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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ 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
C4orf46_chr4_158661675_158676887	158670028	T T	TTTTTCTT others(6): Show TTTTTCTTTTTTTC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0052 a0001c0001t0003g0052	1	370	0.0027	13	c.187 others(28): Show c.187-261_187-260insGAAAAAAAGAAAA	C4orf46	ENSG00000205208.5	transcript	ENST00000379205.5	protein_coding	1/1			chr4	TogoVar
C4orf46_chr4_158661675_158676887	158670028	T T	TTTTTTTT others(6): Show TTTTTTTTTTTTTC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(310): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00738.hp1 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 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp2 HG03579.hp1 HG03579.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 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18972.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18979.hp2 NA18981.hp1 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18989.hp1 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19079.hp1 NA19079.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0002t0001 a0001c0002t0005 a0001c0003t0004	a0001c0001t0001g0001 a0001c0001t0001g0028 a0001c0001t0001g0055 others(29): Show a0001c0001t0001g0001 a0001c0001t0001g0028 a0001c0001t0001g0055 a0001c0001t0002g0002 a0001c0001t0002g0053 a0001c0001t0003g0003 a0001c0001t0003g0009 a0001c0001t0003g0017 a0001c0001t0004g0004 a0001c0001t0004g0054 a0001c0001t0006g0008 a0001c0001t0007g0015 a0001c0001t0008g0016 a0001c0001t0009g0014 a0001c0001t0012g0034 a0001c0001t0013g0035 a0001c0001t0014g0036 a0001c0001t0015g0037 a0001c0001t0016g0048 a0001c0001t0017g0038 a0001c0001t0018g0039 a0001c0001t0019g0040 a0001c0001t0020g0041 a0001c0001t0021g0042 a0001c0001t0022g0043 a0001c0001t0024g0044 a0001c0001t0025g0045 a0001c0001t0026g0046 a0001c0001t0027g0047 a0001c0002t0001g0027 a0001c0002t0005g0005 a0001c0003t0004g0013	313	370	0.8460	13	c.187 others(28): Show c.187-261_187-260insGAAAAAAAAAAAA	C4orf46	ENSG00000205208.5	transcript	ENST00000379205.5	protein_coding	1/1			chr4	TogoVar
C4orf47_chr4_185421254_185454826	185443342	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	358	0.0028	13	c.715 others(30): Show c.715-1621_715-1620insATATATATATATT	C4orf47	ENSG00000205129.9	transcript	ENST00000378850.5	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
C4orf47_chr4_185421254_185454826	185443342	A A	ATATATAT others(6): Show ATATATATATATTT	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG03516.hp2 HG01975.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0291 a0001c0001t0003g0212 a0001c0001t0001g0291 a0001c0001t0003g0212	2	358	0.0056	13	c.715 others(30): Show c.715-1621_715-1620insATATATATATTTT	C4orf47	ENSG00000205129.9	transcript	ENST00000378850.5	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
C4orf47_chr4_185421254_185454826	185443342	A A	ATATATAT others(6): Show ATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19057.hp1 NA19056.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0289 a0001c0001t0001g0148 a0001c0001t0001g0289	2	358	0.0056	13	c.715 others(30): Show c.715-1621_715-1620insATATATATTTTTT	C4orf47	ENSG00000205129.9	transcript	ENST00000378850.5	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
C4orf47_chr4_185421254_185454826	185443342	A A	ATATATAT others(6): Show ATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG04184.hp1 NA19067.hp1 others(1): Show HG02738.hp2 HG04184.hp1 NA19067.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0144 a0001c0001t0001g0167 others(1): Show a0001c0001t0001g0137 a0001c0001t0001g0144 a0001c0001t0001g0167 a0001c0001t0001g0182	4	358	0.0112	13	c.715 others(30): Show c.715-1621_715-1620insATATATTTTTTTT	C4orf47	ENSG00000205129.9	transcript	ENST00000378850.5	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
C4orf47_chr4_185421254_185454826	185443342	A A	ATATATTT others(6): Show ATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	358	0.0028	13	c.715 others(30): Show c.715-1621_715-1620insATATTTTTTTTTT	C4orf47	ENSG00000205129.9	transcript	ENST00000378850.5	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
C4orf47_chr4_185421254_185454826	185443342	A A	ATATTTTT others(6): Show ATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	358	0.0028	13	c.715 others(30): Show c.715-1621_715-1620insATTTTTTTTTTTT	C4orf47	ENSG00000205129.9	transcript	ENST00000378850.5	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
C4orf50_chr4_5954375_6023431	5995474	A A	ACACACAC others(6): Show ACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0000 a0005c0005t0000	a0005c0005t0000g0098 a0005c0005t0000g0098	1	346	0.0029	13	c.964 others(28): Show c.964-999_964-998insGTGTGTGTGTGTG	C4orf50	ENSG00000181215.17	transcript	ENST00000711657.1	protein_coding	3/11			chr4	TogoVar
C4orf54_chr4_99631529_99662828	99643792	A A	ACACACAC others(6): Show ACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0032 a0032	a0032c0038 a0032c0038	a0032c0038t0001 a0032c0038t0001	a0032c0038t0001g0125 a0032c0038t0001g0125	1	392	0.0026	13	c.37 others(30): Show c.37-2597_*37-2596insGTGTGTGTGTGTG	C4orf54	ENSG00000248713.2	transcript	ENST00000511828.2	protein_coding	2/2			chr4	TogoVar
C4orf54_chr4_99631529_99662828	99660485	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0011 a0009c0009t0011	a0009c0009t0011g0242 a0009c0009t0011g0242	1	392	0.0026	13	c.-30 others(24): Show c.-3023_-3022insTTTTTTTTTTTTT	C4orf54	ENSG00000248713.2	transcript	ENST00000511828.2	protein_coding		2658		chr4	TogoVar
C5AR2_chr19_47327175_47352329	47335771	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0240	1	406	0.0025	13	c.-16 others(30): Show c.-16+3441_-16+3453dupAAAAAAAAAAAAA	C5AR2	ENSG00000134830.6	transcript	ENST00000595464.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr19	TogoVar
C5_chr9_120947335_121055275	121018647	G G	GAAAGAAA others(6): Show GAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02818.hp2 HG03486.hp2 others(1): Show HG02258.hp2 HG02818.hp2 HG03486.hp2 NA20129.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0069 a0006c0008t0001g0104 a0006c0008t0001g0105 others(1): Show a0006c0008t0001g0069 a0006c0008t0001g0104 a0006c0008t0001g0105 a0006c0008t0001g0106	4	276	0.0145	13	c.150 others(30): Show c.1507-808_1507-796dupTCTTTCTTTCTTT	C5	ENSG00000106804.10	transcript	ENST00000223642.3	protein_coding	12/40			chr9	TogoVar
C5_chr9_120947335_121055275	121024249	G G	GGGGAGGG others(6): Show GGGGAGGGGGGAGT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	276	0.0036	13	c.100 others(30): Show c.1001-743_1001-731dupACTCCCCCCTCCC	C5	ENSG00000106804.10	transcript	ENST00000223642.3	protein_coding	9/40			chr9	TogoVar
C5orf34_chr5_43481709_43520148	43519819	T T	TGTGTGTG others(6): Show TGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	340	0.0029	13	c.-50 others(24): Show c.-5051_-5050insCACACACACACAC	C5orf34	ENSG00000172244.9	transcript	ENST00000306862.7	protein_coding		4672		chr5	TogoVar
C5orf34_chr5_43481709_43520148	43519858	T T	TGTGTGTG others(6): Show TGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0007 a0001c0002t0002g0007	1	340	0.0029	13	c.-50 others(24): Show c.-5090_-5089insCACACACACACAC	C5orf34	ENSG00000172244.9	transcript	ENST00000306862.7	protein_coding		4711		chr5	TogoVar
C5orf46_chr5_147887722_147911538	147908963	C C	CAAAACAA others(6): Show CAAAACAAAACAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp1 HG02280.hp2 HG02976.hp2 HG02165.hp1 HG02280.hp2 HG02976.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0002 a0001c0001 a0003c0002	a0001c0001t0001 a0003c0002t0001 a0001c0001t0001 a0003c0002t0001	a0001c0001t0001g0001 a0003c0002t0001g0005 a0001c0001t0001g0001 a0003c0002t0001g0005	3	452	0.0066	13	c.-24 others(24): Show c.-2463_-2462insTTTGTTTTGTTTT	C5orf46	ENSG00000178776.5	transcript	ENST00000318315.5	protein_coding		2426		chr5	TogoVar
C5orf46_chr5_147887722_147911538	147911208	G G	GTCTTCTA others(6): Show GTCTTCTATTCTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG02717.hp2 HG06807.hp1 HG02647.hp2 HG02717.hp2 HG06807.hp1	a0002 a0003 a0002 a0003	a0002c0003 a0003c0002 a0002c0003 a0003c0002	a0002c0003t0002 a0003c0002t0001 a0002c0003t0002 a0003c0002t0001	a0002c0003t0002g0012 a0002c0003t0002g0075 a0003c0002t0001g0036 a0002c0003t0002g0012 a0002c0003t0002g0075 a0003c0002t0001g0036	3	452	0.0066	13	c.-47 others(24): Show c.-4708_-4707insATAGAATAGAAGA	C5orf46	ENSG00000178776.5	transcript	ENST00000318315.5	protein_coding		4671		chr5	TogoVar
C6orf132_chr6_42096119_42147620	42117923	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03471.hp1 HG03139.hp1 HG03471.hp1	a0003 a0033 a0003 a0033	a0003c0009 a0033c0026 a0003c0009 a0033c0026	a0003c0009t0023 a0033c0026t0023 a0003c0009t0023 a0033c0026t0023	a0003c0009t0023g0208 a0033c0026t0023g0044 a0003c0009t0023g0208 a0033c0026t0023g0044	2	364	0.0055	13	c.253 others(30): Show c.253-7645_253-7633dupTTTTTTTTTTTTT	C6orf132	ENSG00000188112.10	transcript	ENST00000341865.9	protein_coding	2/4			chr6	TogoVar
C7_chr5_40904497_40989643	40965648	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0034 a0001c0001t0005g0034	1	380	0.0026	13	c.188 others(30): Show c.1882+776_1882+777insATATATATATATT	C7	ENSG00000112936.21	transcript	ENST00000313164.10	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
C7_chr5_40904497_40989643	40978873	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02630.hp2 HG03195.hp1 others(1): Show HG01192.hp1 HG02630.hp2 HG03195.hp1 NA18522.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0008 a0001c0001t0020 a0005c0005t0001 a0001c0001t0008 a0001c0001t0020 a0005c0005t0001	a0001c0001t0008g0289 a0001c0001t0020g0369 a0001c0001t0020g0370 others(1): Show a0001c0001t0008g0289 a0001c0001t0020g0369 a0001c0001t0020g0370 a0005c0005t0001g0283	4	380	0.0105	13	c.216 others(30): Show c.2166-840_2166-828dupTTTTTTTTTTTTT	C7	ENSG00000112936.21	transcript	ENST00000313164.10	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
C7orf33_chr7_148585766_148620860	148606946	A A	ACACACAC others(6): Show ACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	444	0.0023	13	c.205 others(30): Show c.205-7095_205-7083dupCACACACACACAC	C7orf33	ENSG00000170279.3	transcript	ENST00000307003.3	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
C7orf50_chr7_992006_1143247	1040189	A A	AATAAAAA others(6): Show AATAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02083.hp1 HG02132.hp1 others(22): Show HG01934.hp1 HG02083.hp1 HG02132.hp1 HG02155.hp1 HG02300.hp2 HG03927.hp2 NA18612.hp1 NA18943.hp1 NA18944.hp2 NA18945.hp1 NA18947.hp1 NA18962.hp1 NA18963.hp1 NA18971.hp1 NA18972.hp1 NA18984.hp1 NA18998.hp2 NA18999.hp1 NA19005.hp2 NA19007.hp2 NA19055.hp1 NA19079.hp1 NA19080.hp2 NA19081.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0021 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0021 a0001c0001t0028	a0001c0001t0001g0029 a0001c0001t0004g0176 a0001c0001t0004g0177 others(22): Show a0001c0001t0001g0029 a0001c0001t0004g0176 a0001c0001t0004g0177 a0001c0001t0004g0178 a0001c0001t0004g0179 a0001c0001t0004g0180 a0001c0001t0004g0181 a0001c0001t0004g0182 a0001c0001t0004g0183 a0001c0001t0004g0184 a0001c0001t0004g0185 a0001c0001t0004g0186 a0001c0001t0004g0187 a0001c0001t0004g0188 a0001c0001t0004g0189 a0001c0001t0004g0190 a0001c0001t0004g0191 a0001c0001t0004g0192 a0001c0001t0004g0194 a0001c0001t0004g0195 a0001c0001t0004g0196 a0001c0001t0004g0197 a0001c0001t0004g0200 a0001c0001t0021g0086 a0001c0001t0028g0201	25	326	0.0767	13	c.130 others(32): Show c.130-30047_130-30046insATTTTTTTTTTAT	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1040189	A A	AATAAAAA others(6): Show AATAAAAAAATAAT	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA19056.hp2 NA18986.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0198 a0001c0001t0004g0199 a0001c0001t0004g0198 a0001c0001t0004g0199	2	326	0.0061	13	c.130 others(32): Show c.130-30047_130-30046insATTATTTTTTTAT	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1108351	T T	TGTCCCAC others(6): Show TGTCCCACACTGGA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00738.hp2 HG01074.hp1 others(39): Show HG00642.hp2 HG00738.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01123.hp1 HG01255.hp1 HG01361.hp1 HG01361.hp2 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG01993.hp2 HG02071.hp1 HG02145.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp1 HG02615.hp2 HG02622.hp1 HG02698.hp2 HG02809.hp2 HG02818.hp1 HG03139.hp1 HG03579.hp1 HG03579.hp2 HG03704.hp1 HG04204.hp1 HG04204.hp2 NA18948.hp1 NA18959.hp2 NA18963.hp2 NA18964.hp1 NA18975.hp1 NA18983.hp2 NA18985.hp2 NA19000.hp1 NA19007.hp1 NA19082.hp1 NA20300.hp2 NA20905.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0004 a0001c0001 a0002c0002 a0003c0004	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(6): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0011 a0001c0001t0015 a0001c0001t0029 a0001c0001t0030 a0002c0002t0003 a0003c0004t0002	a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0211 others(39): Show a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0211 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0231 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0242 a0001c0001t0002g0286 a0001c0001t0003g0205 a0001c0001t0003g0210 a0001c0001t0003g0213 a0001c0001t0003g0232 a0001c0001t0003g0238 a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0005g0204 a0001c0001t0005g0212 a0001c0001t0005g0227 a0001c0001t0005g0235 a0001c0001t0005g0236 a0001c0001t0005g0237 a0001c0001t0005g0241 a0001c0001t0011g0206 a0001c0001t0011g0207 a0001c0001t0011g0226 a0001c0001t0015g0225 a0001c0001t0029g0224 a0001c0001t0030g0326 a0002c0002t0003g0281 a0003c0004t0002g0230	42	326	0.1288	13	c.129 others(32): Show c.129+18905_129+18906insTCCAGTGTGGGAC	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf57_chr7_48030543_48066297	48051347	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01891.hp2 HG02055.hp2 others(10): Show HG00438.hp1 HG01891.hp2 HG02055.hp2 HG02257.hp2 HG02622.hp1 HG02717.hp1 HG02886.hp1 HG02895.hp2 HG02897.hp2 HG03453.hp2 HG03540.hp1 HG04184.hp2 NA19066.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0004 a0002c0001 a0001c0002 a0001c0004 a0002c0001	a0001c0002t0001 a0001c0004t0001 a0002c0001t0001 a0001c0002t0001 a0001c0004t0001 a0002c0001t0001	a0001c0002t0001g0010 a0001c0002t0001g0058 a0001c0002t0001g0224 others(8): Show a0001c0002t0001g0010 a0001c0002t0001g0058 a0001c0002t0001g0224 a0001c0002t0001g0225 a0001c0002t0001g0227 a0001c0002t0001g0228 a0001c0002t0001g0229 a0001c0002t0001g0237 a0001c0004t0001g0230 a0002c0001t0001g0025 a0002c0001t0001g0251	13	404	0.0322	13	c.606 others(30): Show c.606-1345_606-1333dupTTTTTTTTTTTTT	C7orf57	ENSG00000164746.14	transcript	ENST00000348904.4	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
C7orf57_chr7_48030543_48066297	48051758	C C	CTTTCTTT others(6): Show CTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG03098.hp1 NA18939.hp1 NA18957.hp1 others(1): Show HG03098.hp1 NA18939.hp1 NA18957.hp1 NA18988.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0115 a0001c0002t0001g0125 a0001c0002t0001g0187 others(1): Show a0001c0002t0001g0115 a0001c0002t0001g0125 a0001c0002t0001g0187 a0001c0002t0001g0199	4	404	0.0099	13	c.606 others(28): Show c.606-939_606-927dupTCTTTCTTTCTTT	C7orf57	ENSG00000164746.14	transcript	ENST00000348904.4	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
C7orf57_chr7_48030543_48066297	48051770	C C	CTTTCTTT others(6): Show CTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0123 a0001c0002t0001g0123	1	404	0.0025	13	c.606 others(28): Show c.606-927_606-915dupTCTTTCTTTCTTT	C7orf57	ENSG00000164746.14	transcript	ENST00000348904.4	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
C7orf57_chr7_48030543_48066297	48051817	C C	CTCTTCTC others(6): Show CTCTTCTCTTTCTT	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0098 a0003c0003t0001g0098	1	404	0.0025	13	c.606 others(28): Show c.606-879_606-878insCTCTTTCTTTCTT	C7orf57	ENSG00000164746.14	transcript	ENST00000348904.4	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
C8A_chr1_56849797_56923223	56870681	T T	TAAATTAA others(6): Show TAAATTAAATTAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0274 a0001c0001t0001g0274	1	366	0.0027	13	c.171 others(30): Show c.171+2979_171+2980insAAATTAAATTAAA	C8A	ENSG00000157131.12	transcript	ENST00000361249.4	protein_coding	2/10			chr1	TogoVar
C8orf34_chr8_68325955_68824023	68331770	C C	CTTTCCTT others(6): Show CTTTCCTTCTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0089 a0001c0001t0008g0089	1	128	0.0078	13	c.327 others(28): Show c.327+434_327+435insCCTTCTTTTTTTT	C8orf34	ENSG00000165084.16	transcript	ENST00000518698.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
C8orf34_chr8_68325955_68824023	68331783	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03195.hp1 NA21309.hp1 HG03195.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0084 a0001c0002t0001g0102 a0001c0002t0001g0084 a0001c0002t0001g0102	2	128	0.0156	13	c.327 others(28): Show c.327+461_327+473dupTTTTTTTTTTTTT	C8orf34	ENSG00000165084.16	transcript	ENST00000518698.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
C8orf34_chr8_68325955_68824023	68505738	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0073 a0002c0003t0005g0073	1	128	0.0078	13	c.766 others(32): Show c.766-16054_766-16042dupAAAAAAAAAAAAA	C8orf34	ENSG00000165084.16	transcript	ENST00000518698.6	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
C8orf34_chr8_68325955_68824023	68592232	A A	AGATTCAC others(6): Show AGATTCACAAAAAT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00609.hp1 HG00735.hp1 others(80): Show HG00558.hp1 HG00609.hp1 HG00735.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01167.hp1 HG01168.hp2 HG01243.hp1 HG01243.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01978.hp1 HG01978.hp2 HG02055.hp2 HG02109.hp2 HG02165.hp2 HG02258.hp2 HG02486.hp2 HG02615.hp1 HG02622.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03490.hp1 HG03490.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG04204.hp2 HG06807.hp2 NA18522.hp1 NA18961.hp1 NA18961.hp2 NA18983.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19062.hp1 NA19062.hp2 NA19084.hp1 NA19240.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0009 a0010	a0001c0001 a0001c0002 a0001c0005 others(13): Show a0001c0001 a0001c0002 a0001c0005 a0001c0014 a0002c0003 a0002c0004 a0002c0007 a0002c0013 a0003c0006 a0003c0008 a0004c0018 a0005c0010 a0006c0009 a0008c0012 a0009c0015 a0010c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(24): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0005t0001 a0001c0005t0003 a0001c0014t0004 a0002c0003t0001 a0002c0003t0002 a0002c0003t0005 a0002c0004t0001 a0002c0004t0002 a0002c0007t0001 a0002c0013t0001 a0003c0006t0004 a0003c0008t0001 a0004c0018t0007 a0005c0010t0003 a0006c0009t0001 a0008c0012t0001 a0009c0015t0002 a0010c0016t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(80): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0021 a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0040 a0001c0001t0001g0047 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0076 a0001c0001t0001g0083 a0001c0001t0001g0094 a0001c0001t0001g0098 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0002g0022 a0001c0001t0002g0025 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0072 a0001c0001t0002g0075 a0001c0001t0002g0088 a0001c0001t0003g0077 a0001c0001t0003g0090 a0001c0001t0004g0074 a0001c0001t0004g0111 a0001c0001t0005g0117 a0001c0001t0008g0089 a0001c0002t0001g0007 a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0060 a0001c0002t0001g0069 a0001c0002t0001g0079 a0001c0002t0001g0084 a0001c0002t0001g0093 a0001c0002t0001g0096 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0103 a0001c0002t0002g0014 a0001c0002t0002g0018 a0001c0002t0002g0085 a0001c0002t0003g0091 a0001c0002t0003g0092 a0001c0005t0001g0043 a0001c0005t0001g0044 a0001c0005t0003g0046 a0001c0014t0004g0008 a0002c0003t0001g0027 a0002c0003t0001g0028 a0002c0003t0001g0036 a0002c0003t0001g0071 a0002c0003t0001g0086 a0002c0003t0002g0026 a0002c0003t0002g0039 a0002c0003t0002g0065 a0002c0003t0005g0073 a0002c0004t0001g0019 a0002c0004t0001g0020 a0002c0004t0001g0099 a0002c0004t0001g0100 a0002c0004t0001g0104 a0002c0004t0002g0121 a0002c0007t0001g0045 a0002c0013t0001g0095 a0003c0006t0004g0124 a0003c0008t0001g0123 a0004c0018t0007g0126 a0005c0010t0003g0106 a0006c0009t0001g0107 a0008c0012t0001g0078 a0009c0015t0002g0080 a0010c0016t0001g0013	83	128	0.6484	13	c.110 others(34): Show c.1106-48144_1106-48143insGATTCACAAAAAT	C8orf34	ENSG00000165084.16	transcript	ENST00000518698.6	protein_coding	7/13			chr8	TogoVar
C8orf34_chr8_68325955_68824023	68774944	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	128	0.0078	13	c.140 others(32): Show c.1405-1444_1405-1432dupAAAAAAAAAAAAA	C8orf34	ENSG00000165084.16	transcript	ENST00000518698.6	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
C8orf74_chr8_10667628_10705590	10704003	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02809.hp2 HG02818.hp2 others(6): Show HG02145.hp1 HG02809.hp2 HG02818.hp2 HG02976.hp2 HG03098.hp1 HG03209.hp1 HG03471.hp2 HG04115.hp2 NA18906.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0002c0003 others(1): Show a0001c0001 a0002c0002 a0002c0003 a0004c0005	a0001c0001t0001 a0002c0002t0002 a0002c0003t0002 others(1): Show a0001c0001t0001 a0002c0002t0002 a0002c0003t0002 a0004c0005t0002	a0001c0001t0001g0049 a0002c0002t0002g0255 a0002c0002t0002g0320 others(5): Show a0001c0001t0001g0049 a0002c0002t0002g0255 a0002c0002t0002g0320 a0002c0003t0002g0095 a0002c0003t0002g0238 a0002c0003t0002g0317 a0004c0005t0002g0036 a0004c0005t0002g0322	9	430	0.0209	13	c.35 others(24): Show c.3532_*3533insAAAAAAAAAAAAA	C8orf74	ENSG00000171060.11	transcript	ENST00000304519.10	protein_coding		3414		chr8	TogoVar
C9_chr5_39279140_39369495	39331206	T T	TATAAATC others(6): Show TATAAATCATTTTC	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0266 a0004c0004t0001g0266	1	394	0.0025	13	c.615 others(28): Show c.615+457_615+469dupGAAAATGATTTAT	C9	ENSG00000113600.12	transcript	ENST00000263408.5	protein_coding	5/10			chr5	TogoVar
C9orf152_chr9_110194561_110213159	110198893	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp1 HG01074.hp2 HG01943.hp2 others(42): Show HG01070.hp1 HG01074.hp2 HG01943.hp2 HG01975.hp1 HG01978.hp1 HG02071.hp1 HG02132.hp2 HG02135.hp1 HG02165.hp1 HG02738.hp2 HG03834.hp1 HG03834.hp2 HG04184.hp2 HG04204.hp2 NA18747.hp2 NA18939.hp2 NA18942.hp1 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18952.hp2 NA18954.hp2 NA18959.hp1 NA18960.hp2 NA18966.hp2 NA18968.hp1 NA18975.hp1 NA18985.hp1 NA18987.hp2 NA18989.hp1 NA18990.hp1 NA19000.hp1 NA19004.hp1 NA19005.hp2 NA19011.hp2 NA19058.hp2 NA19062.hp1 NA19063.hp1 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19082.hp1 NA19085.hp1 NA19087.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0015 others(6): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0015 a0001c0001t0017 a0001c0001t0024 a0001c0001t0032 a0001c0001t0035 a0001c0001t0036 a0001c0001t0045	a0001c0001t0002g0002 a0001c0001t0002g0008 a0001c0001t0002g0010 others(18): Show a0001c0001t0002g0002 a0001c0001t0002g0008 a0001c0001t0002g0010 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0116 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0003g0005 a0001c0001t0003g0126 a0001c0001t0015g0151 a0001c0001t0015g0152 a0001c0001t0017g0022 a0001c0001t0024g0057 a0001c0001t0032g0134 a0001c0001t0035g0112 a0001c0001t0036g0124 a0001c0001t0045g0156	45	466	0.0966	13	c.20 others(24): Show c.2042_*2054dupTTTTTTTTTTTTT	C9orf152	ENSG00000188959.10	transcript	ENST00000400613.5	protein_coding		667		chr9	TogoVar
C9orf152_chr9_110194561_110213159	110209940	G G	GAGAAGAG others(6): Show GAGAAGAGGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0112 a0001c0001t0035g0112	1	466	0.0022	13	c.-23 others(24): Show c.-2362_-2361insTCTCTCCTCTTCT	C9orf152	ENSG00000188959.10	transcript	ENST00000400613.5	protein_coding		1782		chr9	TogoVar
C9orf85_chr9_71906639_71978457	71921928	T T	TATTATTA others(6): Show TATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0016 a0001c0001t0005g0016	1	250	0.0040	13	c.102 others(32): Show c.102+10092_102+10093insATTATTATTATTA	C9orf85	ENSG00000155621.15	transcript	ENST00000334731.7	protein_coding	1/3			chr9	TogoVar
CA10_chr17_51625320_52163714	51699986	T T	TTGCATGG others(6): Show TTGCATGGGGATCA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0064 a0001c0001t0003g0064	1	156	0.0064	13	c.466 others(32): Show c.466-46251_466-46250insTGATCCCCATGCA	CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	4/8			chr17	TogoVar
CA10_chr17_51625320_52163714	51707704	T T	TGTGTGTG others(6): Show TGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0102 a0001c0001t0004g0102	1	156	0.0064	13	c.465 others(32): Show c.465+39928_465+39929insCACACACACACAC	CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	4/8			chr17	TogoVar
CA10_chr17_51625320_52163714	51913640	A A	AGTAGAAT others(6): Show AGTAGAATGCTGTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00423.hp1 others(124): Show HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00741.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01516.hp1 HG01516.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03041.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp2 NA18906.hp1 NA18906.hp2 NA18950.hp2 NA18951.hp2 NA18962.hp1 NA18964.hp1 NA18964.hp2 NA18968.hp1 NA18974.hp1 NA18974.hp2 NA18982.hp2 NA19000.hp1 NA19000.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19058.hp1 NA19058.hp2 NA19062.hp2 NA19078.hp1 NA19078.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0002t0001 a0001c0003t0001	a0001c0001t0001g0009 a0001c0001t0001g0019 a0001c0001t0001g0025 others(124): Show a0001c0001t0001g0009 a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0046 a0001c0001t0001g0051 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0069 a0001c0001t0001g0073 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0092 a0001c0001t0001g0097 a0001c0001t0001g0115 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0137 a0001c0001t0001g0142 a0001c0001t0001g0149 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0008 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0020 a0001c0001t0002g0027 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0052 a0001c0001t0002g0054 a0001c0001t0002g0058 a0001c0001t0002g0062 a0001c0001t0002g0065 a0001c0001t0002g0072 a0001c0001t0002g0074 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0093 a0001c0001t0002g0103 a0001c0001t0002g0105 a0001c0001t0002g0109 a0001c0001t0002g0118 a0001c0001t0002g0127 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0003g0024 a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0068 a0001c0001t0003g0076 a0001c0001t0003g0079 a0001c0001t0003g0081 a0001c0001t0003g0098 a0001c0001t0003g0101 a0001c0001t0003g0106 a0001c0001t0003g0110 a0001c0001t0003g0119 a0001c0001t0004g0043 a0001c0001t0004g0099 a0001c0001t0004g0100 a0001c0001t0004g0102 a0001c0001t0004g0145 a0001c0001t0004g0146 a0001c0001t0004g0147 a0001c0001t0005g0001 a0001c0001t0005g0003 a0001c0001t0006g0002 a0001c0001t0007g0004 a0001c0001t0008g0096 a0001c0001t0011g0155 a0001c0001t0012g0156 a0001c0002t0001g0007 a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0017 a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0029 a0001c0002t0001g0040 a0001c0002t0001g0050 a0001c0002t0001g0053 a0001c0002t0001g0060 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0094 a0001c0002t0001g0095 a0001c0002t0001g0104 a0001c0002t0001g0107 a0001c0002t0001g0108 a0001c0002t0001g0113 a0001c0002t0001g0116 a0001c0002t0001g0117 a0001c0002t0001g0122 a0001c0002t0001g0126 a0001c0002t0001g0133 a0001c0002t0001g0139 a0001c0002t0001g0151 a0001c0003t0001g0044	127	156	0.8141	13	c.279 others(32): Show c.279+17349_279+17350insAACAGCATTCTAC	CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	3/8			chr17	TogoVar
CA10_chr17_51625320_52163714	52123371	G G	GTGTGTGT others(6): Show GTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG03471.hp1 HG02896.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0118 a0001c0002t0001g0050 a0001c0001t0002g0118 a0001c0002t0001g0050	2	156	0.0128	13	c.61+ others(30): Show c.61+34354_61+34355insACACACACACACA	CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	1/8			chr17	TogoVar
CA11_chr19_48632946_48651187	48646554	G G	GTCCGGCC others(6): Show GTCCGGCCACCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	392	0.0026	13	c.-92 others(22): Show c.-923_-922insGGGGGTGGCCGGA	CA11	ENSG00000063180.9	transcript	ENST00000084798.9	protein_coding		368		chr19	TogoVar
CA12_chr15_63316378_63386846	63364332	G G	GAAAAAAA others(6): Show GAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00544.hp2 others(24): Show HG00408.hp2 HG00423.hp2 HG00544.hp2 HG00597.hp1 HG00673.hp2 HG00735.hp1 HG00741.hp1 HG00741.hp2 HG01346.hp1 HG01433.hp1 HG01978.hp2 HG02056.hp1 HG02080.hp2 HG02523.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp2 HG03195.hp1 HG03710.hp2 HG03942.hp2 HG04204.hp2 NA18939.hp1 NA18975.hp2 NA18982.hp2 NA19012.hp2 NA19063.hp1 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016 a0001c0001t0020 a0001c0001t0029 a0001c0001t0035 a0001c0001t0043	a0001c0001t0001g0208 a0001c0001t0001g0235 a0001c0001t0001g0248 others(24): Show a0001c0001t0001g0208 a0001c0001t0001g0235 a0001c0001t0001g0248 a0001c0001t0002g0238 a0001c0001t0002g0257 a0001c0001t0002g0283 a0001c0001t0002g0286 a0001c0001t0002g0302 a0001c0001t0002g0324 a0001c0001t0003g0066 a0001c0001t0004g0131 a0001c0001t0004g0277 a0001c0001t0004g0278 a0001c0001t0004g0314 a0001c0001t0004g0337 a0001c0001t0005g0315 a0001c0001t0005g0323 a0001c0001t0006g0336 a0001c0001t0006g0338 a0001c0001t0012g0332 a0001c0001t0012g0334 a0001c0001t0015g0169 a0001c0001t0016g0234 a0001c0001t0020g0280 a0001c0001t0029g0301 a0001c0001t0035g0134 a0001c0001t0043g0330	27	356	0.0758	13	c.106 others(32): Show c.106+11313_106+11325dupTTTTTTTTTTTTT	CA12	ENSG00000074410.14	transcript	ENST00000178638.8	protein_coding	2/10			chr15	TogoVar
CA2_chr8_85459007_85486493	85473010	T T	TAAATAAA others(6): Show TAAATAAATAAATA	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0050 a0001c0006t0001g0050	1	336	0.0030	13	c.233 others(28): Show c.233-681_233-680insATAAATAAATAAA	CA2	ENSG00000104267.10	transcript	ENST00000285379.10	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr8	TogoVar
CA5A_chr16_87883013_87941529	87917729	A A	ATGTATAC others(6): Show ATGTATACACAGTG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01070.hp1 HG01891.hp1 others(12): Show HG00323.hp2 HG01070.hp1 HG01891.hp1 HG02135.hp1 HG02280.hp1 HG02647.hp1 HG03491.hp1 HG03492.hp2 HG03710.hp2 HG03927.hp1 HG04184.hp2 NA18975.hp1 NA19000.hp2 NA19030.hp1 NA20129.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0003c0006	a0001c0001t0001 a0001c0002t0002 a0001c0003t0002 others(1): Show a0001c0001t0001 a0001c0002t0002 a0001c0003t0002 a0003c0006t0001	a0001c0001t0001g0068 a0001c0001t0001g0195 a0001c0001t0001g0199 others(12): Show a0001c0001t0001g0068 a0001c0001t0001g0195 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0314 a0001c0001t0001g0360 a0001c0002t0002g0073 a0001c0002t0002g0074 a0001c0002t0002g0076 a0001c0002t0002g0113 a0001c0002t0002g0303 a0001c0002t0002g0306 a0001c0002t0002g0354 a0001c0003t0002g0075 a0003c0006t0001g0003	15	400	0.0375	13	c.340 others(30): Show c.340+9018_340+9019insCACTGTGTATACA	CA5A	ENSG00000174990.8	transcript	ENST00000649794.3	protein_coding	2/6			chr16	TogoVar
CA5A_chr16_87883013_87941529	87940803	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG01175.hp2 HG00323.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0069 a0001c0002t0002g0074 a0001c0001t0001g0069 a0001c0002t0002g0074	2	400	0.0050	13	c.-43 others(24): Show c.-4354_-4353insAAAAAAAAAAAAA	CA5A	ENSG00000174990.8	transcript	ENST00000649794.3	protein_coding		4275		chr16	TogoVar
CA5B_chrX_15733270_15793411	15736436	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG03486.hp1 HG04115.hp1 HG02258.hp1 HG03486.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 a0001c0001t0001 a0001c0001t0006 a0001c0001t0009	a0001c0001t0001g0084 a0001c0001t0006g0101 a0001c0001t0009g0031 a0001c0001t0001g0084 a0001c0001t0006g0101 a0001c0001t0009g0031	3	274	0.0110	13	c.-19 others(24): Show c.-1970_-1969insAAAAAAAAAAAAA	CA5B	ENSG00000169239.14	transcript	ENST00000318636.8	protein_coding		1833		chrX	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)