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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
MRPL24_chr1_156732303_156746088	156735535	A A	AAAAAAAA others(407): Show AAAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGTAG ACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCTA CAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGAC CCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAAG GTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAAACCCGTCTCTAC TAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCCC AGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGGA GCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAGA GCGAGACGCCATCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp1 HG03710.hp2 HG03831.hp1 others(2): Show HG02698.hp1 HG03710.hp2 HG03831.hp1 HG04228.hp1 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	5	364	0.0137	414	c.18 others(425): Show c.1862_*1863insGAGATGGCGTCTCGCTCTGTTGCCCAGGCTGGAG TGCAGTAGCACAATCTCGGCTCACTACAAGCTCCGCCTCCCGGTTTCACG CCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTACTCGCC ACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGGGTTTTCACC ATGTTCACCAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCAGCCTC GGCATCCCAAATATATATTTTTAAAGACAGGGTCTTCCTGTCACCCAGGC TGGAGAGCAGCAGGGCAATCATAGCTCACTGTAGCCTCAAACACCTCAAT CCTCCCACCTCAGCCTCCCAAGTAGCTGGGTCTACAAGTATGAGCTACCA TGCCTGCCTATTTTTTTTTTTTTTTTTTTT		MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding					1767		chr1	TogoVar
MRPL24_chr1_156732303_156746088	156735536	A A	AAAAAAAA others(407): Show AAAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGTAG ACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCTA CAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGAC CCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAAG GTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAAACCCGTCTCTAC TAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCCC AGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGGA GCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAGA GCGAGACGCCATCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0004 a0001c0001t0003g0004	1	364	0.0028	414	c.18 others(425): Show c.1861_*1862insGAGATGGCGTCTCGCTCTGTTGCCCAGGCTGGAG TGCAGTAGCACAATCTCGGCTCACTACAAGCTCCGCCTCCCGGTTTCACG CCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTACTCGCC ACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGGGTTTTCACC ATGTTCACCAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCAGCCTC GGCATCCCAAATATATATTTTTAAAGACAGGGTCTTCCTGTCACCCAGGC TGGAGAGCAGCAGGGCAATCATAGCTCACTGTAGCCTCAAACACCTCAAT CCTCCCACCTCAGCCTCCCAAGTAGCTGGGTCTACAAGTATGAGCTACCA TGCCTGCCTATTTTTTTTTTTTTTTTTTTT		MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding					1766		chr1	TogoVar
MRPL24_chr1_156732303_156746088	156735536	A A	AAAAAAAA others(407): Show AAAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGTAG ACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCTA CAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGAC CCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAAG GTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTAC TAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCCC AGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGGA GCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAGA GCGAGACGCCATCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG01516.hp1 HG02809.hp1 others(10): Show HG00099.hp2 HG01516.hp1 HG02809.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG03139.hp1 HG03471.hp1 HG03540.hp2 HG03688.hp1 NA19002.hp2 NA19030.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 others(4): Show a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0022 a0001c0001t0001g0045	13	364	0.0357	414	c.18 others(425): Show c.1861_*1862insGAGATGGCGTCTCGCTCTGTTGCCCAGGCTGGAG TGCAGTAGCACAATCTCGGCTCACTACAAGCTCCGCCTCCCGGTTTCACG CCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTACTCGCC ACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACC ATGTTCACCAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCAGCCTC GGCATCCCAAATATATATTTTTAAAGACAGGGTCTTCCTGTCACCCAGGC TGGAGAGCAGCAGGGCAATCATAGCTCACTGTAGCCTCAAACACCTCAAT CCTCCCACCTCAGCCTCCCAAGTAGCTGGGTCTACAAGTATGAGCTACCA TGCCTGCCTATTTTTTTTTTTTTTTTTTTT		MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding					1766		chr1	TogoVar
MRPL24_chr1_156732303_156746088	156735537	A A	AAAAAAAA others(407): Show AAAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGTAG ACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCTA CAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGAC CCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAAG GTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTAC TAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCCC AGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGGA GCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAGA GCGAGACGCCATCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG01934.hp1 NA18960.hp2 others(2): Show HG00735.hp2 HG01934.hp1 NA18960.hp2 NA19004.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0003 a0001c0001t0001g0006	5	364	0.0137	414	c.18 others(425): Show c.1860_*1861insGAGATGGCGTCTCGCTCTGTTGCCCAGGCTGGAG TGCAGTAGCACAATCTCGGCTCACTACAAGCTCCGCCTCCCGGTTTCACG CCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTACTCGCC ACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACC ATGTTCACCAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCAGCCTC GGCATCCCAAATATATATTTTTAAAGACAGGGTCTTCCTGTCACCCAGGC TGGAGAGCAGCAGGGCAATCATAGCTCACTGTAGCCTCAAACACCTCAAT CCTCCCACCTCAGCCTCCCAAGTAGCTGGGTCTACAAGTATGAGCTACCA TGCCTGCCTATTTTTTTTTTTTTTTTTTTT		MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding					1765		chr1	TogoVar
MSR1_chr8_16102881_16197651	16189408	T T	TATATATA others(407): Show TATATATAAAATCTTATTTTATATATATTTTATATATATAAAATCTTATT TTATATATATTTTATATATATAAAATCTTATTTTATATATATTTTATATA TATAAAATCTTATTTTATATATATTTATATATATTTTTATATATATAAAA TCTTATTTTATATATATTTTATATATATAAAATCTTATTTTATATATATT TTATATATATAAAATCTTATTTTATATATATTTTATATATATAAAATCTT ATTTTATATATATTTTATATATATAAAATCTTATTTTATATATTATATAT ATATAAAATCTTATTTTATATATATTTTATATATATAAAATCTTATTTTA TATATATTTTATATATATAAAATCTTATTTTATATATATTTTATATATAT AAAATCTTATTTTAG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02895.hp1 HG02897.hp2 HG02486.hp1 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0047 a0001c0001t0006g0048 a0001c0001t0006g0049 a0001c0001t0006g0047 a0001c0001t0006g0048 a0001c0001t0006g0049	3	330	0.0091	414	c.-5+ others(429): Show c.-5+3189_-5+3190insCTAAAATAAGATTTTATATATATAAAATAT ATATAAAATAAGATTTTATATATATAAAATATATATAAAATAAGATTTTA TATATATAAAATATATATAAAATAAGATTTTATATATATATAATATATAA AATAAGATTTTATATATATAAAATATATATAAAATAAGATTTTATATATA TAAAATATATATAAAATAAGATTTTATATATATAAAATATATATAAAATA AGATTTTATATATATAAAATATATATAAAATAAGATTTTATATATATAAA AATATATATAAATATATATAAAATAAGATTTTATATATATAAAATATATA TAAAATAAGATTTTATATATATAAAATATATATAAAATAAGATTTTATAT ATATAAAATATATATAAAATAAGATTTTATATAT		MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9						chr8	TogoVar
NACA_chr12_56707427_56730299	56717787	G G	GGAGTTGC others(407): Show GGAGTTGCAGCTGGGGTTGTGGGGGCCCCTTTGGGGGATGGGGTAGCTAG ACCTCCTTTTGGGGAAGGAGGAGTTGCAGCTGGGGTTGTGGGGGCCCCTT TTGGGGGTGGGGTAGCTAGACCTCCTTTTGGGGAAGGAGGAGTTGCAGCT GGGGTTGTGGGGGCCCCTTTTGGGGGTGGGGTAGCTAGACCTCCTTTTGG GGAGGGAGGAGTTGCAGCTGGGGTTGTGGGTGCCCCTTTGTGGGGTGGGG TAGCTAGACCTCCTTTTGGGGAGGGAGGAGTTGCAGCTGGGGGCATGGGG GCCCCTTTGGGGGATGGGGTAGCTGGGCCTCCTTTTGGGGAGGGAGGAGT CGCAGCTGGGGGAGTGGGGGCCCCCTTGAGGGATGGGGTAGCTGGACCTC CTTTTGGGGAGGGAA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01884.hp1 HG01884.hp1	a0022 a0022	a0022c0057 a0022c0057	a0022c0057t0001 a0022c0057t0001	a0022c0057t0001g0065 a0022c0057t0001g0065	1	366	0.0027	414	c.374 others(423): Show c.3742_3743insTTCCCTCCCCAAAAGGAGGTCCAGCTACCCCATCCC TCAAGGGGGCCCCCACTCCCCCAGCTGCGACTCCTCCCTCCCCAAAAGGA GGCCCAGCTACCCCATCCCCCAAAGGGGCCCCCATGCCCCCAGCTGCAAC TCCTCCCTCCCCAAAAGGAGGTCTAGCTACCCCACCCCACAAAGGGGCAC CCACAACCCCAGCTGCAACTCCTCCCTCCCCAAAAGGAGGTCTAGCTACC CCACCCCCAAAAGGGGCCCCCACAACCCCAGCTGCAACTCCTCCTTCCCC AAAAGGAGGTCTAGCTACCCCACCCCCAAAAGGGGCCCCCACAACCCCAG CTGCAACTCCTCCTTCCCCAAAAGGAGGTCTAGCTACCCCATCCCCCAAA GGGGCCCCCACAACCCCAGCTGCAACTC	p.Thr others(429): Show p.Thr1247_Pro1248insLeuProSerProLysGlyGlyProAlaThr ProSerLeuLysGlyAlaProThrProProAlaAlaThrProProSerPr oLysGlyGlyProAlaThrProSerProLysGlyAlaProMetProProA laAlaThrProProSerProLysGlyGlyLeuAlaThrProProHisLys GlyAlaProThrThrProAlaAlaThrProProSerProLysGlyGlyLe uAlaThrProProProLysGlyAlaProThrThrProAlaAlaThrProP roSerProLysGlyGlyLeuAlaThrProProProLysGlyAlaProThr ThrProAlaAlaThrProProSerProLysGlyGlyLeuAlaThrProSe rProLysGlyAlaProThrThrProAlaAlaThr	NACA	ENSG00000196531.14	transcript	ENST00000454682.6	protein_coding	3/9	3781/6387	3742/6237	1248/2078			chr12	TogoVar
NEU4_chr2_241804193_241822413	241806652	C C	CTCCCCCC others(407): Show CTCCCCCCTCAGCCCAGGGATGTCTGCAGGCCACCCTCCCTCCCTCCTCC CTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGG AACCTCCGCAGGCCACCCTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCT GCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCC TCCCTCCCCCCTCAACCCAGGGATGTCTGCAGGCCACCCTCCCTCCCTCC TCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAACCC AGGGATGTCTGCAGGCCACCCTCCCTCCCTCCTCCCTCAGCCCAGGGACC TCCGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGGATGTCTGCAGGCCA CCCTCCCTCCCTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0027 a0002c0003t0002g0027	1	319	0.0031	414	c.-26 others(425): Show c.-2626_-2625insTCCCCCCTCAGCCCAGGGATGTCTGCAGGCCACC CTCCCTCCCTCCTCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTC CCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCTCCCCCCTC AGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGAC CTCTGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGGATGTCTGCAGGCC ACCCTCCCTCCCTCCTCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCC CTCCCCCCTCAACCCAGGGATGTCTGCAGGCCACCCTCCCTCCCTCCTCC CTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAACCCAGG GATGTCTGCAGGCCACCCTCCCTCCCTCCT		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					2540		chr2	TogoVar
NFILZ_chr19_8625633_8686151	8678091	T T	TTCCATCC others(407): Show TTCCATCCATCCATCCATTCTTCCATCCACCCATTCATTAGTTTATCCAT CCTCACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCAT TCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCC TTCCATCCATTCATCCACTTGTCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATTTGTCCATCCATCCATCCACCTATCCATCCATCCGTCC GTCTGTCCCATCCGTCCATCCATCCGTCCGTCCGTCCATCCATCCATCCA TCCATCCATTCTTCCATCCATCCATCCATTCAGCCATCCATCCATCCATC CATTCCATCCATCCATCCATCCATTCTTCCATCCATCCATTCATTAGTTT ATCCATCCCCATCCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0062 a0001c0001t0062	a0001c0001t0062g0119 a0001c0001t0062g0119	1	366	0.0027	414	c.47 others(423): Show c.473_*474insTCTTCCATCCACCCATTCATTAGTTTATCCATCCTC ACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCATTCAT CCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCCTTCC ATCCATTCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATTTGTCCATCCATCCATCCACCTATCCATCCATCCGTCCGTCT GTCCCATCCGTCCATCCATCCGTCCGTCCGTCCATCCATCCATCCATCCA TCCATTCTTCCATCCATCCATCCATTCAGCCATCCATCCATCCATCCATT CCATCCATCCATCCATCCATTCTTCCATCCATCCATTCATTAGTTTATCC ATCCCCATCCATCCATCCATCCATCCAT		NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	6/6				474	INFO_REALIGN_3_PRIME	chr19	TogoVar
NFILZ_chr19_8625633_8686151	8678091	T T	TTCCATCC others(407): Show TTCCATCCATCCATCCATTCTTCCATCCACCCATTCATTAGTTTATCCAT CCTCACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCAT TCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCTTCC ATCCATTCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATTTGTCCATCCATCCATCCACCTATCCATCCATCC GTCCGTCTGTCCCATCCGTCCATCCATCCGTCCGTCCGTCCATCCATCCA TCCATCCATCCATTCTTCCATCCATCCATCCATTCAGCCATCCATCCATC CATCCATTCCATCCATCCATCCATCCATTCTTCCATCCATCCATTCATTA GTTTATCCATCCCCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01123.hp2 HG02165.hp2 NA18986.hp2 others(2): Show HG01123.hp2 HG02165.hp2 NA18986.hp2 NA19002.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0140 a0001c0001t0141 a0001c0001t0028 a0001c0001t0140 a0001c0001t0141	a0001c0001t0028g0247 a0001c0001t0028g0284 a0001c0001t0028g0365 others(2): Show a0001c0001t0028g0247 a0001c0001t0028g0284 a0001c0001t0028g0365 a0001c0001t0140g0085 a0001c0001t0141g0087	5	366	0.0137	414	c.47 others(423): Show c.473_*474insTCTTCCATCCACCCATTCATTAGTTTATCCATCCTC ACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCATTCAT CCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCTTCCATCC ATTCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATTTGTCCATCCATCCATCCACCTATCCATCCATCCGTCC GTCTGTCCCATCCGTCCATCCATCCGTCCGTCCGTCCATCCATCCATCCA TCCATCCATTCTTCCATCCATCCATCCATTCAGCCATCCATCCATCCATC CATTCCATCCATCCATCCATCCATTCTTCCATCCATCCATTCATTAGTTT ATCCATCCCCATCCATCCATCCATCCAT		NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	6/6				474	INFO_REALIGN_3_PRIME	chr19	TogoVar
NFILZ_chr19_8625633_8686151	8678091	T T	TTCCATCC others(407): Show TTCCATCCATCCATCCATTCTTCCATCCACCCATTCATTAGTTTATCCAT CCTCACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCAT TCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCTTCC ATCCATTCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATTTGTCCATCCATCCATCCACCTATCCATCCATCCGTCC GTCTGTCCCATCCGTCCATCCATCCGTCCGTCCGTCCATCCATCCATCCA TCCATCCATTCTTCCATCCATCCATCCATTCAGCCATCCATCCATCCATC CATTCCATCCATCCATCCATCCATTCTTCCATCCATCCATTCATTAGTTT ATCCATCCCCATCCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01433.hp1 HG01891.hp1 HG02083.hp1 others(8): Show HG01433.hp1 HG01891.hp1 HG02083.hp1 HG02738.hp2 HG06807.hp2 NA19009.hp2 NA19030.hp1 NA19043.hp1 NA19070.hp1 NA19091.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0022 a0001c0001t0144 others(2): Show a0001c0001t0021 a0001c0001t0022 a0001c0001t0144 a0001c0001t0145 a0001c0001t0146	a0001c0001t0021g0012 a0001c0001t0021g0069 a0001c0001t0021g0201 others(8): Show a0001c0001t0021g0012 a0001c0001t0021g0069 a0001c0001t0021g0201 a0001c0001t0021g0363 a0001c0001t0022g0082 a0001c0001t0022g0103 a0001c0001t0022g0133 a0001c0001t0022g0137 a0001c0001t0144g0013 a0001c0001t0145g0280 a0001c0001t0146g0055	11	366	0.0301	414	c.47 others(423): Show c.473_*474insTCTTCCATCCACCCATTCATTAGTTTATCCATCCTC ACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCATTCAT CCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCTTCCATCC ATTCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATTTGTCCATCCATCCATCCACCTATCCATCCATCCGTCCGTCT GTCCCATCCGTCCATCCATCCGTCCGTCCGTCCATCCATCCATCCATCCA TCCATTCTTCCATCCATCCATCCATTCAGCCATCCATCCATCCATCCATT CCATCCATCCATCCATCCATTCTTCCATCCATCCATTCATTAGTTTATCC ATCCCCATCCATCCATCCATCCATCCAT		NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	6/6				474	INFO_REALIGN_3_PRIME	chr19	TogoVar
NFILZ_chr19_8625633_8686151	8678091	T T	TTCCATCC others(407): Show TTCCATCCATCCATCCATTCTTCCATCCACCCATTCATTAGTTTATCCAT CCTCACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCAT TCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCTTCC ATCCATTCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATTTGTCCATCCATCCATCCACCTATCCATCCATCCGTCC GTCTGTCCCATCCGTCCGTCCATCCGTCCGTCCGTCCATCCATCCATCCA TCCATCCATTCTTCCATCCATCCATCCATTCAGCCATCCATCCATCCATC CATTCCATCCATCCATCCATCCATTCTTCCATCCATCCATTCATTAGTTT ATCCATCCCCATCCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0164 a0001c0001t0164	a0001c0001t0164g0094 a0001c0001t0164g0094	1	366	0.0027	414	c.47 others(423): Show c.473_*474insTCTTCCATCCACCCATTCATTAGTTTATCCATCCTC ACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCATTCAT CCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCTTCCATCC ATTCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATTTGTCCATCCATCCATCCACCTATCCATCCATCCGTCCGTCT GTCCCATCCGTCCGTCCATCCGTCCGTCCGTCCATCCATCCATCCATCCA TCCATTCTTCCATCCATCCATCCATTCAGCCATCCATCCATCCATCCATT CCATCCATCCATCCATCCATTCTTCCATCCATCCATTCATTAGTTTATCC ATCCCCATCCATCCATCCATCCATCCAT		NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	6/6				474	INFO_REALIGN_3_PRIME	chr19	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTGTAC others(407): Show CTGTGTACAGCATGTATACTGTGTACAGCATGTATACTGTGTACAGCATG TATACTGTATACAGCATGTATACTGTATGTATGTATACTGTATGTATGTA TACTGTATGTATGTATACCGTATATATACACAGTATGTATACCGTATATA TACACAGTATGTATACCGTATATATACACAGTATGTATACCGTATATATA CACAGTATGTATACCGTATATATACACAGTATGTATACCGTATATATACA CAGTATGTATACCGTATATATACACAGTATGTATACTGTGTATGCAGTAT GTATACAGTATACATACTGCATGCAGTATGTATACTGTATACATACTGCA TGCAGTATGTATACTGTATATATACACTATACAGTATGTATACTGTATAT ATACACTATACAGTA	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0087 a0001c0003t0002g0087	1	362	0.0028	414	c.-75 others(433): Show c.-75+17711_-75+17712insTACTGTATAGTGTATATATACAGTAT ACATACTGTATAGTGTATATATACAGTATACATACTGCATGCAGTATGTA TACAGTATACATACTGCATGCAGTATGTATACTGTATACATACTGCATAC ACAGTATACATACTGTGTATATATACGGTATACATACTGTGTATATATAC GGTATACATACTGTGTATATATACGGTATACATACTGTGTATATATACGG TATACATACTGTGTATATATACGGTATACATACTGTGTATATATACGGTA TACATACTGTGTATATATACGGTATACATACATACAGTATACATACATAC AGTATACATACATACAGTATACATGCTGTATACAGTATACATGCTGTACA CAGTATACATGCTGTACACAGTATACATGCTGTACACA		NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14						chr2	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTGTAC others(407): Show CTGTGTACAGCATGTATACTGTGTACAGCATGTATACTGTGTACAGCATG TATACTGTATGTATGTATACTGTATGTATGTATACTGTATGTATGTATAC CGTATATATACACAGTATGTATACCGTATATATACACAGTATGTATACCG TATATATACACAGTATGTATACCGTATATATACACAGTATGTATACCGTA TATATACACAGTATGTATACCGTATATATACACAGTATGTATACCGTATA TATACACAGTATGTATACCGTATATATACACAGTATGTATACTGTGTATG CAGTATGTATACTGTATATATACACTATACAGTATGTATACTGTATATAT ACACTATACAGTATGTATACTGTATATATACACACAGTATGTATACTGTA TATATACACACAGTA	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0137 a0001c0001t0013g0137	1	362	0.0028	414	c.-75 others(433): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTGTGTATATATACAGTATACATACTGTATAGTGTATATATACAGT ATACATACTGTATAGTGTATATATACAGTATACATACTGCATACACAGTA TACATACTGTGTATATATACGGTATACATACTGTGTATATATACGGTATA CATACTGTGTATATATACGGTATACATACTGTGTATATATACGGTATACA TACTGTGTATATATACGGTATACATACTGTGTATATATACGGTATACATA CTGTGTATATATACGGTATACATACTGTGTATATATACGGTATACATACA TACAGTATACATACATACAGTATACATACATACAGTATACATGCTGTACA CAGTATACATGCTGTACACAGTATACATGCTGTACACA		NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14						chr2	TogoVar
NOTCH1_chr9_136489433_136551048	136535916	C C	CGGGGCAA others(407): Show CGGGGCAATGAGTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTC CTGGGGCAATGGGTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCT CCTGGGGCAATGGGTGCATGGTGGGTGGGGGGGAGCACTCAGGATCCCTC CTGGGGCAATGGGTGCAGGGTGGGTGGGGGGGAGCACTCAGGATCCCTCC TGGGGCAATGAGTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTC CTGGGGCAATGGGTGCATGGTGGGAGTGGGTGGAGGGGGGAGCACTCAGG ATCCCTCCTGGGGCAATGGGTGCATGGTGGGAGTGGGTGGAGGGGGGAGC ACTCAGGATCCCTCCTGGGGCAATGGGTGCAGGGTGGGTGGGGGGGAGCA CTCAGGATCCCTCCT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02895.hp2 HG02630.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0315 a0001c0001t0001g0201 a0001c0001t0001g0315	2	324	0.0062	414	c.140 others(431): Show c.140+8107_140+8108insAGGAGGGATCCTGAGTGCTCCCCCCCAC CCACCCTGCACCCATTGCCCCAGGAGGGATCCTGAGTGCTCCCCCCTCCA CCCACTCCCACCATGCACCCATTGCCCCAGGAGGGATCCTGAGTGCTCCC CCCTCCACCCACTCCCACCATGCACCCATTGCCCCAGGAGGGATCCTGAG TGCTCCCCTCTCCACCCACCCTGCACTCATTGCCCCAGGAGGGATCCTGA GTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCAGGAGGGATCCTGAG TGCTCCCCCCCACCCACCATGCACCCATTGCCCCAGGAGGGATCCTGAGT GCTCCCCTCTCCACCCACCCTGCACCCATTGCCCCAGGAGGGATCCTGAG TGCTCCCCTCTCCACCCACCCTGCACTCATTGCCCC		NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33						chr9	TogoVar
NXN_chr17_794310_984776	948876	T T	TCCCCCCG others(407): Show TCCCCCCGGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCCCTGCCT CCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCC TGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTC TCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCGCGGCCTC CTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCG CTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTC TCCCCCCTGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCCCGGCCT CCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCC CTGCCTCCTCCTCTC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	242	0.0041	414	c.360 others(433): Show c.360+30442_360+30443insGAGAGGAGGAGGCAGGGGGGAGAGGA GGAGGCAGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCGGGGGG AGAGGAGGAGGCCGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGC AGGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCAGCGGGGAGAGGA GGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCGCGGG GAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGC AGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGAGAGGA GGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCAGGGGGG AGAGGAGGAGGCCGGGGGGAGAGGAGGAGGCCGGGGGG		NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7						chr17	TogoVar
OPRM1_chr6_154034240_154137356	154100188	C C	CATATATC others(407): Show CATATATCATAATATATATTATCATATTATGACATATATCATAATATATA TTATCATATTATGACATATATCATAATATATATTATCATATTATGACATA TATCATAATATATATTATCATATTATGACATATATCATAATATATATTAT CATATTATGACATATATCATAATATATATTATCATATTATGACATATATC ATAATATATAATCATATTATGACATATATCATAATATATAATCATATTAT GACATATATCATAATATATATAATCATATTATGACATATATCATAATATA TATTATCATATTATGACATATATCATAATATATATTATCATATTATGACA TATATCATAATATATATTATCATATTATGACATATATCATAATATATATT ATCATATTATGACAT	intron_variant intron_variant	MODIFIER	HG00609.hp2 NA18946.hp1 NA18947.hp1 others(2): Show HG00609.hp2 NA18946.hp1 NA18947.hp1 NA18951.hp2 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0120 a0001c0001t0004 a0001c0001t0120	a0001c0001t0004g0252 a0001c0001t0004g0253 a0001c0001t0004g0254 others(2): Show a0001c0001t0004g0252 a0001c0001t0004g0253 a0001c0001t0004g0254 a0001c0001t0004g0261 a0001c0001t0120g0255	5	268	0.0187	414	c.116 others(433): Show c.1164+8720_1164+8721insATCATAATATATATTATCATATTATG ACATATATCATAATATATATTATCATATTATGACATATATCATAATATAT ATTATCATATTATGACATATATCATAATATATATTATCATATTATGACAT ATATCATAATATATATTATCATATTATGACATATATCATAATATATATTA TCATATTATGACATATATCATAATATATAATCATATTATGACATATATCA TAATATATAATCATATTATGACATATATCATAATATATATAATCATATTA TGACATATATCATAATATATATTATCATATTATGACATATATCATAATAT ATATTATCATATTATGACATATATCATAATATATATTATCATATTATGAC ATATATCATAATATATATTATCATATTATGACATATAT		OPRM1	ENSG00000112038.18	transcript	ENST00000330432.12	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr6	TogoVar
OPRM1_chr6_154034240_154137356	154100218	C C	CATATATC others(407): Show CATATATCATAATATATATTATCATATTATGACATATATCATAATATATA TTATCATATTATGACATATATCATAATATATATTATCATATTATGACATA TATCATAATATATATTATCATATTATGACATATATCATAATATATATTAT CATATTATGACATATATCATAATATATAATCATATTATGACATATATCAT AATATATAATCATATTATGACATATATCATAATATATATTATCATATTAT GACATATATCATAATATATATTATCATATTATGACATATATCATAATATA TATTATCATATTATGACATATATCATAATATATATTATCATATTATGACA TATATCATAATATATATTATCATATTATGACATATATCATAATATATATT ATCATATTATGACAT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01123.hp1 HG01261.hp2 others(6): Show HG00673.hp1 HG01123.hp1 HG01261.hp2 HG01978.hp2 HG03017.hp2 HG03704.hp2 HG03927.hp1 NA18942.hp2 NA19011.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 others(3): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0001c0001t0100 a0001c0001t0119 a0004c0005t0004	a0001c0001t0003g0190 a0001c0001t0004g0251 a0001c0001t0010g0257 others(6): Show a0001c0001t0003g0190 a0001c0001t0004g0251 a0001c0001t0010g0257 a0001c0001t0010g0258 a0001c0001t0010g0260 a0001c0001t0100g0136 a0001c0001t0119g0244 a0004c0005t0004g0247 a0004c0005t0004g0248	9	268	0.0336	414	c.116 others(433): Show c.1164+8750_1164+8751insATCATAATATATATTATCATATTATG ACATATATCATAATATATATTATCATATTATGACATATATCATAATATAT ATTATCATATTATGACATATATCATAATATATATTATCATATTATGACAT ATATCATAATATATATTATCATATTATGACATATATCATAATATATAATC ATATTATGACATATATCATAATATATAATCATATTATGACATATATCATA ATATATATTATCATATTATGACATATATCATAATATATATTATCATATTA TGACATATATCATAATATATATTATCATATTATGACATATATCATAATAT ATATTATCATATTATGACATATATCATAATATATATTATCATATTATGAC ATATATCATAATATATATTATCATATTATGACATATAT		OPRM1	ENSG00000112038.18	transcript	ENST00000330432.12	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr6	TogoVar
OPRM1_chr6_154034240_154137356	154100218	C C	CATATATC others(407): Show CATATATCATAATATATATTATCATATTATGACATATATCATAATATATA TTATCATATTATGACATATATCATAATATATATTATCATATTATGACATA TATCATAATATATATTATCATATTATGACATATATCATAATATATATTAT CATATTATGACATATATCATAATATATAATCATATTATGACATATATCAT AATATATAATCATATTATGACATATATCATAATATATATTATCATATTAT GACATATATCATAATATATATTATCATATTATGACATATGTCATAATATA TATTATCATATTATGACATATATCATAATATATATTATCATATTATGACA TATATCATAATATATATTATCATATTATGACATATATCATAATATATATT ATCATATTATGACAT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0249 a0001c0001t0004g0249	1	268	0.0037	414	c.116 others(433): Show c.1164+8750_1164+8751insATCATAATATATATTATCATATTATG ACATATATCATAATATATATTATCATATTATGACATATATCATAATATAT ATTATCATATTATGACATATATCATAATATATATTATCATATTATGACAT ATATCATAATATATATTATCATATTATGACATATATCATAATATATAATC ATATTATGACATATATCATAATATATAATCATATTATGACATATATCATA ATATATATTATCATATTATGACATATATCATAATATATATTATCATATTA TGACATATGTCATAATATATATTATCATATTATGACATATATCATAATAT ATATTATCATATTATGACATATATCATAATATATATTATCATATTATGAC ATATATCATAATATATATTATCATATTATGACATATAT		OPRM1	ENSG00000112038.18	transcript	ENST00000330432.12	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr6	TogoVar
OTOG_chr11_17542259_17651044	17552549	C C	CCCCACCT others(407): Show CCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTG TGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGT CCTGTGTCCCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCCCCCAC CTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTACTGTGTCTC CCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTG TCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCC TGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTATGTCCCTCACCT GTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCTCCC ACCTGTCCTGTGTCT	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0123 a0123	a0123c0115 a0123c0115	a0123c0115t0001 a0123c0115t0001	a0123c0115t0001g0202 a0123c0115t0001g0202	1	268	0.0037	414	c.292 others(429): Show c.292+509_292+510insCCCCACCTGTCCTGTGTCCCCCACCTGTCC TGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCT GTCCTGTGTCCCTCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCC ACCTGTCCTGTGTCCCTCACCTGTACTGTGTCTCCCACCTGTCCTGTGTC CCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCTCCCACCTGTCCTG TGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGT CCTGTGTCTCCCACCTGTCCTATGTCCCTCACCTGTCCTGTGTCTCCCAC CTGTCCTGTGTCCCTCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCTC CCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTC		OTOG	ENSG00000188162.12	transcript	ENST00000399397.6	protein_coding	4/55					INFO_REALIGN_3_PRIME	chr11	TogoVar
OTOG_chr11_17542259_17651044	17552549	C C	CCCCACCT others(407): Show CCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTG TGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGT CCTGTGTCCCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCCCCCAC CTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTACTGTGTCTC CCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTG TCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCC TGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCT GTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCTCCC ACCTGTCCTGTGTCT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00673.hp1 HG00733.hp1 others(20): Show HG00280.hp2 HG00673.hp1 HG00733.hp1 HG01099.hp1 HG01109.hp1 HG01257.hp2 HG01261.hp2 HG01515.hp2 HG02145.hp2 HG02148.hp2 HG03225.hp1 HG03453.hp1 HG03492.hp2 HG03516.hp1 HG03942.hp2 NA18906.hp1 NA18967.hp2 NA18970.hp2 NA18983.hp2 NA18985.hp1 NA19009.hp1 NA19066.hp1 NA20752.hp2	a0001 a0002 a0003 others(13): Show a0001 a0002 a0003 a0004 a0006 a0008 a0009 a0010 a0014 a0022 a0033 a0035 a0088 a0095 a0101 a0121	a0001c0001 a0002c0006 a0003c0002 others(14): Show a0001c0001 a0002c0006 a0003c0002 a0004c0008 a0006c0029 a0008c0076 a0009c0086 a0010c0004 a0010c0047 a0014c0005 a0022c0019 a0033c0015 a0035c0174 a0088c0064 a0095c0087 a0101c0070 a0121c0063	a0001c0001t0001 a0002c0006t0001 a0003c0002t0001 others(14): Show a0001c0001t0001 a0002c0006t0001 a0003c0002t0001 a0004c0008t0001 a0006c0029t0001 a0008c0076t0001 a0009c0086t0001 a0010c0004t0002 a0010c0047t0002 a0014c0005t0001 a0022c0019t0001 a0033c0015t0002 a0035c0174t0001 a0088c0064t0001 a0095c0087t0001 a0101c0070t0001 a0121c0063t0001	a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0208 others(20): Show a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0208 a0001c0001t0001g0210 a0002c0006t0001g0264 a0002c0006t0001g0265 a0003c0002t0001g0206 a0004c0008t0001g0209 a0006c0029t0001g0211 a0008c0076t0001g0213 a0009c0086t0001g0216 a0010c0004t0002g0212 a0010c0047t0002g0205 a0014c0005t0001g0203 a0014c0005t0001g0204 a0022c0019t0001g0207 a0033c0015t0002g0248 a0033c0015t0002g0249 a0035c0174t0001g0246 a0088c0064t0001g0214 a0095c0087t0001g0215 a0101c0070t0001g0247 a0121c0063t0001g0009	23	268	0.0858	414	c.292 others(429): Show c.292+509_292+510insCCCCACCTGTCCTGTGTCCCCCACCTGTCC TGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCT GTCCTGTGTCCCTCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCC ACCTGTCCTGTGTCCCTCACCTGTACTGTGTCTCCCACCTGTCCTGTGTC CCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCTCCCACCTGTCCTG TGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGT CCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCTCCCAC CTGTCCTGTGTCCCTCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCTC CCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTC		OTOG	ENSG00000188162.12	transcript	ENST00000399397.6	protein_coding	4/55					INFO_REALIGN_3_PRIME	chr11	TogoVar
PAK2_chr3_196734857_196837647	196811321	T T	TCCTTCCT others(407): Show TCCTTCCTTCCTTTCCTTCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTTC CTTTCCTTCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCC TCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTT CCTTCCCTCCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTTC CTTCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCT TCCTTCCCTTCCTTCCCTTCCCTCCCTCCCCTCCCTTCCCTCCCTCCCTC CCTCCCTTCCTTCCCTTCCCTCCCTTCCCTCCCTTCCCTCCCTCCCTTCC CTCCCTTCCTTCCCTTCCTTTCCTTCCTTTCCTTCCTTCCTTCCCTTCCC TCCCTTCCTTCCCTC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0004 a0001c0002t0001g0004	1	178	0.0056	414	c.773 others(429): Show c.773+674_773+675insTTCCTTTCCTTCCTTCCTTCCCTTCCCTCC CTTCCTTCCCTTCCTTTCCTTCCTTCCTTCCCTTCCCTCCCTTCCTTCCC TCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTT CCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTTCCTTCC CTCCCTTCCTTTCCTTCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTCCCT TCCTTCCCTCCCTTCCTTCCCTTCCTTCCCTTCCCTCCCTCCCCTCCCTT CCCTCCCTCCCTCCCTCCCTTCCTTCCCTTCCCTCCCTTCCCTCCCTTCC CTCCCTCCCTTCCCTCCCTTCCTTCCCTTCCTTTCCTTCCTTTCCTTCCT TCCTTCCCTTCCCTCCCTTCCTTCCCTCCCTTCC		PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	8/14					INFO_REALIGN_3_PRIME	chr3	TogoVar
PDCD6_chr5_266646_319974	318246	C C	CACCTCCC others(407): Show CACCTCCCCCAATCCTTCACCTCCCCCCTCCCTTCATCTCCCCCCTCACC CTCCACCTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCACCTCCCGCC CTCACCCTGCACCTCCCCCCATCCTTTACCTCCCCCCACCCTCCATCTGC CCCCAACCCTGCACCTCCCCCAATCCTTCACCTCCCCCCTCCCTTCATCT CCCCCCTCACCCTCCACCTCCCCCCCGCACCCTGCACCTCCCACCCTTAC CCTGCACCTCTCCCCATCTTTTACCTCCCCCCACCCTCCATCTCCCCCAA CCCTGCACCTCCCCCATCCTTCACCTCCCCCACTCACCCTCCACCTCCCC CCCACCCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCAC CTCCCCCCATCCTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG01975.hp1 HG03704.hp2 others(2): Show HG00738.hp1 HG01975.hp1 HG03704.hp2 NA18951.hp2 NA18982.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0030 a0001c0002t0001g0048 a0001c0002t0001g0049 others(2): Show a0001c0002t0001g0030 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0051 a0001c0002t0001g0139	5	360	0.0139	414	c.37 others(425): Show c.3731_*3732insACCTCCCCCAATCCTTCACCTCCCCCCTCCCTTC ATCTCCCCCCTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCCCTCCC CCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCATCCTTTACCTCCCC CCACCCTCCATCTGCCCCCAACCCTGCACCTCCCCCAATCCTTCACCTCC CCCCTCCCTTCATCTCCCCCCTCACCCTCCACCTCCCCCCCGCACCCTGC ACCTCCCACCCTTACCCTGCACCTCTCCCCATCTTTTACCTCCCCCCACC CTCCATCTCCCCCAACCCTGCACCTCCCCCATCCTTCACCTCCCCCACTC ACCCTCCACCTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCACCTCCC GCCCTCACCCTGCACCTCCCCCCATCCTTT		PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding					3273		chr5	TogoVar
PHACTR3_chr20_59599540_59852711	59674362	T T	TCCCCTTC others(407): Show TCCCCTTCTCCTGTTCCTTCCCCTTCTCCTGTTCCTCCTTCTCCTGTTCC TTCCCCTTCTCCTGTCCCCCCTTCTCCTGTTCCTTCCCCTTCTCCTGTCC CCCCTTCTCCTGTTCCTTCCCCTTCTCCTGTCCCCCCTTCTCCTGTTCCT TCCCCTTCTCCTGTCCCCCCTTCTCCTGTTCCTTCCCCTTCTCCTGTCCC CCCTTCTCCTGTTCCTTCCCCTTCTCCTGTTCCTCCTTCTCCTGTTCCTT CCCCTTCTCCTGTTCCCCCTTCTCCTGTTCCTTCCCCTTCTCCTGTTCCT TCCCCTTCTCCTGTCCCCCCTTCTCCTGTTCCTTCCCCTTCTCCTGTTCC TCCTTCTCCTGTTCCTTCCCCTTCTCCTGTCCCCCCTTCTCCTGTTCCTT CCCCTTCTCCTGTCC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0127 a0001c0001t0003g0127	1	250	0.0040	414	c.119 others(433): Show c.119-68646_119-68645insCCCCTTCTCCTGTTCCTTCCCCTTCT CCTGTCCCCCCTTCTCCTGTTCCTTCCCCTTCTCCTGTCCCCCCTTCTCC TGTTCCTTCCCCTTCTCCTGTCCCCCCTTCTCCTGTTCCTTCCCCTTCTC CTGTTCCTCCTTCTCCTGTTCCTTCCCCTTCTCCTGTTCCCCCTTCTCCT GTTCCTTCCCCTTCTCCTGTTCCTTCCCCTTCTCCTGTCCCCCCTTCTCC TGTTCCTTCCCCTTCTCCTGTTCCTCCTTCTCCTGTTCCTTCCCCTTCTC CTGTCCCCCCTTCTCCTGTTCCTTCCCCTTCTCCTGTCCCCCCTTCTCCT GTTCCTTCCCCTTCTCCTGTTCCTCCTTCTCCTGTTCCTTCCCCTTCTCC TGTCCCCCCTTCTCCTGTTCCTTCCCCTTCTCCTGTCC		PHACTR3	ENSG00000087495.17	transcript	ENST00000371015.6	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr20	TogoVar
PIMREG_chr17_6439455_6456469	6455713	G G	GGGGGAAG others(407): Show GGGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGAGGGGGAAGAGGGGAGGG AGGGGAGGGGGAAGAGGGGAGGGAGGAGATGGGAGGGGGAAGAGGGGAAG GGAGGGGAGGGGGAATAGGGGAGGGGAGAGGAGGGAAGAGGGGAGGGGGA AGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAG AGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGAAGAGG GGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGG AAGGGAGGGGAGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAG GGGGGGAAGAGGGGAAGGGGAGAGGAGGGGAGGGGAGAGGAGGGAAGGGG GAAGAGGGGATGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	312	0.0032	414	c.53 others(425): Show c.5366_*5367insGGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGAGG GGGAAGAGGGGAGGGAGGGGAGGGGGAAGAGGGGAGGGAGGAGATGGGAG GGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGGGAGGGGAGAGGAGGG AAGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGG GAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGA GGGGAGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGG GAGGGGGAAGAGGGGAAGGGAGGGGAGGGGAAGAGGGGAAGGGAGGGGAG GGGGAAGAGGGGAAGGGGGGGAAGAGGGGAAGGGGAGAGGAGGGGAGGGG AGAGGAGGGAAGGGGGAAGAGGGGATGGGA		PIMREG	ENSG00000129195.16	transcript	ENST00000572447.6	protein_coding					4245		chr17	TogoVar
PPP2R2D_chr10_131896008_131964834	131949712	G G	GGAACATC others(407): Show GGAACATCTAGAAATGACAAGTATGATACATGACCGCCAAACATGACGTG GAGACTGGAAAGGAGTCAGAGAACATCTAGAAATGACAAGTATGATACAT GACCGCCAAACATGACGTGGAGACTGGAAAGGAGTCAGAGAACATCTAGA AATGACAAGTATGATACATGACCGCCAAACATGACGTGGAGACTGGAAAG GAGTCAGAGAACATCTAGAAATGACAAGTATGATACATGACCGCCAAACA TGACGTGGAGACTGGAAAGGAGTCAGAGAACATCTAGAAATGACAAGTAT GATACATGACCGCCAAACATGACGTGGAGACTGGAAAGGAGTCAGAGAAC ATCTAGAAATGACAAGTATGATACATGACCGCCAAACATGACGTGGAGAC TGGAAAGGAGTCAGA	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18946.hp1 NA18945.hp2 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0059 a0001c0001t0013g0161 a0001c0001t0013g0059 a0001c0001t0013g0161	2	394	0.0051	414	c.108 others(433): Show c.1082+2291_1082+2292insTACATGACCGCCAAACATGACGTGGA GACTGGAAAGGAGTCAGAGAACATCTAGAAATGACAAGTATGATACATGA CCGCCAAACATGACGTGGAGACTGGAAAGGAGTCAGAGAACATCTAGAAA TGACAAGTATGATACATGACCGCCAAACATGACGTGGAGACTGGAAAGGA GTCAGAGAACATCTAGAAATGACAAGTATGATACATGACCGCCAAACATG ACGTGGAGACTGGAAAGGAGTCAGAGAACATCTAGAAATGACAAGTATGA TACATGACCGCCAAACATGACGTGGAGACTGGAAAGGAGTCAGAGAACAT CTAGAAATGACAAGTATGATACATGACCGCCAAACATGACGTGGAGACTG GAAAGGAGTCAGAGAACATCTAGAAATGACAAGTATGA		PPP2R2D	ENSG00000175470.20	transcript	ENST00000455566.6	protein_coding	8/8					INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKCZ_chr1_2045411_2190395	2122952	G G	GGTAGTTA others(407): Show GGTAGTTAGGGTCATGGCTGTAGTTAGGATCATGGCTGTAGTTAGGGTCA TGGTGGTAGTTAGGGTCACGGTGGTAGTTAGGGTCATGGTGGTAGTTAGG GTCATGGTGGTAGTTAGCGTCATGGTGGTAGTTAGGGTCATGGCTGTAGT TAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCGG TAGTTAGGATCATGGCTGTAGTTAGGATCATGGCTGTAGTTAGGGTCATG GTGGTAGTTAGGGTCACGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGT CATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTA GGGTCACGGCGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTA GTTAGGGTCACGGCT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	286	0.0035	414	c.335 others(433): Show c.335-12294_335-12293insCTGTAGTTAGGATCATGGCTGTAGTT AGGGTCATGGTGGTAGTTAGGGTCACGGTGGTAGTTAGGGTCATGGTGGT AGTTAGGGTCATGGTGGTAGTTAGCGTCATGGTGGTAGTTAGGGTCATGG CTGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTC ACGGCGGTAGTTAGGATCATGGCTGTAGTTAGGATCATGGCTGTAGTTAG GGTCATGGTGGTAGTTAGGGTCACGGTGGTAGTTAGGGTCATGGTGGTAG TTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCT GTAGTTAGGGTCACGGCGGTAGTTAGGATCATGGCTGTAGTTAGGGTCAT GGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGG		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2123646	G G	GGTAGTTA others(407): Show GGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCA CGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGG GTCATGGTGGTAGTTAGGGTCGTGGTGGTAGTTAGGGTCACGGCTGTAGT TAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGG TAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCACG GCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCGTGGTGGTAGTTAGGGT CACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTA GGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTA GTTAGGGTCACGGCT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0088 a0001c0003t0001g0088	1	286	0.0035	414	c.335 others(433): Show c.335-11607_335-11606insATCATGGCTGTAGTTAGGGTCATGGT GGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCA CGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCGTGGTGGTAGTTAGG GTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGT TAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGG TAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCGTG GTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGAT CATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTG GGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGG		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
PWWP2B_chr10_132392200_132422859	132392490	A A	ATGATGGT others(407): Show ATGATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGATGAT GGTGATGGTGATGATGGTGGTGGTGGTGATAATGGTGATGGTGATGGTGG TGGTAATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATG GTAGTGGTGATGGGGGTGGTGGTAATGGTGATGATGGTGATGGTGATGAT GGTGGTGGTGGTGATAATGGTGATGGTGGTGGTGGTGGTAATGGTGATGG TGATGATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATG ATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGATGATGGT GATGGTGATGATGGTGATGATGATGGTGGTGGTGGTGATAATGGTGATGG TGGTGATGGTGGTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0255 a0001c0001t0001g0255	1	374	0.0027	414	c.-47 others(425): Show c.-4737_-4736insTGATGGTGATGGTGATGGTAGTGGTGATGGGGGT GGTGGTAATGATGATGGTGATGGTGATGATGGTGGTGGTGGTGATAATGG TGATGGTGATGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATG ATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGGTGATGAT GGTGATGGTGATGATGGTGGTGGTGGTGATAATGGTGATGGTGGTGGTGG TGGTAATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATG ATGGTGATGGTGATGATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGT GGTAATGATGATGGTGATGGTGATGATGGTGATGATGATGGTGGTGGTGG TGATAATGGTGATGGTGGTGATGGTGGTGG		PWWP2B	ENSG00000171813.14	transcript	ENST00000305233.6	protein_coding					4709		chr10	TogoVar
PWWP2B_chr10_132392200_132422859	132392560	A A	AATGGTGA others(407): Show AATGGTGATGATGGTGATGGTGATGATGGTGGTGGTGGTGATAATGGTGA TGGTGATGGTGGTGGTAATGGTGATGATGGTGATGGTGATGATGATGGTG GTGGTGGTGATAACGGTGATGGTGATGGTGGTGGTGGTAATGGTGATGGT GATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGG TGATGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATGATG GTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGATGATGGTGAT GGTGATGATGGTGGTGGTGGTGATAATGGTGATGGTGATGGTGGTGGTAA TGGTGATGGTGATGATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTG GTAATGATGATGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0197 a0002c0002t0001g0197	1	374	0.0027	414	c.-46 others(425): Show c.-4667_-4666insATGGTGATGATGGTGATGGTGATGATGGTGGTGG TGGTGATAATGGTGATGGTGATGGTGGTGGTAATGGTGATGATGGTGATG GTGATGATGATGGTGGTGGTGGTGATAACGGTGATGGTGATGGTGGTGGT GGTAATGGTGATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGG TGATGATGGTGATGGTGATGGTGGTGGTGGTAATGGTGATGGTGATGATG GTGATGGTGATGATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGT AATGATGATGGTGATGGTGATGATGGTGGTGGTGGTGATAATGGTGATGG TGATGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATGGTAGTG GTGATGGGGGTGGTGGTAATGATGATGGTG		PWWP2B	ENSG00000171813.14	transcript	ENST00000305233.6	protein_coding					4639		chr10	TogoVar
PXDNL_chr8_51314577_51814445	51696870	T T	TACACACA others(407): Show TACACACAGGTCCACACACATACACAGGCCCACACACATACACACACAGG TCCACGCACATCCACACACACCGGTCCACGCACATCCACACACAGGTCCA CACACATACACACACATACGTCCACACACATCCACACACACACACACACA CACACAGGTCCACACACATCCAAACACAGGCCCACACACATCCACACACA CAGGTCCACACATATCCACACACACAGGTCCACACATATACACATACACA GTTCCACACACAACCACACACAGGTCCACACACATCCACATACAGGTCCA TGCACATACACACACAGGTCCACACACATACACATACACAGTTCCACACA CATCCACACACAAGTCCACACACATCCACACGCACGTCCACGCATCCACA CACAGGTCCACACAC	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0102 a0001c0001t0002g0102	1	122	0.0082	414	c.165 others(433): Show c.165-42111_165-42110insGTGTGTGGACCTGTGTGTGGATGCGT GGACGTGCGTGTGGATGTGTGTGGACTTGTGTGTGGATGTGTGTGGAACT GTGTATGTGTATGTGTGTGGACCTGTGTGTGTATGTGCATGGACCTGTAT GTGGATGTGTGTGGACCTGTGTGTGGTTGTGTGTGGAACTGTGTATGTGT ATATGTGTGGACCTGTGTGTGTGGATATGTGTGGACCTGTGTGTGTGGAT GTGTGTGGGCCTGTGTTTGGATGTGTGTGGACCTGTGTGTGTGTGTGTGT GTGTGTGGATGTGTGTGGACGTATGTGTGTGTATGTGTGTGGACCTGTGT GTGGATGTGCGTGGACCGGTGTGTGTGGATGTGCGTGGACCTGTGTGTGT ATGTGTGTGGGCCTGTGTATGTGTGTGGACCTGTGTGT		PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	1/22						chr8	TogoVar
PXDNL_chr8_51314577_51814445	51696870	T T	TACACACA others(407): Show TACACACAGGTCCACACACATACACAGGCCCACACACATACACACACAGG TCCACGCACATCCACACACACCGGTCCACGCACATCCACACACAGGTCCA CACACATACACACACATACGTCCACACACATCCACACACACACACACACA CACACAGGTCCACACACATCCACACACAGGCCCACACACATCCACACACA CAGGTCCACACATATCCACACACACAGGTCCACACATATACACATACACA GTTCCACACACAACCACACACAGGTCCACACACATCCACATACAGGTCCA CGCACATACACACACAGGTCCACACACATACACATACACAGTTCCACACA CATCCACACACAAGTCCACACACATCCACACGCACGTCCACGCATCCACA CACAGGTCCACACAC	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01070.hp2 HG01167.hp2 others(33): Show HG00673.hp2 HG01070.hp2 HG01167.hp2 HG01243.hp2 HG01884.hp1 HG01975.hp1 HG02109.hp2 HG02145.hp2 HG02257.hp1 HG02451.hp2 HG02486.hp1 HG02735.hp2 HG02818.hp1 HG02818.hp2 HG02896.hp2 HG02922.hp1 HG02965.hp2 HG03017.hp1 HG03098.hp2 HG03130.hp2 HG03209.hp1 HG03486.hp1 HG03516.hp2 HG03579.hp2 HG03669.hp2 NA18747.hp2 NA18906.hp2 NA18947.hp2 NA18948.hp2 NA18966.hp1 NA18979.hp1 NA19030.hp2 NA19043.hp2 NA19056.hp2 NA19086.hp2 NA19088.hp1	a0001 a0002 a0003 others(14): Show a0001 a0002 a0003 a0004 a0005 a0008 a0010 a0011 a0012 a0014 a0015 a0016 a0017 a0019 a0023 a0030 a0032	a0001c0001 a0001c0011 a0002c0002 others(20): Show a0001c0001 a0001c0011 a0002c0002 a0002c0037 a0003c0003 a0003c0005 a0004c0041 a0005c0015 a0005c0018 a0005c0028 a0008c0008 a0010c0009 a0011c0017 a0012c0013 a0014c0014 a0015c0025 a0015c0044 a0016c0010 a0017c0016 a0019c0047 a0023c0029 a0030c0040 a0032c0048	a0001c0001t0001 a0001c0011t0002 a0002c0002t0001 others(21): Show a0001c0001t0001 a0001c0011t0002 a0002c0002t0001 a0002c0037t0001 a0003c0003t0001 a0003c0005t0001 a0003c0005t0003 a0004c0041t0001 a0005c0015t0001 a0005c0018t0001 a0005c0028t0001 a0008c0008t0001 a0010c0009t0001 a0011c0017t0001 a0012c0013t0001 a0014c0014t0001 a0015c0025t0001 a0015c0044t0001 a0016c0010t0002 a0017c0016t0001 a0019c0047t0001 a0023c0029t0001 a0030c0040t0001 a0032c0048t0001	a0001c0001t0001g0019 a0001c0001t0001g0072 a0001c0001t0001g0077 others(33): Show a0001c0001t0001g0019 a0001c0001t0001g0072 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0011t0002g0100 a0002c0002t0001g0028 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0071 a0002c0002t0001g0073 a0002c0037t0001g0087 a0003c0003t0001g0079 a0003c0003t0001g0080 a0003c0003t0001g0081 a0003c0005t0001g0041 a0003c0005t0003g0003 a0004c0041t0001g0057 a0005c0015t0001g0030 a0005c0018t0001g0085 a0005c0028t0001g0083 a0008c0008t0001g0059 a0008c0008t0001g0064 a0010c0009t0001g0088 a0011c0017t0001g0075 a0012c0013t0001g0058 a0012c0013t0001g0066 a0014c0014t0001g0056 a0015c0025t0001g0027 a0015c0044t0001g0061 a0016c0010t0002g0108 a0017c0016t0001g0062 a0017c0016t0001g0063 a0019c0047t0001g0074 a0023c0029t0001g0055 a0030c0040t0001g0060 a0032c0048t0001g0069	36	122	0.2951	414	c.165 others(433): Show c.165-42111_165-42110insGTGTGTGGACCTGTGTGTGGATGCGT GGACGTGCGTGTGGATGTGTGTGGACTTGTGTGTGGATGTGTGTGGAACT GTGTATGTGTATGTGTGTGGACCTGTGTGTGTATGTGCGTGGACCTGTAT GTGGATGTGTGTGGACCTGTGTGTGGTTGTGTGTGGAACTGTGTATGTGT ATATGTGTGGACCTGTGTGTGTGGATATGTGTGGACCTGTGTGTGTGGAT GTGTGTGGGCCTGTGTGTGGATGTGTGTGGACCTGTGTGTGTGTGTGTGT GTGTGTGGATGTGTGTGGACGTATGTGTGTGTATGTGTGTGGACCTGTGT GTGGATGTGCGTGGACCGGTGTGTGTGGATGTGCGTGGACCTGTGTGTGT ATGTGTGTGGGCCTGTGTATGTGTGTGGACCTGTGTGT		PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	1/22						chr8	TogoVar
PXDNL_chr8_51314577_51814445	51696870	T T	TACACACA others(407): Show TACACACAGGTCCACACACATACACAGGCCCACACACATACACACACAGG TCCACGCACATCCACACACACCGGTCCACGCACATCCACACACAGGTCCA CACACATACACACACATACGTCCACACACATCCACACACACACACACACA CACACAGGTCCACACACATCCACACACAGGCCCACACACATCCACACACA CAGGTCCACACATATCCACACACACAGGTCCACACATATACACATACACA GTTCCACACACAACCACACACAGGTCCACACACATCCACATACAGGTCCA TGCACATACACACACAGGTCCACACACATACACATACACAGTTCCACACA CATCCACACACAAGTCCACACACATCCACACGCACGTCCACGCATCCACA CACAGGTCCACACAC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00673.hp1 HG00741.hp1 others(30): Show HG00438.hp2 HG00673.hp1 HG00741.hp1 HG01070.hp1 HG01109.hp2 HG01167.hp1 HG01169.hp1 HG01243.hp1 HG01256.hp1 HG01256.hp2 HG01517.hp1 HG01975.hp2 HG02155.hp1 HG02155.hp2 HG02486.hp2 HG02735.hp1 HG03017.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG06807.hp1 NA18747.hp1 NA18947.hp1 NA18948.hp1 NA18956.hp1 NA18959.hp2 NA18966.hp2 NA18984.hp1 NA19003.hp1 NA19003.hp2 NA19056.hp1 NA19088.hp2 NA20129.hp1	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0007 a0011 a0013 a0016 a0025 a0027 a0028 a0029 a0031	a0001c0001 a0001c0032 a0002c0002 others(11): Show a0001c0001 a0001c0032 a0002c0002 a0003c0003 a0003c0033 a0007c0007 a0011c0017 a0013c0030 a0016c0010 a0025c0034 a0027c0031 a0028c0038 a0029c0039 a0031c0020	a0001c0001t0001 a0001c0001t0002 a0001c0032t0002 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0032t0002 a0002c0002t0002 a0003c0003t0001 a0003c0003t0002 a0003c0033t0001 a0007c0007t0002 a0011c0017t0001 a0013c0030t0002 a0016c0010t0002 a0025c0034t0002 a0027c0031t0002 a0028c0038t0002 a0029c0039t0002 a0031c0020t0001	a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0036 others(30): Show a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0089 a0001c0001t0002g0093 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0101 a0001c0001t0002g0103 a0001c0001t0002g0111 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0116 a0001c0001t0002g0118 a0001c0032t0002g0106 a0002c0002t0002g0104 a0002c0002t0002g0109 a0002c0002t0002g0112 a0002c0002t0002g0117 a0003c0003t0001g0082 a0003c0003t0002g0107 a0003c0033t0001g0035 a0007c0007t0002g0099 a0011c0017t0001g0054 a0013c0030t0002g0105 a0016c0010t0002g0094 a0025c0034t0002g0122 a0027c0031t0002g0121 a0028c0038t0002g0119 a0029c0039t0002g0120 a0031c0020t0001g0084	33	122	0.2705	414	c.165 others(433): Show c.165-42111_165-42110insGTGTGTGGACCTGTGTGTGGATGCGT GGACGTGCGTGTGGATGTGTGTGGACTTGTGTGTGGATGTGTGTGGAACT GTGTATGTGTATGTGTGTGGACCTGTGTGTGTATGTGCATGGACCTGTAT GTGGATGTGTGTGGACCTGTGTGTGGTTGTGTGTGGAACTGTGTATGTGT ATATGTGTGGACCTGTGTGTGTGGATATGTGTGGACCTGTGTGTGTGGAT GTGTGTGGGCCTGTGTGTGGATGTGTGTGGACCTGTGTGTGTGTGTGTGT GTGTGTGGATGTGTGTGGACGTATGTGTGTGTATGTGTGTGGACCTGTGT GTGGATGTGCGTGGACCGGTGTGTGTGGATGTGCGTGGACCTGTGTGTGT ATGTGTGTGGGCCTGTGTATGTGTGTGGACCTGTGTGT		PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	1/22						chr8	TogoVar
PXMP2_chr12_132682587_132709985	132694348	C C	CAGTTAGT others(407): Show CAGTTAGTTAGTGAGCGCCCTTGCCAGTTAGTTAAGTGAGCGCCCTTAGC CAGTTAGATAGTGAGCGCCCTTAGCCAGTTAGTGAGCGCCCTTAGCCAGT TAGTTAGTGAGCGCCCTTGCCAGTTAGTTAGTGAGCGCCCTTGCCAGTTA GTTAGTGAGCTCCCTGAGCCAGTTAGTGAGCTCCCTTGCCAGTTAGTTAG TGAGCTCCCTTGCCAGTTAGTTAGTGAGCTCCCTTAGTCAGTTAGTTAGT GAGCGCCCTTAGCCAGTTAGTTAGTGAGCGCCCTTAGCCAGTTAGTTAGT GAGCGCCCTTGCCAGTTAGTTAGTGAGCTCCCTTAGCCAGTTAGTTAGTG AGCTCCCTTGCCAGTTAGTTAGTGAGCTCCCTTGCCAGTTAGTTAGTGAG CTCCCTTAGTCAGTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01168.hp1 HG01169.hp2 others(10): Show HG00280.hp1 HG01168.hp1 HG01169.hp2 HG02027.hp2 HG04204.hp2 NA18942.hp1 NA18955.hp2 NA18977.hp2 NA18990.hp1 NA18998.hp2 NA19000.hp1 NA19002.hp1 NA20300.hp1	a0001 a0001	a0001c0003 a0001c0008 a0001c0003 a0001c0008	a0001c0003t0003 a0001c0008t0003 a0001c0003t0003 a0001c0008t0003	a0001c0003t0003g0040 a0001c0003t0003g0041 a0001c0003t0003g0044 others(7): Show a0001c0003t0003g0040 a0001c0003t0003g0041 a0001c0003t0003g0044 a0001c0003t0003g0046 a0001c0003t0003g0047 a0001c0003t0003g0148 a0001c0003t0003g0151 a0001c0003t0003g0152 a0001c0003t0003g0156 a0001c0008t0003g0095	13	350	0.0371	414	c.237 others(431): Show c.237-1529_237-1528insTAGTGAGCGCCCTTGCCAGTTAGTTAAG TGAGCGCCCTTAGCCAGTTAGATAGTGAGCGCCCTTAGCCAGTTAGTGAG CGCCCTTAGCCAGTTAGTTAGTGAGCGCCCTTGCCAGTTAGTTAGTGAGC GCCCTTGCCAGTTAGTTAGTGAGCTCCCTGAGCCAGTTAGTGAGCTCCCT TGCCAGTTAGTTAGTGAGCTCCCTTGCCAGTTAGTTAGTGAGCTCCCTTA GTCAGTTAGTTAGTGAGCGCCCTTAGCCAGTTAGTTAGTGAGCGCCCTTA GCCAGTTAGTTAGTGAGCGCCCTTGCCAGTTAGTTAGTGAGCTCCCTTAG CCAGTTAGTTAGTGAGCTCCCTTGCCAGTTAGTTAGTGAGCTCCCTTGCC AGTTAGTTAGTGAGCTCCCTTAGTCAGTTAGTTAGT		PXMP2	ENSG00000176894.10	transcript	ENST00000317479.8	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr12	TogoVar
RAB7B_chr1_205971740_206008395	205985737	C C	CCCCACCA others(407): Show CCCCACCATCCCCACCAGGCCCACCAGGCCCACCATCCCCACCAGGCCCA CCAGGCCCACCATCCCCACCATCCCCACCAGGCCCACCATCCCCACCAGG CTCACCAGGCCCACCATCCCCACCAGGCCCACCAGGCCCACCATCCCCAC CATCCCCATCAGGCCCACCAGGCCCACCATCCCCACCAGGCCCACCAGGC CCACCATCCCCACCATCCCCACCAGGCCCACCATCCCCACCAGGCTCACC AGGCCCACCATCCCCACCAGGCCCACCAGGCCCACCATCCCCACCATCCC CACCAGGCCCACCATCCCCACCAGGCCCACCAGGCCCACCATCCCCACCA TCCCCACCAGGCCCACCATCCCCACCAGGCCCACCAGGCCCACCATCCCC ACCATCCCCACCAGG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0094 a0001c0001t0002g0094	1	330	0.0030	414	c.397 others(427): Show c.397-73_397-72insCCTGGTGGGGATGGTGGGGATGGTGGGCCTGG TGGGCCTGGTGGGGATGGTGGGCCTGGTGGGGATGGTGGGGATGGTGGGC CTGGTGGGCCTGGTGGGGATGGTGGGCCTGGTGGGGATGGTGGGGATGGT GGGCCTGGTGGGCCTGGTGGGGATGGTGGGCCTGGTGAGCCTGGTGGGGA TGGTGGGCCTGGTGGGGATGGTGGGGATGGTGGGCCTGGTGGGCCTGGTG GGGATGGTGGGCCTGGTGGGCCTGATGGGGATGGTGGGGATGGTGGGCCT GGTGGGCCTGGTGGGGATGGTGGGCCTGGTGAGCCTGGTGGGGATGGTGG GCCTGGTGGGGATGGTGGGGATGGTGGGCCTGGTGGGCCTGGTGGGGATG GTGGGCCTGGTGGGCCTGGTGGGGATGGTGGG		RAB7B	ENSG00000276600.5	transcript	ENST00000617070.5	protein_coding	4/5						chr1	TogoVar
REEP6_chr19_1486181_1502927	1500849	A A	AGGGGAAG others(407): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGA GGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGGGAGGAG GGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGGGGGGGA GAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGGAGGGAAGGAGG AGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGAGGAG GGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGGAAGGG GAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGGAGGA GGGGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	318	0.0031	414	c.36 others(425): Show c.3638_*3639insGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGG AGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGA GGGGGGAGGAGGGGAGGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGA GGAGGGGGGGAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAG GAGGGGAGGGGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGG AGGGAGGGAAGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAG GGGGAGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGG GGAGGAGGGGAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGA GGGGACGGGGGAGGAGGGGAGGGGGGAGGG		REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding					2923		chr19	TogoVar
REEP6_chr19_1486181_1502927	1500849	A A	AGGGGAAG others(407): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGA GGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGGGGAGGA GGGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGGGGGGG AGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAGGAGG AGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGAGGAG GGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGGAAGGG GAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGGAGGA GGGGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	318	0.0031	414	c.36 others(425): Show c.3638_*3639insGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGG AGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGA GGGGGGAGGAGGGGAGGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGA GGAGGGGGGGGAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGA GGAGGGGAGGGGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGG GAGGAGGGAAGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAG GGGGAGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGG GGAGGAGGGGAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGA GGGGACGGGGGAGGAGGGGAGGGGGGAGGG		REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding					2923		chr19	TogoVar
REEP6_chr19_1486181_1502927	1500849	A A	AGGGGAAG others(407): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGA GGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGGGAGGGGGGGAGG AGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGGGGGG AGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAGGAGG AGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGAGGAG GGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGGAAGGG GAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGGAGGA GGGGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	318	0.0031	414	c.36 others(425): Show c.3638_*3639insGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGG AGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGA GGGGGGAGGAGGGGAGGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGA GGGGAGGGGGGGAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGG AGGAGGGGAGGGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGG GAGGAGGGAAGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAG GGGGAGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGG GGAGGAGGGGAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGA GGGGACGGGGGAGGAGGGGAGGGGGGAGGG		REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding					2923		chr19	TogoVar
REEP6_chr19_1486181_1502927	1500849	A A	AGGGGAAG others(407): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGA GGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGG GAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGG GGGGAGAGGGGGGAGGGGGAGAGGGAGGAGGGGAGGGGAGGAGGGAAGGA GGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGAGG AGGGGAGGAGGGGAGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGGAAGG GGAGGGGGGAGGGGGGAGAGGGGAGGGCGGGGAGGAGGGGACGGGGGAGG AGGGGAGGGGGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	318	0.0031	414	c.36 others(425): Show c.3638_*3639insGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGG AGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGA GGGGGGAGGAGGGGAGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAG GGGGGAGGAGGGGGGGAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGG AGGGAGGAGGGGAGGGGGGAGAGGGGGGAGGGGGAGAGGGAGGAGGGGAG GGGAGGAGGGAAGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGA AGGGGGAGGGGGAGGAGGGGAGGAGGGGAGGGGAGGAGGGGAAGGGGAGG GGGAGGAGGGGAAGGGGAGGGGGGAGGGGGGAGAGGGGAGGGCGGGGAGG AGGGGACGGGGGAGGAGGGGAGGGGGGAGG		REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding					2923		chr19	TogoVar
REEP6_chr19_1486181_1502927	1500849	A A	AGGGGAAG others(407): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGA GGGGGGAGGGGGGAGGAGGGAGGAGGGGGAGGGGGGAGGAGGGGGGGAGG AGGGAGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGGGGGGAG AGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAGGAGGAGG GGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGAGGAGGGG AGGAGGGGAGGGGGAGGAGGGGGAAGGGGAGGGGGAGGAGGGGAAGGGGA GGGGGGAGGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGGAGGA GGGGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	318	0.0031	414	c.36 others(425): Show c.3638_*3639insGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGG AGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGA GGGGGGAGGAGGGGAGGGGGGAGGGGGGAGGAGGGAGGAGGGGGAGGGGG GAGGAGGGGGGGAGGAGGGAGGGGGGAGGAGGGGAGGGGGGAGGAGGGAG GAGGGGAGGGGGGAGAGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAG GAGGGAAGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGG GAGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGGAAGGGGAGGGGG AGGAGGGGAAGGGGAGGGGGGAGGGGGGGAGGAGGGGAGGGCGGGGAGGA GGGGACGGGGGAGGAGGGGAGGGGGGAGGG		REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding					2923		chr19	TogoVar
RGS12_chr4_3288021_3444913	3341671	G G	GGAGGGTG others(407): Show GGAGGGTGGAGAGTTGGGGGTGTGGGGGGAGGGGAGGGTGGAGAGATGGG GGTGTGGGCGGAGGGGAGGGTGGAGAGATGAGGGTGTGGGGAGGGGACAA GGGTGGAGAGATGGGGGTGTGGGGAGGGAGGGTGGAGAGATGGGGGTGTG GGCGGAGGGGAGTTTGGAGAGATGAGGGTGTGGGGAGGGGACAAGGGTGG AGAGATGGTGTGGGGGGAGGGAGGGTGGAGAGATGGGGGTGTGGGGGGAG GGGAGGGTGGAGAGATGGGGGTGTGGGGAGGGAGGGTGGAGAGATGGGGG TGTGGGCGGAGGGGAGGGTGGAGAGATGAGGGTGTGGGGAGGGGACAAGG GTGGAGAGATGGTGTGGGGGGAGGGAGGGTGGAGAGATGGGGGTGTGGGG GGAGGGGAGGGTGGA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0004 a0004	a0004c0019 a0004c0019	a0004c0019t0001 a0004c0019t0001	a0004c0019t0001g0006 a0004c0019t0001g0006	1	312	0.0032	414	c.188 others(433): Show c.1882-1263_1882-1262insGGTGGAGAGTTGGGGGTGTGGGGGGA GGGGAGGGTGGAGAGATGGGGGTGTGGGCGGAGGGGAGGGTGGAGAGATG AGGGTGTGGGGAGGGGACAAGGGTGGAGAGATGGGGGTGTGGGGAGGGAG GGTGGAGAGATGGGGGTGTGGGCGGAGGGGAGTTTGGAGAGATGAGGGTG TGGGGAGGGGACAAGGGTGGAGAGATGGTGTGGGGGGAGGGAGGGTGGAG AGATGGGGGTGTGGGGGGAGGGGAGGGTGGAGAGATGGGGGTGTGGGGAG GGAGGGTGGAGAGATGGGGGTGTGGGCGGAGGGGAGGGTGGAGAGATGAG GGTGTGGGGAGGGGACAAGGGTGGAGAGATGGTGTGGGGGGAGGGAGGGT GGAGAGATGGGGGTGTGGGGGGAGGGGAGGGTGGAGAG		RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	2/17					INFO_REALIGN_3_PRIME	chr4	TogoVar
RNF17_chr13_24759169_24884921	24882111	G G	GATATATA others(407): Show GATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATA TAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATA CATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTA GATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGA TATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATA GATACATCTATATAGATATATAGATACATCTAGATAGATATATAGATACA TCTATATAGATATATAGATACATCTATATAGATATATAGATACATCTATA TAGATATATAGATACATCTATATAGATATATAGATACATCTATATAGATA TATAGATACATCTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0060 a0001c0002t0001g0060	1	426	0.0024	414	c.23 others(425): Show c.2385_*2386insATATATAGATACATCTAGATAGATATATAGATAC ATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTAG ATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGAT ATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATAG ATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACAT CTAGATAGATATATAGATACATCTATATAGATATATAGATACATCTAGAT AGATATATAGATACATCTATATAGATATATAGATACATCTATATAGATAT ATAGATACATCTATATAGATATATAGATACATCTATATAGATATATAGAT ACATCTATATAGATATATAGATACATCTAT		RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding					2191		chr13	TogoVar
RPH3AL_chr17_207389_357807	303805	C C	CTCAGGAA others(407): Show CTCAGGAAAGAGGTGGGGAGGGAGGGAGGCTGTACTGAGGTTTTAATAAT TATTGAGCAGTGACCGTGTCTCAGGAAAGAGATGGGGAGGGAGGGAGGCT GTACTGAGGTTTTAATAATTATTGAGCAGTGACCGTGTCTCAGGAAAGAG GTGGGGAGGGAGGGAGGCTGTACTGAGGTTTTAATAATTATTGAGCAGTG ACCGTGTCTCAGGAAAGAGATGGGGAGGGAGGGAGGCTGTACTGAGGTTT TAATAATTATTGAGCAGTGACCGTGTCTCAGGAAAGAGATGGGGAGGGAG GGAGGCTGTACTGAGGTTTTAATAATTATTGAGCAGTGACCGTGTCTCAG GAAAGAGATGGGGAGGGAGGGAGGCTGTACTGAGGTTTTAATAATTATTG AGCAGTGACCGTGTT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01496.hp1 HG01361.hp1 HG01496.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0001 a0001c0002t0001g0002	2	133	0.0150	414	c.351 others(433): Show c.351+15614_351+15615insAACACGGTCACTGCTCAATAATTATT AAAACCTCAGTACAGCCTCCCTCCCTCCCCATCTCTTTCCTGAGACACGG TCACTGCTCAATAATTATTAAAACCTCAGTACAGCCTCCCTCCCTCCCCA TCTCTTTCCTGAGACACGGTCACTGCTCAATAATTATTAAAACCTCAGTA CAGCCTCCCTCCCTCCCCATCTCTTTCCTGAGACACGGTCACTGCTCAAT AATTATTAAAACCTCAGTACAGCCTCCCTCCCTCCCCACCTCTTTCCTGA GACACGGTCACTGCTCAATAATTATTAAAACCTCAGTACAGCCTCCCTCC CTCCCCATCTCTTTCCTGAGACACGGTCACTGCTCAATAATTATTAAAAC CTCAGTACAGCCTCCCTCCCTCCCCACCTCTTTCCTGA		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9						chr17	TogoVar
RPH3AL_chr17_207389_357807	303860	A A	AGCAGTGA others(407): Show AGCAGTGACCGTGTCTCAGGAAAGAGATGGGGAGGGAGGGAGGCTGTACT GAGGTTTTAATAATTATTGAGCAGTGACCGTGTCTCAGGAAAGAGATGGG GAGGGAGGGAGGCTGTACTGAGGTTTTAATAATTATTGGGCAGTGACCGT GTCTCAGGAAAGAGGTGGGGAGGGAGGGAGGCTGTACTGAGGTTTTAATA ATTATTGAGCAGTGACCGTGTCTCAGGAAAGAGATGGGGAGGGAGGGAGG CTGTACTGAGGTTTTAATAATTATTGAGCAGTGACCGTGTCTCAGGAAAG AGATGGGGAGGGAGGGAGGCTGTACTGAGGTTTTAATAATTATTGAGCAG TGACCGTGTCTCAGGAAAGAGATGGGGAGGGAGGGAGGCTGTACTGAGGT TTTAATAATTATTGG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0097 a0001c0001t0007g0097	1	133	0.0075	414	c.351 others(433): Show c.351+15559_351+15560insCCAATAATTATTAAAACCTCAGTACA GCCTCCCTCCCTCCCCATCTCTTTCCTGAGACACGGTCACTGCTCAATAA TTATTAAAACCTCAGTACAGCCTCCCTCCCTCCCCATCTCTTTCCTGAGA CACGGTCACTGCTCAATAATTATTAAAACCTCAGTACAGCCTCCCTCCCT CCCCATCTCTTTCCTGAGACACGGTCACTGCTCAATAATTATTAAAACCT CAGTACAGCCTCCCTCCCTCCCCACCTCTTTCCTGAGACACGGTCACTGC CCAATAATTATTAAAACCTCAGTACAGCCTCCCTCCCTCCCCATCTCTTT CCTGAGACACGGTCACTGCTCAATAATTATTAAAACCTCAGTACAGCCTC CCTCCCTCCCCATCTCTTTCCTGAGACACGGTCACTGC		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9						chr17	TogoVar
RPH3AL_chr17_207389_357807	303938	C C	CGTGTCTC others(407): Show CGTGTCTCAGGAAAGAGATGGGGAGGGAGGGAGGCTGTACTGAGGTTTTA ATAATTATTGGGCAGTGACCGTGTCTCAGGAAAGAGATGGGGAGGGAGGG AGGCTGTACTGAGGTTTTAATAATTATTGAGCAGTGACCGTGTCTCAGGA AAGAGGTGGGGAGGGAGGGAGGCTGTACTGAGGTTTTAATAATTATTGAG CAGTGACCGTGTCTCAGGAAAGAGATGGGGAGGGAGGGAGGCTGTACTGA GGTTTTAATAATTATTGAGCAGTGACCGTGTCTCAGGAAAGAGATGGGGA GGGAGGGAGGCTGTACTGAGGTTTTAATAATTATTGAGCAGTGACCGTGT CTCAGGAAAGAGATGGGGAGGGAGGGAGGCTGTACTGAGGTTTTAATAAT TATTGAGCAGTGACT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0120 a0001c0001t0006g0120	1	133	0.0075	414	c.351 others(433): Show c.351+15481_351+15482insAGTCACTGCTCAATAATTATTAAAAC CTCAGTACAGCCTCCCTCCCTCCCCATCTCTTTCCTGAGACACGGTCACT GCTCAATAATTATTAAAACCTCAGTACAGCCTCCCTCCCTCCCCATCTCT TTCCTGAGACACGGTCACTGCTCAATAATTATTAAAACCTCAGTACAGCC TCCCTCCCTCCCCATCTCTTTCCTGAGACACGGTCACTGCTCAATAATTA TTAAAACCTCAGTACAGCCTCCCTCCCTCCCCACCTCTTTCCTGAGACAC GGTCACTGCTCAATAATTATTAAAACCTCAGTACAGCCTCCCTCCCTCCC CATCTCTTTCCTGAGACACGGTCACTGCCCAATAATTATTAAAACCTCAG TACAGCCTCCCTCCCTCCCCATCTCTTTCCTGAGACAC		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9						chr17	TogoVar
RPH3AL_chr17_207389_357807	303998	A A	AGCAGTGA others(407): Show AGCAGTGACCGTGTCTCAGGAAAGAGGTGGGGAGGGAGGGAGGCTGTACT GAGGTTTTAATAATTATTGAGCAGTGACCGTGTCTCAGGAAAGAGGTGGG GAGGGAGGGAGGCTGTACTGAGGTTTTAATAATTATTGAGCAGTGACCGT GTCTCAGGAAAGAGATGGGGAGGGAGGGAGGCTGTACTGAGGTTTTAATA ATTATTGAGCAGTGACCGTGTCTCAGGAAAGAGATGGGGAGGGAGGGAGG CTGTACTGAGGTTTTAATAATTATTGAGCAGTGACCGTGTCTCAGGAAAG AGGTGGGGAGGGAGGGAGGCTGTACTGAGGTTTTAATAATTATTGAGCAG TGACCGTGTCTCAGGAAAGAGATGGGGAGGGAGGGAGGCTGTACTGAGGT TTTAATAATTATTGG	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0033 a0001c0002t0003g0033	1	133	0.0075	414	c.351 others(433): Show c.351+15421_351+15422insCCAATAATTATTAAAACCTCAGTACA GCCTCCCTCCCTCCCCATCTCTTTCCTGAGACACGGTCACTGCTCAATAA TTATTAAAACCTCAGTACAGCCTCCCTCCCTCCCCACCTCTTTCCTGAGA CACGGTCACTGCTCAATAATTATTAAAACCTCAGTACAGCCTCCCTCCCT CCCCATCTCTTTCCTGAGACACGGTCACTGCTCAATAATTATTAAAACCT CAGTACAGCCTCCCTCCCTCCCCATCTCTTTCCTGAGACACGGTCACTGC TCAATAATTATTAAAACCTCAGTACAGCCTCCCTCCCTCCCCACCTCTTT CCTGAGACACGGTCACTGCTCAATAATTATTAAAACCTCAGTACAGCCTC CCTCCCTCCCCACCTCTTTCCTGAGACACGGTCACTGC		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9						chr17	TogoVar
RPTOR_chr17_80539838_80971368	80743845	T T	TTACGAGC others(407): Show TTACGAGCACAGCCCTGGTTACTAGCAGAGCCCTGGCTACTAGCACTATC CTGGTTACTAGCACAGCCCTGGTTACTAGCACTATCCTGGCTACTAGCAC AGCCCTGGTTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTA GCACTGTCCTGGCTACTAGCACAGCCCTGGTTGCTAGCACTGTCCTGGTT ACTAGCAGAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCT GGTTACTAGCACTATCCTGGCTACTAGTACAGCCCTGGCTACTAGCACTG TCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGC ACAGCCCTGGTTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTAC TAGCACTGTCCTGGC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0091 a0001c0091	a0001c0091t0016 a0001c0091t0016	a0001c0091t0016g0166 a0001c0091t0016g0166	1	196	0.0051	414	c.655 others(433): Show c.655-10162_655-10161insGAGCACAGCCCTGGTTACTAGCAGAG CCCTGGCTACTAGCACTATCCTGGTTACTAGCACAGCCCTGGTTACTAGC ACTATCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGTTAC TAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGG TTGCTAGCACTGTCCTGGTTACTAGCAGAGCCCTGGCTACTAGCACTGTC CTGGCTACTAGCACAGCCCTGGTTACTAGCACTATCCTGGCTACTAGTAC AGCCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTA GCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGTT ACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGCTAC		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80743881	C C	CTACTAGC others(407): Show CTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCC CTGGCTACTAGCACTGTCCTGGTTACGAGCACAGCCCTGGTTACGAGCAC TGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTA GCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTT ACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACGAGCACTGTCCT GGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAG CCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGC ACAGCCCTGGTTACTAGCACAGCCCTGGTTACGAGCACTGTCCTGGCTAC TAGCACTGTCCTGGT	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0064 a0001c0002t0010g0064	1	196	0.0051	414	c.655 others(433): Show c.655-10120_655-10119insAGCCCTGGCTACTAGCACTGTCCTGG TTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACGAGCACAGCC CTGGTTACGAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCAC AGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTA GCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTT ACGAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCT GGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAG CCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACGAGC ACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCAC		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80743885	T T	TAGCACAG others(407): Show TAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGG CTACTAGCACTGTCCTGGTTACGAGCACAGCCCTGGTTACGAGCACTGTC CTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCAC AGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTA GCACAGCCCTGGTTACTAGCACAGCCCTGGTTACGAGCACTGTCCTGGCT ACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCT GGCTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTG TCCTGGCTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGC ACAGCCCTGGTTACG	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0032 a0001c0032	a0001c0032t0097 a0001c0032t0097	a0001c0032t0097g0053 a0001c0032t0097g0053	1	196	0.0051	414	c.655 others(433): Show c.655-10120_655-10119insAGCCCTGGCTACTAGCACTGTCCTGG TTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACGAGCACAGCC CTGGTTACGAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCAC AGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTA GCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTT ACGAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCT GGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGTTACTAGCACAG CCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGC ACAGCCCTGGTTACTAGCACAGCCCTGGTTACGAGCAC		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80743947	C C	CCCTGGTT others(407): Show CCCTGGTTACTAGCAGAGCCCTGGCTACTAGCAGAGCCCTGGCTACTAGC AGAGCCCTGGTTACTAGCACAGCCCTGGTTACGAGCACAGCCCTGGTTAC TAGCAGAGCCCTGGCTACTAGCACTATCCTGGTTACTAGCACAGCCCTGG TTACTAGCACTATCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTGTC CTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCAC AGCCCTGGTTGCTAGCACTGTCCTGGTTACTAGCAGAGCCCTGGCTACTA GCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTATCCTGGCT ACTAGTACAGCCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCT GGCTACTAGCACTGT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0074 a0001c0074	a0001c0074t0032 a0001c0074t0032	a0001c0074t0032g0061 a0001c0074t0032g0061	1	196	0.0051	414	c.655 others(433): Show c.655-10058_655-10057insTTACTAGCAGAGCCCTGGCTACTAGC AGAGCCCTGGCTACTAGCAGAGCCCTGGTTACTAGCACAGCCCTGGTTAC GAGCACAGCCCTGGTTACTAGCAGAGCCCTGGCTACTAGCACTATCCTGG TTACTAGCACAGCCCTGGTTACTAGCACTATCCTGGCTACTAGCACAGCC CTGGTTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCAC TGTCCTGGCTACTAGCACAGCCCTGGTTGCTAGCACTGTCCTGGTTACTA GCAGAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTT ACTAGCACTATCCTGGCTACTAGTACAGCCCTGGCTACTAGCACTGTCCT GGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGG		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744073	T T	TCCTGGCT others(407): Show TCCTGGCTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGC ACAGCCCTGGTTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTAC TAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGG TTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTC CTGGTTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCAC AGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACTA GCACAGCCCTGGCTACTAGCACTGTCCTGGTTACGAGCACAGCCCTGGTT ACGAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCT GGCTACTAGCACAGC	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0061 a0001c0061	a0001c0061t0009 a0001c0061t0009	a0001c0061t0009g0040 a0001c0061t0009g0040	1	196	0.0051	414	c.655 others(431): Show c.655-9932_655-9931insCTACTAGCACAGCCCTGGTTACTAGCAC AGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGTTACTA GCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCT ACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCT GGCTACTAGCACTGTCCTGGTTACTAGCACTGTCCTGGCTACTAGCACTG TCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGC ACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTAC GAGCACAGCCCTGGTTACGAGCACTGTCCTGGCTACTAGCACTGTCCTGG TTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGG		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33					INFO_REALIGN_3_PRIME	chr17	TogoVar

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Search Results (Total: 10000 hits)