Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
COL6A2_chr21_46093112_46137848	46134455	C C	CAGGGTCA others(101): Show CAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTCAGGTTTA GGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTGAGGGTGAGG GTCAGGTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0296 a0001c0002t0002g0296	1	364	0.0028	108	c.19 others(119): Show c.1903_*1904insAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGG TGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGGTG AGGGTGAGGGTGAGGGTCAGGTTT	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1608		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134461	C C	CAGGGTCA others(101): Show CAGGGTCAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTCA GGTTTAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGTTTAGGGTCAGG GTGAGGGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0001 a0003c0010t0001	a0003c0010t0001g0189 a0003c0010t0001g0189	1	364	0.0028	108	c.19 others(119): Show c.1909_*1910insAGGGTCAGGGTCAGGGTGAGGGTCAGGTTTAGGG TCAGGGTGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTCAGGTTTAGGGTC AGGTTTAGGGTCAGGGTGAGGGTG	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1614		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134677	C C	CAGGGTCA others(101): Show CAGGGTCAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGGTCAGGTTTA GGGTCAGGTTTAGGGTCAGGGTCAGGGTCAGGGTCAGGTTTAGGGTGAGG GTCAGGGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0324 a0001c0002t0002g0324	1	364	0.0028	108	c.21 others(119): Show c.2125_*2126insAGGGTCAGGGTCAGGGTGAGGGTCAGGTTTAGGG TCAGGGTCAGGTTTAGGGTCAGGTTTAGGGTCAGGGTCAGGGTCAGGGTC AGGTTTAGGGTGAGGGTCAGGGTG	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1830		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134677	C C	CAGGGTCA others(101): Show CAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGGTCAGGTTTAGGGTCA GGTTTAGGGTCAGGGTCAGGGTCAGGGTCAGGGTCAGGTTTAGGGTGAGG GTCAGGGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG03139.hp2 HG02922.hp2 HG03139.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0277 a0001c0002t0002g0278 a0001c0002t0002g0277 a0001c0002t0002g0278	2	364	0.0055	108	c.21 others(119): Show c.2125_*2126insAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGG TCAGGTTTAGGGTCAGGTTTAGGGTCAGGGTCAGGGTCAGGGTCAGGGTC AGGTTTAGGGTGAGGGTCAGGGTG	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1830		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134695	T T	TAGGGTCA others(101): Show TAGGGTCAGGGTCAGGTTTAGGGTCAGGTTTAGGGTCAGGGTCAGGGTCA GGGTCAGGTTTAGGGTGAGGGTCAGGGTGAGGGTCAGGGTGAGGGTGAGG GTGAGGGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG00741.hp1 HG01074.hp2 HG00735.hp1 HG00741.hp1 HG01074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0123 a0001c0002t0002g0291 a0001c0002t0002g0292 a0001c0002t0002g0123 a0001c0002t0002g0291 a0001c0002t0002g0292	3	364	0.0082	108	c.21 others(119): Show c.2143_*2144insAGGGTCAGGGTCAGGTTTAGGGTCAGGTTTAGGG TCAGGGTCAGGGTCAGGGTCAGGTTTAGGGTGAGGGTCAGGGTGAGGGTC AGGGTGAGGGTGAGGGTGAGGGTG	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1848		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134695	T T	TAGGGTCA others(101): Show TAGGGTCAGGGTCAGGTTTAGGGTCAGGTTTAGGGTCAGGGTCAGGGTCA GGGTCAGGTTTAGGGTGAGGGTCAGGGTGAGGGTGAGGGTGAGGGTGAGG GTGAGGGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0296 a0001c0002t0002g0296	1	364	0.0028	108	c.21 others(119): Show c.2143_*2144insAGGGTCAGGGTCAGGTTTAGGGTCAGGTTTAGGG TCAGGGTCAGGGTCAGGGTCAGGTTTAGGGTGAGGGTCAGGGTGAGGGTG AGGGTGAGGGTGAGGGTGAGGGTC	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1848		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134695	T T	TAGGGTCA others(101): Show TAGGGTCAGGGTCAGGTTTAGGGTCAGGTTTAGGGTCAGGGTCAGGGTCA GGGTCAGGTTTAGGGTGAGGGTCAGGGTGAGGGTGAGGGTGAGGGTGAGG GTGAGGGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00597.hp2 HG01975.hp2 others(9): Show HG00423.hp1 HG00597.hp2 HG01975.hp2 HG02080.hp1 NA18985.hp2 NA18989.hp2 NA19055.hp2 NA19056.hp2 NA19065.hp1 NA19079.hp2 NA19083.hp1 NA19088.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0001c0024 a0001c0042 others(1): Show a0001c0002 a0001c0024 a0001c0042 a0003c0016	a0001c0002t0002 a0001c0024t0002 a0001c0042t0002 others(1): Show a0001c0002t0002 a0001c0024t0002 a0001c0042t0002 a0003c0016t0002	a0001c0002t0002g0001 a0001c0002t0002g0020 a0001c0002t0002g0269 others(8): Show a0001c0002t0002g0001 a0001c0002t0002g0020 a0001c0002t0002g0269 a0001c0002t0002g0275 a0001c0002t0002g0287 a0001c0002t0002g0300 a0001c0002t0002g0313 a0001c0024t0002g0318 a0001c0024t0002g0320 a0001c0042t0002g0295 a0003c0016t0002g0023	12	364	0.0330	108	c.21 others(119): Show c.2143_*2144insAGGGTCAGGGTCAGGTTTAGGGTCAGGTTTAGGG TCAGGGTCAGGGTCAGGGTCAGGTTTAGGGTGAGGGTCAGGGTGAGGGTG AGGGTGAGGGTGAGGGTGAGGGTG	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1848		chr21	TogoVar
COMMD10_chr5_116080025_116298287	116158291	C C	CTCCCTCT others(101): Show CTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCCCTC TCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCC TCTCTCCCT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01167.hp2 HG01943.hp2 others(5): Show HG00621.hp1 HG01167.hp2 HG01943.hp2 HG02148.hp1 HG02273.hp1 NA18981.hp2 NA19057.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0218 a0001c0001t0001g0222 others(5): Show a0001c0001t0001g0202 a0001c0001t0001g0218 a0001c0001t0001g0222 a0001c0001t0001g0226 a0001c0001t0001g0238 a0001c0001t0001g0243 a0001c0001t0001g0290 a0001c0001t0001g0347	8	350	0.0229	108	c.510 others(127): Show c.510+24113_510+24114insTCCCTCTCCCCTCTCTCCCTCTCCCC TCTCTCCCTCTCCCCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCC CTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6			chr5	TogoVar
COMMD10_chr5_116080025_116298287	116158291	C C	CTCCGTCT others(101): Show CTCCGTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCC TCTCCCCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCC TCTCTCCCT	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0235	1	350	0.0029	108	c.510 others(127): Show c.510+24113_510+24114insTCCGTCTCCCCTCTCTCCCTCTCCCC TCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCCCTCTCCCCTCTCTCC CTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6			chr5	TogoVar
COMMD10_chr5_116080025_116298287	116158501	T T	TCTCCTCT others(101): Show TCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCC TCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCGTCTCCTCTCT CCCCCTCCC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0030 a0002c0003t0001g0030	1	350	0.0029	108	c.510 others(127): Show c.510+24324_510+24325insTCCTCTCTCTCCCTCTCCTCTCTCTC CCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCT CCTCTCTCTCCGTCTCCTCTCTCCCCCTCCCC	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
COPE_chr19_18894514_18924387	18902768	G G	GAAAGAAA others(101): Show GAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAG AAAGGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01167.hp2 HG01169.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0116 a0002c0003t0001g0139 a0002c0003t0001g0116 a0002c0003t0001g0139	2	330	0.0061	108	c.735 others(123): Show c.735+499_735+500insTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTCCTTTCTTTCCTTTCTTTCCTTTCTT TCCTTTCTTTCCTTTCTTTCCTTTCTTT	COPE	ENSG00000105669.14	transcript	ENST00000262812.9	protein_coding	7/9			chr19	TogoVar
CPNE4_chr3_131528569_132040014	131978418	A A	ATATATAT others(101): Show ATATATATATTTATATATATTTATATATATATTTATATATATTTATATAT ATATTTATATATATTTATATATATATTTATATATATTTATATATATATTT ATATATATT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0090 a0001c0001t0002g0090	1	94	0.0106	108	c.-2+ others(125): Show c.-2+56148_-2+56149insAATATATATAAATATATATATAAATATA TATAAATATATATATAAATATATATAAATATATATATAAATATATATAAA TATATATATAAATATATATAAATATATATA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
CPNE7_chr16_89570758_89602246	89587332	C C	CCCGCCCC others(101): Show CCCGCCCCGCCCCGCCCCCTCAGTCCGTGGCCCCGCCCCCCTCCACACCG GGACCCGCCCCCCGCCCACCCGGAGGAGGAACCAGGCCAGATACCTGGAG TCCCCCCCG	intron_variant intron_variant	MODIFIER	HG02155.hp2 NA18940.hp1 NA18952.hp2 others(2): Show HG02155.hp2 NA18940.hp1 NA18952.hp2 NA19030.hp2 NA19080.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0002c0003 a0003c0006 a0001c0002 a0002c0003 a0003c0006	a0001c0002t0007 a0001c0002t0013 a0002c0003t0007 others(1): Show a0001c0002t0007 a0001c0002t0013 a0002c0003t0007 a0003c0006t0003	a0001c0002t0007g0234 a0001c0002t0007g0235 a0001c0002t0013g0194 others(2): Show a0001c0002t0007g0234 a0001c0002t0007g0235 a0001c0002t0013g0194 a0002c0003t0007g0298 a0003c0006t0003g0145	5	348	0.0144	108	c.927 others(123): Show c.927+237_927+238insGCCCCGCCCCCTCAGTCCGTGGCCCCGCCC CCCTCCACACCGGGACCCGCCCCCCGCCCACCCGGAGGAGGAACCAGGCC AGATACCTGGAGTCCCCCCCGCCGCCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89597818	T T	TGTCCACC others(101): Show TGTCCACCCATCCGTCCATCCATCCCCCCACCCACCCATCTGTCCACCCA TCCATCCACCCATCCCCCCACCCACCCATCCGTCCATCCATCCCCCCGCC CACCCATCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG02155.hp1 HG04199.hp2 others(1): Show HG01891.hp1 HG02155.hp1 HG04199.hp2 NA18942.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0005 a0006c0014 a0001c0001 a0001c0005 a0006c0014	a0001c0001t0001 a0001c0005t0002 a0006c0014t0001 a0001c0001t0001 a0001c0005t0002 a0006c0014t0001	a0001c0001t0001g0040 a0001c0001t0001g0203 a0001c0005t0002g0310 others(1): Show a0001c0001t0001g0040 a0001c0001t0001g0203 a0001c0005t0002g0310 a0006c0014t0001g0008	4	348	0.0115	108	c.11 others(119): Show c.1197_*1198insGTCCACCCATCCGTCCATCCATCCCCCCACCCAC CCATCTGTCCACCCATCCATCCACCCATCCCCCCACCCACCCATCCGTCC ATCCATCCCCCCGCCCACCCATCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding		573		chr16	TogoVar
CPNE7_chr16_89570758_89602246	89597818	T T	TGTCCACC others(101): Show TGTCCACCCATCCGTCCATCCATCCCCCCACCCACCCATCTGTCCACCCA TCCGTCCACCCATCCCCCCACCCACCCATCCGTCCATCCATCCCCCCGCC CACCCGTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00544.hp2 HG00597.hp2 others(56): Show HG00438.hp2 HG00544.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG02071.hp1 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02155.hp2 HG02165.hp2 HG03927.hp1 NA18612.hp1 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18952.hp1 NA18952.hp2 NA18959.hp1 NA18959.hp2 NA18964.hp1 NA18970.hp1 NA18977.hp1 NA18977.hp2 NA18980.hp2 NA18983.hp1 NA18990.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19004.hp2 NA19005.hp1 NA19009.hp2 NA19011.hp2 NA19012.hp1 NA19055.hp1 NA19057.hp2 NA19064.hp2 NA19065.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp2 NA19087.hp1 NA19087.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0011	a0001c0002 a0002c0003 a0002c0017 others(2): Show a0001c0002 a0002c0003 a0002c0017 a0003c0006 a0011c0016	a0001c0002t0003 a0001c0002t0007 a0002c0003t0003 others(4): Show a0001c0002t0003 a0001c0002t0007 a0002c0003t0003 a0002c0003t0007 a0002c0017t0003 a0003c0006t0003 a0011c0016t0003	a0001c0002t0003g0018 a0001c0002t0003g0031 a0001c0002t0003g0033 others(56): Show a0001c0002t0003g0018 a0001c0002t0003g0031 a0001c0002t0003g0033 a0001c0002t0003g0034 a0001c0002t0003g0044 a0001c0002t0003g0047 a0001c0002t0003g0048 a0001c0002t0003g0049 a0001c0002t0003g0053 a0001c0002t0003g0076 a0001c0002t0003g0143 a0001c0002t0003g0180 a0001c0002t0003g0181 a0001c0002t0003g0192 a0001c0002t0003g0206 a0001c0002t0003g0211 a0001c0002t0003g0229 a0001c0002t0003g0233 a0001c0002t0003g0236 a0001c0002t0003g0272 a0001c0002t0003g0290 a0001c0002t0003g0313 a0001c0002t0007g0234 a0001c0002t0007g0235 a0002c0003t0003g0073 a0002c0003t0003g0111 a0002c0003t0003g0113 a0002c0003t0003g0114 a0002c0003t0003g0116 a0002c0003t0003g0122 a0002c0003t0003g0124 a0002c0003t0003g0125 a0002c0003t0003g0126 a0002c0003t0003g0128 a0002c0003t0003g0129 a0002c0003t0003g0130 a0002c0003t0003g0135 a0002c0003t0003g0138 a0002c0003t0003g0139 a0002c0003t0003g0152 a0002c0003t0003g0170 a0002c0003t0003g0207 a0002c0003t0003g0208 a0002c0003t0007g0298 a0002c0017t0003g0136 a0003c0006t0003g0144 a0003c0006t0003g0145 a0003c0006t0003g0146 a0003c0006t0003g0148 a0003c0006t0003g0149 a0003c0006t0003g0168 a0003c0006t0003g0230 a0003c0006t0003g0231 a0003c0006t0003g0232 a0003c0006t0003g0268 a0003c0006t0003g0274 a0003c0006t0003g0275 a0003c0006t0003g0342 a0011c0016t0003g0112	59	348	0.1695	108	c.11 others(119): Show c.1197_*1198insGTCCACCCATCCGTCCATCCATCCCCCCACCCAC CCATCTGTCCACCCATCCGTCCACCCATCCCCCCACCCACCCATCCGTCC ATCCATCCCCCCGCCCACCCGTCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding		573		chr16	TogoVar
CSMD1_chr8_2930361_4999914	3354875	A A	ATATCTAT others(101): Show ATATCTATAGATATGTCTATCTATAGATCTATAGATATGTCTATCTATAG ATCTATCTATAGATATGTCTATCTATAGATCTATCTATAGATATGTCTAT CTATAGATC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0002 a0002	a0002c0031 a0002c0031	a0002c0031t0015 a0002c0031t0015	a0002c0031t0015g0001 a0002c0031t0015g0001	1	126	0.0079	108	c.330 others(127): Show c.3304+4276_3304+4277insGATCTATAGATAGACATATCTATAGA TAGATCTATAGATAGACATATCTATAGATAGATCTATAGATAGACATATC TATAGATCTATAGATAGACATATCTATAGATA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	21/69			chr8	TogoVar
CSNK1G2_chr19_1936172_1986338	1967699	C C	CACCACCC others(101): Show CACCACCCTTCAGTTCTGCAGGTGGGGCTCCTCCCTCCTCCCTTCTCCCC AGGCTGCCCCCGACCACCCTTCAGTTCTGCAGGTGGGGCTCCTCCCCAGG CTGCCCCCG	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG01243.hp2 HG01168.hp1 HG01169.hp1 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0113 a0001c0001t0006g0142 a0001c0001t0006g0143 a0001c0001t0001g0113 a0001c0001t0006g0142 a0001c0001t0006g0143	3	382	0.0079	108	c.-26 others(127): Show c.-265-1776_-265-1775insCTCCTCCCTTCTCCCCAGGCTGCCCC CGACCACCCTTCAGTTCTGCAGGTGGGGCTCCTCCCCAGGCTGCCCCCGA CCACCCTTCAGTTCTGCAGGTGGGGCTCCTCC	CSNK1G2	ENSG00000133275.16	transcript	ENST00000255641.13	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
CTNND1_chr11_57756802_57824540	57794018	G G	GTTTGTGG others(101): Show GTTTGTGGGCGATGCTGACCTTGAAAGACAGAAATTTTCAGATTTGAAAC TCAACGGACCCCAGGTAATTCTTTGGCTCAAGACCTGGGTTGCTTCATTC ATATTTTCT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0003 a0008c0013t0003	a0008c0013t0003g0223 a0008c0013t0003g0223	1	288	0.0035	108	c.206 others(118): Show c.206_267+46dupTTGTGGGCGATGCTGACCTTGAAAGACAGAAATTT TCAGATTTGAAACTCAACGGACCCCAGGTAATTCTTTGGCTCAAGACCTG GGTTGCTTCATTCATATTTTCTT	CTNND1	ENSG00000198561.16	transcript	ENST00000399050.10	protein_coding	4/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
CTNS_chr17_3631760_3668103	3656157	T T	TTCCACCC others(101): Show TTCCACCCCCGCCAGCCCTCACCCCCTGCCATGCCCCTCCACCCCCGCCA GCCCTCACCCCCTGCCATGCCCCTCCACCCCCGCCAGCCCTCACCCCCTG CCATGCCCC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02615.hp1 HG03130.hp1 others(1): Show HG02559.hp2 HG02615.hp1 HG03130.hp1 HG03579.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0008 a0003c0005t0008	a0003c0005t0008g0041 a0003c0005t0008g0042 a0003c0005t0008g0043 others(1): Show a0003c0005t0008g0041 a0003c0005t0008g0042 a0003c0005t0008g0043 a0003c0005t0008g0044	4	372	0.0108	108	c.462 others(123): Show c.462-280_462-279insCCCTCACCCCCTGCCATGCCCCTCCACCCC CGCCAGCCCTCACCCCCTGCCATGCCCCTCCACCCCCGCCAGCCCTCACC CCCTGCCATGCCCCTCCACCCCCGCCAG	CTNS	ENSG00000040531.16	transcript	ENST00000046640.9	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
CTSS_chr1_150725188_150770778	150744185	T T	TATTATAT others(101): Show TATTATATATTATATGTATATTATGTATACATAATATTTATATATTATAT GTATATTATGTATACATAATATATTATATATTATATGTATATTATGTATA CATAATATA	intron_variant intron_variant	MODIFIER	HG03710.hp2 NA19010.hp2 HG03710.hp2 NA19010.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0050 a0002c0002t0002g0101 a0002c0002t0002g0050 a0002c0002t0002g0101	2	344	0.0058	108	c.896 others(125): Show c.896+3591_896+3592insTATATTATGTATACATAATATACATATA ATATATAATATATTATGTATACATAATATACATATAATATATAAATATTA TGTATACATAATATACATATAATATATAAT	CTSS	ENSG00000163131.12	transcript	ENST00000368985.8	protein_coding	7/7			chr1	TogoVar
CTSS_chr1_150725188_150770778	150744220	T T	TTTATATA others(101): Show TTTATATATTATATGTATATTATGTATACATAATATATTATATATTATAT GTATATTATGTATACATAATATATTATATATTATATGTATATTATGTATA CATAATATA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0059 a0002c0002t0005g0059	1	344	0.0029	108	c.896 others(125): Show c.896+3556_896+3557insTATATTATGTATACATAATATACATATA ATATATAATATATTATGTATACATAATATACATATAATATATAATATATT ATGTATACATAATATACATATAATATATAA	CTSS	ENSG00000163131.12	transcript	ENST00000368985.8	protein_coding	7/7			chr1	TogoVar
CYLC1_chrX_83856146_83891698	83878338	T T	TATATAAA others(101): Show TATATAAATATATAAATATATATAAATATATATAAATATATATAAATATA TATATAAATATATATAAATATATATAAATATATATATAAATATATATAAA TATATATAA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02922.hp2 HG02647.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0178 a0001c0001t0001g0180	2	208	0.0096	108	c.192 others(127): Show c.1923+3710_1923+3711insTAAATATATAAATATATATAAATATA TATAAATATATATAAATATATATATAAATATATATAAATATATATAAATA TATATATAAATATATATAAATATATATAAATA	CYLC1	ENSG00000183035.13	transcript	ENST00000329312.5	protein_coding	4/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
CYP4F11_chr19_15907377_15939529	15912733	G G	GTATATGT others(101): Show GTATATGTATATATGTGTGTGTGTGTGTGTATATATATATGTGTGTGTGT GTGTATATATGTATATGTGTGTGTGTGTGTGTATATATATATGTGTGTGT GTGTGTGTA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0155 a0002c0001t0155	a0002c0001t0155g0377 a0002c0001t0155g0377	1	386	0.0026	108	c.99 others(117): Show c.998_*999insTACACACACACACACACATATATATATACACACACA CACACACATATACATATATACACACACACACACATATATATATACACACA CACACACACATATATACATATA	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	12/12	998		chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15912771	G G	GTGTATAT others(101): Show GTGTATATATGTATATGTGTGTGTGTGTGTGTATATATATATATGTGTGT GTGTGTGTGTATATATGTATATATGTGTGTGTGTGTGTGTATGTATGTGT ATATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0184 a0002c0001t0184	a0002c0001t0184g0361 a0002c0001t0184g0361	1	386	0.0026	108	c.96 others(117): Show c.960_*961insTATATATATACACATACATACACACACACACACACA TATATACATATATACACACACACACACACATATATATATATACACACACA CACACACATATACATATATACA	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	12/12	960		chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15912771	G G	GTGTATAT others(101): Show GTGTATATATGTATATGTGTGTGTGTGTGTGTGTATATATATATATGTGT GTGTGTGTGTGTATATATGTATATATGTGTGTGTGTGTGTGTATGTATGT GTATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0175 a0002c0001t0175	a0002c0001t0175g0324 a0002c0001t0175g0324	1	386	0.0026	108	c.96 others(117): Show c.960_*961insTATATATACACATACATACACACACACACACACATA TATACATATATACACACACACACACACATATATATATATACACACACACA CACACACATATACATATATACA	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	12/12	960		chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15912771	G G	GTGTGTAT others(101): Show GTGTGTATATATGTATATGTGTGTGTGTGTGTGTATATATATATATGTGT GTGTGTGTGTATATATGTATATATGTGTGTGTGTGTGTGTATGTATGTGT ATATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0185 a0002c0001t0185	a0002c0001t0185g0368 a0002c0001t0185g0368	1	386	0.0026	108	c.96 others(117): Show c.960_*961insTATATATATACACATACATACACACACACACACACA TATATACATATATACACACACACACACATATATATATATACACACACACA CACACATATACATATATACACA	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	12/12	960		chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15912771	G G	GTGTGTAT others(101): Show GTGTGTATATATGTATATGTGTGTGTGTGTGTGTATATATATATATGTGT GTGTGTGTGTGTATATATGTATATATGTGTGTGTGTGTGTGTATGTATGT GTATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01168.hp2 HG02258.hp1 HG02486.hp2 others(4): Show HG01168.hp2 HG02258.hp1 HG02486.hp2 HG03239.hp1 HG04184.hp2 NA19084.hp2 NA19240.hp2	a0002 a0004 a0002 a0004	a0002c0001 a0004c0007 a0002c0001 a0004c0007	a0002c0001t0057 a0002c0001t0176 a0002c0001t0177 others(1): Show a0002c0001t0057 a0002c0001t0176 a0002c0001t0177 a0004c0007t0031	a0002c0001t0057g0338 a0002c0001t0057g0353 a0002c0001t0176g0365 others(4): Show a0002c0001t0057g0338 a0002c0001t0057g0353 a0002c0001t0176g0365 a0002c0001t0177g0321 a0004c0007t0031g0201 a0004c0007t0031g0207 a0004c0007t0031g0209	7	386	0.0181	108	c.96 others(117): Show c.960_*961insTATATATACACATACATACACACACACACACACATA TATACATATATACACACACACACACACATATATATATATACACACACACA CACACATATACATATATACACA	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	12/12	960		chr19	TogoVar
CYP4F3_chr19_15635897_15667825	15650713	T T	TTTCTTTC others(101): Show TTTCTTTCTTTTCCTTCCTTCCATCTTTCTTTCTTTCTTTTTCTTTCGTT CTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTCTCTCTTCTCTTTCTTT CTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG03540.hp2 HG03704.hp2 others(4): Show HG01175.hp1 HG03540.hp2 HG03704.hp2 NA18947.hp1 NA18965.hp2 NA19004.hp1 NA19057.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0006 a0001c0002 a0003c0006	a0001c0002t0001 a0003c0006t0001 a0001c0002t0001 a0003c0006t0001	a0001c0002t0001g0328 a0001c0002t0001g0337 a0001c0002t0001g0387 others(4): Show a0001c0002t0001g0328 a0001c0002t0001g0337 a0001c0002t0001g0387 a0001c0002t0001g0388 a0003c0006t0001g0323 a0003c0006t0001g0324 a0003c0006t0001g0325	7	424	0.0165	108	c.918 others(123): Show c.918+540_918+541insTCCTTCCTTCCATCTTTCTTTCTTTCTTTT TCTTTCGTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTCTCTCTTC TCTTTCTTTCTTTCTTTCTTCTTTCTTT	CYP4F3	ENSG00000186529.16	transcript	ENST00000221307.13	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
CYP4F3_chr19_15635897_15667825	15650721	T T	TTTCTTTT others(101): Show TTTCTTTTCCTTCCTTCCATCTTTCTTTCTTTCTTTTTCTTTCGTTCTTT CTTTCTTTCTTTCTTCTTTCTTTCTTTCTCTCTCTTCTCTTTCTTTCTTT CTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0045 a0001c0002t0045	a0001c0002t0045g0377 a0001c0002t0045g0377	1	424	0.0024	108	c.918 others(123): Show c.918+544_918+545insTCCTTCCTTCCATCTTTCTTTCTTTCTTTT TCTTTCGTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTCTCTCTTC TCTTTCTTTCTTTCTTTCTTTCTTCTTT	CYP4F3	ENSG00000186529.16	transcript	ENST00000221307.13	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
CYTH3_chr7_6156779_6277624	6259769	A A	AATATATA others(101): Show AATATATATATATAATATATATATATAATATATATATATAATATATATAT TATATATATATATTATATATATATAATATATATATATAATATATATATAA TATATATAT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0315 a0001c0001t0039g0315	1	348	0.0029	108	c.34+ others(125): Show c.34+12704_34+12705insATATATATATTATATATATATTATATAT ATATATTATATATATATAATATATATATATAATATATATATTATATATAT ATATTATATATATATATTATATATATATAT	CYTH3	ENSG00000008256.17	transcript	ENST00000350796.8	protein_coding	1/12			chr7	TogoVar
CYTH3_chr7_6156779_6277624	6259796	T T	TAATATAT others(101): Show TAATATATATATATAATATATATATAATATATATATTATATATATATAAT ATATATATATAATATATATATAATATATATATAATATATATATATATAAT ATATATATA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02970.hp1 HG02109.hp2 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0322 a0001c0001t0008g0323 a0001c0001t0008g0322 a0001c0001t0008g0323	2	348	0.0058	108	c.34+ others(125): Show c.34+12677_34+12678insTATATATATATTATATATATATATATTA TATATATATTATATATATATTATATATATATATTATATATATATAATATA TATATTATATATATATTATATATATATATT	CYTH3	ENSG00000008256.17	transcript	ENST00000350796.8	protein_coding	1/12			chr7	TogoVar
DAGLB_chr7_6404129_6452954	6421307	T T	TCAGGCAG others(101): Show TCAGGCAGCGCGGGAGGCGCAGGCAGCGCGGGAGGCGCAGGCAGCGCGGG AGGCGCAGGCAGCGCGGGAGGCGCAGGCAGCGCGGGAGGCGCAGGCAGCG CGGGAGGCG	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18973.hp1 NA18972.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0010 a0001c0001t0003 a0001c0001t0010	a0001c0001t0003g0189 a0001c0001t0010g0289 a0001c0001t0003g0189 a0001c0001t0010g0289	2	380	0.0053	108	c.121 others(125): Show c.1218+312_1218+419dupCGCCTCCCGCGCTGCCTGCGCCTCCCGC GCTGCCTGCGCCTCCCGCGCTGCCTGCGCCTCCCGCGCTGCCTGCGCCTC CCGCGCTGCCTGCGCCTCCCGCGCTGCCTG	DAGLB	ENSG00000164535.15	transcript	ENST00000297056.11	protein_coding	9/14			chr7	TogoVar
DBNDD1_chr16_89999871_90024456	90003477	A A	ACGTGCAC others(101): Show ACGTGCACGTGGGGCGGGACTTCTGTGACTCCCTCCCCCGGCCCGGGCCA CCTTTACGTGCACGTGGGGCGGGACTTCTGTGACTCCCTCCCCTGGCCCG GGCCACCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	412	0.0024	108	c.28 others(119): Show c.2857_*2858insAAGGTGGCCCGGGCCAGGGGAGGGAGTCACAGAA GTCCCGCCCCACGTGCACGTAAAGGTGGCCCGGGCCGGGGGAGGGAGTCA CAGAAGTCCCGCCCCACGTGCACG	DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding		1393		chr16	TogoVar
DBNDD1_chr16_89999871_90024456	90003587	A A	ACGTGCAC others(101): Show ACGTGCACGTGGGGCGGGACTTCTGTGACTCCCTCCCCCGGCCCGGGCCA CCTTTACGTGCACGTGGGGCGGGACTTCTTTGACTCCCTCCCCCAGCCCG GGCCACCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0240 a0001c0001t0002g0240	1	412	0.0024	108	c.27 others(119): Show c.2747_*2748insAAGGTGGCCCGGGCTGGGGGAGGGAGTCAAAGAA GTCCCGCCCCACGTGCACGTAAAGGTGGCCCGGGCCGGGGGAGGGAGTCA CAGAAGTCCCGCCCCACGTGCACG	DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding		1283		chr16	TogoVar
DBNDD1_chr16_89999871_90024456	90003587	A A	ACGTGCAC others(101): Show ACGTGCACGTGGGGCGGGACTTCTGTGACTCCCTCCCCTGGCCCGGGCCA CCTTTACGTGCACGTGGGGCGGGACTTCTGTGACTCCCTCCCCCAGCCCG GGCCACCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	412	0.0024	108	c.27 others(119): Show c.2747_*2748insAAGGTGGCCCGGGCTGGGGGAGGGAGTCACAGAA GTCCCGCCCCACGTGCACGTAAAGGTGGCCCGGGCCAGGGGAGGGAGTCA CAGAAGTCCCGCCCCACGTGCACG	DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding		1283		chr16	TogoVar
DCLK1_chr13_35763652_36136382	35958131	A A	ACTGTAAC others(101): Show ACTGTAACCATCACCACCACCACTGCTATAACCACCACCACCACCACTAT AACCATCACCACCATCACCACCACCACTACCACTACTATAACCATCACCA CCATCACTG	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0078 a0001c0004t0001g0078	1	230	0.0044	108	c.724 others(127): Show c.724-10675_724-10674insCAGTGATGGTGGTGATGGTTATAGTA GTGGTAGTGGTGGTGGTGATGGTGGTGATGGTTATAGTGGTGGTGGTGGT GGTTATAGCAGTGGTGGTGGTGATGGTTACAG	DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	3/16			chr13	TogoVar
DDR2_chr1_162627464_162792405	162727099	A A	AAAATATA others(101): Show AAAATATAAACATATATTTATATTTTGTAAATATAAACATATATTTATAT TTTGTAAATATAAACATATATTTATATTTTGTAAATATAAACATATATTT ATATTTTGT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG03654.hp2 HG00099.hp1 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0030 a0001c0001t0002 a0001c0002t0030	a0001c0001t0002g0108 a0001c0002t0030g0237 a0001c0001t0002g0108 a0001c0002t0030g0237	2	302	0.0066	108	c.82+ others(123): Show c.82+8018_82+8125dupCATATATTTATATTTTGTAAATATAAACAT ATATTTATATTTTGTAAATATAAACATATATTTATATTTTGTAAATATAA ACATATATTTATATTTTGTAAATATAAA	DDR2	ENSG00000162733.19	transcript	ENST00000367921.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
DDX51_chr12_132131594_132149319	132136212	C C	CACGGTGC others(101): Show CACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTCC TCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCCGA GTGTGCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0031 a0006c0011t0031	a0006c0011t0031g0038 a0006c0011t0031g0038	1	334	0.0030	108	c.30 others(119): Show c.3059_*3060insTGGGCACACTCGGGGAGGTGGGAGGAGCGGGCAC CGTGGGCACACTCGGGGAGGTGGGAGGAGCGGGCACCGTGGGCACACTCG GGAGGTGGGAGGAGCGGGCACCGT	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		381		chr12	TogoVar
DENND6B_chr22_50304030_50332012	50312679	C C	CGGGGGCC others(101): Show CGGGGGCCATGGGGCTGACCCTGGGGATTGACAGGCGGGGGGCCATGGGG CTGACCCTGGGGATTGACAGGCGGGGGGCCATGGGGCTGACCCTGGGGAT TGACAGGCG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02109.hp1 HG02145.hp1 others(27): Show HG01891.hp1 HG02109.hp1 HG02145.hp1 HG02258.hp1 HG02280.hp2 HG02451.hp1 HG02622.hp2 HG02723.hp1 HG02886.hp1 HG02922.hp2 HG02976.hp1 HG03017.hp1 HG03130.hp2 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03579.hp2 NA18944.hp2 NA18945.hp1 NA18951.hp1 NA18974.hp2 NA18993.hp2 NA18999.hp1 NA19059.hp1 NA19240.hp1 NA20129.hp2	a0001 a0007 a0009 a0001 a0007 a0009	a0001c0004 a0001c0006 a0001c0010 others(2): Show a0001c0004 a0001c0006 a0001c0010 a0007c0022 a0009c0023	a0001c0004t0004 a0001c0006t0004 a0001c0006t0047 others(3): Show a0001c0004t0004 a0001c0006t0004 a0001c0006t0047 a0001c0010t0004 a0007c0022t0001 a0009c0023t0004	a0001c0004t0004g0168 a0001c0004t0004g0170 a0001c0004t0004g0176 others(27): Show a0001c0004t0004g0168 a0001c0004t0004g0170 a0001c0004t0004g0176 a0001c0004t0004g0177 a0001c0004t0004g0178 a0001c0004t0004g0179 a0001c0004t0004g0181 a0001c0004t0004g0182 a0001c0004t0004g0183 a0001c0004t0004g0184 a0001c0004t0004g0185 a0001c0004t0004g0186 a0001c0004t0004g0187 a0001c0004t0004g0188 a0001c0004t0004g0191 a0001c0004t0004g0267 a0001c0004t0004g0316 a0001c0004t0004g0317 a0001c0004t0004g0318 a0001c0004t0004g0319 a0001c0004t0004g0320 a0001c0006t0004g0035 a0001c0006t0004g0167 a0001c0006t0004g0172 a0001c0006t0004g0175 a0001c0006t0004g0190 a0001c0006t0047g0169 a0001c0010t0004g0266 a0007c0022t0001g0221 a0009c0023t0004g0180	30	326	0.0920	108	c.145 others(124): Show c.1458-162_1458-55dupCGCCTGTCAATCCCCAGGGTCAGCCCCAT GGCCCCCCGCCTGTCAATCCCCAGGGTCAGCCCCATGGCCCCCCGCCTGT CAATCCCCAGGGTCAGCCCCATGGCCCCC	DENND6B	ENSG00000205593.12	transcript	ENST00000413817.8	protein_coding	17/19			chr22	TogoVar
DENND6B_chr22_50304030_50332012	50312801	C C	CTGAACCT others(101): Show CTGAACCTGGGGATTGACAGGCGGGGGGCCATGGGGCTGACCCTGGGGAT TGACAGGCGGGGGGCCATGGGGCTGACCCTGGGGATTGACAGGCGGGGGG CCATGGGGA	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02080.hp2 HG02083.hp1 others(11): Show HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02155.hp2 HG03927.hp1 NA18971.hp2 NA18990.hp2 NA18993.hp1 NA19003.hp1 NA19004.hp2 NA19012.hp1 NA19074.hp2 NA19088.hp1 NA20805.hp2	a0003 a0003	a0003c0005 a0003c0017 a0003c0005 a0003c0017	a0003c0005t0005 a0003c0005t0046 a0003c0017t0005 a0003c0005t0005 a0003c0005t0046 a0003c0017t0005	a0003c0005t0005g0198 a0003c0005t0005g0199 a0003c0005t0005g0201 others(11): Show a0003c0005t0005g0198 a0003c0005t0005g0199 a0003c0005t0005g0201 a0003c0005t0005g0203 a0003c0005t0005g0205 a0003c0005t0005g0206 a0003c0005t0005g0207 a0003c0005t0005g0209 a0003c0005t0005g0210 a0003c0005t0005g0211 a0003c0005t0005g0212 a0003c0005t0005g0213 a0003c0005t0046g0202 a0003c0017t0005g0003	14	326	0.0429	108	c.145 others(125): Show c.1458-177_1458-176insTCCCCATGGCCCCCCGCCTGTCAATCCC CAGGGTCAGCCCCATGGCCCCCCGCCTGTCAATCCCCAGGGTCAGCCCCA TGGCCCCCCGCCTGTCAATCCCCAGGTTCA	DENND6B	ENSG00000205593.12	transcript	ENST00000413817.8	protein_coding	17/19			chr22	TogoVar
DENND6B_chr22_50304030_50332012	50312801	C C	CTGACCCT others(101): Show CTGACCCTGGGGATTGACAGGCGGGGGGCCATGAGGCTGACCCTGGGGAT TGACAGGCGGGGGGCCATGGGGCTGACCCTGGGGATTGACAGGCGGGGGG CCATGGGGA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02486.hp1 HG02723.hp2 others(7): Show HG02055.hp1 HG02486.hp1 HG02723.hp2 HG02895.hp1 HG02896.hp1 HG03540.hp2 HG06807.hp2 NA18906.hp1 NA19043.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0006 a0002c0002t0006 a0002c0002t0024 others(1): Show a0001c0003t0006 a0002c0002t0006 a0002c0002t0024 a0002c0002t0032	a0001c0003t0006g0015 a0002c0002t0006g0006 a0002c0002t0006g0007 others(7): Show a0001c0003t0006g0015 a0002c0002t0006g0006 a0002c0002t0006g0007 a0002c0002t0006g0010 a0002c0002t0006g0011 a0002c0002t0006g0012 a0002c0002t0006g0014 a0002c0002t0006g0017 a0002c0002t0024g0013 a0002c0002t0032g0009	10	326	0.0307	108	c.145 others(125): Show c.1458-177_1458-176insTCCCCATGGCCCCCCGCCTGTCAATCCC CAGGGTCAGCCCCATGGCCCCCCGCCTGTCAATCCCCAGGGTCAGCCTCA TGGCCCCCCGCCTGTCAATCCCCAGGGTCA	DENND6B	ENSG00000205593.12	transcript	ENST00000413817.8	protein_coding	17/19			chr22	TogoVar
DENND6B_chr22_50304030_50332012	50312801	C C	CTGACCCT others(101): Show CTGACCCTGGGGATTGACAGGCGGGGGGCCATGGGGCTGACCCTGGGGAT TGACAGGCGGGGGGCCATGGGGCTGACCCTGGGGATTGACAGGCGGGGGG CCATGGGGA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(77): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00544.hp2 HG00609.hp2 HG00621.hp1 HG00639.hp2 HG00735.hp2 HG01106.hp2 HG01109.hp1 HG01123.hp2 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01255.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01517.hp1 HG01517.hp2 HG01934.hp1 HG01975.hp1 HG01975.hp2 HG01993.hp1 HG02040.hp2 HG02080.hp1 HG02083.hp2 HG02132.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02602.hp2 HG02735.hp1 HG02809.hp1 HG03017.hp2 HG03239.hp1 HG03490.hp2 HG03492.hp2 HG03688.hp1 HG03834.hp2 HG03927.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp1 NA18612.hp1 NA18943.hp1 NA18943.hp2 NA18945.hp2 NA18950.hp2 NA18952.hp1 NA18954.hp2 NA18960.hp2 NA18966.hp1 NA18967.hp2 NA18970.hp2 NA18971.hp1 NA18990.hp1 NA18992.hp1 NA18997.hp2 NA19003.hp2 NA19005.hp1 NA19010.hp2 NA19054.hp1 NA19057.hp2 NA19064.hp1 NA19066.hp1 NA19066.hp2 NA19070.hp2 NA19074.hp1 NA19079.hp1 NA19079.hp2 NA19085.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 others(2): Show a0001c0001 a0001c0003 a0002c0002 a0002c0008 a0002c0015	a0001c0001t0001 a0001c0001t0035 a0001c0003t0001 others(8): Show a0001c0001t0001 a0001c0001t0035 a0001c0003t0001 a0001c0003t0016 a0002c0002t0001 a0002c0002t0010 a0002c0002t0015 a0002c0002t0019 a0002c0002t0037 a0002c0008t0001 a0002c0015t0001	a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 others(77): Show a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0035g0165 a0001c0003t0001g0215 a0001c0003t0001g0223 a0001c0003t0001g0225 a0001c0003t0001g0226 a0001c0003t0001g0227 a0001c0003t0001g0232 a0001c0003t0001g0233 a0001c0003t0001g0237 a0001c0003t0001g0239 a0001c0003t0001g0240 a0001c0003t0001g0246 a0001c0003t0001g0248 a0001c0003t0001g0250 a0001c0003t0001g0253 a0001c0003t0001g0258 a0001c0003t0016g0241 a0002c0002t0001g0216 a0002c0002t0001g0218 a0002c0002t0001g0219 a0002c0002t0001g0220 a0002c0002t0001g0235 a0002c0002t0001g0238 a0002c0002t0001g0242 a0002c0002t0001g0244 a0002c0002t0001g0251 a0002c0002t0001g0254 a0002c0002t0001g0261 a0002c0002t0001g0263 a0002c0002t0001g0264 a0002c0002t0001g0265 a0002c0002t0001g0268 a0002c0002t0001g0272 a0002c0002t0001g0275 a0002c0002t0001g0276 a0002c0002t0001g0280 a0002c0002t0001g0281 a0002c0002t0001g0285 a0002c0002t0001g0286 a0002c0002t0001g0288 a0002c0002t0001g0289 a0002c0002t0001g0290 a0002c0002t0001g0293 a0002c0002t0001g0294 a0002c0002t0001g0296 a0002c0002t0001g0299 a0002c0002t0001g0300 a0002c0002t0001g0302 a0002c0002t0001g0305 a0002c0002t0001g0306 a0002c0002t0001g0307 a0002c0002t0001g0308 a0002c0002t0001g0310 a0002c0002t0001g0311 a0002c0002t0001g0312 a0002c0002t0001g0314 a0002c0002t0001g0321 a0002c0002t0010g0277 a0002c0002t0010g0295 a0002c0002t0010g0297 a0002c0002t0015g0222 a0002c0002t0019g0292 a0002c0002t0019g0301 a0002c0002t0037g0282 a0002c0008t0001g0229 a0002c0008t0001g0230 a0002c0008t0001g0231 a0002c0008t0001g0243 a0002c0008t0001g0245 a0002c0008t0001g0257 a0002c0015t0001g0048 a0002c0015t0001g0089	80	326	0.2454	108	c.145 others(124): Show c.1457+90_1458-177dupTCCCCATGGCCCCCCGCCTGTCAATCCCC AGGGTCAGCCCCATGGCCCCCCGCCTGTCAATCCCCAGGGTCAGCCCCAT GGCCCCCCGCCTGTCAATCCCCAGGGTCA	DENND6B	ENSG00000205593.12	transcript	ENST00000413817.8	protein_coding	17/19			chr22	TogoVar
DGKB_chr7_14140049_14907751	14211618	T T	TTTTACTC others(101): Show TTTTACTCTCATGTTTTGTGATATTTACTCTCGTGTTTTGTGATTTTACT CTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATTTTACTCTCATGT TTTGTGATA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0016 a0001c0003t0005g0016	1	148	0.0068	108	c.212 others(129): Show c.2123-33468_2123-33467insTATCACAAAACATGAGAGTAAAAT CACAAAACATGAGAGTAAATATCACAAAACATGAGAGTAAAATCACAAAA CACGAGAGTAAATATCACAAAACATGAGAGTAAA	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DGKB_chr7_14140049_14907751	14212142	G G	GTGTTTTG others(101): Show GTGTTTTGTGATATTTACTCTCGTGTTTTGTGATATTTACTCTCATGTTT TGTGATATTTACTCTCGTGTTTTGTGATTTTACTCTCGTGTTTTGTGATT TTACTCTCA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0016 a0001c0003t0005g0016	1	148	0.0068	108	c.212 others(129): Show c.2123-33992_2123-33991insTGAGAGTAAAATCACAAAACACGA GAGTAAAATCACAAAACACGAGAGTAAATATCACAAAACATGAGAGTAAA TATCACAAAACACGAGAGTAAATATCACAAAACA	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DGKB_chr7_14140049_14907751	14212206	G G	GTGTTTTG others(101): Show GTGTTTTGTGATATTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTT GTGATATTTACTCTCATGTTTTGTGATTTTACTCTCGTGTTTTGTGATAT TTACTCTCA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0087 a0001c0003t0001g0087	1	148	0.0068	108	c.212 others(129): Show c.2123-34056_2123-34055insTGAGAGTAAATATCACAAAACACG AGAGTAAAATCACAAAACATGAGAGTAAATATCACAAAACATGAGAGTAA AATCACAAAACATGAGAGTAAATATCACAAAACA	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DGKB_chr7_14140049_14907751	14212408	T T	TTTTACTC others(101): Show TTTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATATTTACT CTCGTGTTTTGTGATATTTACTCTCATGTTTTGTGATTTTACTCTCATGT TTTGTGATA	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	148	0.0068	108	c.212 others(129): Show c.2123-34258_2123-34257insTATCACAAAACATGAGAGTAAAAT CACAAAACATGAGAGTAAATATCACAAAACACGAGAGTAAATATCACAAA ACATGAGAGTAAAATCACAAAACATGAGAGTAAA	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DHRSX_chrX_2214506_2505976	2228325	G G	GAGGAAGG others(101): Show GAGGAAGGAAGGAAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGAAGGGA GGGAGGAAGGGAGGGAGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGG GAGGGAGGA	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0002 a0002c0002t0003g0002	1	50	0.0200	108	c.805 others(125): Show c.805-7097_805-7096insTCCTCCCTCCCTCCCTCCCTCCCTCCCT TCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTTCCTCCCTTC CTCCCTTCCTCCCTTCCTTCCTTCCTTCCT	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	6/6			chrX	TogoVar
DHRSX_chrX_2214506_2505976	2314496	A A	AAAGAGGG others(101): Show AAAGAGGGAAGGAGGGAGGGAGGGAGGGAGGGAAAGGAGGGAGGGAGGGA GGGAAGCAGGGAAGGAGGGAGGGAGGGAGGGAAGGAGGGAGGGAGGGAGG GAAGGAGGG	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0004 a0005c0006t0004	a0005c0006t0004g0034 a0005c0006t0004g0034	1	50	0.0200	108	c.287 others(127): Show c.287-22894_287-22893insCCCTCCTTCCCTCCCTCCCTCCCTCC TTCCCTCCCTCCCTCCCTCCTTCCCTGCTTCCCTCCCTCCCTCCCTCCTT TCCCTCCCTCCCTCCCTCCCTCCTTCCCTCTT	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	3/6			chrX	TogoVar
DHX58_chr17_42096411_42117714	42106635	T T	TAAAAATA others(101): Show TAAAAATACAAAAAAATAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00639.hp1 others(8): Show HG00099.hp2 HG00323.hp2 HG00639.hp1 HG00642.hp1 HG00741.hp2 HG01255.hp1 HG01516.hp2 HG01517.hp2 HG02109.hp1 HG02148.hp1 NA19001.hp2	a0002 a0005 a0002 a0005	a0002c0002 a0005c0005 a0002c0002 a0005c0005	a0002c0002t0001 a0005c0005t0002 a0005c0005t0004 a0002c0002t0001 a0005c0005t0002 a0005c0005t0004	a0002c0002t0001g0103 a0005c0005t0002g0010 a0005c0005t0002g0066 others(2): Show a0002c0002t0001g0103 a0005c0005t0002g0010 a0005c0005t0002g0066 a0005c0005t0004g0067 a0005c0005t0004g0068	11	352	0.0313	108	c.998 others(123): Show c.998-647_998-646insTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTATTTTTTTGTATTTTT	DHX58	ENSG00000108771.13	transcript	ENST00000251642.8	protein_coding	8/13			chr17	TogoVar
DIP2C_chr10_269201_694668	300735	C C	CGCGGCCC others(101): Show CGCGGCCCTGAGCGTGTGGAGAAGCCGGAACCCAGGCGCGGCCCTGAGCG TGTGGAGAAGCCGGAACCCAGGCGCGGCCCTGAGCGTGTGGAGAAGCCGG AACCCAGGG	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0002 a0001c0013t0002	a0001c0013t0002g0035 a0001c0013t0002g0035	1	88	0.0114	108	c.398 others(127): Show c.3986+9295_3986+9296insCCCTGGGTTCCGGCTTCTCCACACGC TCAGGGCCGCGCCTGGGTTCCGGCTTCTCCACACGCTCAGGGCCGCGCCT GGGTTCCGGCTTCTCCACACGCTCAGGGCCGC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	32/36			chr10	TogoVar

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Search Results (Total: 10000 hits)