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
PCDHGB4_chr5_141382698_141517975	141407491	A A	ATTTCTGT others(201): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCTC GGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAG CCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATT TTTTGCATT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	294	0.0034	208	c.239 others(229): Show c.2397+17224_2397+17225insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGT GGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTC TCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACG CCCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGB4	ENSG00000253953.3	transcript	ENST00000519479.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGB4_chr5_141382698_141517975	141407491	A A	ATTTCTGT others(201): Show ATTTCTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCTC GGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAG CCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATT TTTTGCATT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	294	0.0034	208	c.239 others(229): Show c.2397+17221_2397+17222insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGC AGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCA TTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACT ACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTT	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(201): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCTC GGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAG CCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATT TTTTGCATT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0015 a0001c0001t0010g0015	1	300	0.0033	208	c.239 others(227): Show c.2397+6981_2397+6982insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGG CGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTC CTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCC CGGCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGB5	ENSG00000276547.2	transcript	ENST00000617380.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGB5_chr5_141392947_141517975	141407491	A A	ATTTCTGT others(201): Show ATTTCTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCTC GGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAG CCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATT TTTTGCATT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0032 a0004c0005t0002g0032	1	300	0.0033	208	c.239 others(227): Show c.2397+6978_2397+6979insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAG TGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATT CTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTAC GCCCGGCTAATTTTTTGCATTTTTCTGTTTTT	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(201): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCTC GGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAG CCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATT TTTTGCATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0088 a0002c0003t0001g0088	1	302	0.0033	208	c.-71 others(217): Show c.-712_-711insTTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCA GTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCAT TCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTA CGCCCGGCTAATTTTTTGCATT	PCDHGB6	ENSG00000253305.3	transcript	ENST00000520790.2	protein_coding		529		chr5	TogoVar
PCDHGB6_chr5_141403021_141517975	141407491	A A	ATTTCTGT others(201): Show ATTTCTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCTC GGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAG CCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATT TTTTGCATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0164 a0002c0003t0001g0164	1	302	0.0033	208	c.-71 others(217): Show c.-712_-711insTTTCTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCA GTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCAT TCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTA CGCCCGGCTAATTTTTTGCATT	PCDHGB6	ENSG00000253305.3	transcript	ENST00000520790.2	protein_coding		529		chr5	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CGATAGAT others(201): Show CGATAGATAGATGTATCTATCAATAGATAGATAGATGTATCTATCGATAG ATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAG ATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTAT CTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	436	0.0023	208	c.-26 others(219): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCGATAGATACA TCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATC GATAGATACATCTATCTATCGATAGATACATCTATCTATCGATAGATACA TCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATC TATTGATAGATACATCTATCTATC	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2190		chr20	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CGATAGAT others(201): Show CGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAG ATAGATGTATCTATCGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	1	436	0.0023	208	c.-26 others(219): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATC GATAGATACATCTATCTATCGATAGATACATCTATCTATCGATAGATACA TCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATC TATCGATAGATACATCTATCTATC	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2190		chr20	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CGATAGAT others(201): Show CGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAG ATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp1 HG04228.hp2 HG03239.hp1 HG04228.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0007 a0001c0002t0001g0003 a0001c0002t0001g0007	2	436	0.0046	208	c.-26 others(219): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCGATAGATACATCTATCGATAGATACATCTATCTATC GATAGATACATCTATCTATCGATAGATACATCTATCTATCGATAGATACA TCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATC TATCGATAGATACATCTATCTATC	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2190		chr20	TogoVar
PCSK6_chr15_101298933_101494707	101493369	T T	TTCCCTCC others(201): Show TTCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCC TCCCCCTCCCCTCCCCCTCCCCCATCCCCTCCCCACTTCCCCTCCCTCTC CCCTGCCCTCCCCCTCCCCCTCCCTCATCCCCTCCCCACTCCCCCTCACC ACTCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCC CCCTCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0002 a0002	a0002c0031 a0002c0031	a0002c0031t0001 a0002c0031t0001	a0002c0031t0001g0008 a0002c0031t0001g0008	1	336	0.0030	208	c.-37 others(219): Show c.-3700_-3699insGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAG GGGGAGGGGGAGGGGGAGGGGGAGTGGTGAGGGGGAGTGGGGAGGGGATG AGGGAGGGGGAGGGGGAGGGCAGGGGAGAGGGAGGGGAAGTGGGGAGGGG ATGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGG GGAGGGGGAGGGGGAGGGGAGGGA	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding		3663		chr15	TogoVar
PCSK6_chr15_101298933_101494707	101493369	T T	TTCCCTCC others(201): Show TTCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCC TCCCCCTCCCCTCCCCCTCCCCCATCCCCTCCCCACTTCCCCTCCCTCTC CCCTGCCCTCCCCCTCCCCCTCCCTCATCCCCTCCCCACTCCCCCTCCCC ACTCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCC CCCTCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp1 HG03225.hp2 HG06807.hp2 HG02809.hp1 HG03225.hp2 HG06807.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0007 a0001c0003 a0001c0004 a0001c0007	a0001c0003t0001 a0001c0004t0001 a0001c0007t0002 a0001c0003t0001 a0001c0004t0001 a0001c0007t0002	a0001c0003t0001g0092 a0001c0004t0001g0114 a0001c0007t0002g0093 a0001c0003t0001g0092 a0001c0004t0001g0114 a0001c0007t0002g0093	3	336	0.0089	208	c.-37 others(219): Show c.-3700_-3699insGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAG GGGGAGGGGGAGGGGGAGGGGGAGTGGGGAGGGGGAGTGGGGAGGGGATG AGGGAGGGGGAGGGGGAGGGCAGGGGAGAGGGAGGGGAAGTGGGGAGGGG ATGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGG GGAGGGGGAGGGGGAGGGGAGGGA	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding		3663		chr15	TogoVar
PDIA6_chr2_10778391_10817785	10806628	C C	CAAAGAAA others(201): Show CAAAGAAAGACAGAAAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGGAAAAGAAAAGAAAAAAAGAAAGAAAGAAAGAAAGA AAGAAAGAA	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0164 a0002c0002t0001g0164	1	342	0.0029	208	c.20- others(223): Show c.20-3989_20-3988insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT TTTTCTTTTCTTTTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTCTCTTTCTGTCTTTCTTT	PDIA6	ENSG00000143870.13	transcript	ENST00000272227.8	protein_coding	1/12			chr2	TogoVar
PIEZO1_chr16_88710338_88790220	88712921	C C	CCCCCTTC others(201): Show CCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCTTC CCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCCTTCCCCGGGC CCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCC CACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCAT ACCCGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0021 a0021	a0021c0069 a0021c0069	a0021c0069t0001 a0021c0069t0001	a0021c0069t0001g0114 a0021c0069t0001g0114	1	282	0.0036	208	c.26 others(219): Show c.2683_*2684insCTCTCGGGTATGAGTGGGGGTCAGGGCCCGGGGA AGGGGGGCTCTCAGGGGCATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGG CTCTCGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCAGGG GTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGCTCTCAGGGGCATGAGT GGGGGTCAGGGCCCGGGGAAGGGG	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding		2416		chr16	TogoVar
PIEZO1_chr16_88710338_88790220	88712921	C C	CCCCCTTC others(201): Show CCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCTTC CCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCCTTCCCCGGGC CCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCTGGGCCCTGACCCC CACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCAT ACCCGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0021 a0021	a0021c0133 a0021c0133	a0021c0133t0001 a0021c0133t0001	a0021c0133t0001g0160 a0021c0133t0001g0160	1	282	0.0036	208	c.26 others(219): Show c.2683_*2684insCTCTCGGGTATGAGTGGGGGTCAGGGCCCGGGGA AGGGGGGCTCTCAGGGGCATGAGTGGGGGTCAGGGCCCAGGGAAGGGGGG CTCTCGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCAGGG GTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGCTCTCAGGGGCATGAGT GGGGGTCAGGGCCCGGGGAAGGGG	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding		2416		chr16	TogoVar
PIK3R1_chr5_68210756_68306821	68262807	G G	GTAGATGC others(201): Show GTAGATGCATGTAGATACGTGTATACATATATACATGTAGATGCATGTAG ATACGTGTATACATATATACATGTAGATGCATGTAGATACATGTATACAT ATATACATGTAGATGCATGTAGATACATGTATACATATATACATGTAGAT GCATGTAGATACATGTATACATATATACATGTAGATGCATGTAGATACAT GTATACATA	intron_variant intron_variant	MODIFIER	HG02055.hp1 NA19030.hp2 HG02055.hp1 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0044 a0001c0002t0044	a0001c0002t0044g0213 a0001c0002t0044g0219 a0001c0002t0044g0213 a0001c0002t0044g0219	2	308	0.0065	208	c.335 others(227): Show c.335-10581_335-10580insGATGCATGTAGATACGTGTATACATA TATACATGTAGATGCATGTAGATACGTGTATACATATATACATGTAGATG CATGTAGATACATGTATACATATATACATGTAGATGCATGTAGATACATG TATACATATATACATGTAGATGCATGTAGATACATGTATACATATATACA TGTAGATGCATGTAGATACATGTATACATATA	PIK3R1	ENSG00000145675.16	transcript	ENST00000521381.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr5	TogoVar
PKD2L1_chr10_100283149_100335228	100314975	G G	GGGAAGGG others(201): Show GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGGGA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0296 a0001c0001t0001g0296	1	306	0.0033	208	c.349 others(227): Show c.349+14235_349+14236insTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCC	PKD2L1	ENSG00000107593.17	transcript	ENST00000318222.4	protein_coding	2/15			chr10	TogoVar
PKD2L1_chr10_100283149_100335228	100314983	G G	GGGAAGGG others(201): Show GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGGGA	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18947.hp1 NA18943.hp1 NA18947.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0001 a0005c0006t0001 a0001c0001t0001 a0005c0006t0001	a0001c0001t0001g0175 a0005c0006t0001g0110 a0001c0001t0001g0175 a0005c0006t0001g0110	2	306	0.0065	208	c.349 others(227): Show c.349+14227_349+14228insTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCC	PKD2L1	ENSG00000107593.17	transcript	ENST00000318222.4	protein_coding	2/15			chr10	TogoVar
POMT1_chr9_131497918_131528799	131515767	A A	AACACAGG others(201): Show AACACAGGACACTTCCTCACACGGAGCACTTCCTCACAGGGAGCACTTCC TCTAACAGGACACTTCCTCACACGGAGCACTTCCTCTAACACAGGACACT TCCTCACACGGAGCACTTCCTCACACGGAGCACTTCCTCTAACACAGGAC ACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAG CACTTCCTC	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA19076.hp2 NA18612.hp1 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	2	334	0.0060	208	c.127 others(225): Show c.1272+248_1272+249insCAGGACACTTCCTCACACGGAGCACTTC CTCACAGGGAGCACTTCCTCTAACAGGACACTTCCTCACACGGAGCACTT CCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACACGGAGCA CTTCCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGA GCACTTCCTCACAGGGAGCACTTCCTCACA	POMT1	ENSG00000130714.19	transcript	ENST00000402686.8	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr9	TogoVar
PRKCB_chr16_23830983_24225611	23981838	C C	CTTCCCCT others(201): Show CTTCCCCTTCACTTTCCCTTCCCCTTCCCTTCCCTTTCCCTTCCTTTTCC CTTCCACTTCCCCTTTCCCTTCCACTTCCCTTTCCCTTCACCTTCCCCTT CCCTTTCCCTTCCCCTTCCCTTCCCTTCCCCTTCCCTTTCCCTTCCCCTT CTCTTTCCCTTCCCTTTCCCTTCCCTTTCCTTTTCCCTTCCCTTCCCTTT CCCTTCCTT	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0062 a0001c0001t0062	a0001c0001t0062g0090 a0001c0001t0062g0090	1	148	0.0068	208	c.206 others(225): Show c.206-6665_206-6664insCTTCACTTTCCCTTCCCCTTCCCTTCCC TTTCCCTTCCTTTTCCCTTCCACTTCCCCTTTCCCTTCCACTTCCCTTTC CCTTCACCTTCCCCTTCCCTTTCCCTTCCCCTTCCCTTCCCTTCCCCTTC CCTTTCCCTTCCCCTTCTCTTTCCCTTCCCTTTCCCTTCCCTTTCCTTTT CCCTTCCCTTCCCTTTCCCTTCCTTTTCCC	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
PSEN1_chr14_73131507_73228691	73189448	T T	TAAAAATA others(201): Show TAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCA GCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAG CTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0128 a0001c0001t0006g0128	1	378	0.0027	208	c.548 others(225): Show c.548+2554_548+2555insAGTGGCGGGCGCCTGTAGTCCCAGCTAC TTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGC AGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGA CTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAATACAAAAAATTAGCCGGGCGT	PSEN1	ENSG00000080815.20	transcript	ENST00000324501.10	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
PTK6_chr20_63523001_63542376	63535752	A A	ACCTGGCC others(201): Show ACCTGGCCTCCCGCCCCCCCCTCACCTGGCCTCCCGCCCCCTCCTCACCT GGCCTCCCGCCCCCTCCTCACCTGGCCTCCCGCCCCCCCCCTCACCTGGC CTCCCACCCCGTCCTCACCTGGCCTCCCGCACCCCCCTCACCTGGCCTCC CGCCCCCCCCTCATCTGGCCTCCCGCCCCCTCCTCACCTGGCCTCCCGCC CCCTCCTCT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0232 a0001c0002t0003g0232	1	344	0.0029	208	c.231 others(223): Show c.231-694_231-693insAGAGGAGGGGGCGGGAGGCCAGGTGAGGAG GGGGCGGGAGGCCAGATGAGGGGGGGGCGGGAGGCCAGGTGAGGGGGGTG CGGGAGGCCAGGTGAGGACGGGGTGGGAGGCCAGGTGAGGGGGGGGGCGG GAGGCCAGGTGAGGAGGGGGCGGGAGGCCAGGTGAGGAGGGGGCGGGAGG CCAGGTGAGGGGGGGGCGGGAGGCCAGG	PTK6	ENSG00000101213.7	transcript	ENST00000542869.3	protein_coding	1/7			chr20	TogoVar
PTK6_chr20_63523001_63542376	63535752	A A	ACCTGGCC others(201): Show ACCTGGCCTCCCGCCCCCCCCTCACCTGGCCTCCCGCCCCCTCCTCACCT GGCCTCCCGCCCCCTCCTCACCTGGCCTCCCGCCCCCCCCTCACCTGGCC TCCCACCCCGTCCTCACCTGGCCTCCCGCACCCCCCTCACCTGGCCTCCC GCCCCCCCCCTCATCTGGCCTCCCGCCCCCTCCTCACCTGGCCTCCCGCC CCCTCCTCT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0003 a0003c0008t0003	a0003c0008t0003g0265 a0003c0008t0003g0265	1	344	0.0029	208	c.231 others(223): Show c.231-694_231-693insAGAGGAGGGGGCGGGAGGCCAGGTGAGGAG GGGGCGGGAGGCCAGATGAGGGGGGGGGCGGGAGGCCAGGTGAGGGGGGT GCGGGAGGCCAGGTGAGGACGGGGTGGGAGGCCAGGTGAGGGGGGGGCGG GAGGCCAGGTGAGGAGGGGGCGGGAGGCCAGGTGAGGAGGGGGCGGGAGG CCAGGTGAGGGGGGGGCGGGAGGCCAGG	PTK6	ENSG00000101213.7	transcript	ENST00000542869.3	protein_coding	1/7			chr20	TogoVar
PTK6_chr20_63523001_63542376	63535752	A A	ACCTGGCC others(201): Show ACCTGGCCTCCCGCCCCCCCCTCACCTGGCCTCCCGCCCCCTCCTCACCT GGCCTCCCGCCCCCTCCTCACCTGGCCTCCCGCCCCCCCCTCACCTGGCC TCCCACCCCGTCCTCACCTGGCCTCCCGCACCCCCCTCACCTGGCCTCCC GCCCCCCCCTCATCTGGCCTCCCGCCCCCTCCTCACCTGGCCTCCCGCCC CCCTCCTCT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0233 a0001c0002t0003g0233	1	344	0.0029	208	c.231 others(223): Show c.231-694_231-693insAGAGGAGGGGGGCGGGAGGCCAGGTGAGGA GGGGGCGGGAGGCCAGATGAGGGGGGGGCGGGAGGCCAGGTGAGGGGGGT GCGGGAGGCCAGGTGAGGACGGGGTGGGAGGCCAGGTGAGGGGGGGGCGG GAGGCCAGGTGAGGAGGGGGCGGGAGGCCAGGTGAGGAGGGGGCGGGAGG CCAGGTGAGGGGGGGGCGGGAGGCCAGG	PTK6	ENSG00000101213.7	transcript	ENST00000542869.3	protein_coding	1/7			chr20	TogoVar
PTK6_chr20_63523001_63542376	63535764	G G	GCCCCCCC others(201): Show GCCCCCCCCTCACCTGGCCTCCCGCCCCCTCCTCACCTGGCCTCCCGCCC CCTCCTCACCTGGCCTCCCGCCCCCCCCTCACCTGGCCTCCCACCCCGTC CTCACCTGGCCTCCCGCACCCCCCTCACCTGGCCTCCCGCCCCCCCCTCA TCTGGCCTCCCGCCCCCTCCTCACCTGGCCTCCCGCCCCCTCCTCTCCTG GCCTCCCGC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02647.hp1 HG03041.hp1 others(1): Show HG01255.hp1 HG02647.hp1 HG03041.hp1 HG03471.hp1	a0001 a0008 a0001 a0008	a0001c0002 a0008c0014 a0001c0002 a0008c0014	a0001c0002t0003 a0008c0014t0033 a0001c0002t0003 a0008c0014t0033	a0001c0002t0003g0235 a0001c0002t0003g0236 a0001c0002t0003g0237 others(1): Show a0001c0002t0003g0235 a0001c0002t0003g0236 a0001c0002t0003g0237 a0008c0014t0033g0260	4	344	0.0116	208	c.231 others(223): Show c.231-706_231-705insGCGGGAGGCCAGGAGAGGAGGGGGCGGGAG GCCAGGTGAGGAGGGGGCGGGAGGCCAGATGAGGGGGGGGCGGGAGGCCA GGTGAGGGGGGTGCGGGAGGCCAGGTGAGGACGGGGTGGGAGGCCAGGTG AGGGGGGGGCGGGAGGCCAGGTGAGGAGGGGGCGGGAGGCCAGGTGAGGA GGGGGCGGGAGGCCAGGTGAGGGGGGGG	PTK6	ENSG00000101213.7	transcript	ENST00000542869.3	protein_coding	1/7			chr20	TogoVar
PTP4A3_chr8_141387021_141437454	141395567	T T	TTAGGTGC others(201): Show TTAGGTGCGTGGGCCACCCCTCCCTCCTGCAGCCCCCGTTCATCTACCCG GGGTAGGTGCGTGGGCCACCCCTCCCTCCTGCAGCCCCCGTTCATCTACC CAGGATAGGTGCATGGGCCACCCCTCCCTCCTGCAGCCCCCGTTCATCTA CCTGGGGAAGGTGCGTGGGCCACCCCTCCCTCCTGCAGCCCCCGTTCATC TACCCGGGG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02280.hp1 HG02965.hp2 HG00408.hp1 HG02280.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0005 a0001c0001t0002g0087 a0001c0001t0001g0005 a0001c0001t0002g0087	3	323	0.0093	208	c.-85 others(227): Show c.-854+3531_-854+3532insGGGGTAGGTGCGTGGGCCACCCCTCC CTCCTGCAGCCCCCGTTCATCTACCCAGGATAGGTGCATGGGCCACCCCT CCCTCCTGCAGCCCCCGTTCATCTACCTGGGGAAGGTGCGTGGGCCACCC CTCCCTCCTGCAGCCCCCGTTCATCTACCCGGGGTAGGTGCGTGGGCCAC CCCTCCCTCCTGCAGCCCCCGTTCATCTACCC	PTP4A3	ENSG00000184489.13	transcript	ENST00000521578.6	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
PTPRG_chr3_61556571_62302609	61885680	T T	TCCTCTCC others(201): Show TCCTCTCCTCTCCTCTCCTCTCCTCTCCACTCCTCCCCTCCCCTCCCCTC CCCTCCCCTCTCCTCTCCTCTCCTCTCCTCTGCTCCCCTCTCCTCCCCCC CCTCCCCTCCCCTCCTGTCCCCCTCCCCTCTCCCCTCCCCCTCCCCCTCC CCTCCCCCTCCCCTCCCCCTCCCTCCTCCCCCCTCCCCTCCCCCTCCCTC CTCCCCTCC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00738.hp2 HG01071.hp2 others(5): Show HG00639.hp1 HG00738.hp2 HG01071.hp2 HG01496.hp1 HG02145.hp1 HG02300.hp1 HG03017.hp2 NA19087.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0002c0003 others(1): Show a0001c0001 a0002c0002 a0002c0003 a0005c0011	a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 others(3): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 a0002c0003t0001 a0002c0003t0014 a0005c0011t0002	a0001c0001t0001g0042 a0001c0001t0001g0085 a0001c0001t0001g0090 others(5): Show a0001c0001t0001g0042 a0001c0001t0001g0085 a0001c0001t0001g0090 a0001c0001t0002g0050 a0002c0002t0002g0020 a0002c0003t0001g0017 a0002c0003t0014g0007 a0005c0011t0002g0080	8	94	0.0851	208	c.191 others(229): Show c.191-103924_191-103923insCTCTCCACTCCTCCCCTCCCCTCC CCTCCCCTCCCCTCTCCTCTCCTCTCCTCTCCTCTGCTCCCCTCTCCTCC CCCCCCTCCCCTCCCCTCCTGTCCCCCTCCCCTCTCCCCTCCCCCTCCCC CTCCCCTCCCCCTCCCCTCCCCCTCCCTCCTCCCCCCTCCCCTCCCCCTC CCTCCTCCCCTCCCCTCTCCTCTCCTCTCCTCTC	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
PTPRM_chr18_7562316_8411856	7692252	T T	TGGAGGAT others(201): Show TGGAGGATGGCTAGATCCCAGGAGGTTAAGGAGGTGGAGGATGGCTAGAT CCCAGGAGGTTAAGGAGGTGGGAGGATGGCTAGATCCCAGGAGGTTAAGG AGGTGGGAGGATGGCTAGATCCCAGGAGGTTAAGGAGGTGGGAGGATGGC TAGATCCCAGGAGGTTAAGGAGGTGGAGGATGGCTAGATCCCAGGAGGTT AAGGAGGTG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02258.hp1 HG02622.hp1 others(7): Show HG02109.hp2 HG02258.hp1 HG02622.hp1 HG02896.hp1 HG03195.hp2 HG03225.hp2 HG03453.hp1 HG03516.hp1 NA19240.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0002c0007	a0001c0001t0003 a0001c0002t0001 a0001c0002t0006 others(5): Show a0001c0001t0003 a0001c0002t0001 a0001c0002t0006 a0001c0005t0001 a0001c0005t0002 a0001c0005t0003 a0001c0006t0003 a0002c0007t0001	a0001c0001t0003g0072 a0001c0001t0003g0075 a0001c0001t0003g0077 others(7): Show a0001c0001t0003g0072 a0001c0001t0003g0075 a0001c0001t0003g0077 a0001c0002t0001g0065 a0001c0002t0006g0073 a0001c0005t0001g0009 a0001c0005t0002g0044 a0001c0005t0003g0076 a0001c0006t0003g0078 a0002c0007t0001g0010	10	80	0.1250	208	c.74- others(225): Show c.74-81827_74-81826insGAGGATGGCTAGATCCCAGGAGGTTAAG GAGGTGGGAGGATGGCTAGATCCCAGGAGGTTAAGGAGGTGGGAGGATGG CTAGATCCCAGGAGGTTAAGGAGGTGGAGGATGGCTAGATCCCAGGAGGT TAAGGAGGTGGGAGGATGGCTAGATCCCAGGAGGTTAAGGAGGTGGAGGA TGGCTAGATCCCAGGAGGTTAAGGAGGTGG	PTPRM	ENSG00000173482.17	transcript	ENST00000580170.6	protein_coding	1/32		INFO_REALIGN_3_PRIME	chr18	TogoVar
PTPRT_chr20_42067756_43194906	42993506	A A	ATTTGTGT others(201): Show ATTTGTGTATATATATACATATATGTGTGTGTATATATATACATATATGT GTGTGTGTATATATACATATGTGTGTGTATATATACACATATATGTGTGT GTATATATACACATATATGTGTGTGTATATATACATATATGTGTATATAT ATACACATATATGTATATATACACACACATATATGTGTATATATACACAC ACATATATG	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0001 a0002c0004t0002g0001	1	62	0.0161	208	c.89- others(227): Show c.89-107575_89-107574insCATATATGTGTGTGTATATATACACA TATATGTGTGTGTATATATACATATATGTGTATATATATACACATATATG TATATATACACACACATATATGTGTATATATACACACACATATATGTGTA TATATACACACACATATGTATATATACACACACACATATATGTATATATA TACACACACATATATGTATATATATACACAAA	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	1/30			chr20	TogoVar
RAB3C_chr5_58578075_58864394	58597130	A A	ATTATATA others(201): Show ATTATATAATATATATAATACATTATATATATTATATAATATAGATAATA CATTATATATATTATATAATATATATAATACATTATCTATATTATATAAT ATATAATACATTATATATTATATAATATAGATAATACATTATATATATTA TATAATAATATATAATACATAATATATAATATAATAATATATACTACATA ATATATATT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0171 a0001c0001t0002g0171	1	220	0.0046	208	c.24+ others(225): Show c.24+13898_24+13899insTTATATAATATATATAATACATTATATA TATTATATAATATAGATAATACATTATATATATTATATAATATATATAAT ACATTATCTATATTATATAATATATAATACATTATATATTATATAATATA GATAATACATTATATATATTATATAATAATATATAATACATAATATATAA TATAATAATATATACTACATAATATATATT	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	1/4			chr5	TogoVar
RAC3_chr17_82026678_82039204	82034806	T T	TGGTCCCG others(201): Show TGGTCCCGGGATTGGAGTCACTCGGGATTGGAGGGTGCCATGAGGTCCCG GGATTGGAGTCACTCGGGATTGGAGGGAGCCGTGGTCCCGGGATTGGAGT CACTCGGGATTGGAAGGTGCCATGAGGTCCCGGGATTGGAGTCACTCGGG ATTGGAGGGTGCCATGAGGTCCCGGGATTGGAGTCACTCGGGATTGGAGG GTGCCATGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	404	0.0025	208	c.97 others(217): Show c.977_*978insGGTCCCGGGATTGGAGTCACTCGGGATTGGAGGGTG CCATGAGGTCCCGGGATTGGAGTCACTCGGGATTGGAGGGAGCCGTGGTC CCGGGATTGGAGTCACTCGGGATTGGAAGGTGCCATGAGGTCCCGGGATT GGAGTCACTCGGGATTGGAGGGTGCCATGAGGTCCCGGGATTGGAGTCAC TCGGGATTGGAGGGTGCCATGA	RAC3	ENSG00000169750.9	transcript	ENST00000306897.9	protein_coding		603		chr17	TogoVar
RAD17_chr5_69364818_69419801	69377624	C C	CATATATA others(201): Show CATATATATGCATATATATGTATGCATATATATATGCATATATATGTATA CATATATATGCATATATATGTATACATATATATGCATATATATGTATACA TATATATGCATATATATATGCATACATATATATGCATACATATATGCATG CATATATATATGCATACATATATGCATGCATATATATATGCATACATATA TGCATGCAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0255 a0001c0001t0001g0255	1	359	0.0028	208	c.351 others(225): Show c.351+2922_351+2923insCATATATATGTATGCATATATATATGCA TATATATGTATACATATATATGCATATATATGTATACATATATATGCATA TATATGTATACATATATATGCATATATATATGCATACATATATATGCATA CATATATGCATGCATATATATATGCATACATATATGCATGCATATATATA TGCATACATATATGCATGCATATATATATG	RAD17	ENSG00000152942.19	transcript	ENST00000354868.10	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr5	TogoVar
RAE1_chr20_57346255_57384202	57350891	G G	GGGGGCTG others(201): Show GGGGGCTGGGGGACGGGGGGGGCGGGGGGCGGGGGGACGGGGGGCGGGGG GCGGGGGGCGGGGGGCGGGGGGACGGGGGGCGGGGGGGGCGGGGGGACGG GGGGCGGGGGGGGCGGGGGGACGGGGGGCGGGGGGGGCGGGGGGACGGGG GGCGGGGGGGACGGGGGGCGGGGGGGGCGGGGGGGACGGGGGACGGGGGG CGGGGGGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0135 a0001c0001t0004g0135	1	342	0.0029	208	c.-53 others(217): Show c.-539_-538insGGGGCTGGGGGACGGGGGGGGCGGGGGGCGGGGGGA CGGGGGGCGGGGGGCGGGGGGCGGGGGGCGGGGGGACGGGGGGCGGGGGG GGCGGGGGGACGGGGGGCGGGGGGGGCGGGGGGACGGGGGGCGGGGGGGG CGGGGGGACGGGGGGCGGGGGGGACGGGGGGCGGGGGGGGCGGGGGGGAC GGGGGACGGGGGGCGGGGGGAC	RAE1	ENSG00000101146.13	transcript	ENST00000395841.7	protein_coding		363		chr20	TogoVar
RALGAPA2_chr20_20384530_20717644	20458790	C C	CTATATAT others(201): Show CTATATATATATAGACCTATATATATATAGACCTATATATATAGACCTAT ATATATATAGACCTATATATATATAGACCTATATATATAGACCTATATAT ATATATAGACCTATATATATATAGACCTATATATATATAGACCTATATAT ATATAGACCTATATATATAGACCTATATATATATATAGACCTATATATAT ATAGACCTA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0047 a0001c0001t0007g0047	1	122	0.0082	208	c.549 others(229): Show c.5495+14038_5495+14039insTAGGTCTATATATATATAGGTCTA TATATATATATAGGTCTATATATATAGGTCTATATATATATAGGTCTATA TATATATAGGTCTATATATATATAGGTCTATATATATATATAGGTCTATA TATATAGGTCTATATATATATAGGTCTATATATATATAGGTCTATATATA TAGGTCTATATATATATAGGTCTATATATATATA	RALGAPA2	ENSG00000188559.16	transcript	ENST00000202677.12	protein_coding	37/39			chr20	TogoVar
RBFOX1_chr16_6014024_7718340	6637301	A A	AATATATA others(201): Show AATATATATTTTATATAATATATAATATACAATATATATTGTATATTATA TATATAATATACAATATATATTGTATATTATATAATTTATATAATATACA ATATATATTGTATATTATATATATTATATAATATACAATATATATTGTAT ATTATATATTATATAATATACAATATATATTGTATATTATATAATATTAT ATAATATAC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03471.hp1 HG02559.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0042 a0001c0001t0003 a0001c0001t0042	a0001c0001t0003g0006 a0001c0001t0042g0022 a0001c0001t0003g0006 a0001c0001t0042g0022	2	68	0.0294	208	c.-63 others(227): Show c.-63-17301_-63-17300insTATATATTTTATATAATATATAATAT ACAATATATATTGTATATTATATATATAATATACAATATATATTGTATAT TATATAATTTATATAATATACAATATATATTGTATATTATATATATTATA TAATATACAATATATATTGTATATTATATATTATATAATATACAATATAT ATTGTATATTATATAATATTATATAATATACA	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	6637301	A A	AATATATA others(201): Show AATATATATTTTATATAATATATAATATACAATATATATTGTATATTATA TATATAATATACAATATATATTGTATATTATATATATTATATAATATACA ATATATATTGTATATTATATATATTATATAATATACAATATATATTGTAT ATTATATATTATATAATATACAATATATATTGTATATTATATAATATTAT ATAATATAC	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	68	0.0147	208	c.-63 others(227): Show c.-63-17301_-63-17300insTATATATTTTATATAATATATAATAT ACAATATATATTGTATATTATATATATAATATACAATATATATTGTATAT TATATATATTATATAATATACAATATATATTGTATATTATATATATTATA TAATATACAATATATATTGTATATTATATATTATATAATATACAATATAT ATTGTATATTATATAATATTATATAATATACA	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RCBTB2_chr13_48483963_48538080	48527326	T T	TATATATA others(201): Show TATATATATATATGATATATATATATATATCATATATATATATCATATAT ATATATGATATATATATATATCATATATATATGATATATATATATGATAT ATATGATATATATATATCATATATATATATGATATATATATGATATATAT ATATATCATATATATATATGATATATATATGATATATATATATATCATAT ATATATATG	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0288 a0001c0001t0007g0288	1	320	0.0031	208	c.-21 others(227): Show c.-218-2570_-218-2569insCATATATATATATGATATATATATAT ATCATATATATATCATATATATATATGATATATATATATATCATATATAT ATCATATATATATATGATATATATATATCATATATATCATATATATATAT CATATATATATGATATATATATATATCATATATATATATGATATATATAT ATGATATATATATATATATCATATATATATAT	RCBTB2	ENSG00000136161.13	transcript	ENST00000344532.8	protein_coding	1/14			chr13	TogoVar
REPS2_chrX_16941658_17158272	17050141	C C	CCTTCCTT others(201): Show CCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCCTTCTTTCCTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTT	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	166	0.0060	208	c.908 others(225): Show c.908-2238_908-2237insCCTTCCTTCCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTCTTTCCTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	REPS2	ENSG00000169891.18	transcript	ENST00000357277.8	protein_coding	6/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
RERG_chr12_15102783_15226417	15161138	A A	AAAAGAAA others(201): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	300	0.0033	208	c.62- others(225): Show c.62-40020_62-40019insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	RERG	ENSG00000134533.6	transcript	ENST00000256953.6	protein_coding	2/4			chr12	TogoVar
RETNLB_chr3_108750638_108762410	108759586	C C	CATACGTA others(201): Show CATACGTATGTATGTGTATACATACATATGTATGTATGTGTATACATACG TATGTATGTGTATACATACATACGTATGTATGTGTACACATACGTATGTA TGTGTACACATACATATGTATGTGTACACATACATATGTATGTGTACACA TACATATGTATGTATGTGTACACATACATATGTATGTGTATACATACGTA TGTATGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	452	0.0022	208	c.-24 others(219): Show c.-2402_-2401insACACATACATACGTATGTATACACATACATATGT ATGTGTACACATACATACATATGTATGTGTACACATACATATGTATGTGT ACACATACATATGTATGTGTACACATACATACGTATGTGTACACATACAT ACGTATGTATGTATACACATACATACGTATGTATACACATACATACATAT GTATGTATACACATACATACGTAT	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2177		chr3	TogoVar
RIPK4_chr21_41734373_41772052	41736022	A A	ACTTCTTC others(201): Show ACTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTTCTTCTTCTTCTTCTT CTTCTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0088 a0001c0002t0002g0088	1	448	0.0022	208	c.48 others(219): Show c.4815_*4816insAAGAAGAAGAAGAAGAAGAAGAAGAAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAG	RIPK4	ENSG00000183421.12	transcript	ENST00000332512.8	protein_coding		3350		chr21	TogoVar
RNF182_chr6_13919952_13985310	13925069	G G	GGGCGGGG others(201): Show GGGCGGGGTGGAGTGGGGTGGGGTGGGGTGGGGTGGGGTGGGGCGGGGCC CGCCCGGCTCGCGGAGGGAGGGGTGCCCGCACTCGGCTGCGCCCGAGTCC CCGGGGGCCCGTCCCCACCGAGGAAACGGACGGCGGCCGCCCCCGACGCC GCTGCCGCCGCCGCCGCCCCCGCCGCCGCCGCCGCCCCCGCCGCCCCCGC CGCCCCCGC	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02523.hp2 NA18948.hp2 others(2): Show HG02155.hp2 HG02523.hp2 NA18948.hp2 NA18950.hp2 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0012 a0001c0001t0002 a0001c0001t0012	a0001c0001t0002g0166 a0001c0001t0012g0019 a0001c0001t0012g0165 others(1): Show a0001c0001t0002g0166 a0001c0001t0012g0019 a0001c0001t0012g0165 a0001c0001t0012g0167	5	356	0.0140	208	c.-36 others(223): Show c.-367+49_-367+50insGGGGTGGAGTGGGGTGGGGTGGGGTGGGGT GGGGTGGGGCGGGGCCCGCCCGGCTCGCGGAGGGAGGGGTGCCCGCACTC GGCTGCGCCCGAGTCCCCGGGGGCCCGTCCCCACCGAGGAAACGGACGGC GGCCGCCCCCGACGCCGCTGCCGCCGCCGCCGCCCCCGCCGCCGCCGCCG CCCCCGCCGCCCCCGCCGCCCCCGCGGC	RNF182	ENSG00000180537.13	transcript	ENST00000488300.6	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
RORA_chr15_60483284_61234302	60816082	G G	GTATACTG others(201): Show GTATACTGTAAACAGTATATGTATTTATATACTGTAAACAGTATATGTAT TTATATACTGTAAACAGTATATGTATTTATATACTGTAAACAGTATATGT ATTTATATACTGTAAACAGTATATGTATTTATATACTGTAAACAGTATAT GTATTTATATACTGTAAACAGTATATGTATTTATATACTGTAAACAGTAT ATGTATTTA	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp2 HG03579.hp1 others(1): Show HG03491.hp1 HG03491.hp2 HG03579.hp1 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0001t0007 a0001c0001t0033 others(1): Show a0001c0001t0006 a0001c0001t0007 a0001c0001t0033 a0001c0002t0003	a0001c0001t0006g0052 a0001c0001t0007g0115 a0001c0001t0033g0041 others(1): Show a0001c0001t0006g0052 a0001c0001t0007g0115 a0001c0001t0033g0041 a0001c0002t0003g0032	4	118	0.0339	208	c.167 others(229): Show c.167-137604_167-137397dupTAAATACATATACTGTTTACAGTA TATAAATACATATACTGTTTACAGTATATAAATACATATACTGTTTACAG TATATAAATACATATACTGTTTACAGTATATAAATACATATACTGTTTAC AGTATATAAATACATATACTGTTTACAGTATATAAATACATATACTGTTT ACAGTATATAAATACATATACTGTTTACAGTATA	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	1/10			chr15	TogoVar
RPH3AL_chr17_207389_357807	288621	T T	TCTCTCCA others(201): Show TCTCTCCACCGTCAGACCTCACTCCCTCTCTCCACCGTCAGACCTCGCAC CCTCTCTCCACCGTCAGACCTCACTCCCTCTCTCCACCGTCAGACCTCGC ACCCTCTCTCCACCGTCAGACCTCACTCCCTCTCTCCACCGTCAGACCTC GCACCCTCTCTCCACCGTCAGACCTCACTCCCTCTCTCTCCACCGTCAGA CCTCACTCC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	133	0.0075	208	c.352 others(225): Show c.352-6768_352-6767insGGAGTGAGGTCTGACGGTGGAGAGAGAG GGAGTGAGGTCTGACGGTGGAGAGAGGGTGCGAGGTCTGACGGTGGAGAG AGGGAGTGAGGTCTGACGGTGGAGAGAGGGTGCGAGGTCTGACGGTGGAG AGAGGGAGTGAGGTCTGACGGTGGAGAGAGGGTGCGAGGTCTGACGGTGG AGAGAGGGAGTGAGGTCTGACGGTGGAGAG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	288677	T T	TCTCTCCA others(201): Show TCTCTCCACCGTCAGACCTCACTCCCTCTCTCCACCGTCAGACCTCACAC CCTCTCTCCACCGTCAGACCTCACTCCCTCTCTCTCCACCGTCAGACCTC ACTCCCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCCACCGTCAGACC TCACTCCCTCTCTCCACCGTCAGAACTCGCACCCTCTCTCCACCGTCAGA CCTCACTCC	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0031 a0001c0001t0002g0031	1	133	0.0075	208	c.352 others(225): Show c.352-6824_352-6823insGGAGTGAGGTCTGACGGTGGAGAGAGGG TGCGAGTTCTGACGGTGGAGAGAGGGAGTGAGGTCTGACGGTGGAGAGAG GGTGCGAGGTCTGACGGTGGAGAGAGGGAGTGAGGTCTGACGGTGGAGAG AGAGGGAGTGAGGTCTGACGGTGGAGAGAGGGTGTGAGGTCTGACGGTGG AGAGAGGGAGTGAGGTCTGACGGTGGAGAG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	304161	G G	GATGGGGA others(201): Show GATGGGGAGGGAGGGAGGCTGTACTGAGGTTTTAATAATTATTGAGCAGT GACCGTGTCTCAGGAAAGAGATGGGGAGGGAGGGAGGCTGTACTGAGGTT TTAATAATTATTGGGCAGTGACCGTGTCTCAGGAAAGAGATGGGGAGGGA GGGAGGCTGTACTGAGGTTTTAATAATTATTGAGCAGTGACCGTGTCTCA GGAAAGAGA	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0003 a0005c0010t0003	a0005c0010t0003g0085 a0005c0010t0003g0085	1	133	0.0075	208	c.351 others(227): Show c.351+15258_351+15259insTCTCTTTCCTGAGACACGGTCACTGC TCAATAATTATTAAAACCTCAGTACAGCCTCCCTCCCTCCCCATCTCTTT CCTGAGACACGGTCACTGCCCAATAATTATTAAAACCTCAGTACAGCCTC CCTCCCTCCCCATCTCTTTCCTGAGACACGGTCACTGCTCAATAATTATT AAAACCTCAGTACAGCCTCCCTCCCTCCCCAT	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPTOR_chr17_80539838_80971368	80686360	T T	TATTTTTT others(201): Show TATTTTTTTTATTTTTATTTTTTTATTTTTATTTTATTTTATTTTATTTT TTGAGAGGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGGT CTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCT CAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCGCCACCATGCCCGGCTA ATTTTTTGC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp2 HG00735.hp1 others(36): Show HG00099.hp2 HG00639.hp2 HG00735.hp1 HG00741.hp1 HG01071.hp2 HG01167.hp2 HG01255.hp2 HG01261.hp1 HG01884.hp2 HG02055.hp2 HG02145.hp2 HG02258.hp2 HG02451.hp1 HG02559.hp2 HG02630.hp2 HG02647.hp1 HG02723.hp2 HG02809.hp2 HG02886.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02970.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 NA18522.hp2 NA19043.hp2 NA20300.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0004 a0001c0005 a0001c0006 others(28): Show a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0011 a0001c0016 a0001c0020 a0001c0021 a0001c0025 a0001c0028 a0001c0029 a0001c0038 a0001c0040 a0001c0041 a0001c0042 a0001c0043 a0001c0045 a0001c0047 a0001c0048 a0001c0056 a0001c0059 a0001c0064 a0001c0068 a0001c0070 a0001c0079 a0001c0088 a0001c0089 a0002c0063 a0005c0092	a0001c0004t0035 a0001c0005t0074 a0001c0005t0075 others(34): Show a0001c0004t0035 a0001c0005t0074 a0001c0005t0075 a0001c0005t0083 a0001c0006t0063 a0001c0006t0082 a0001c0006t0087 a0001c0007t0030 a0001c0007t0084 a0001c0008t0081 a0001c0009t0006 a0001c0011t0029 a0001c0016t0031 a0001c0020t0093 a0001c0021t0065 a0001c0025t0051 a0001c0025t0052 a0001c0028t0006 a0001c0029t0085 a0001c0038t0007 a0001c0040t0066 a0001c0041t0004 a0001c0042t0055 a0001c0043t0008 a0001c0045t0091 a0001c0047t0012 a0001c0048t0073 a0001c0056t0001 a0001c0059t0080 a0001c0064t0006 a0001c0068t0025 a0001c0070t0020 a0001c0079t0050 a0001c0088t0007 a0001c0089t0006 a0002c0063t0020 a0005c0092t0012	a0001c0004t0035g0004 a0001c0005t0074g0008 a0001c0005t0075g0009 others(36): Show a0001c0004t0035g0004 a0001c0005t0074g0008 a0001c0005t0075g0009 a0001c0005t0083g0017 a0001c0006t0063g0160 a0001c0006t0082g0015 a0001c0006t0087g0013 a0001c0007t0030g0018 a0001c0007t0030g0020 a0001c0007t0084g0007 a0001c0008t0081g0019 a0001c0009t0006g0142 a0001c0011t0029g0196 a0001c0016t0031g0010 a0001c0016t0031g0011 a0001c0020t0093g0034 a0001c0021t0065g0112 a0001c0025t0051g0174 a0001c0025t0052g0181 a0001c0028t0006g0124 a0001c0029t0085g0012 a0001c0038t0007g0178 a0001c0040t0066g0180 a0001c0041t0004g0175 a0001c0042t0055g0179 a0001c0043t0008g0176 a0001c0045t0091g0036 a0001c0047t0012g0150 a0001c0048t0073g0144 a0001c0056t0001g0107 a0001c0059t0080g0006 a0001c0064t0006g0106 a0001c0068t0025g0104 a0001c0070t0020g0003 a0001c0079t0050g0097 a0001c0088t0007g0141 a0001c0089t0006g0159 a0002c0063t0020g0001 a0005c0092t0012g0163	39	196	0.1990	208	c.349 others(227): Show c.349-21475_349-21474insTTTATTTTTATTTTTTTATTTTTATT TTATTTTATTTTATTTTTTGAGAGGGAGTCTCGCTCTGTCGCCCAGGCTG GAGTGCAGTGGCGCGGTCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTC ACGCCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCC GCCACCATGCCCGGCTAATTTTTTGCATTTTT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80686360	T T	TATTTTTT others(201): Show TATTTTTTTTATTTTTATTTTTTTATTTTTATTTTATTTTATTTTATTTT TTGAGAGGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGGT CTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCT CAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTA ATTTTTTGC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0057 a0001c0057	a0001c0057t0077 a0001c0057t0077	a0001c0057t0077g0016 a0001c0057t0077g0016	1	196	0.0051	208	c.349 others(227): Show c.349-21475_349-21474insTTTATTTTTATTTTTTTATTTTTATT TTATTTTATTTTATTTTTTGAGAGGGAGTCTCGCTCTGTCGCCCAGGCTG GAGTGCAGTGGCGCGGTCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTC ACGCCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCC GCCACTACGCCCGGCTAATTTTTTGCATTTTT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80963656	C C	GTGCGGCC others(201): Show GTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCCGTCCCCTGTG CGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGC CCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTC ACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCC CGTCCCCTC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0049 a0001c0049	a0001c0049t0011 a0001c0049t0011	a0001c0049t0011g0078 a0001c0049t0011g0078	1	196	0.0051	208	c.393 others(225): Show c.3939+598_3939+599insGTGCGGCCCTCACCCCGTCCCCTGTGCG GCCCTCACCCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCC CTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCA CCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCC GTCCCCTGTGCGGCCCTCACCCCGTCCCCT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	33/33			chr17	TogoVar
RSU1_chr10_16585611_16822424	16722966	A A	ATATATGT others(201): Show ATATATGTATATATACACACATATACATATATGTATATATACACACATAT ACATATATGTATATATACACACATATACATATATGTATATATACACACAT ATACATATATGTATATATACACACATATACATATATGTATATATACACAC ATATACATATATGTATATATACACACATATACGTATATGTATATATACAC ACATATACG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0021 a0001c0001t0009g0021	1	190	0.0053	208	c.599 others(227): Show c.599-27812_599-27811insCGTATATGTGTGTATATATACATATA CGTATATGTGTGTATATATACATATATGTATATGTGTGTATATATACATA TATGTATATGTGTGTATATATACATATATGTATATGTGTGTATATATACA TATATGTATATGTGTGTATATATACATATATGTATATGTGTGTATATATA CATATATGTATATGTGTGTATATATACATATA	RSU1	ENSG00000148484.18	transcript	ENST00000345264.10	protein_coding	7/8			chr10	TogoVar
RTN4IP1_chr6_106565771_106634498	106589237	G G	GGAGGAGG others(201): Show GGAGGAGGGAGGGAGGAGGAGGGAGGGGAGGAGGAGGAGGGAGGGAGAGG AGGGAGGGGGGAGGAGGGAGGGGGGAGGGGGAGGAGGGAGGGGGAGAAGG GGAGAAGAAGGAGAAGAAGGAGAAGAGGAAGAGGGAAGAAGAGGAAGAGG AAGAGGAAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGAAGGAGGA GGAGGAGAA	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0175 a0001c0003t0004g0175	1	396	0.0025	208	c.807 others(225): Show c.807-1376_807-1375insTTCTCCTCCTCCTCCTTCTCCTCCTCCT TCTCCTCCTCCTCCTTCTCCTCCTTCCTCTTCCTCTTCCTCTTCTTCCCT CTTCCTCTTCTCCTTCTTCTCCTTCTTCTCCCCTTCTCCCCCTCCCTCCT CCCCCTCCCCCCTCCCTCCTCCCCCCTCCCTCCTCTCCCTCCCTCCTCCT CCTCCCCTCCCTCCTCCTCCCTCCCTCCTC	RTN4IP1	ENSG00000130347.13	transcript	ENST00000369063.8	protein_coding	6/8			chr6	TogoVar

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Search Results (Total: 10000 hits)