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
CPNE7_chr16_89570758_89602246	89588191	G G	GCCCCCCG others(21): Show GCCCCCCGTGTCACCCACAGATACACGGC	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0123 a0001c0002t0004g0123	1	348	0.0029	28	c.928 others(43): Show c.928-479_928-478insCGTGTCACCCACAGATACACGGCCCCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89588191	G G	GCCCCCCG others(21): Show GCCCCCCGTGTTACCCACAGATACACGGC	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19085.hp1 NA19005.hp1 NA19085.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0004 a0002c0003t0003 a0001c0002t0004 a0002c0003t0003	a0001c0002t0004g0037 a0002c0003t0003g0111 a0001c0002t0004g0037 a0002c0003t0003g0111	2	348	0.0058	28	c.928 others(43): Show c.928-479_928-478insCGTGTTACCCACAGATACACGGCCCCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89588206	G G	GCGTGTCA others(21): Show GCGTGTCACCCACAGATACACGGCCCCCC	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0303 a0001c0005t0002g0303	1	348	0.0029	28	c.928 others(43): Show c.928-442_928-441insCCGTGTCACCCACAGATACACGGCCCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89588228	G G	GCCCCCCG others(21): Show GCCCCCCGTGTCACCCACAGATACACGGC	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0016 a0002c0004t0002g0016	1	348	0.0029	28	c.928 others(43): Show c.928-442_928-441insCGTGTCACCCACAGATACACGGCCCCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89597750	T T	TGCCCACC others(21): Show TGCCCACCCATCCGTCCACCCATCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 NA19043.hp1 HG00642.hp2 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0003 a0001c0001t0001 a0002c0003t0003	a0001c0001t0001g0178 a0002c0003t0003g0137 a0001c0001t0001g0178 a0002c0003t0003g0137	2	348	0.0058	28	c.11 others(39): Show c.1129_*1130insGCCCACCCATCCGTCCACCCATCCCCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding		505		chr16	TogoVar
CPNE7_chr16_89570758_89602246	89598099	C C	CCCATCCC others(21): Show CCCATCCCCCCACCCATCCGTCCACCCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00423.hp1 HG00423.hp2 others(100): Show HG00280.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp2 HG00673.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01192.hp2 HG01243.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01361.hp2 HG01496.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG01993.hp2 HG02027.hp2 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02155.hp1 HG02165.hp1 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02486.hp1 HG02559.hp2 HG02602.hp1 HG02622.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02896.hp2 HG02922.hp1 HG02970.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03453.hp2 HG03486.hp2 HG03579.hp1 HG03927.hp2 HG03942.hp1 HG06807.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18940.hp2 NA18944.hp2 NA18945.hp2 NA18947.hp1 NA18950.hp2 NA18962.hp1 NA18964.hp2 NA18966.hp1 NA18971.hp1 NA18979.hp2 NA18980.hp1 NA18982.hp1 NA18983.hp2 NA18994.hp1 NA19005.hp2 NA19010.hp1 NA19012.hp2 NA19064.hp1 NA19082.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19088.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0007 others(2): Show a0001 a0002 a0007 a0009 a0010	a0001c0002 a0001c0005 a0001c0008 others(9): Show a0001c0002 a0001c0005 a0001c0008 a0001c0012 a0001c0013 a0001c0024 a0001c0027 a0002c0003 a0002c0004 a0007c0022 a0009c0019 a0010c0018	a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 others(16): Show a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0009 a0001c0002t0011 a0001c0005t0002 a0001c0008t0002 a0001c0008t0005 a0001c0012t0002 a0001c0013t0002 a0001c0024t0001 a0001c0027t0005 a0002c0003t0002 a0002c0003t0004 a0002c0004t0002 a0002c0004t0014 a0007c0022t0004 a0009c0019t0002 a0010c0018t0002	a0001c0002t0002g0022 a0001c0002t0002g0041 a0001c0002t0002g0042 others(95): Show a0001c0002t0002g0022 a0001c0002t0002g0041 a0001c0002t0002g0042 a0001c0002t0002g0196 a0001c0002t0002g0199 a0001c0002t0002g0201 a0001c0002t0002g0202 a0001c0002t0002g0204 a0001c0002t0002g0254 a0001c0002t0002g0255 a0001c0002t0002g0299 a0001c0002t0002g0316 a0001c0002t0002g0321 a0001c0002t0002g0329 a0001c0002t0004g0037 a0001c0002t0004g0038 a0001c0002t0004g0039 a0001c0002t0004g0110 a0001c0002t0004g0117 a0001c0002t0004g0118 a0001c0002t0004g0123 a0001c0002t0004g0131 a0001c0002t0004g0132 a0001c0002t0004g0133 a0001c0002t0004g0134 a0001c0002t0004g0150 a0001c0002t0004g0151 a0001c0002t0004g0155 a0001c0002t0004g0169 a0001c0002t0004g0223 a0001c0002t0004g0225 a0001c0002t0004g0226 a0001c0002t0004g0227 a0001c0002t0004g0228 a0001c0002t0004g0237 a0001c0002t0004g0266 a0001c0002t0004g0271 a0001c0002t0004g0326 a0001c0002t0004g0327 a0001c0002t0005g0019 a0001c0002t0005g0020 a0001c0002t0005g0074 a0001c0002t0005g0163 a0001c0002t0005g0186 a0001c0002t0005g0187 a0001c0002t0005g0197 a0001c0002t0005g0289 a0001c0002t0005g0291 a0001c0002t0005g0295 a0001c0002t0005g0320 a0001c0002t0009g0328 a0001c0002t0011g0200 a0001c0005t0002g0002 a0001c0005t0002g0003 a0001c0005t0002g0043 a0001c0005t0002g0056 a0001c0005t0002g0072 a0001c0005t0002g0107 a0001c0005t0002g0193 a0001c0005t0002g0212 a0001c0005t0002g0247 a0001c0005t0002g0250 a0001c0005t0002g0302 a0001c0005t0002g0303 a0001c0005t0002g0310 a0001c0005t0002g0317 a0001c0005t0002g0323 a0001c0008t0002g0010 a0001c0008t0002g0012 a0001c0008t0002g0015 a0001c0008t0005g0014 a0001c0012t0002g0296 a0001c0012t0002g0297 a0001c0013t0002g0006 a0001c0024t0001g0218 a0001c0027t0005g0156 a0002c0003t0002g0119 a0002c0003t0002g0153 a0002c0003t0002g0312 a0002c0003t0004g0306 a0002c0004t0002g0001 a0002c0004t0002g0016 a0002c0004t0002g0279 a0002c0004t0002g0301 a0002c0004t0002g0304 a0002c0004t0002g0307 a0002c0004t0002g0308 a0002c0004t0002g0309 a0002c0004t0002g0311 a0002c0004t0002g0314 a0002c0004t0002g0315 a0002c0004t0002g0319 a0002c0004t0002g0324 a0002c0004t0002g0332 a0002c0004t0014g0305 a0007c0022t0004g0288 a0009c0019t0002g0253 a0010c0018t0002g0246	103	348	0.2960	28	c.14 others(39): Show c.1478_*1479insCCATCCCCCCACCCATCCGTCCACCCAT	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding		854		chr16	TogoVar
CPNE8_chr12_38647203_38910591	38704826	G G	GTATATAT others(21): Show GTATATATATGTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01192.hp2 HG01256.hp1 others(10): Show HG01081.hp1 HG01192.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01993.hp2 HG02040.hp2 HG02300.hp1 HG03491.hp2 NA18747.hp1 NA18957.hp2 NA18985.hp1 NA19011.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0004 a0001c0002t0008 others(2): Show a0001c0002t0002 a0001c0002t0004 a0001c0002t0008 a0001c0002t0010 a0001c0002t0025	a0001c0002t0002g0012 a0001c0002t0002g0013 a0001c0002t0002g0029 others(10): Show a0001c0002t0002g0012 a0001c0002t0002g0013 a0001c0002t0002g0029 a0001c0002t0002g0055 a0001c0002t0002g0069 a0001c0002t0002g0079 a0001c0002t0002g0222 a0001c0002t0002g0223 a0001c0002t0004g0036 a0001c0002t0004g0297 a0001c0002t0008g0027 a0001c0002t0010g0075 a0001c0002t0025g0063	13	342	0.0380	28	c.915 others(45): Show c.915-1906_915-1905insTATATATATATATATACACATATATATA	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	13/19			chr12	TogoVar
CPNE8_chr12_38647203_38910591	38704826	G G	GTATATAT others(21): Show GTATATATATGTGTGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0334 a0001c0001t0007g0334	1	342	0.0029	28	c.915 others(45): Show c.915-1906_915-1905insTATATATATATATACACACATATATATA	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	13/19			chr12	TogoVar
CPNE8_chr12_38647203_38910591	38717427	G G	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0261 a0001c0001t0004g0261	1	342	0.0029	28	c.914 others(45): Show c.914+6344_914+6345insTATATATATATATATATATATATATATA	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	13/19			chr12	TogoVar
CPNE8_chr12_38647203_38910591	38717429	G G	GTGTATAT others(21): Show GTGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	342	0.0029	28	c.914 others(45): Show c.914+6342_914+6343insTATATATATATATATATATATATATACA	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	13/19			chr12	TogoVar
CPNE8_chr12_38647203_38910591	38760435	G G	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	342	0.0029	28	c.722 others(43): Show c.722+411_722+412insTATATATATATATATATATATATATATA	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	10/19			chr12	TogoVar
CPNE8_chr12_38647203_38910591	38760435	G G	GTGTATAT others(21): Show GTGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0237	1	342	0.0029	28	c.722 others(43): Show c.722+411_722+412insTATATATATATATATATATATATATACA	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	10/19			chr12	TogoVar
CPNE8_chr12_38647203_38910591	38760451	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0094 a0001c0001t0020g0094	1	342	0.0029	28	c.722 others(43): Show c.722+395_722+396insCATATATATATATATATATATATATATA	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	10/19			chr12	TogoVar
CPNE8_chr12_38647203_38910591	38902393	G G	GAGAAAGA others(21): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02970.hp2 HG03195.hp2 others(5): Show HG02015.hp2 HG02970.hp2 HG03195.hp2 NA18941.hp1 NA18945.hp1 NA18947.hp2 NA18978.hp1 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0001g0130 others(5): Show a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0232 a0001c0001t0005g0323	8	342	0.0234	28	c.98+ others(43): Show c.98+3043_98+3044insTTCTTTCTTTCTTTCTTTCTTTCTTTCT	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	1/19			chr12	TogoVar
CPNE8_chr12_38647203_38910591	38902417	A A	AAGAAAGA others(21): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	342	0.0029	28	c.98+ others(43): Show c.98+3019_98+3020insCTCTTTCTTTCTTTCTTTCTTTCTTTCT	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	1/19			chr12	TogoVar
CPNE9_chr3_9698833_9734908	9725656	G G	GTATATAT others(21): Show GTATATATGTATATATGTGTATATATGTA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0055 a0001c0001t0003g0055	1	440	0.0023	28	c.124 others(45): Show c.1242-278_1242-277insGTGTATATATGTATATATATGTATATAT	CPNE9	ENSG00000144550.14	transcript	ENST00000383832.8	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
CPNE9_chr3_9698833_9734908	9725662	A A	ACATGTAT others(21): Show ACATGTATGTGTATATATGTGTATATATG	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0377 a0001c0001t0001g0377	1	440	0.0023	28	c.124 others(45): Show c.1242-287_1242-286insCATGTATGTGTATATATGTGTATATATG	CPNE9	ENSG00000144550.14	transcript	ENST00000383832.8	protein_coding	17/20			chr3	TogoVar
CPNE9_chr3_9698833_9734908	9725674	G G	GTGTATAT others(21): Show GTGTATATATGTATATATATGTGTATATA	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	440	0.0023	28	c.124 others(45): Show c.1242-266_1242-265insGTATATATATGTGTATATATGTATATAT	CPNE9	ENSG00000144550.14	transcript	ENST00000383832.8	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
CPNE9_chr3_9698833_9734908	9725678	A A	ATATATGT others(21): Show ATATATGTATATATATGTATATATATGTG	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01081.hp1 others(34): Show HG01069.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp1 HG01175.hp1 HG01884.hp1 HG02109.hp1 HG02109.hp2 HG02145.hp2 HG02258.hp1 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02809.hp1 HG02886.hp2 HG02922.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp2 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03471.hp1 HG06807.hp1 NA18522.hp2 NA18906.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0023 a0001c0001t0001g0038 others(29): Show a0001c0001t0001g0002 a0001c0001t0001g0023 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0054 a0001c0001t0001g0085 a0001c0001t0001g0092 a0001c0001t0001g0097 a0001c0001t0001g0161 a0001c0001t0001g0183 a0001c0001t0001g0211 a0001c0001t0001g0232 a0001c0001t0001g0242 a0001c0001t0001g0249 a0001c0001t0001g0274 a0001c0001t0001g0315 a0001c0001t0001g0351 a0001c0001t0001g0358 a0001c0001t0001g0362 a0001c0001t0001g0365 a0001c0001t0001g0367 a0001c0001t0001g0371 a0001c0001t0001g0373	37	440	0.0841	28	c.124 others(45): Show c.1242-266_1242-265insGTATATATATGTATATATATGTGTATAT	CPNE9	ENSG00000144550.14	transcript	ENST00000383832.8	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
CPQ_chr8_96640242_97148501	96730866	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02647.hp2 HG02055.hp1 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0010 a0001c0002t0001g0122 a0001c0001t0001g0010 a0001c0002t0001g0122	2	126	0.0159	28	c.-34 others(47): Show c.-34-53972_-34-53971insATATATATATATATATATATATATAT AT	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPSF2_chr14_92116969_92177145	92165854	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18950.hp2 NA19079.hp1 NA18950.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0016 a0001c0001t0036g0031 a0001c0001t0036g0016 a0001c0001t0036g0031	2	388	0.0052	28	c.41 others(39): Show c.4135_*4136insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	CPSF2	ENSG00000165934.13	transcript	ENST00000298875.9	protein_coding	16/16	4136	INFO_REALIGN_3_PRIME	chr14	TogoVar
CPSF2_chr14_92116969_92177145	92173330	T T	TATATATA others(21): Show TATATATATATATATATATATATACATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0124 a0001c0001t0124	a0001c0001t0124g0245 a0001c0001t0124g0245	1	388	0.0026	28	c.11 others(41): Show c.11586_*11587insATATATATATATATATATATATACATAC	CPSF2	ENSG00000165934.13	transcript	ENST00000298875.9	protein_coding		1186		chr14	TogoVar
CPSF2_chr14_92116969_92177145	92173344	T T	TACACGTA others(21): Show TACACGTATATATATGTATATATATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0114 a0001c0001t0115 a0001c0001t0114 a0001c0001t0115	a0001c0001t0114g0254 a0001c0001t0115g0255 a0001c0001t0114g0254 a0001c0001t0115g0255	2	388	0.0052	28	c.11 others(41): Show c.11600_*11601insACACGTATATATATGTATATATATATAC	CPSF2	ENSG00000165934.13	transcript	ENST00000298875.9	protein_coding		1200		chr14	TogoVar
CPSF4_chr7_99433943_99462373	99440655	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02970.hp1 HG06807.hp1 HG02809.hp2 HG02970.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0002 a0001c0001t0002 a0001c0003t0002	a0001c0001t0002g0116 a0001c0003t0002g0088 a0001c0003t0002g0089 a0001c0001t0002g0116 a0001c0003t0002g0088 a0001c0003t0002g0089	3	364	0.0082	28	c.103 others(45): Show c.103+1490_103+1491insATATATATATATATATATATATATATAT	CPSF4	ENSG00000160917.15	transcript	ENST00000292476.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPSF4_chr7_99433943_99462373	99440674	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0102 a0001c0003t0002g0102	1	364	0.0028	28	c.103 others(45): Show c.103+1490_103+1491insATATATATATATATATATATATATTTTT	CPSF4	ENSG00000160917.15	transcript	ENST00000292476.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPSF4_chr7_99433943_99462373	99440674	A A	ATATATAT others(21): Show ATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0110 a0001c0003t0002g0110	1	364	0.0028	28	c.103 others(45): Show c.103+1490_103+1491insATATATATATATATATATTTTTTTTTTT	CPSF4	ENSG00000160917.15	transcript	ENST00000292476.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPSF6_chr12_69234569_69279358	69236503	T T	TATATATT others(21): Show TATATATTATATATTAAAATATATATAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0265 a0001c0001t0014g0265	1	392	0.0026	28	c.-31 others(39): Show c.-3144_-3143insATATATTATATATTAAAATATATATAGC	CPSF6	ENSG00000111605.18	transcript	ENST00000435070.7	protein_coding		3065		chr12	TogoVar
CPT1C_chr19_49686116_49718731	49703563	T T	TCCTCCCT others(21): Show TCCTCCCTCCCTCCCTCCCTCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0121 a0001c0001t0003g0121	1	350	0.0029	28	c.694 others(45): Show c.694-1139_694-1112dupCCCTCCCTCCCTCCCTCCCTCCCTCCCT	CPT1C	ENSG00000169169.15	transcript	ENST00000598293.6	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr19	TogoVar
CPT1C_chr19_49686116_49718731	49703587	C C	CCTTCCCT others(21): Show CCTTCCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01106.hp1 HG01358.hp2 others(1): Show HG01074.hp2 HG01106.hp1 HG01358.hp2 HG01516.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0004 a0002c0005 a0001c0002 a0001c0004 a0002c0005	a0001c0002t0002 a0001c0004t0002 a0002c0005t0002 a0001c0002t0002 a0001c0004t0002 a0002c0005t0002	a0001c0002t0002g0190 a0001c0002t0002g0196 a0001c0004t0002g0203 others(1): Show a0001c0002t0002g0190 a0001c0002t0002g0196 a0001c0004t0002g0203 a0002c0005t0002g0205	4	350	0.0114	28	c.694 others(45): Show c.694-1122_694-1121insTTCCCTTCCTTCCTTCCTTCCTTCCTTC	CPT1C	ENSG00000169169.15	transcript	ENST00000598293.6	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr19	TogoVar
CPT1C_chr19_49686116_49718731	49703595	C C	CCCTCCCT others(21): Show CCCTCCCTCCCTCCCTCCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0046 a0001c0001t0002g0046	1	350	0.0029	28	c.694 others(45): Show c.694-1112_694-1111insCCCTCCCTCCCTCCCTTCCTTCCTTCCT	CPT1C	ENSG00000169169.15	transcript	ENST00000598293.6	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr19	TogoVar
CPT1C_chr19_49686116_49718731	49703595	C C	CCCTCCCT others(21): Show CCCTCCCTCCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0072 a0001c0001t0002g0072	1	350	0.0029	28	c.694 others(45): Show c.694-1112_694-1111insCCCTCCCTTCCTTCCTTCCTTCCTTCCT	CPT1C	ENSG00000169169.15	transcript	ENST00000598293.6	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr19	TogoVar
CPXCR1_chrX_88742225_88759781	88759446	C C	CATATGTA others(21): Show CATATGTACACATACATATGTACACATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG01884.hp1 HG02280.hp1 others(1): Show HG00735.hp2 HG01884.hp1 HG02280.hp1 HG03225.hp1	a0001 a0004 a0001 a0004	a0001c0004 a0004c0008 a0001c0004 a0004c0008	a0001c0004t0001 a0004c0008t0001 a0001c0004t0001 a0004c0008t0001	a0001c0004t0001g0025 a0001c0004t0001g0059 a0004c0008t0001g0026 a0001c0004t0001g0025 a0001c0004t0001g0059 a0004c0008t0001g0026	4	308	0.0130	28	c.51 others(39): Show c.5126_*5127insATATGTACACATACATATGTACACATAT	CPXCR1	ENSG00000147183.10	transcript	ENST00000276127.9	protein_coding		4666		chrX	TogoVar
CPXM2_chr10_123740639_123896807	123826608	A A	ATATAAAA others(21): Show ATATAAAATTATAGTCATAATTTTATGAC	intron_variant intron_variant	MODIFIER	HG02647.hp2 NA18954.hp2 HG02647.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0004t0001 a0001c0001t0002 a0001c0004t0001	a0001c0001t0002g0040 a0001c0004t0001g0084 a0001c0001t0002g0040 a0001c0004t0001g0084	2	288	0.0069	28	c.653 others(47): Show c.653+15713_653+15740dupGTCATAAAATTATGACTATAATTTTA TA	CPXM2	ENSG00000121898.13	transcript	ENST00000241305.4	protein_coding	4/13			chr10	TogoVar
CPZ_chr4_8587765_8624752	8605634	T T	TATCCATT others(21): Show TATCCATTCATCCATCCATCCATCCACCC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01168.hp1 HG01169.hp1 others(21): Show HG00423.hp2 HG01168.hp1 HG01169.hp1 HG01496.hp1 HG01943.hp2 HG02074.hp1 HG02683.hp1 HG03017.hp2 HG03239.hp1 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG04115.hp2 HG04204.hp2 HG04228.hp1 NA18940.hp2 NA18941.hp2 NA18949.hp1 NA18955.hp1 NA18960.hp2 NA18986.hp1 NA18995.hp2 NA19064.hp1 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0048 a0002c0004 others(2): Show a0001c0001 a0001c0048 a0002c0004 a0002c0021 a0002c0022	a0001c0001t0002 a0001c0048t0001 a0002c0004t0002 others(3): Show a0001c0001t0002 a0001c0048t0001 a0002c0004t0002 a0002c0021t0001 a0002c0021t0002 a0002c0022t0002	a0001c0001t0002g0158 a0001c0048t0001g0104 a0002c0004t0002g0004 others(11): Show a0001c0001t0002g0158 a0001c0048t0001g0104 a0002c0004t0002g0004 a0002c0004t0002g0010 a0002c0004t0002g0023 a0002c0004t0002g0256 a0002c0004t0002g0261 a0002c0004t0002g0267 a0002c0004t0002g0270 a0002c0021t0001g0260 a0002c0021t0002g0010 a0002c0022t0002g0262 a0002c0022t0002g0277 a0002c0022t0002g0278	24	442	0.0543	28	c.710 others(43): Show c.710-342_710-341insTCCATCCATCCACCCATCCATTCATCCA	CPZ	ENSG00000109625.19	transcript	ENST00000360986.9	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CPZ_chr4_8587765_8624752	8608134	C C	CTCCAGCT others(21): Show CTCCAGCTTCCAGCTTCCAGCTTCCAGCT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0044 a0001c0044	a0001c0044t0002 a0001c0044t0002	a0001c0044t0002g0206 a0001c0044t0002g0206	1	442	0.0023	28	c.122 others(45): Show c.1227+715_1227+716insTTCCAGCTTCCAGCTTCCAGCTTCCAGC	CPZ	ENSG00000109625.19	transcript	ENST00000360986.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CPZ_chr4_8587765_8624752	8609059	A A	ACTCACCC others(21): Show ACTCACCCATTCACTCACGTACTCACTCC	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0097 a0003c0003t0003g0097	1	442	0.0023	28	c.122 others(47): Show c.1227+1637_1227+1638insACCCATTCACTCACGTACTCACTCCC TC	CPZ	ENSG00000109625.19	transcript	ENST00000360986.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CPZ_chr4_8587765_8624752	8609184	G G	GCATTCAC others(21): Show GCATTCACTCACTCCCTCATTCACTTACT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(104): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00423.hp1 HG00438.hp2 HG00621.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG01257.hp2 HG01884.hp1 HG01943.hp1 HG02004.hp2 HG02040.hp1 HG02056.hp2 HG02071.hp1 HG02080.hp1 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02148.hp2 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02738.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03239.hp2 HG03453.hp2 HG03486.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03654.hp1 HG03704.hp2 HG03831.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp2 NA18949.hp1 NA18951.hp1 NA18955.hp2 NA18962.hp1 NA18966.hp2 NA18972.hp2 NA18978.hp1 NA18979.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18986.hp1 NA18986.hp2 NA18991.hp1 NA18998.hp1 NA19010.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19066.hp1 NA19070.hp2 NA19076.hp1 NA19081.hp1 NA19085.hp1 NA19086.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008 a0015 a0019 a0021	a0001c0006 a0001c0007 a0001c0010 others(21): Show a0001c0006 a0001c0007 a0001c0010 a0001c0011 a0001c0012 a0001c0026 a0001c0049 a0001c0052 a0001c0053 a0002c0004 a0002c0065 a0003c0003 a0003c0008 a0003c0060 a0003c0061 a0004c0002 a0004c0018 a0004c0029 a0005c0016 a0007c0054 a0008c0020 a0015c0023 a0019c0068 a0021c0056	a0001c0006t0001 a0001c0006t0002 a0001c0007t0003 others(25): Show a0001c0006t0001 a0001c0006t0002 a0001c0007t0003 a0001c0010t0002 a0001c0010t0006 a0001c0011t0003 a0001c0012t0002 a0001c0026t0002 a0001c0049t0002 a0001c0052t0002 a0001c0053t0002 a0002c0004t0002 a0002c0065t0003 a0003c0003t0003 a0003c0008t0002 a0003c0060t0005 a0003c0061t0003 a0004c0002t0002 a0004c0002t0004 a0004c0018t0004 a0004c0029t0002 a0005c0016t0002 a0005c0016t0006 a0007c0054t0002 a0008c0020t0002 a0015c0023t0002 a0019c0068t0002 a0021c0056t0004	a0001c0006t0001g0168 a0001c0006t0002g0003 a0001c0006t0002g0066 others(82): Show a0001c0006t0001g0168 a0001c0006t0002g0003 a0001c0006t0002g0066 a0001c0006t0002g0067 a0001c0006t0002g0174 a0001c0006t0002g0286 a0001c0006t0002g0306 a0001c0007t0003g0041 a0001c0007t0003g0134 a0001c0007t0003g0233 a0001c0007t0003g0234 a0001c0007t0003g0235 a0001c0007t0003g0236 a0001c0010t0002g0054 a0001c0010t0002g0192 a0001c0010t0002g0194 a0001c0010t0002g0195 a0001c0010t0002g0304 a0001c0010t0006g0161 a0001c0011t0003g0011 a0001c0011t0003g0144 a0001c0011t0003g0279 a0001c0012t0002g0303 a0001c0026t0002g0193 a0001c0026t0002g0196 a0001c0049t0002g0182 a0001c0052t0002g0003 a0001c0053t0002g0129 a0002c0004t0002g0023 a0002c0065t0003g0266 a0003c0003t0003g0011 a0003c0003t0003g0029 a0003c0003t0003g0030 a0003c0003t0003g0075 a0003c0003t0003g0077 a0003c0003t0003g0083 a0003c0003t0003g0085 a0003c0003t0003g0086 a0003c0003t0003g0087 a0003c0003t0003g0088 a0003c0003t0003g0090 a0003c0003t0003g0098 a0003c0003t0003g0100 a0003c0008t0002g0028 a0003c0008t0002g0080 a0003c0008t0002g0082 a0003c0008t0002g0093 a0003c0008t0002g0095 a0003c0008t0002g0101 a0003c0060t0005g0089 a0003c0061t0003g0029 a0004c0002t0002g0018 a0004c0002t0002g0051 a0004c0002t0002g0052 a0004c0002t0002g0053 a0004c0002t0002g0110 a0004c0002t0002g0175 a0004c0002t0002g0177 a0004c0002t0002g0178 a0004c0002t0002g0179 a0004c0002t0002g0181 a0004c0002t0002g0184 a0004c0002t0002g0231 a0004c0002t0002g0232 a0004c0002t0004g0208 a0004c0002t0004g0209 a0004c0002t0004g0210 a0004c0002t0004g0211 a0004c0002t0004g0212 a0004c0002t0004g0214 a0004c0002t0004g0217 a0004c0002t0004g0218 a0004c0018t0004g0213 a0004c0018t0004g0215 a0004c0018t0004g0216 a0004c0029t0002g0058 a0005c0016t0002g0272 a0005c0016t0006g0064 a0007c0054t0002g0003 a0008c0020t0002g0027 a0008c0020t0002g0081 a0015c0023t0002g0156 a0015c0023t0002g0157 a0019c0068t0002g0246 a0021c0056t0004g0207	107	442	0.2421	28	c.122 others(47): Show c.1227+1777_1227+1778insTTCACTTACTCATTCACTCACTCCCT CA	CPZ	ENSG00000109625.19	transcript	ENST00000360986.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CPZ_chr4_8587765_8624752	8609217	C C	CACTCACT others(21): Show CACTCACTCCCTCACTCACTCATTCACTT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp2 HG01256.hp1 HG01258.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0003 a0001c0011t0003	a0001c0011t0003g0036 a0001c0011t0003g0036	2	442	0.0045	28	c.122 others(47): Show c.1227+1795_1227+1796insCACTCCCTCACTCACTCATTCACTTA CT	CPZ	ENSG00000109625.19	transcript	ENST00000360986.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CPZ_chr4_8587765_8624752	8609217	C C	CACTCCCT others(21): Show CACTCCCTCACTCACTTACTCATTGACTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00558.hp1 HG00609.hp1 others(42): Show HG00408.hp2 HG00558.hp1 HG00609.hp1 HG00609.hp2 HG00642.hp1 HG01884.hp2 HG01891.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp2 HG02056.hp1 HG02080.hp2 HG02109.hp1 HG02165.hp1 HG02451.hp1 HG02615.hp2 HG02809.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03453.hp1 HG03491.hp1 HG03492.hp2 NA18522.hp1 NA18947.hp1 NA18950.hp2 NA18959.hp1 NA18963.hp1 NA18964.hp2 NA18972.hp1 NA18974.hp1 NA18975.hp1 NA18977.hp2 NA18991.hp2 NA19000.hp1 NA19000.hp2 NA19010.hp1 NA19055.hp2 NA19072.hp2 NA19081.hp2 NA19087.hp1 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0007 a0001c0012 others(5): Show a0001c0001 a0001c0007 a0001c0012 a0001c0058 a0002c0004 a0002c0009 a0003c0059 a0004c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0007t0002 a0001c0012t0002 a0001c0058t0002 a0002c0004t0002 a0002c0009t0002 a0003c0059t0002 a0004c0017t0002	a0001c0001t0001g0222 a0001c0001t0001g0300 a0001c0001t0002g0024 others(33): Show a0001c0001t0001g0222 a0001c0001t0001g0300 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0065 a0001c0001t0002g0154 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0285 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0008g0068 a0001c0007t0002g0307 a0001c0012t0002g0132 a0001c0012t0002g0223 a0001c0012t0002g0224 a0001c0058t0002g0069 a0002c0004t0002g0259 a0002c0009t0002g0062 a0002c0009t0002g0063 a0002c0009t0002g0257 a0003c0059t0002g0079 a0004c0017t0002g0190 a0004c0017t0002g0219 a0004c0017t0002g0220	45	442	0.1018	28	c.122 others(47): Show c.1227+1795_1227+1796insCCCTCACTCACTTACTCATTGACTTA CT	CPZ	ENSG00000109625.19	transcript	ENST00000360986.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CPZ_chr4_8587765_8624752	8609233	G G	GACTTACT others(21): Show GACTTACTCACTCATTCATTGTCACTCAT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0044 a0001c0044	a0001c0044t0002 a0001c0044t0002	a0001c0044t0002g0206 a0001c0044t0002g0206	1	442	0.0023	28	c.122 others(47): Show c.1227+1808_1227+1809insACTTACTCACTCATTCATTGTCACTC AT	CPZ	ENSG00000109625.19	transcript	ENST00000360986.9	protein_coding	7/10			chr4	TogoVar
CR1L_chr1_207640133_207728703	207643914	G G	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0267 a0002c0002t0001g0267	1	346	0.0029	28	c.-13 others(39): Show c.-1320_-1319insTATATATATATATATATATATATATATA	CR1L	ENSG00000197721.17	transcript	ENST00000508064.7	protein_coding		1218		chr1	TogoVar
CR1L_chr1_207640133_207728703	207682960	T T	TTTTCTTT others(21): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02922.hp1 HG03486.hp1 HG02055.hp1 HG02922.hp1 HG03486.hp1	a0007 a0025 a0007 a0025	a0007c0007 a0025c0030 a0007c0007 a0025c0030	a0007c0007t0001 a0025c0030t0001 a0007c0007t0001 a0025c0030t0001	a0007c0007t0001g0126 a0007c0007t0001g0168 a0025c0030t0001g0118 a0007c0007t0001g0126 a0007c0007t0001g0168 a0025c0030t0001g0118	3	346	0.0087	28	c.378 others(43): Show c.378-908_378-881dupCTTTCTTTCTTTCTTTCTTTCTTTCTTT	CR1L	ENSG00000197721.17	transcript	ENST00000508064.7	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
CR1L_chr1_207640133_207728703	207683010	T T	TTCTTTCT others(21): Show TTCTTTCTTTCTTTTTCTTTTTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0014 a0014	a0014c0023 a0014c0023	a0014c0023t0001 a0014c0023t0001	a0014c0023t0001g0261 a0014c0023t0001g0261	1	346	0.0029	28	c.378 others(43): Show c.378-861_378-860insCTTTCTTTCTTTTTCTTTTTTTCTTTCT	CR1L	ENSG00000197721.17	transcript	ENST00000508064.7	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
CR1L_chr1_207640133_207728703	207683010	T T	TTCTTTCT others(21): Show TTCTTTCTTTTTCTTTTTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp2 HG01257.hp1 others(10): Show HG01168.hp2 HG01169.hp2 HG01257.hp1 HG02015.hp2 HG03704.hp1 HG03942.hp2 NA18941.hp1 NA18946.hp2 NA18971.hp2 NA18972.hp1 NA18977.hp1 NA18984.hp2 NA19085.hp2	a0004 a0029 a0004 a0029	a0004c0004 a0029c0026 a0004c0004 a0029c0026	a0004c0004t0001 a0029c0026t0001 a0004c0004t0001 a0029c0026t0001	a0004c0004t0001g0014 a0004c0004t0001g0114 a0004c0004t0001g0292 others(9): Show a0004c0004t0001g0014 a0004c0004t0001g0114 a0004c0004t0001g0292 a0004c0004t0001g0293 a0004c0004t0001g0295 a0004c0004t0001g0301 a0004c0004t0001g0305 a0004c0004t0001g0307 a0004c0004t0001g0313 a0004c0004t0001g0319 a0004c0004t0001g0323 a0029c0026t0001g0317	13	346	0.0376	28	c.378 others(43): Show c.378-861_378-860insCTTTCTTTTTCTTTTTTTCTTTCTTTCT	CR1L	ENSG00000197721.17	transcript	ENST00000508064.7	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
CR1_chr1_207491157_207646765	207510724	C C	CCCTTCCT others(21): Show CCCTTCCTTCCTTCCTACCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0013 a0013	a0013c0012 a0013c0012	a0013c0012t0001 a0013c0012t0001	a0013c0012t0001g0015 a0013c0012t0001g0015	1	360	0.0028	28	c.402 others(43): Show c.402-830_402-829insACCTTCCTTCCTTCCTTCCTTCCTTCCT	CR1	ENSG00000203710.12	transcript	ENST00000367049.9	protein_coding	3/46		INFO_REALIGN_3_PRIME	chr1	TogoVar
CR1_chr1_207491157_207646765	207510724	C C	CCCTTCCT others(21): Show CCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02698.hp2 HG01993.hp1 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0307 a0001c0001t0003g0288 a0001c0001t0002g0307 a0001c0001t0003g0288	2	360	0.0056	28	c.402 others(43): Show c.402-824_402-823insCTTCCTTCCTTCCTTCCTTCCTTCCTTC	CR1	ENSG00000203710.12	transcript	ENST00000367049.9	protein_coding	3/46		INFO_REALIGN_3_PRIME	chr1	TogoVar
CR1_chr1_207491157_207646765	207515239	A A	ATATACAT others(21): Show ATATACATATATAGGTATATACGTATACG	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0008 a0008	a0008c0036 a0008c0036	a0008c0036t0001 a0008c0036t0001	a0008c0036t0001g0145 a0008c0036t0001g0145	1	360	0.0028	28	c.487 others(45): Show c.487+3605_487+3632dupACGTATACGTATACATATATAGGTATAT	CR1	ENSG00000203710.12	transcript	ENST00000367049.9	protein_coding	4/46		INFO_REALIGN_3_PRIME	chr1	TogoVar
CR1_chr1_207491157_207646765	207581116	G G	GTATACAT others(21): Show GTATACATACGTATACATATGGACACGTA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01167.hp1 HG01169.hp1 others(4): Show HG00735.hp2 HG01167.hp1 HG01169.hp1 HG02055.hp2 HG02896.hp2 HG02922.hp1 HG03098.hp1	a0019 a0021 a0034 others(1): Show a0019 a0021 a0034 a0035	a0019c0019 a0021c0035 a0021c0050 others(2): Show a0019c0019 a0021c0035 a0021c0050 a0034c0049 a0035c0048	a0019c0019t0002 a0021c0035t0005 a0021c0050t0005 others(2): Show a0019c0019t0002 a0021c0035t0005 a0021c0050t0005 a0034c0049t0005 a0035c0048t0005	a0019c0019t0002g0188 a0019c0019t0002g0189 a0019c0019t0002g0190 others(4): Show a0019c0019t0002g0188 a0019c0019t0002g0189 a0019c0019t0002g0190 a0021c0035t0005g0066 a0021c0050t0005g0256 a0034c0049t0005g0067 a0035c0048t0005g0068	7	360	0.0194	28	c.521 others(45): Show c.5216+507_5216+534dupACATACGTATACATATGGACACGTATAT	CR1	ENSG00000203710.12	transcript	ENST00000367049.9	protein_coding	31/46		INFO_REALIGN_3_PRIME	chr1	TogoVar
CR1_chr1_207491157_207646765	207581187	C C	CATGGACA others(21): Show CATGGACACGTATATGTAGACGTATACAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01255.hp1 HG01891.hp1 others(14): Show HG01243.hp1 HG01255.hp1 HG01891.hp1 HG01943.hp1 HG01981.hp2 HG02040.hp1 HG02630.hp2 HG02723.hp1 HG03041.hp1 HG03130.hp1 HG03139.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 NA18906.hp1 NA19030.hp2 NA20300.hp2	a0011 a0012 a0015 others(5): Show a0011 a0012 a0015 a0027 a0050 a0053 a0054 a0055	a0011c0010 a0012c0013 a0015c0053 others(7): Show a0011c0010 a0012c0013 a0015c0053 a0015c0054 a0015c0055 a0027c0056 a0050c0052 a0053c0074 a0054c0076 a0055c0075	a0011c0010t0002 a0012c0013t0001 a0012c0013t0002 others(10): Show a0011c0010t0002 a0012c0013t0001 a0012c0013t0002 a0012c0013t0007 a0012c0013t0013 a0015c0053t0009 a0015c0054t0009 a0015c0055t0002 a0027c0056t0002 a0050c0052t0001 a0053c0074t0002 a0054c0076t0002 a0055c0075t0005	a0011c0010t0002g0135 a0011c0010t0002g0136 a0011c0010t0002g0137 others(14): Show a0011c0010t0002g0135 a0011c0010t0002g0136 a0011c0010t0002g0137 a0011c0010t0002g0181 a0012c0013t0001g0041 a0012c0013t0001g0255 a0012c0013t0002g0191 a0012c0013t0007g0042 a0012c0013t0013g0006 a0015c0053t0009g0071 a0015c0054t0009g0072 a0015c0055t0002g0070 a0027c0056t0002g0159 a0050c0052t0001g0073 a0053c0074t0002g0036 a0054c0076t0002g0065 a0055c0075t0005g0025	17	360	0.0472	28	c.521 others(45): Show c.5216+648_5217-630dupGACGTATACATATGGACACGTATATGTA	CR1	ENSG00000203710.12	transcript	ENST00000367049.9	protein_coding	31/46		INFO_REALIGN_3_PRIME	chr1	TogoVar
CR1_chr1_207491157_207646765	207581205	G G	GACGTATA others(21): Show GACGTATACATATGGACACGTATATGTAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 NA18522.hp1 HG01109.hp2 NA18522.hp1	a0024 a0024	a0024c0028 a0024c0028	a0024c0028t0004 a0024c0028t0004	a0024c0028t0004g0347 a0024c0028t0004g0348 a0024c0028t0004g0347 a0024c0028t0004g0348	2	360	0.0056	28	c.521 others(45): Show c.5216+619_5216+620insTACGTATACATATGGACACGTATATGTA	CR1	ENSG00000203710.12	transcript	ENST00000367049.9	protein_coding	31/46		INFO_REALIGN_3_PRIME	chr1	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)