t0001g0130 a0002c0001t0002g0034 a0002c0001t0002g0123 a0002c0001t0004g0094 a0002c0001t0022g0189 a0002c0005t0004g0019 a0003c0004t0009g0193 a0003c0006t0001g0144	13	234	0.0556	30	c.182 others(51): Show c.1827-11127_1827-11126insTATATATATATATATATATATATA TATATA	DGKG	ENSG00000058866.15	transcript	ENST00000265022.8	protein_coding	20/24			chr3	TogoVar
DGKG_chr3_186142201_186367234	186297068	T T	TCTCTCTC others(23): Show TCTCTCTCTCTCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0039 a0002c0001t0039	a0002c0001t0039g0203 a0002c0001t0039g0203	1	234	0.0043	30	c.373 others(45): Show c.373+352_373+353insTGTGTGTGTGTGTGTGTGTGAGAGAGAGAG	DGKG	ENSG00000058866.15	transcript	ENST00000265022.8	protein_coding	5/24			chr3	TogoVar
DGKG_chr3_186142201_186367234	186346655	G G	GCTATACT others(23): Show GCTATACTATACTATACTATACTATACTATA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03139.hp1 HG03195.hp2 others(2): Show HG02886.hp2 HG03139.hp1 HG03195.hp2 NA19030.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0001 a0001c0002 a0001c0003 a0002c0001	a0001c0002t0027 a0001c0003t0003 a0001c0003t0042 others(2): Show a0001c0002t0027 a0001c0003t0003 a0001c0003t0042 a0002c0001t0003 a0002c0001t0031	a0001c0002t0027g0156 a0001c0003t0003g0162 a0001c0003t0042g0221 others(2): Show a0001c0002t0027g0156 a0001c0003t0003g0162 a0001c0003t0042g0221 a0002c0001t0003g0232 a0002c0001t0031g0109	5	234	0.0214	30	c.-24 others(51): Show c.-249+15290_-249+15291insTATAGTATAGTATAGTATAGTATA GTATAG	DGKG	ENSG00000058866.15	transcript	ENST00000265022.8	protein_coding	1/24			chr3	TogoVar
DGKH_chr13_42043648_42247896	42159244	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG01256.hp2 HG01258.hp2 HG01884.hp2 others(1): Show HG01256.hp2 HG01258.hp2 HG01884.hp2 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0016 a0001c0001t0103 a0001c0001t0001 a0001c0001t0016 a0001c0001t0103	a0001c0001t0001g0234 a0001c0001t0016g0002 a0001c0001t0016g0037 others(1): Show a0001c0001t0001g0234 a0001c0001t0016g0002 a0001c0001t0016g0037 a0001c0001t0103g0303	4	316	0.0127	30	c.623 others(41): Show c.623-3_623-2insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	5/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
DGKI_chr7_137376037_137851974	137618151	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0026 a0001c0005t0026	a0001c0005t0026g0025 a0001c0005t0026g0025	1	94	0.0106	30	c.993 others(47): Show c.993+1672_993+1673insAAAATATATATATATATATATATATATA TA	DGKI	ENSG00000157680.17	transcript	ENST00000614521.2	protein_coding	8/32			chr7	TogoVar
DGKI_chr7_137376037_137851974	137618151	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 NA18992.hp2 HG02258.hp1 NA18992.hp2	a0001 a0001	a0001c0004 a0001c0014 a0001c0004 a0001c0014	a0001c0004t0047 a0001c0014t0007 a0001c0004t0047 a0001c0014t0007	a0001c0004t0047g0067 a0001c0014t0007g0016 a0001c0004t0047g0067 a0001c0014t0007g0016	2	94	0.0213	30	c.993 others(47): Show c.993+1672_993+1673insAAAAAATATATATATATATATATATATA TA	DGKI	ENSG00000157680.17	transcript	ENST00000614521.2	protein_coding	8/32			chr7	TogoVar
DGKI_chr7_137376037_137851974	137638615	C C	CATATATA others(23): Show CATATATACACATATATGTATATATGTGTAT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0002 a0001c0011t0001g0002	1	94	0.0106	30	c.804 others(47): Show c.804+6856_804+6857insATACACATATATACATATATGTGTATAT AT	DGKI	ENSG00000157680.17	transcript	ENST00000614521.2	protein_coding	6/32			chr7	TogoVar
DGKI_chr7_137376037_137851974	137767471	G G	GGAAGAGA others(23): Show GGAAGAGAAGAGAAGAGAAGAGAAGAGAAGA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0031 a0001c0011t0001g0031	1	94	0.0106	30	c.402 others(49): Show c.402-77499_402-77470dupTCTTCTCTTCTCTTCTCTTCTCTTCT CTTC	DGKI	ENSG00000157680.17	transcript	ENST00000614521.2	protein_coding	1/32			chr7	TogoVar
DGLUCY_chr14_91109073_91230632	91182898	G G	GTTATTTT others(23): Show GTTATTTTATTTTATTTTATTTTATTTTATT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02280.hp2 HG02922.hp1 others(1): Show HG01192.hp2 HG02280.hp2 HG02922.hp1 HG03516.hp1	a0002 a0005 a0015 a0002 a0005 a0015	a0002c0002 a0005c0015 a0015c0026 a0002c0002 a0005c0015 a0015c0026	a0002c0002t0001 a0005c0015t0001 a0015c0026t0015 a0002c0002t0001 a0005c0015t0001 a0015c0026t0015	a0002c0002t0001g0187 a0005c0015t0001g0189 a0005c0015t0001g0202 others(1): Show a0002c0002t0001g0187 a0005c0015t0001g0189 a0005c0015t0001g0202 a0015c0026t0015g0038	4	216	0.0185	30	c.934 others(47): Show c.934+1536_934+1537insATTTTATTTTATTTTATTTTATTTTATT TT	DGLUCY	ENSG00000133943.21	transcript	ENST00000256324.15	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
DGLUCY_chr14_91109073_91230632	91205754	C C	CTCTTCTT others(23): Show CTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02970.hp2 HG02717.hp1 HG02970.hp2	a0005 a0009 a0005 a0009	a0005c0009 a0009c0016 a0005c0009 a0009c0016	a0005c0009t0001 a0009c0016t0001 a0005c0009t0001 a0009c0016t0001	a0005c0009t0001g0146 a0009c0016t0001g0151 a0005c0009t0001g0146 a0009c0016t0001g0151	2	216	0.0093	30	c.156 others(47): Show c.1564+942_1564+971dupTCTTCTTCTTCTTCTTCTTCTTCTTCTT CT	DGLUCY	ENSG00000133943.21	transcript	ENST00000256324.15	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
DGUOK_chr2_73921880_73963946	73923641	C C	CAAGAAAA others(23): Show CAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	352	0.0028	30	c.-32 others(41): Show c.-3270_-3269insAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA	DGUOK	ENSG00000114956.20	transcript	ENST00000264093.9	protein_coding		3238		chr2	TogoVar
DHFR_chr5_80621226_80659983	80637285	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0257 a0001c0001t0011g0257	1	376	0.0027	30	c.369 others(45): Show c.369+568_369+597dupATATATATATATATATATATATATATATAT	DHFR	ENSG00000228716.7	transcript	ENST00000439211.7	protein_coding	4/5			chr5	TogoVar
DHRS7C_chr17_9766438_9796592	9768850	C C	CTTATTTT others(23): Show CTTATTTTATTTATTTATTTATTTATTTATT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	424	0.0024	30	c.26 others(41): Show c.2637_*2638insAATAAATAAATAAATAAATAAATAAAATAA	DHRS7C	ENSG00000184544.12	transcript	ENST00000571134.2	protein_coding		2587		chr17	TogoVar
DHRS9_chr2_169064563_169101167	169078815	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	398	0.0025	30	c.-59 others(47): Show c.-59-2682_-59-2681insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	DHRS9	ENSG00000073737.17	transcript	ENST00000674881.1	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
DHX15_chr4_24522475_24589554	24550094	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	374	0.0027	30	c.108 others(49): Show c.1081-1073_1081-1072insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	DHX15	ENSG00000109606.13	transcript	ENST00000336812.5	protein_coding	5/13			chr4	TogoVar
DHX15_chr4_24522475_24589554	24574205	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0272 a0001c0001t0001g0272	1	374	0.0027	30	c.507 others(47): Show c.507+2037_507+2038insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	DHX15	ENSG00000109606.13	transcript	ENST00000336812.5	protein_coding	2/13			chr4	TogoVar
DHX37_chr12_124941826_124994131	124961273	T T	TGCACACA others(23): Show TGCACACACGCACACACATACACGCGTGCAC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02258.hp1 HG02258.hp2 others(19): Show HG02109.hp2 HG02258.hp1 HG02258.hp2 HG02559.hp1 HG02615.hp2 HG02630.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG03139.hp2 HG03209.hp1 HG03471.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp1 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA19030.hp2 NA19240.hp1	a0001 a0002 a0030 a0001 a0002 a0030	a0001c0009 a0002c0011 a0030c0033 a0001c0009 a0002c0011 a0030c0033	a0001c0009t0003 a0001c0009t0004 a0001c0009t0006 others(4): Show a0001c0009t0003 a0001c0009t0004 a0001c0009t0006 a0001c0009t0021 a0002c0011t0004 a0002c0011t0006 a0030c0033t0004	a0001c0009t0003g0149 a0001c0009t0003g0152 a0001c0009t0004g0109 others(19): Show a0001c0009t0003g0149 a0001c0009t0003g0152 a0001c0009t0004g0109 a0001c0009t0004g0128 a0001c0009t0004g0153 a0001c0009t0004g0155 a0001c0009t0004g0170 a0001c0009t0006g0016 a0001c0009t0006g0107 a0001c0009t0006g0151 a0001c0009t0006g0157 a0001c0009t0021g0351 a0002c0011t0004g0116 a0002c0011t0004g0117 a0002c0011t0004g0306 a0002c0011t0004g0310 a0002c0011t0004g0326 a0002c0011t0004g0333 a0002c0011t0004g0347 a0002c0011t0006g0115 a0002c0011t0006g0345 a0030c0033t0004g0057	22	370	0.0595	30	c.204 others(47): Show c.2046-851_2046-850insGTGCACGCGTGTATGTGTGTGCGTGTGT GC	DHX37	ENSG00000150990.9	transcript	ENST00000308736.7	protein_coding	15/26			chr12	TogoVar
DHX37_chr12_124941826_124994131	124961273	T T	TGCACGCA others(23): Show TGCACGCACGCACACACATACACGCGTGCAC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0003 a0003c0005t0003	a0003c0005t0003g0196 a0003c0005t0003g0196	1	370	0.0027	30	c.204 others(47): Show c.2046-851_2046-850insGTGCACGCGTGTATGTGTGTGCGTGCGT GC	DHX37	ENSG00000150990.9	transcript	ENST00000308736.7	protein_coding	15/26			chr12	TogoVar
DHX57_chr2_38792729_38880934	38853044	G G	GTTTTCTT others(23): Show GTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG02723.hp2 NA18950.hp1 NA18970.hp2 others(2): Show HG02723.hp2 NA18950.hp1 NA18970.hp2 NA19030.hp1 NA21309.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0002 a0007c0013 a0001c0001 a0002c0002 a0007c0013	a0001c0001t0002 a0002c0002t0001 a0007c0013t0003 a0001c0001t0002 a0002c0002t0001 a0007c0013t0003	a0001c0001t0002g0205 a0001c0001t0002g0206 a0002c0002t0001g0013 others(2): Show a0001c0001t0002g0205 a0001c0001t0002g0206 a0002c0002t0001g0013 a0002c0002t0001g0079 a0007c0013t0003g0193	5	284	0.0176	30	c.203 others(49): Show c.2030+1009_2030+1010insGAAAAGAAAAGAAAAGAAAAGAAAAG AAAA	DHX57	ENSG00000163214.21	transcript	ENST00000457308.6	protein_coding	9/23			chr2	TogoVar
DIAPH1_chr5_141510021_141624000	141591695	G G	GATATATA others(23): Show GATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01884.hp1 HG03225.hp2 HG01346.hp2 HG01884.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0113 a0001c0001t0002g0126 a0001c0001t0002g0137 a0001c0001t0001g0113 a0001c0001t0002g0126 a0001c0001t0002g0137	3	336	0.0089	30	c.118 others(47): Show c.118-3475_118-3446dupATATATATATATATATATATATATATAT AT	DIAPH1	ENSG00000131504.18	transcript	ENST00000389054.8	protein_coding	1/27			chr5	TogoVar
DIAPH2_chrX_96679842_97609997	96939484	G G	GTGTGTGT others(23): Show GTGTGTGTATATATATATATATATGTATATA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0007 a0001c0009t0001g0007	1	147	0.0068	30	c.132 others(47): Show c.1325+103_1325+104insGTGTGTATATATATATATATATGTATAT AT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	12/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	96939488	G G	GTATATAT others(23): Show GTATATATATATGTATATATATATGTATGTA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0107 a0001c0001t0003g0107	1	147	0.0068	30	c.132 others(47): Show c.1325+142_1325+171dupATATATGTATATATATATGTATGTATAT AT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	12/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97185484	T T	TATGTGTG others(23): Show TATGTGTGTGTATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01069.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0008 a0001c0001t0002g0009	2	147	0.0136	30	c.271 others(51): Show c.2719+43692_2719+43693insGTGTGTGTATATATATATATATAC ACACAT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	22/26		INFO_REALIGN_3_PRIME	chrX	TogoVar

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