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
PCDHGA2_chr5_141333760_141517975	141407491	A A	ATTTCTGT others(202): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCA GCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAAT TTTTTGCATT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	272	0.0037	209	c.242 others(230): Show c.2424+66110_2424+66111insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAG TGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATT CTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTAC GCCCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGA2	ENSG00000081853.15	transcript	ENST00000394576.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA3_chr5_141338829_141517975	141407491	A A	ATTTCTGT others(202): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCA GCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAAT TTTTTGCATT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0232	1	270	0.0037	209	c.242 others(230): Show c.2424+61048_2424+61049insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAG TGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATT CTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTAC GCCCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGA3	ENSG00000254245.3	transcript	ENST00000253812.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA4_chr5_141350021_141517975	141407491	A A	ATTTCTGT others(202): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCA GCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAAT TTTTTGCATT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	274	0.0037	209	c.251 others(230): Show c.2514+49884_2514+49885insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAG TGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATT CTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTAC GCCCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGA4	ENSG00000262576.3	transcript	ENST00000571252.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA5_chr5_141359162_141517975	141407491	A A	ATTTCTGT others(202): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCA GCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAAT TTTTTGCATT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	292	0.0034	209	c.242 others(230): Show c.2421+40754_2421+40755insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAG TGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATT CTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTAC GCCCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGA5	ENSG00000253485.3	transcript	ENST00000518069.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA6_chr5_141368891_141517975	141407491	A A	ATTTCTGT others(202): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCA GCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAAT TTTTTGCATT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0062 a0001c0004t0001g0062	1	292	0.0034	209	c.242 others(230): Show c.2424+30998_2424+30999insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAG TGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATT CTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTAC GCCCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGA6	ENSG00000253731.3	transcript	ENST00000517434.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA7_chr5_141377742_141517975	141407491	A A	ATTTCTGT others(202): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCA GCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAAT TTTTTGCATT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	292	0.0034	209	c.242 others(230): Show c.2424+22182_2424+22183insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAG TGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATT CTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTAC GCCCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGA7	ENSG00000253537.3	transcript	ENST00000518325.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA8_chr5_141387633_141517975	141407491	A A	ATTTCTGT others(202): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCA GCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAAT TTTTTGCATT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0302 a0001c0001t0001g0302	1	302	0.0033	209	c.242 others(230): Show c.2424+12268_2424+12269insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAG TGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATT CTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTAC GCCCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGA8	ENSG00000253767.3	transcript	ENST00000398604.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA9_chr5_141397778_141517975	141407491	A A	ATTTCTGT others(202): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCA GCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAAT TTTTTGCATT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0280 a0001c0005t0001g0280	1	302	0.0033	209	c.242 others(228): Show c.2424+2129_2424+2130insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTG GCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCT CCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGC CCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGA9	ENSG00000261934.3	transcript	ENST00000573521.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGB1_chr5_141345099_141517975	141407491	A A	ATTTCTGT others(202): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCA GCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAAT TTTTTGCATT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0160 a0001c0003t0001g0160	1	278	0.0036	209	c.240 others(230): Show c.2409+54836_2409+54837insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAG TGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATT CTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTAC GCCCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGB1	ENSG00000254221.3	transcript	ENST00000523390.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGB2_chr5_141354994_141517975	141407491	A A	ATTTCTGT others(202): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCA GCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAAT TTTTTGCATT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	288	0.0035	209	c.242 others(230): Show c.2421+44949_2421+44950insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAG TGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATT CTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTAC GCCCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGB2	ENSG00000253910.3	transcript	ENST00000522605.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGB3_chr5_141365242_141517975	141407491	A A	ATTTCTGT others(202): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCA GCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAAT TTTTTGCATT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0230	1	296	0.0034	209	c.241 others(230): Show c.2415+34696_2415+34697insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAG TGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATT CTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTAC GCCCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGB3	ENSG00000262209.3	transcript	ENST00000576222.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGB4_chr5_141382698_141517975	141407491	A A	ATTTCTGT others(202): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCA GCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAAT TTTTTGCATT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	294	0.0034	209	c.239 others(230): Show c.2397+17224_2397+17225insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAG TGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATT CTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTAC GCCCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGB4	ENSG00000253953.3	transcript	ENST00000519479.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGB5_chr5_141392947_141517975	141407491	A A	ATTTCTGT others(202): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCA GCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAAT TTTTTGCATT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0016 a0001c0001t0010g0016	1	300	0.0033	209	c.239 others(228): Show c.2397+6981_2397+6982insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTG GCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCT CCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGC CCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGB5	ENSG00000276547.2	transcript	ENST00000617380.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGB6_chr5_141403021_141517975	141407491	A A	ATTTCTGT others(202): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCA GCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAAT TTTTTGCATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0089 a0002c0003t0001g0089	1	302	0.0033	209	c.-71 others(218): Show c.-712_-711insTTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGC AGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCA TTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACT ACGCCCGGCTAATTTTTTGCATT	PCDHGB6	ENSG00000253305.3	transcript	ENST00000520790.2	protein_coding		529		chr5	TogoVar
PCSK6_chr15_101298933_101494707	101493369	T T	TTCCCTCC others(202): Show TTCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCC TCCCCCTCCCCTCCCCCTCCCCCATCCCCTCCCCACTTCCCCTCCCTCTC CCCTGCCCTCCCCCCTCCCCCTCCCTCATCCCCTCCCCACTCCCCCTCCC CACTCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0115 a0001c0006t0001g0115	1	336	0.0030	209	c.-37 others(220): Show c.-3700_-3699insGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAG GGGGAGGGGGAGGGGGAGGGGGAGTGGGGAGGGGGAGTGGGGAGGGGATG AGGGAGGGGGAGGGGGGAGGGCAGGGGAGAGGGAGGGGAAGTGGGGAGGG GATGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAG GGGAGGGGGAGGGGGAGGGGAGGGA	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding		3663		chr15	TogoVar
PDCD6_chr5_266646_319974	318050	C C	CCTCCCCC others(202): Show CCTCCCCCCTCACCCTGCACCTCCCTTGCCCTGCACCTCCTCCCTCCCTC TCCCCCTCACCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCCC TTTCCACCTCCCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCCAC CTCCCCCCTCACCTCCCCCCTACACCTCCCCCCATCTTTTACCTCCCTCC CACCCTGCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0004 a0003c0005t0004	a0003c0005t0004g0306 a0003c0005t0004g0306	1	360	0.0028	209	c.35 others(220): Show c.3535_*3536insCTCCCCCCTCACCCTGCACCTCCCTTGCCCTGCA CCTCCTCCCTCCCTCTCCCCCTCACCCTGCACCTCCCCCCTCCACTCCCC CTCACCTCCCCCCCCTTTCCACCTCCCCCCTCCACCTCCCCCCTCACCTC CTCCCCAGCCTCCACCTCCCCCCTCACCTCCCCCCTACACCTCCCCCCAT CTTTTACCTCCCTCCCACCCTGCAT	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3077		chr5	TogoVar
PDIA2_chr16_278164_292215	285931	C C	CCCCAACC others(202): Show CCCCAACCCCAACACCAACCCCGCGGTTCTCCCAACCCCGCGGTTCTCCC AACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACC CCAACCCCAACACCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCA ACCCCAACCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACC CCGCGGTTCT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0008 a0008	a0008c0007 a0008c0007	a0008c0007t0001 a0008c0007t0001	a0008c0007t0001g0146 a0008c0007t0001g0146	1	436	0.0023	209	c.111 others(226): Show c.1119+240_1119+241insACCAACCCCGCGGTTCTCCCAACCCCGC GGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTT CTCCCAACCCCAACCCCAACACCAACCCCGCGGTTCTCCCAACCCCAACC CCAACCCCAACCCCAACCCCAACCCCAACCCCAACCCCGCGGTTCTCCCA ACCCCAACCCCGCGGTTCTCCCAACCCCAAC	PDIA2	ENSG00000185615.16	transcript	ENST00000219406.11	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PDIA2_chr16_278164_292215	285983	T T	TCCCAACC others(202): Show TCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCGCGGT TCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTC CCAACCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCA ACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCAACCCCAACCCCGCGG TTCTCCCAAC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0008 a0008	a0008c0007 a0008c0007	a0008c0007t0001 a0008c0007t0001	a0008c0007t0001g0141 a0008c0007t0001g0141	1	436	0.0023	209	c.111 others(226): Show c.1119+289_1119+290insAACCCCGCGGTTCTCCCAACCCCAACCC CAACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAAC CCCGCGGTTCTCCCAACCCCAACCCCAACCCCAACCCCGCGGTTCTCCCA ACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCAACC CCAACCCCGCGGTTCTCCCAACCCCAACCCC	PDIA2	ENSG00000185615.16	transcript	ENST00000219406.11	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PDIA6_chr2_10778391_10817785	10806628	C C	CAAAGAAA others(202): Show CAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGGAAAAGAAAAGAAAA AAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0198 a0002c0002t0001g0198	1	342	0.0029	209	c.20- others(224): Show c.20-3989_20-3988insTTCTTTCTTTTTTTCTTTTCTTTTCCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTT	PDIA6	ENSG00000143870.13	transcript	ENST00000272227.8	protein_coding	1/12			chr2	TogoVar
PGAM5_chr12_132705842_132727734	132727561	T T	TGCTGAAC others(202): Show TGCTGAACCCTGGCACCGCGCGGGCACATGCGCCCGGACGGAGGAGAGAC GCACTGCTGAACCCTGGCACCGTGGGCACACGCGCTCCGGGCGGAGGAGA GGCACTGCTGAACCCTTGGCACCCGCGGGCACACGCGCCCGGATGGAGGA GATGCACTGCTGAACCCTGGCACCGTGGGCACACGTGCCCGGAGCGGAGG AGAGGCACTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0189 a0001c0001t0003g0189	1	394	0.0025	209	c.67 others(220): Show c.6733_*6734insGCTGAACCCTGGCACCGCGCGGGCACATGCGCCC GGACGGAGGAGAGACGCACTGCTGAACCCTGGCACCGTGGGCACACGCGC TCCGGGCGGAGGAGAGGCACTGCTGAACCCTTGGCACCCGCGGGCACACG CGCCCGGATGGAGGAGATGCACTGCTGAACCCTGGCACCGTGGGCACACG TGCCCGGAGCGGAGGAGAGGCACTG	PGAM5	ENSG00000247077.8	transcript	ENST00000498926.7	protein_coding		4828		chr12	TogoVar
PHF3_chr6_63630802_63731011	63688231	C C	CCCCCCTC others(202): Show CCCCCCTCCCCTCCCCATCCCCTCCCACTCCGCTCGCCTCCCCTCCCCCT CCCCGTCCCTCTCCCATCCCCCTCCCTCTCCCATCCCCCTCCCATCCCCC TCCCCTCTCCCATCCCCCTCCCCTCTCCCATCCCCCTCCCCCTCCCCTCC CCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTTCCCCTCCC CTCCCCCCTT	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0002 a0001c0012t0002	a0001c0012t0002g0275 a0001c0012t0002g0275	1	320	0.0031	209	c.218 others(228): Show c.2189+2324_2189+2325insCTCCCCTCCCCATCCCCTCCCACTCC GCTCGCCTCCCCTCCCCCTCCCCGTCCCTCTCCCATCCCCCTCCCTCTCC CATCCCCCTCCCATCCCCCTCCCCTCTCCCATCCCCCTCCCCTCTCCCAT CCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCC CCTCCCCCCTTCCCCTCCCCTCCCCCCTTCCCC	PHF3	ENSG00000118482.12	transcript	ENST00000262043.8	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
PKHD1_chr6_51610299_52092613	51981333	C C	CCCTCTCC others(202): Show CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0024 a0024	a0024c0068 a0024c0068	a0024c0068t0001 a0024c0068t0001	a0024c0068t0001g0091 a0024c0068t0001g0091	1	134	0.0075	209	c.575 others(230): Show c.5752-21308_5752-21307insAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66			chr6	TogoVar
PLD4_chr14_104919879_104938236	104933704	G G	GGACGGGA others(202): Show GGACGGGAGGGGCCTGGGAGGGGAGCGGGGCTGAGGGGACGGGGAGGGCG GGAGGGGAGCGGGGGCTGAGGGGACGGGGAGGGCGGGAGGGGACCGGGGC TGAGTGAGGGGAGGGCGGGAGGGGACCCGCGTCTGAGGGGACCGGGGAGG GCGGGAGGCGACCCGGGGCTGAGTGAGGGGAGGGTGGGAGGGGAGCGGGG CTGAGGGGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0023 a0002c0002t0001g0023	1	426	0.0024	209	c.74 others(218): Show c.740_*741insGACGGGAGGGGCCTGGGAGGGGAGCGGGGCTGAGGG GACGGGGAGGGCGGGAGGGGAGCGGGGGCTGAGGGGACGGGGAGGGCGGG AGGGGACCGGGGCTGAGTGAGGGGAGGGCGGGAGGGGACCCGCGTCTGAG GGGACCGGGGAGGGCGGGAGGCGACCCGGGGCTGAGTGAGGGGAGGGTGG GAGGGGAGCGGGGCTGAGGGGAC	PLD4	ENSG00000166428.14	transcript	ENST00000392593.9	protein_coding		469		chr14	TogoVar
POLD1_chr19_50379347_50423014	50391110	A A	AGGCAGAG others(202): Show AGGCAGAGGGGCTCCTGACTTCCCAGACGGGGCAGCTGGGCAGAGGCTCC CCTCACCTCCCGGACGGGGTGGCTGGCCGAGCGGGGGCTGCCGGGCAGAG GGGCTCCTCACTGATCAGATGGGGCGGCTGGGCAGAGACGCTCCTCACCT CCCAGACGGGGTGGCGGTCGGGCAGAGACACTCCTCAGATCCCAGACGGG GTCGCGGCCG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02886.hp1 HG03139.hp1 others(1): Show HG01891.hp2 HG02886.hp1 HG03139.hp1 HG03453.hp1	a0002 a0002	a0002c0002 a0002c0015 a0002c0002 a0002c0015	a0002c0002t0001 a0002c0015t0001 a0002c0002t0001 a0002c0015t0001	a0002c0002t0001g0024 a0002c0002t0001g0055 a0002c0015t0001g0032 others(1): Show a0002c0002t0001g0024 a0002c0002t0001g0055 a0002c0015t0001g0032 a0002c0015t0001g0033	4	336	0.0119	209	c.-2+ others(224): Show c.-2+6728_-2+6729insGGCTCCTGACTTCCCAGACGGGGCAGCTGG GCAGAGGCTCCCCTCACCTCCCGGACGGGGTGGCTGGCCGAGCGGGGGCT GCCGGGCAGAGGGGCTCCTCACTGATCAGATGGGGCGGCTGGGCAGAGAC GCTCCTCACCTCCCAGACGGGGTGGCGGTCGGGCAGAGACACTCCTCAGA TCCCAGACGGGGTCGCGGCCGGGCAGAGG	POLD1	ENSG00000062822.16	transcript	ENST00000440232.7	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr19	TogoVar
POLD1_chr19_50379347_50423014	50391110	A A	AGGCAGAG others(202): Show AGGCAGAGGGGCTCCTGACTTCCCAGACGGGGCAGCTGGGCAGAGGCTCC CCTCACCTCCCGGACGGGGTGGCTGGCCGAGCGGGGGCTGCCGGGCAGAG GGGCTCCTCACTGATCAGATGGGGCGGCTGGGCAGAGACGCTCCTCACCT CCCAGACGGGGTGGCGGTCGGGCAGAGACACTCCTCAGATCCCAGATGGG GTCGCGGCCG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01891.hp1 HG02572.hp1 others(8): Show HG01109.hp2 HG01891.hp1 HG02572.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02723.hp1 HG02818.hp1 HG03041.hp1 HG03209.hp1 HG03486.hp2	a0003 a0003	a0003c0006 a0003c0012 a0003c0006 a0003c0012	a0003c0006t0001 a0003c0012t0001 a0003c0006t0001 a0003c0012t0001	a0003c0006t0001g0020 a0003c0006t0001g0034 a0003c0006t0001g0035 others(8): Show a0003c0006t0001g0020 a0003c0006t0001g0034 a0003c0006t0001g0035 a0003c0006t0001g0036 a0003c0006t0001g0037 a0003c0006t0001g0038 a0003c0006t0001g0040 a0003c0006t0001g0041 a0003c0012t0001g0039 a0003c0012t0001g0042 a0003c0012t0001g0043	11	336	0.0327	209	c.-2+ others(224): Show c.-2+6728_-2+6729insGGCTCCTGACTTCCCAGACGGGGCAGCTGG GCAGAGGCTCCCCTCACCTCCCGGACGGGGTGGCTGGCCGAGCGGGGGCT GCCGGGCAGAGGGGCTCCTCACTGATCAGATGGGGCGGCTGGGCAGAGAC GCTCCTCACCTCCCAGACGGGGTGGCGGTCGGGCAGAGACACTCCTCAGA TCCCAGATGGGGTCGCGGCCGGGCAGAGG	POLD1	ENSG00000062822.16	transcript	ENST00000440232.7	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr19	TogoVar
POLD1_chr19_50379347_50423014	50391110	A A	AGGCAGAG others(202): Show AGGCAGAGGGGCTCCTGACTTCCCAGACGGGGCAGCTGGGCAGAGGCTCC CCTCACCTCCCGGACGGGGTGGCTGGCCGAGCGGGGGCTGCCGGGCGGAG GGGCTCCTCACTGATCAGATGGGGCGGCTGGGCAGAGACGCTCCTCACCT CCCAGACGGGGTGGCGGTCGGGCAGAGACACTCCTCAGATCCCAGACGGG GTCGCGGCCG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02258.hp1 HG02280.hp1 others(7): Show HG01243.hp1 HG02258.hp1 HG02280.hp1 HG02451.hp1 HG02559.hp2 HG02647.hp2 HG02886.hp2 HG03130.hp2 HG03225.hp2 HG03486.hp1	a0001 a0003 a0011 a0001 a0003 a0011	a0001c0007 a0001c0013 a0003c0033 others(1): Show a0001c0007 a0001c0013 a0003c0033 a0011c0030	a0001c0007t0001 a0001c0013t0001 a0003c0033t0001 others(1): Show a0001c0007t0001 a0001c0013t0001 a0003c0033t0001 a0011c0030t0001	a0001c0007t0001g0001 a0001c0007t0001g0046 a0001c0007t0001g0047 others(5): Show a0001c0007t0001g0001 a0001c0007t0001g0046 a0001c0007t0001g0047 a0001c0007t0001g0048 a0001c0007t0001g0049 a0001c0013t0001g0099 a0003c0033t0001g0100 a0011c0030t0001g0101	10	336	0.0298	209	c.-2+ others(224): Show c.-2+6728_-2+6729insGGCTCCTGACTTCCCAGACGGGGCAGCTGG GCAGAGGCTCCCCTCACCTCCCGGACGGGGTGGCTGGCCGAGCGGGGGCT GCCGGGCGGAGGGGCTCCTCACTGATCAGATGGGGCGGCTGGGCAGAGAC GCTCCTCACCTCCCAGACGGGGTGGCGGTCGGGCAGAGACACTCCTCAGA TCCCAGACGGGGTCGCGGCCGGGCAGAGG	POLD1	ENSG00000062822.16	transcript	ENST00000440232.7	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr19	TogoVar
PPP1R12C_chr19_55085918_55122637	55096950	C C	CCACCGTC others(202): Show CCACCGTCTTCACCCCTTCCCTGCAGTTCACCACTGTCTTCGCCCCTTCC CCGCGCAGTTCACCACCGTCTTCACCCCTTCCCTGCAGTTCACCACTGTC TTCACCCCTTCCCTGCAGTTCACCACCGTCTTCGCCCCTTCCCCGCAGTT CACCACCGTCTTCACCCCTTCCCCGCAGTTCACCACCGTCTTCACCCCTT CCCTGCAGTT	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0074 a0001c0003t0001g0074	1	390	0.0026	209	c.952 others(224): Show c.952-616_952-615insAACTGCAGGGAAGGGGTGAAGACGGTGGTG AACTGCGGGGAAGGGGTGAAGACGGTGGTGAACTGCGGGGAAGGGGCGAA GACGGTGGTGAACTGCAGGGAAGGGGTGAAGACAGTGGTGAACTGCAGGG AAGGGGTGAAGACGGTGGTGAACTGCGCGGGGAAGGGGCGAAGACAGTGG TGAACTGCAGGGAAGGGGTGAAGACGGTG	PPP1R12C	ENSG00000125503.13	transcript	ENST00000263433.8	protein_coding	6/21			chr19	TogoVar
PRKX_chrX_3599340_3718649	3639300	G G	GGGGGGTG others(202): Show GGGGGGTGGATGGATGAAGGGTGGGTGGATGGATGATTGAATGAAGGGGT GGGGGTGGATGGATGAAGGGGTGGGGTGGTAGATGGATGAAGGGGTAGAG GGGTGGGGGGGTGGGGGGGTGGGTGCATGGATGGATGAAGGGGTGGGGGT GGATGGATGAAGGGGTGGGGGTGGATGGATGAAGGGGTGGGGGTGGATGG ATGAAGGGGT	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0021 a0001c0002t0021	a0001c0002t0021g0143 a0001c0002t0021g0143	1	227	0.0044	209	c.719 others(226): Show c.719+2551_719+2552insACCCCTTCATCCATCCACCCCCACCCCT TCATCCATCCACCCCCACCCCTTCATCCATCCACCCCCACCCCTTCATCC ATCCATGCACCCACCCCCCCACCCCCCCACCCCTCTACCCCTTCATCCAT CTACCACCCCACCCCTTCATCCATCCACCCCCACCCCTTCATTCAATCAT CCATCCACCCACCCTTCATCCATCCACCCCC	PRKX	ENSG00000183943.6	transcript	ENST00000262848.6	protein_coding	4/8			chrX	TogoVar
PRR5L_chr11_36291288_36470204	36351140	A A	ATATATTT others(202): Show ATATATTTATAAATATATGTATTTTATATATAAATATATATTTATAAATA TATGTATTTTATATATAAATATATATTTATAAATATATGTATTTTATATA TAAATATATATTTATAAATATATGTATTTTATATATAAATATATATTTAT AAATATATGTATTTTATATATAAATATATATTTATAAATATATGTATTTT ATATATAAAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02723.hp2 HG02965.hp1 others(3): Show HG02145.hp2 HG02723.hp2 HG02965.hp1 HG02976.hp2 HG03579.hp1 HG03579.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0003 a0002c0004 others(1): Show a0001c0001 a0001c0003 a0002c0004 a0005c0012	a0001c0001t0001 a0001c0001t0002 a0001c0003t0005 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0005 a0002c0004t0021 a0002c0004t0024 a0005c0012t0002	a0001c0001t0001g0067 a0001c0001t0002g0054 a0001c0003t0005g0056 others(3): Show a0001c0001t0001g0067 a0001c0001t0002g0054 a0001c0003t0005g0056 a0002c0004t0021g0055 a0002c0004t0024g0126 a0005c0012t0002g0125	6	272	0.0221	209	c.-12 others(230): Show c.-125-49840_-125-49839insGTATTTTATATATAAATATATATT TATAAATATATGTATTTTATATATAAATATATATTTATAAATATATGTAT TTTATATATAAATATATATTTATAAATATATGTATTTTATATATAAATAT ATATTTATAAATATATGTATTTTATATATAAATATATATTTATAAATATA TGTATTTTATATATAAATTATATTTATAAATATAT	PRR5L	ENSG00000135362.14	transcript	ENST00000530639.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
PSEN1_chr14_73131507_73228691	73189448	T T	TAAAAATA others(202): Show TAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCA GCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAG CTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0257 a0001c0001t0006g0257	1	378	0.0027	209	c.548 others(226): Show c.548+2554_548+2555insAGTGGCGGGCGCCTGTAGTCCCAGCTAC TTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGC AGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGA CTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAATACAAAAAATTAGCCGGGCGT	PSEN1	ENSG00000080815.20	transcript	ENST00000324501.10	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
PTK6_chr20_63523001_63542376	63535764	G G	GCCCCCCC others(202): Show GCCCCCCCCTCACCTGGCCTCCCGCCCCCTCCTCACCTGGCCTCCCGCCC CCTCCTCACCTGGCCTCCCGCCCCCCCCCTCACCTGGCCTCCCACCCCGT CCTCACCTGGCCTCCCGCACCCCCCTCACCTGGCCTCCCGCCCCCCCCTC ATCTGGCCTCCCGCCCCCTCCTCACCTGGCCTCCCGCCCCCTCCTCTCCT GGCCTCCCGC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0238 a0001c0002t0003g0238	1	344	0.0029	209	c.231 others(224): Show c.231-706_231-705insGCGGGAGGCCAGGAGAGGAGGGGGCGGGAG GCCAGGTGAGGAGGGGGCGGGAGGCCAGATGAGGGGGGGGCGGGAGGCCA GGTGAGGGGGGTGCGGGAGGCCAGGTGAGGACGGGGTGGGAGGCCAGGTG AGGGGGGGGGCGGGAGGCCAGGTGAGGAGGGGGCGGGAGGCCAGGTGAGG AGGGGGCGGGAGGCCAGGTGAGGGGGGGG	PTK6	ENSG00000101213.7	transcript	ENST00000542869.3	protein_coding	1/7			chr20	TogoVar
PTK6_chr20_63523001_63542376	63535950	G G	GCCCCCTC others(202): Show GCCCCCTCCTCTCCTGGCCTCCCGCCCCCCCCCTCACCTGGCCTCCCGCC CCCTCCTCACCTGGCCTCCCGCCCCCTCCTCACCTGGCCTCCCGCCCCCC CCCCTCACCTGGCCTCCCGCCCCCTCCTCACCTGGCCTCCCGCCCCCCCC CTCACCTGGCCTCCCGCCCCCTCCTCACCTGGCCTCCCGCCCCCCCCTCA CCTGGCCTCC	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0264 a0001c0002t0003g0264	1	344	0.0029	209	c.231 others(224): Show c.231-892_231-891insGGAGGCCAGGTGAGGGGGGGGCGGGAGGCC AGGTGAGGAGGGGGCGGGAGGCCAGGTGAGGGGGGGGGCGGGAGGCCAGG TGAGGAGGGGGCGGGAGGCCAGGTGAGGGGGGGGGGCGGGAGGCCAGGTG AGGAGGGGGCGGGAGGCCAGGTGAGGAGGGGGCGGGAGGCCAGGTGAGGG GGGGGGCGGGAGGCCAGGAGAGGAGGGGG	PTK6	ENSG00000101213.7	transcript	ENST00000542869.3	protein_coding	1/7			chr20	TogoVar
PTPRG_chr3_61556571_62302609	61885680	T T	TCCTCTCC others(202): Show TCCTCTCCTCTCCTCTCCCCTCCTCTCCTCTCCTCTCCACTCCTCCCCTC CCCTCCCCTCCCCTCTCCTCTCCTCTCCTCTGCTCCCCTCTCCTCCCCCC CCTCCCCTCCCCTCCCCTCCTGTCCCCCTCCCCTCTCCCCTCCTCCTCCC CCTCCCCTCACCCTCCCTCCTCCCCCCTCCCCTCCCCCTCCCTCCTCCCT CCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0009 a0009	a0009c0018 a0009c0018	a0009c0018t0006 a0009c0018t0006	a0009c0018t0006g0039 a0009c0018t0006g0039	1	94	0.0106	209	c.191 others(230): Show c.191-103928_191-103927insCCTCCTCTCCTCTCCTCTCCACTC CTCCCCTCCCCTCCCCTCCCCTCTCCTCTCCTCTCCTCTGCTCCCCTCTC CTCCCCCCCCTCCCCTCCCCTCCCCTCCTGTCCCCCTCCCCTCTCCCCTC CTCCTCCCCCTCCCCTCACCCTCCCTCCTCCCCCCTCCCCTCCCCCTCCC TCCTCCCTCCTCCCCTCCCCTCTCCTCTCCTCTCC	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
RAB11FIP3_chr16_420649_528011	504249	T T	TCCTCCTG others(202): Show TCCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTCCTGCA CTCCCATCTCCTCCTGTACCCCCTCAGCTCCTTGTGTACCCCTCACCTCC TGTACCCCCTCACCTCCTCCTGTACCCCCCTCACCTCCTCCTGTACCCCC TCACCTCCTCCTGCACTCCCATCTCCTCCTGTACCCCCTCAGCTCCTTGT GTACCCCTCA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0265 a0001c0001t0008g0265	1	295	0.0034	209	c.139 others(228): Show c.1395+1186_1395+1187insTCACCTCCTCCTGCACTCCCATCTCC TCCTGTACCCCCTCAGCTCCTTGTGTACCCCTCACCTCCTGTACCCCCTC ACCTCCTCCTGTACCCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTCC TGCACTCCCATCTCCTCCTGTACCCCCTCAGCTCCTTGTGTACCCCTCAC CTCCTGTACCCCCTCACCTCCTCCTGTACCCCC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	504412	G G	GTACCACC others(202): Show GTACCACCTCCTCCTGTACCCCCTCACCTCCTCTTGCACCCCCCTTGCCT CCTGTACCCCCTCACCTCCTTGTGCACCCCCTCACCTCCTGTACCCCCCT CACCTCCTCCTGTACCCGCCTCACCTCCTCCTGCACTCCCATCTCCTCCT GTACCCCCTCACCTCCTTGTGCACCCCCTCACCTCCTGTACCCCCTCACC TCCTCCTGTA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0177 a0001c0001t0014g0177	1	295	0.0034	209	c.139 others(228): Show c.1396-1112_1396-1111insTACCACCTCCTCCTGTACCCCCTCAC CTCCTCTTGCACCCCCCTTGCCTCCTGTACCCCCTCACCTCCTTGTGCAC CCCCTCACCTCCTGTACCCCCCTCACCTCCTCCTGTACCCGCCTCACCTC CTCCTGCACTCCCATCTCCTCCTGTACCCCCTCACCTCCTTGTGCACCCC CTCACCTCCTGTACCCCCTCACCTCCTCCTGTA	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	7/13			chr16	TogoVar
RBCK1_chr20_403299_437139	420671	C C	CCCCATCC others(202): Show CCCCATCCCCCCGTCCCCATCCCCCATCCCCCCGTCCCCCCGTCCCCATC CCCCGTCCCCCATCTCCTGTCCCCCGTCCCCATCCCCCCGTCCCCCGTCC CCCCATCCCATCCCCCACCCCCATCCCCCCGTCCCCCGTCCCCATCCCCC ATACCCCCATCCCCCGTCCCCCGTCCCCCATCTCCTGTCCCCCGTCCCCC ATCCCCCGGT	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0191 a0001c0001t0003g0191	1	452	0.0022	209	c.757 others(224): Show c.757-197_757-196insATCCCCCCGTCCCCATCCCCCATCCCCCCG TCCCCCCGTCCCCATCCCCCGTCCCCCATCTCCTGTCCCCCGTCCCCATC CCCCCGTCCCCCGTCCCCCCATCCCATCCCCCACCCCCATCCCCCCGTCC CCCGTCCCCATCCCCCATACCCCCATCCCCCGTCCCCCGTCCCCCATCTC CTGTCCCCCGTCCCCCATCCCCCGGTCCC	RBCK1	ENSG00000125826.22	transcript	ENST00000356286.10	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
RIPOR3_chr20_50581108_50696542	50666223	T T	TTTTCTTT others(202): Show TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0250	1	280	0.0036	209	c.3+2 others(224): Show c.3+24902_3+24903insGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAA	RIPOR3	ENSG00000042062.13	transcript	ENST00000327979.8	protein_coding	1/21			chr20	TogoVar
RNASE10_chr14_20500537_20518884	20505261	G G	GCTCCCTC others(202): Show GCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0006 a0001c0001t0003g0006	1	396	0.0025	209	c.-76 others(218): Show c.-764_-763insCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCT	RNASE10	ENSG00000182545.7	transcript	ENST00000430083.2	protein_coding		275		chr14	TogoVar
RNASE10_chr14_20500537_20518884	20505306	C C	CCCTCTCC others(202): Show CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCCTCTCCTCTCCTCTCCCTCTCCCTCTCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0068 a0001c0001t0013g0068	1	396	0.0025	209	c.-71 others(218): Show c.-719_-718insCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCCTCTCCTCTCCTCTCCCTCTCCCT CTCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCT	RNASE10	ENSG00000182545.7	transcript	ENST00000430083.2	protein_coding		230		chr14	TogoVar
RNASE10_chr14_20500537_20518884	20505328	C C	CTCCCTCT others(202): Show CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0060 a0001c0001t0060	a0001c0001t0060g0050 a0001c0001t0060g0050	1	396	0.0025	209	c.-69 others(218): Show c.-697_-696insTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCT	RNASE10	ENSG00000182545.7	transcript	ENST00000430083.2	protein_coding		208		chr14	TogoVar
RTN4R_chr22_20236415_20273318	20268311	C C	CGGCGCGG others(202): Show CGGCGCGGACTGGCGGGGCGCTCGCAGCGCGGGCCGCCGGGAGGATGAAT GTTTTATGGGATCAGGTGGTTTGACGCGCGAGGAATCCGCCCGGTTCCCC CGCCGGCCGGGGCGGGGCGGGGGCGGGCCGGGGCGGGGCCTCGCGGCGGG CGGAGCGCTCACCTGGGCGCGGGCGCGGGCGCGGGCCCGGGCGGGGGCTG GGGGGCGCGG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01891.hp2 HG02145.hp1 HG02257.hp2 others(4): Show HG01891.hp2 HG02145.hp1 HG02257.hp2 HG02572.hp1 HG03195.hp2 HG03225.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0010 a0001c0001t0003g0232 a0001c0001t0003g0233 a0001c0001t0003g0010 a0001c0001t0003g0232 a0001c0001t0003g0233	7	392	0.0179	209	c.-22 others(218): Show c.-220_-219insCCGCGCCCCCCAGCCCCCGCCCGGGCCCGCGCCCGC GCCCGCGCCCAGGTGAGCGCTCCGCCCGCCGCGAGGCCCCGCCCCGGCCC GCCCCCGCCCCGCCCCGGCCGGCGGGGGAACCGGGCGGATTCCTCGCGCG TCAAACCACCTGATCCCATAAAACATTCATCCTCCCGGCGGCCCGCGCTG CGAGCGCCCCGCCAGTCCGCGCC	RTN4R	ENSG00000040608.14	transcript	ENST00000043402.8	protein_coding	1/2	220		chr22	TogoVar
RTP5_chr2_241864729_241878823	241874961	G G	GGGGGTCC others(202): Show GGGGGTCCTAGGAGAAACCCCAATCCAGGTCTCAGGGCCCAACTGCAGGG ACGAGGGTCCCAGGGGAAACCCCAATCCAGGTCTCAGGGCCCAACTGCAG GGACGAGGGTCCCAGGGGAAACCCCAATCCAGGTCTCAGGGCCCAACTGC AGGGACGAGGGTCCCAGGGGAAACCCCAATCCAGGGCCTCGGGGGCCAAC TGCAGGGACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG02145.hp2 HG01109.hp2 HG02145.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0005 a0005c0005t0022 a0005c0005t0005 a0005c0005t0022	a0005c0005t0005g0005 a0005c0005t0022g0005 a0005c0005t0005g0005 a0005c0005t0022g0005	2	365	0.0055	209	c.16 others(220): Show c.1687_*1688insGGGGTCCTAGGAGAAACCCCAATCCAGGTCTCAG GGCCCAACTGCAGGGACGAGGGTCCCAGGGGAAACCCCAATCCAGGTCTC AGGGCCCAACTGCAGGGACGAGGGTCCCAGGGGAAACCCCAATCCAGGTC TCAGGGCCCAACTGCAGGGACGAGGGTCCCAGGGGAAACCCCAATCCAGG GCCTCGGGGGCCAACTGCAGGGACA	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding		1139		chr2	TogoVar
RTP5_chr2_241864729_241878823	241875099	G G	GGGGCCAA others(202): Show GGGGCCAAAATGCAGGGACGGGGGTCCCAGGAGAAACCCCAATCCAGGTC TCAGGGCCCAACTGCAGGGACGAGGGTCCCAGGGGAAACCCCAATCCAGG TCTCAGGGCCCAACTGCAGGGACGAGGGTCCCAGGAGAAACCCCAATCCA GGTCTCAGGGGCCAAAATGCAGGGACGGGGGTCCCAGGAGAAACCCCAAT CCAGGTCTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	1	365	0.0027	209	c.18 others(220): Show c.1825_*1826insGGGCCAAAATGCAGGGACGGGGGTCCCAGGAGAA ACCCCAATCCAGGTCTCAGGGCCCAACTGCAGGGACGAGGGTCCCAGGGG AAACCCCAATCCAGGTCTCAGGGCCCAACTGCAGGGACGAGGGTCCCAGG AGAAACCCCAATCCAGGTCTCAGGGGCCAAAATGCAGGGACGGGGGTCCC AGGAGAAACCCCAATCCAGGTCTCA	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding		1277		chr2	TogoVar
RUNDC3B_chr7_87623398_87837296	87626246	A A	ATTGTCAT others(202): Show ATTGTCATATATATGTGTCATATATATTGTCATATATATGTGTCATATAT ATTGTCATATATATGTGTCATATATATTGTCATATATATGTGTCATATAT GTGTCATATATATGTGTCATATATGTGTCATATATATGTGTCATATATGT GTCATATATATCTGTCATATATGTGTCATATATATCTGTCATATATGTGT CATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	202	0.0050	209	c.-25 others(220): Show c.-2578_-2577insTTGTCATATATATGTGTCATATATATTGTCATAT ATATGTGTCATATATATTGTCATATATATGTGTCATATATATTGTCATAT ATATGTGTCATATATGTGTCATATATATGTGTCATATATGTGTCATATAT ATGTGTCATATATGTGTCATATATATCTGTCATATATGTGTCATATATAT CTGTCATATATGTGTCATATATATG	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		2151		chr7	TogoVar
SCAMP1_chr5_78355617_78485739	78430042	T T	TTACAGTA others(202): Show TTACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTA TTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACA GTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTAT AAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATT TATTTATAAA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0018 a0001c0002t0011g0018	1	332	0.0030	209	c.632 others(226): Show c.632+8104_632+8312dupCAGTATTTATTTATAAATACAGTATTTA TTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACA GTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTAT AAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATT TATTTATAAATACAGTATTTATTTATAAATA	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCNN1D_chr1_1275436_1297025	1289847	G G	GTCTCTGC others(202): Show GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC CCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC GTGTCCCTGC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	290	0.0035	209	c.166 others(226): Show c.1663-422_1663-421insTCTGCTCCGTCCCGTGTCTCTGCTCCGT CCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTG CTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTG TCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCC CGTGTCTCTGCTCCGTCCCGTGTCCCTGCTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SIGIRR_chr11_400716_419999	400944	C C	CCACCCGA others(202): Show CCACCCGACCCCGCTCACACCCGGCCCCCGCTCACCCCCCGCCCCCGCTC ACCCCCGCCCCGCTCACACCCGCCCCCGCTCACACGCCCCCTCCGGCCCC GCTCACAACCCGCCCCGCTCACACCCCCGCCCCGCTCACACCCCGCCCCG CTCACCCCCGGCCCCGCTCACACACCCCGGCCCCGCTCACGCACCCGGCC CCCGCTCACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	242	0.0041	209	c.49 others(220): Show c.4951_*4952insTGTGAGCGGGGGCCGGGTGCGTGAGCGGGGCCGG GGTGTGTGAGCGGGGCCGGGGGTGAGCGGGGCGGGGTGTGAGCGGGGCGG GGGTGTGAGCGGGGCGGGTTGTGAGCGGGGCCGGAGGGGGCGTGTGAGCG GGGGCGGGTGTGAGCGGGGCGGGGGTGAGCGGGGGCGGGGGGTGAGCGGG GGCCGGGTGTGAGCGGGGTCGGGTG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4771		chr11	TogoVar
SIGIRR_chr11_400716_419999	411476	A A	AGGGGGGG others(202): Show AGGGGGGGTGCCCAGCTCTGACCATGTCTGGATGCAGTCGGGGAGGGGGG TGCCCAGCTCTGACCATGTCTGGATACAGTCGGCGGGGGGTGCCCAGCTC TGACCATGTCTGGATGCAGTCGGGGGGTGCCCAGCTCTGACCATGTCTGG ATACAGTCGGTGGGGGTTGCCCAGCTCTGACCATGTCTGGATACAGTCGG TGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	242	0.0041	209	c.-15 others(228): Show c.-153-1450_-153-1449insCCCCCCCCCACCGACTGTATCCAGAC ATGGTCAGAGCTGGGCAACCCCCACCGACTGTATCCAGACATGGTCAGAG CTGGGCACCCCCCGACTGCATCCAGACATGGTCAGAGCTGGGCACCCCCC GCCGACTGTATCCAGACATGGTCAGAGCTGGGCACCCCCCTCCCCGACTG CATCCAGACATGGTCAGAGCTGGGCACCCCCCC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SIGIRR_chr11_400716_419999	411476	A A	AGGGGGGT others(202): Show AGGGGGGTGCCCAGCTCTGACCATGTCTGGATGCAGTCGGGGAGGGGGGT GCCCAGCTCTGACCATGTCTGGATACAGTCGGCGGGGGGTGCCCAGCTCT GACCATGTCTGGATGCAGTCGGGGGGTGCCCAGCTCTGACCATGTCTGGA TACAGTCGGTGGGGGTTGCCCAGCTCTGACCATGTCTGGATACAGTCGGT GGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02647.hp1 HG02486.hp2 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0186 a0001c0001t0001g0154 a0001c0001t0001g0186	2	242	0.0083	209	c.-15 others(228): Show c.-153-1450_-153-1449insCCCCCCCCCCACCGACTGTATCCAGA CATGGTCAGAGCTGGGCAACCCCCACCGACTGTATCCAGACATGGTCAGA GCTGGGCACCCCCCGACTGCATCCAGACATGGTCAGAGCTGGGCACCCCC CGCCGACTGTATCCAGACATGGTCAGAGCTGGGCACCCCCCTCCCCGACT GCATCCAGACATGGTCAGAGCTGGGCACCCCCC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SLC12A7_chr5_1045384_1117063	1070045	G G	GAGCCCCC others(202): Show GAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCAGTGAGCCCCCA GTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCAGTGAGCCCC CAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACAC GGCATCACACTTAACGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCA CACTTAACGC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0029 a0001c0029	a0001c0029t0007 a0001c0029t0007	a0001c0029t0007g0012 a0001c0029t0007g0012	1	118	0.0085	209	c.224 others(228): Show c.2241+3587_2241+3588insGCGTTAAGTGTGATGCCCGTGTGCTG GGGGCTCACTGGGGGCTGCGTTAAGTGTGATGCCGTGTGCTGGGGGCTCA CTGGGGGCTGCATAAGTGTGATGCCCGTGTGCTGGGGGCTCACTGGGGCT GCATAAGTGTGATGCCCGTGTGCTGGGGGCTCACTGGGGGCTCACTGGGG CTGCATAAGTGTGATGCCCGTGTGCTGGGGGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar

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Search Results (Total: 10000 hits)