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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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
BCLAF3_chrX_19907860_19996061	19990922	CCCGCCGC others(26): Show CCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCG	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0062 a0001c0001t0062	a0001c0001t0062g0199 a0001c0001t0062g0199	1	207	0.0048	-33	c.-82 others(40): Show c.-82_-50delCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGG		BCLAF3	ENSG00000173681.17	transcript	ENST00000379682.9	protein_coding	1/12				20659		chrX	TogoVar
BDH1_chr3_197504783_197560968	197510600	GTGTGTGT others(26): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0091 a0001c0001t0091	a0001c0001t0091g0105 a0001c0001t0091g0105	1	319	0.0031	-33	c.12 others(44): Show c.1262_*1294delACACACACACACACACACACACACACACACACA		BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	8/8				1262		chr3	TogoVar
BDH1_chr3_197504783_197560968	197510651	TGTGTGTG others(26): Show TGTGTGTGTGTGTGTGTGTGTACATGTGTGTAAG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01891.hp1 HG02818.hp2 HG01891.hp1 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0062 a0001c0001t0147 a0001c0001t0062 a0001c0001t0147	a0001c0001t0062g0070 a0001c0001t0147g0039 a0001c0001t0062g0070 a0001c0001t0147g0039	2	319	0.0063	-33	c.12 others(44): Show c.1211_*1243delCTTACACACATGTACACACACACACACACACAC		BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	8/8				1211		chr3	TogoVar
BDH1_chr3_197504783_197560968	197513481	CCCCCGGG others(26): Show CCCCCGGGAGGGCACTCAGCCCATCCAGGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG02071.hp1 NA18953.hp1 NA18957.hp1 others(1): Show HG02071.hp1 NA18953.hp1 NA18957.hp1 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0011 a0001c0001t0002 a0001c0001t0011	a0001c0001t0002g0073 a0001c0001t0002g0289 a0001c0001t0002g0293 others(1): Show a0001c0001t0002g0073 a0001c0001t0002g0289 a0001c0001t0002g0293 a0001c0001t0011g0056	4	319	0.0125	-33	c.562 others(48): Show c.562+750_562+782delACACACCTGGATGGGCTGAGTGCCCTCCCG GGG		BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	7/7						chr3	TogoVar
BEST3_chr12_69648609_69704303	69700962	TCGTTCCT others(26): Show TCGTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 HG01978.hp2 HG01070.hp1 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0052 a0001c0001t0004g0053 a0001c0001t0004g0052 a0001c0001t0004g0053	2	366	0.0055	-33	c.-18 others(44): Show c.-1806_-1774delGAGGGAGGGAAGGAAGGAAGGAAGGAAGGAACG		BEST3	ENSG00000127325.19	transcript	ENST00000330891.10	protein_coding					1660		chr12	TogoVar
BEX5_chrX_102148712_102160977	102158102	TTTCTTCT others(26): Show TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG01081.hp1 HG01106.hp1 HG00738.hp1 HG01081.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	3	324	0.0093	-33	c.-23 others(44): Show c.-2381_-2349delGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA		BEX5	ENSG00000184515.11	transcript	ENST00000333643.4	protein_coding					2126		chrX	TogoVar
BEX5_chrX_102148712_102160977	102158123	CTTCTTCT others(26): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	324	0.0031	-33	c.-24 others(44): Show c.-2402_-2370delTAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA		BEX5	ENSG00000184515.11	transcript	ENST00000333643.4	protein_coding					2147		chrX	TogoVar
BEX5_chrX_102148712_102160977	102158129	CTTCTTCT others(26): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTATTATTA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	324	0.0031	-33	c.-24 others(44): Show c.-2408_-2376delTAATAATAAGAAGAAGAAGAAGAAGAAGAAGAA		BEX5	ENSG00000184515.11	transcript	ENST00000333643.4	protein_coding					2153		chrX	TogoVar
BEX5_chrX_102148712_102160977	102158132	CTTCTTCT others(26): Show CTTCTTCTTCTTCTTCTTCTTCTTATTATTATTA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	324	0.0031	-33	c.-24 others(44): Show c.-2411_-2379delTAATAATAATAAGAAGAAGAAGAAGAAGAAGAA		BEX5	ENSG00000184515.11	transcript	ENST00000333643.4	protein_coding					2156		chrX	TogoVar
BEX5_chrX_102148712_102160977	102158135	CTTCTTCT others(26): Show CTTCTTCTTCTTCTTCTTCTTATTATTATTATTA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp1 HG02809.hp2 HG02886.hp2 others(1): Show HG02717.hp1 HG02809.hp2 HG02886.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0007 a0001c0001t0003g0010 a0001c0001t0001g0007 a0001c0001t0003g0010	4	324	0.0124	-33	c.-24 others(44): Show c.-2414_-2382delTAATAATAATAATAAGAAGAAGAAGAAGAAGAA		BEX5	ENSG00000184515.11	transcript	ENST00000333643.4	protein_coding					2159		chrX	TogoVar
BEX5_chrX_102148712_102160977	102158138	CTTCTTCT others(26): Show CTTCTTCTTCTTCTTCTTATTATTATTATTATTA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0010 a0001c0001t0003g0010	1	324	0.0031	-33	c.-24 others(44): Show c.-2417_-2385delTAATAATAATAATAATAAGAAGAAGAAGAAGAA		BEX5	ENSG00000184515.11	transcript	ENST00000333643.4	protein_coding					2162		chrX	TogoVar
BEX5_chrX_102148712_102160977	102158141	CTTCTTCT others(26): Show CTTCTTCTTCTTCTTATTATTATTATTATTATTA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp1 HG03486.hp1 HG02970.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0014 a0001c0001t0001g0007 a0001c0001t0001g0014	2	324	0.0062	-33	c.-24 others(44): Show c.-2420_-2388delTAATAATAATAATAATAATAAGAAGAAGAAGAA		BEX5	ENSG00000184515.11	transcript	ENST00000333643.4	protein_coding					2165		chrX	TogoVar
BEX5_chrX_102148712_102160977	102158144	CTTCTTCT others(26): Show CTTCTTCTTCTTATTATTATTATTATTATTATTA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	324	0.0031	-33	c.-24 others(44): Show c.-2423_-2391delTAATAATAATAATAATAATAATAAGAAGAAGAA		BEX5	ENSG00000184515.11	transcript	ENST00000333643.4	protein_coding					2168		chrX	TogoVar
BIRC2_chr11_102342214_102383670	102342354	ATATATAT others(26): Show ATATATATATATATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp2 HG02630.hp1 HG06807.hp1 others(1): Show HG01346.hp2 HG02630.hp1 HG06807.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0046 others(1): Show a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0046 a0001c0001t0001g0278	4	344	0.0116	-33	c.-62 others(44): Show c.-6279_-6247delTATATATATATATATATATATATATATATATAT		BIRC2	ENSG00000110330.10	transcript	ENST00000227758.7	protein_coding					4859		chr11	TogoVar
BIRC3_chr11_102312484_102344403	102342354	ATATATAT others(26): Show ATATATATATATATATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp2 HG02630.hp2 HG06807.hp1 others(1): Show HG01346.hp2 HG02630.hp2 HG06807.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0025 a0001c0001t0026 a0001c0001t0008 a0001c0001t0025 a0001c0001t0026	a0001c0001t0008g0048 a0001c0001t0008g0090 a0001c0001t0025g0135 others(1): Show a0001c0001t0008g0048 a0001c0001t0008g0090 a0001c0001t0025g0135 a0001c0001t0026g0049	4	384	0.0104	-33	c.52 others(44): Show c.5253_*5285delTATATATATATATATATATATATATATATATAT		BIRC3	ENSG00000023445.17	transcript	ENST00000263464.9	protein_coding					2952		chr11	TogoVar
BIRC5_chr17_78209253_78230635	78229174	TGCCTGCC others(26): Show TGCCTGCCTCGGCCTCCCAAAGTGCCGGGATTAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0017 a0001c0001t0011g0017	1	432	0.0023	-33	c.56 others(44): Show c.5621_*5653delGCCTGCCTCGGCCTCCCAAAGTGCCGGGATTAC		BIRC5	ENSG00000089685.15	transcript	ENST00000350051.8	protein_coding					3540		chr17	TogoVar
BIRC7_chr20_63230905_63245495	63234162	CGAAGGCG others(26): Show CGAAGGCGAGGTGGGCGCTGGAGGACGTGGGGGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp1 NA18971.hp1 HG03540.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0044 a0001c0001t0001g0001 a0001c0001t0001g0044	2	300	0.0067	-33	c.-19 others(44): Show c.-1934_-1902delGAAGGCGAGGTGGGCGCTGGAGGACGTGGGGGT		BIRC7	ENSG00000101197.13	transcript	ENST00000217169.8	protein_coding					1742		chr20	TogoVar
BIRC7_chr20_63230905_63245495	63234176	GCGCTGGA others(26): Show GCGCTGGAGGACGTGGGGGTGAAGGCGAGGTGGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02886.hp2 HG02897.hp1 others(3): Show HG02145.hp1 HG02886.hp2 HG02897.hp1 HG03195.hp1 HG03516.hp2 NA18906.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0007 a0006c0007t0001g0024 a0006c0007t0001g0007 a0006c0007t0001g0024	6	300	0.0200	-33	c.-19 others(44): Show c.-1920_-1888delCGCTGGAGGACGTGGGGGTGAAGGCGAGGTGGT		BIRC7	ENSG00000101197.13	transcript	ENST00000217169.8	protein_coding					1728		chr20	TogoVar
BLOC1S2_chr10_100268293_100291680	100276313	TCCCGTCT others(26): Show TCCCGTCTCCCTCTCTCTCTCCCGTCTCCCTCTC	T T	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01517.hp2 HG01516.hp1 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0038 a0001c0001t0006g0038	2	378	0.0053	-33	c.398 others(48): Show c.398-853_398-821delGAGAGGGAGACGGGAGAGAGAGAGGGAGAC GGG		BLOC1S2	ENSG00000196072.12	transcript	ENST00000370372.7	protein_coding	4/4						chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86790181	AAAAAAAA others(26): Show AAAAAAAAATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02970.hp1 NA19043.hp2 others(1): Show HG00642.hp2 HG02970.hp1 NA19043.hp2 NA19240.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0003 a0002c0001 a0004c0007 a0001c0003 a0002c0001 a0004c0007	a0001c0003t0031 a0001c0003t0033 a0002c0001t0011 others(1): Show a0001c0003t0031 a0001c0003t0033 a0002c0001t0011 a0004c0007t0010	a0001c0003t0031g0020 a0001c0003t0033g0019 a0002c0001t0011g0017 others(1): Show a0001c0003t0031g0020 a0001c0003t0033g0019 a0002c0001t0011g0017 a0004c0007t0010g0016	4	278	0.0144	-33	c.-26 others(54): Show c.-268+33264_-268+33296delAAAAAAATATATATATATATATAT ATATATATA		BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86790187	AAATATAT others(26): Show AAATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02027.hp1 HG02572.hp2 others(3): Show HG01891.hp1 HG02027.hp1 HG02572.hp2 HG02895.hp2 HG02976.hp1 NA18969.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0007 a0001c0002t0033 a0001c0002t0065 others(2): Show a0001c0002t0007 a0001c0002t0033 a0001c0002t0065 a0002c0001t0001 a0002c0001t0073	a0001c0002t0007g0192 a0001c0002t0007g0271 a0001c0002t0033g0270 others(3): Show a0001c0002t0007g0192 a0001c0002t0007g0271 a0001c0002t0033g0270 a0001c0002t0065g0251 a0002c0001t0001g0273 a0002c0001t0073g0268	6	278	0.0216	-33	c.-26 others(54): Show c.-268+33270_-268+33302delATATATATATATATATATATATAT ATATATATA		BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr10	TogoVar
BMPR2_chr2_202371327_202572749	202534934	GCTGGCCG others(26): Show GCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTC	G G	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0010 a0001c0001t0019g0011 a0001c0001t0019g0010 a0001c0001t0019g0011	2	224	0.0089	-33	c.127 others(52): Show c.1276+2216_1276+2248delGGGCTGACCCCCCCCACCTCCTGGCC GGGCGGG		BMPR2	ENSG00000204217.16	transcript	ENST00000374580.10	protein_coding	9/12					INFO_REALIGN_3_PRIME	chr2	TogoVar
BNC2_chr9_16404503_16875670	16539623	GAGGGAGG others(26): Show GAGGGAGGGAGCGAGGGAGGGAGAGAGAGAGAGA	G G	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0083 a0001c0001t0083	a0001c0001t0083g0004 a0001c0001t0083g0004	1	176	0.0057	-33	c.669 others(52): Show c.669+12874_669+12906delTCTCTCTCTCTCTCCCTCCCTCGCTC CCTCCCT		BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	5/6						chr9	TogoVar
BNIP5_chr6_36310761_36341888	36324571	GATATTAT others(26): Show GATATTATATATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01106.hp2 HG02148.hp1 HG00140.hp2 HG01106.hp2 HG02148.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0016 a0002c0002t0002g0052 a0002c0002t0002g0016 a0002c0002t0002g0052	3	424	0.0071	-33	c.116 others(50): Show c.1169-414_1169-382delATATATATATATATATATATATATATAT AATAT		BNIP5	ENSG00000189325.7	transcript	ENST00000437635.3	protein_coding	6/11						chr6	TogoVar
BOD1L1_chr4_13563738_13632725	13573473	TTTCTTTC others(26): Show TTTCTTTCTTTCTTTCTTTCTTTTGAGAAAGAGC	T T	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0010 a0010	a0010c0012 a0010c0012	a0010c0012t0005 a0010c0012t0005	a0010c0012t0005g0021 a0010c0012t0005g0021	1	258	0.0039	-33	c.903 others(52): Show c.9038+3332_9039-3346delGCTCTTTCTCAAAAGAAAGAAAGAAA GAAAGAA		BOD1L1	ENSG00000038219.13	transcript	ENST00000040738.10	protein_coding	25/25						chr4	TogoVar
BOP1_chr8_144257045_144296438	144266480	GCCCGGCA others(26): Show GCCCGGCAGCTGCCACCGCGGGGCGCAGCCGAGA	G G	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0272 a0001c0001t0001g0272	1	398	0.0025	-33	c.391 others(50): Show c.391-1442_391-1410delTCTCGGCTGCGCCCCGCGGTGGCAGCTG CCGGG		BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	3/15						chr8	TogoVar
BORCS8_chr19_19171906_19197152	19177681	GAAGGAAG others(26): Show GAAGGAAGGAAGGAAGAGAAAAGAAAAGAAAAGA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00609.hp2 others(35): Show HG00140.hp1 HG00323.hp1 HG00609.hp2 HG00673.hp1 HG01175.hp1 HG01175.hp2 HG01255.hp1 HG01255.hp2 HG01496.hp1 HG01934.hp1 HG01981.hp2 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02080.hp1 HG02135.hp1 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02300.hp1 HG02683.hp1 NA18747.hp2 NA18948.hp1 NA18949.hp1 NA18957.hp2 NA18969.hp1 NA18973.hp1 NA18974.hp2 NA18984.hp1 NA18986.hp2 NA19007.hp1 NA19011.hp2 NA19055.hp1 NA19063.hp2 NA19068.hp1 NA19085.hp2 NA19086.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0001c0001t0008 a0001c0001t0011 others(1): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0011 a0003c0003t0002	a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0002g0022 others(18): Show a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0002g0022 a0001c0001t0002g0045 a0001c0001t0002g0060 a0001c0001t0002g0094 a0001c0001t0002g0101 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0210 a0001c0001t0002g0302 a0001c0001t0002g0304 a0001c0001t0002g0307 a0001c0001t0002g0309 a0001c0001t0002g0323 a0001c0001t0002g0327 a0001c0001t0008g0305 a0001c0001t0011g0319 a0003c0003t0002g0103 a0003c0003t0002g0104 a0003c0003t0002g0149	38	428	0.0888	-33	c.43 others(48): Show c.43-254_*43-222delTCTTTTCTTTTCTTTTCTCTTCCTTCCTTC CTT		BORCS8	ENSG00000254901.8	transcript	ENST00000462790.8	protein_coding	5/5						chr19	TogoVar
BRD2_chr6_32963594_32986501	32984275	CACTTACT others(26): Show CACTTACTGTGTCCCATGCACTGTGCTAAATAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0001 a0001c0001t0015g0001	1	469	0.0021	-33	c.35 others(44): Show c.3558_*3590delACTTACTGTGTCCCATGCACTGTGCTAAATAAA		BRD2	ENSG00000204256.14	transcript	ENST00000374825.9	protein_coding					2775		chr6	TogoVar
BRDT_chr1_91944401_92019421	91962144	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0007 a0007	a0007c0013 a0007c0013	a0007c0013t0002 a0007c0013t0002	a0007c0013t0002g0293 a0007c0013t0002g0293	1	318	0.0031	-33	c.-37 others(48): Show c.-37-558_-37-526delAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA		BRDT	ENSG00000137948.19	transcript	ENST00000399546.7	protein_coding	1/18					INFO_REALIGN_3_PRIME	chr1	TogoVar
BRSK2_chr11_1384934_1467689	1453197	TGTCCGGC others(26): Show TGTCCGGCCAGGCTGTGCACTGCCCACCACGTGG	T T	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0248 a0001c0001t0006g0248	1	360	0.0028	-33	c.154 others(52): Show c.1545-1285_1545-1253delCCGGCCAGGCTGTGCACTGCCCACCA CGTGGGT		BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	15/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
BRWD1_chr21_39180482_39318632	39217050	TTTATATA others(26): Show TTTATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0264 a0001c0001t0004g0264	1	338	0.0030	-33	c.365 others(52): Show c.3659+1069_3659+1101delTATATATATATATATATATATATATA TATATAA		BRWD1	ENSG00000185658.14	transcript	ENST00000342449.8	protein_coding	31/40						chr21	TogoVar
BRWD1_chr21_39180482_39318632	39217061	ATATATAT others(26): Show ATATATATATATATATATATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0306 a0001c0001t0003g0306	1	338	0.0030	-33	c.365 others(52): Show c.3659+1058_3659+1090delAAAAAAAAAAATATATATATATATAT ATATATA		BRWD1	ENSG00000185658.14	transcript	ENST00000342449.8	protein_coding	31/40						chr21	TogoVar
BTBD9_chr6_38163451_38644929	38166259	CGCACAGC others(26): Show CGCACAGCAGAGCCCTCCACCTCCCCCACCACCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00558.hp1 others(24): Show HG00438.hp1 HG00438.hp2 HG00558.hp1 HG01255.hp1 HG01884.hp1 HG02074.hp2 HG02280.hp2 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02976.hp2 HG03540.hp1 HG03540.hp2 HG03927.hp1 NA18612.hp2 NA18906.hp1 NA18956.hp1 NA18964.hp1 NA18970.hp2 NA18975.hp1 NA18977.hp2 NA18978.hp1 NA19004.hp1 NA19030.hp1 NA19043.hp2 NA19063.hp1 NA19088.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0023 a0001c0001t0029 others(23): Show a0001c0001t0001 a0001c0001t0023 a0001c0001t0029 a0001c0001t0046 a0001c0001t0064 a0001c0001t0066 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0074 a0001c0001t0076 a0001c0001t0077 a0001c0001t0078 a0001c0001t0093 a0001c0001t0094 a0001c0001t0095 a0001c0001t0155 a0001c0001t0170 a0001c0001t0171 a0001c0001t0172 a0001c0001t0178 a0001c0001t0181 a0001c0001t0182 a0002c0003t0183	a0001c0001t0001g0221 a0001c0001t0023g0208 a0001c0001t0023g0222 others(24): Show a0001c0001t0001g0221 a0001c0001t0023g0208 a0001c0001t0023g0222 a0001c0001t0029g0048 a0001c0001t0046g0119 a0001c0001t0064g0184 a0001c0001t0066g0077 a0001c0001t0068g0062 a0001c0001t0069g0139 a0001c0001t0070g0141 a0001c0001t0071g0165 a0001c0001t0072g0011 a0001c0001t0074g0209 a0001c0001t0076g0154 a0001c0001t0077g0061 a0001c0001t0078g0082 a0001c0001t0093g0159 a0001c0001t0094g0053 a0001c0001t0095g0023 a0001c0001t0155g0166 a0001c0001t0170g0178 a0001c0001t0171g0188 a0001c0001t0172g0175 a0001c0001t0178g0071 a0001c0001t0181g0087 a0001c0001t0182g0095 a0002c0003t0183g0008	27	224	0.1205	-33	c.86 others(44): Show c.8693_*8725delCGGTGGTGGGGGAGGTGGAGGGCTCTGCTGTGC		BTBD9	ENSG00000183826.19	transcript	ENST00000481247.6	protein_coding					2191		chr6	TogoVar
BUD13_chr11_116743173_116777987	116760748	GGCTGACT others(26): Show GGCTGACTCCTTCGAGGCGGGGACAGGTCAGAAT	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18966.hp2 NA18966.hp2	a0010 a0010	a0010c0017 a0010c0017	a0010c0017t0002 a0010c0017t0002	a0010c0017t0002g0133 a0010c0017t0002g0133	1	440	0.0023	-33	c.120 others(42): Show c.1208_1240delATTCTGACCTGTCCCCGCCTCGAAGGAGTCAGC	p.Asp others(19): Show p.Asp403_Pro414delinsAla	BUD13	ENSG00000137656.12	transcript	ENST00000260210.5	protein_coding	5/10	1263/2192	1208/1860	403/619			chr11	TogoVar
C10orf53_chr10_49674651_49702532	49682532	GAGGGGGA others(26): Show GAGGGGGACAGGAGCCAGTTGCTGCTGCTGGCGC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00408.hp1 others(357): Show HG00099.hp1 HG00099.hp2 HG00408.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18947.hp2 NA18948.hp2 NA18950.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18965.hp2 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp2 NA18988.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp2 NA19006.hp1 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp2 NA19056.hp2 NA19057.hp2 NA19058.hp2 NA19059.hp1 NA19059.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19065.hp2 NA19068.hp2 NA19070.hp1 NA19075.hp1 NA19076.hp2 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19083.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19090.hp1 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(32): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0028 a0001c0002t0003 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0008 a0001c0002t0011 a0001c0002t0016 a0001c0002t0017 a0001c0002t0018 a0001c0002t0030 a0001c0002t0031 a0001c0002t0032 a0001c0002t0033 a0001c0002t0034 a0001c0002t0035 a0001c0002t0036 a0001c0002t0037 a0001c0003t0002 a0001c0004t0009 a0001c0004t0022 a0001c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0022 others(117): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0002g0003 a0001c0001t0002g0007 a0001c0001t0002g0009 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0039 a0001c0001t0002g0057 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0087 a0001c0001t0004g0055 a0001c0001t0010g0013 a0001c0001t0013g0059 a0001c0001t0013g0060 a0001c0001t0014g0005 a0001c0001t0015g0001 a0001c0001t0015g0098 a0001c0001t0019g0003 a0001c0001t0020g0001 a0001c0001t0021g0001 a0001c0001t0023g0003 a0001c0001t0024g0015 a0001c0001t0025g0003 a0001c0001t0028g0062 a0001c0002t0003g0004 a0001c0002t0003g0006 a0001c0002t0003g0019 a0001c0002t0003g0021 a0001c0002t0003g0037 a0001c0002t0003g0038 a0001c0002t0003g0056 a0001c0002t0003g0066 a0001c0002t0003g0067 a0001c0002t0003g0068 a0001c0002t0003g0069 a0001c0002t0003g0070 a0001c0002t0003g0071 a0001c0002t0003g0072 a0001c0002t0003g0073 a0001c0002t0003g0074 a0001c0002t0003g0075 a0001c0002t0003g0080 a0001c0002t0003g0085 a0001c0002t0003g0088 a0001c0002t0003g0111 a0001c0002t0003g0112 a0001c0002t0005g0027 a0001c0002t0005g0030 a0001c0002t0005g0031 a0001c0002t0005g0040 a0001c0002t0005g0044 a0001c0002t0005g0064 a0001c0002t0005g0086 a0001c0002t0006g0008 a0001c0002t0006g0047 a0001c0002t0006g0048 a0001c0002t0007g0010 a0001c0002t0007g0011 a0001c0002t0007g0046 a0001c0002t0008g0023 a0001c0002t0008g0024 a0001c0002t0008g0028 a0001c0002t0011g0010 a0001c0002t0011g0058 a0001c0002t0016g0029 a0001c0002t0017g0045 a0001c0002t0017g0049 a0001c0002t0018g0024 a0001c0002t0018g0089 a0001c0002t0030g0004 a0001c0002t0031g0065 a0001c0002t0032g0021 a0001c0002t0033g0006 a0001c0002t0034g0004 a0001c0002t0035g0004 a0001c0002t0036g0024 a0001c0002t0037g0023 a0001c0003t0002g0018 a0001c0003t0002g0020 a0001c0003t0002g0061 a0001c0003t0002g0076 a0001c0004t0009g0012 a0001c0004t0022g0063 a0001c0005t0001g0001	360	426	0.8451	-33	c.97+ others(48): Show c.97+2775_97+2807delGGGACAGGAGCCAGTTGCTGCTGCTGGCGC AGG		C10orf53	ENSG00000178645.14	transcript	ENST00000374111.8	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr10	TogoVar
C11orf96_chr11_43937637_43948878	43948238	TCAGCTCT others(26): Show TCAGCTCTCCCTCCTGAAGCACATTTGGGGTAGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	438	0.0023	-33	c.49 others(44): Show c.4966_*4998delCAGCTCTCCCTCCTGAAGCACATTTGGGGTAGG		C11orf96	ENSG00000187479.9	transcript	ENST00000617612.3	protein_coding					4361		chr11	TogoVar
C13orf46_chr13_113948705_113979076	113972047	GGCACCTC others(26): Show GGCACCTCCCATCGTGCAGTTTTGGGCAAATCCA	G G	intron_variant intron_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0074 a0005c0005t0001g0074	1	414	0.0024	-33	c.190 others(50): Show c.190+1728_190+1760delTGGATTTGCCCAAAACTGCACGATGGGA GGTGC		C13orf46	ENSG00000283199.3	transcript	ENST00000636427.3	protein_coding	1/6						chr13	TogoVar
C14orf28_chr14_44892275_44912257	44909713	GCCTCAGC others(26): Show GCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0037 a0001c0001t0004g0037	1	338	0.0030	-33	c.41 others(44): Show c.4164_*4196delCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCA		C14orf28	ENSG00000179476.8	transcript	ENST00000325192.8	protein_coding					2457		chr14	TogoVar
C16orf74_chr16_85702517_85756096	85715980	GCGGAGGC others(26): Show GCGGAGGCCCCCGACAAAAGGAATCGCTGATGAT	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01891.hp1 HG02258.hp1 others(11): Show HG01243.hp2 HG01891.hp1 HG02258.hp1 HG02258.hp2 HG02622.hp2 HG02630.hp2 HG02717.hp1 HG02886.hp2 HG02895.hp1 HG02965.hp1 HG03209.hp2 HG03688.hp2 NA19030.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0074 a0001c0001t0001g0091 a0001c0001t0001g0098 others(11): Show a0001c0001t0001g0074 a0001c0001t0001g0091 a0001c0001t0001g0098 a0001c0001t0001g0159 a0001c0001t0001g0184 a0001c0001t0001g0229 a0001c0001t0001g0339 a0001c0001t0001g0345 a0001c0001t0001g0372 a0001c0001t0001g0374 a0001c0001t0001g0388 a0001c0001t0001g0393 a0001c0001t0001g0395 a0001c0001t0002g0150	14	410	0.0342	-33	c.29- others(48): Show c.29-5706_29-5674delATCATCAGCGATTCCTTTTGTCGGGGGCCT CCG		C16orf74	ENSG00000154102.11	transcript	ENST00000284245.9	protein_coding	2/3						chr16	TogoVar
C17orf67_chr17_56786913_56838920	56789051	ATTGCTGC others(26): Show ATTGCTGCGCTTCAGCCCCGTCATCTGTGGGCCT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0052 a0001c0001t0003g0052	1	292	0.0034	-33	c.32 others(44): Show c.3289_*3321delAGGCCCACAGATGACGGGGCTGAAGCGCAGCAA		C17orf67	ENSG00000214226.9	transcript	ENST00000397861.7	protein_coding					2861		chr17	TogoVar
C19orf12_chr19_29693937_29720261	29719546	ATAAATAT others(26): Show ATAAATATATTTATATAATATAAATATATATATT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp1 HG02145.hp2 HG02572.hp2 HG01123.hp1 HG02145.hp2 HG02572.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0024 a0001c0002t0005g0041 a0001c0002t0005g0024 a0001c0002t0005g0041	3	418	0.0072	-33	c.-44 others(44): Show c.-4465_-4433delAATATATATATTTATATTATATAAATATATTTA		C19orf12	ENSG00000131943.20	transcript	ENST00000323670.14	protein_coding					4286		chr19	TogoVar
C19orf38_chr19_10843415_10874790	10871607	GGCGGCGG others(26): Show GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	384	0.0026	-33	c.22 others(44): Show c.2241_*2273delGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCA		C19orf38	ENSG00000214212.9	transcript	ENST00000397820.5	protein_coding					1818		chr19	TogoVar
C1QC_chr1_22638633_22653108	22653008	CTCCCCAC others(26): Show CTCCCCACAGCTGCTGAGTTGGCAGAACCAAACT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	450	0.0022	-33	c.52 others(44): Show c.5226_*5258delTCCCCACAGCTGCTGAGTTGGCAGAACCAAACT		C1QC	ENSG00000159189.13	transcript	ENST00000374640.9	protein_coding					4901		chr1	TogoVar
C1QTNF12_chr1_1237453_1251722	1241665	TCCGCAGC others(26): Show TCCGCAGCTCAGCAGAGGCCTGGACGTCCTGAGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	328	0.0031	-33	c.85 others(42): Show c.850_*882delCCTCAGGACGTCCAGGCCTCTGCTGAGCTGCGG		C1QTNF12	ENSG00000184163.3	transcript	ENST00000330388.2	protein_coding					787		chr1	TogoVar
C1QTNF1_chr17_79019169_79054788	79030443	CTTTCTTC others(26): Show CTTTCTTCTTTCTTTCTTTTCTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0009 a0001c0006t0009	a0001c0006t0009g0302 a0001c0006t0009g0302	1	392	0.0026	-33	c.-15 others(50): Show c.-15+5952_-15+5984delTCTTCTTTCTTTCTTTTCTTTCTTTCTT TCTTT		C1QTNF1	ENSG00000173918.15	transcript	ENST00000579760.6	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr17	TogoVar
C1orf50_chr1_42762249_42784491	42783175	GGAAACTT others(26): Show GGAAACTTTGGGGATGTCCAGGTTAATAGATGTA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0036 a0001c0001t0055g0036	1	418	0.0024	-33	c.77 others(44): Show c.7782_*7814delGAAACTTTGGGGATGTCCAGGTTAATAGATGTA		C1orf50	ENSG00000164008.17	transcript	ENST00000372525.7	protein_coding					3685		chr1	TogoVar
C2CD4C_chr19_400445_414147	404800	AGGGGGGA others(26): Show AGGGGGGACGGGGTCCTGCCCTGAGGGGTGTGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0022 a0001c0001t0021g0022	1	322	0.0031	-33	c.22 others(44): Show c.2263_*2295delCTCACACCCCTCAGGGCAGGACCCCGTCCCCCC		C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding					644		chr19	TogoVar
C2orf15_chr2_99136707_99156669	99136798	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0013 a0001c0001t0005g0013	1	414	0.0024	-33	c.-54 others(44): Show c.-5424_-5392delAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA		C2orf15	ENSG00000273045.7	transcript	ENST00000650052.2	protein_coding					4908		chr2	TogoVar
C3orf33_chr3_155757617_155811278	155770984	GTGTGTGT others(26): Show GTGTGTGTGTTGAGACATAGTTTTGCTCTGCCAC	G G	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG03942.hp2 HG02735.hp2 HG03942.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0038 a0001c0002t0002g0040 a0001c0002t0002g0038 a0001c0002t0002g0040	2	406	0.0049	-33	c.323 others(50): Show c.323-3348_323-3316delGTGGCAGAGCAAAACTATGTCTCAACAC ACACA		C3orf33	ENSG00000174928.16	transcript	ENST00000340171.7	protein_coding	3/4						chr3	TogoVar
C3orf70_chr3_185071838_185158060	185091933	ATATATAT others(26): Show ATATATATATATATATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01891.hp1 HG02809.hp2 others(2): Show HG01884.hp1 HG01891.hp1 HG02809.hp2 HG03486.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 others(2): Show a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0123 a0001c0001t0126	a0001c0001t0049g0150 a0001c0001t0050g0151 a0001c0001t0051g0147 others(2): Show a0001c0001t0049g0150 a0001c0001t0050g0151 a0001c0001t0051g0147 a0001c0001t0123g0013 a0001c0001t0126g0012	5	388	0.0129	-33	c.197 others(50): Show c.197-8403_197-8371delAAATATATATATATATATATATATATAT ATATA		C3orf70	ENSG00000187068.3	transcript	ENST00000335012.3	protein_coding	1/1						chr3	TogoVar

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