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
MBNL3_chrX_132364320_132494038	132396745	T T	TATTCATA others(415): Show TATTCATATATAGATTCATATATATTCATATATAGATTCATATATATTCA TATATAGATTCATATATATATTCATATATATATTCATATATATTCATATA TATATTCATATATATATTCATATATATTCATATATATTCATATATATATT CATATATATATTCATATATATATTCATATATATATTCATATATATTCATA TATATTCATATATATATTCATATATATATTCATATATATATTCATATATA TTCATATATATATTCATATATATATTCATATATATATTCATATATATTCA TATATATTCATATATATTCATATATATATTCATATATATTCATATATATA TTCATATATATATTCATATATATTCATATATATTCATATATATATTCATA TATATATATTCATATATATATTC	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	191	0.0052	422	c.343 others(439): Show c.343-4412_343-4411insGAATATATATATGAATATATATATATGA ATATATATATGAATATATATGAATATATATGAATATATATATGAATATAT ATATGAATATATATGAATATATATATGAATATATATGAATATATATGAAT ATATATGAATATATATATGAATATATATATGAATATATATATGAATATAT ATGAATATATATATGAATATATATATGAATATATATATGAATATATATGA ATATATATGAATATATATATGAATATATATATGAATATATATATGAATAT ATATATGAATATATATGAATATATATGAATATATATATGAATATATATAT GAATATATATGAATATATATATGAATATATATATGAATCTATATATGAAT ATATATGAATCTATATATGAATATATATGAATCTATATATGAAT	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
METTL25B_chr1_156723469_156741960	156735534	T T	TAAAAAAA others(415): Show TAAAAAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTG TAGACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGG CTACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAA GACCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCAC AAGGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTC TACTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGT CCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGC GGAGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAAC AGAGCGAGACGCCATCTCAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01978.hp1 HG02735.hp1 others(4): Show HG00639.hp2 HG01978.hp1 HG02735.hp1 HG03209.hp2 HG03490.hp1 HG04199.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 others(1): Show a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0003g0129	7	390	0.0180	422	c.112 others(439): Show c.1122-168_1122-167insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA	METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
METTL25B_chr1_156723469_156741960	156735534	T T	TAAAAAAA others(415): Show TAAAAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGT AGACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGC TACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAG ACCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACA AGGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCT ACTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTC CCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCG GAGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACA GAGCGAGACGCCATCTCAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02074.hp1 HG00609.hp2 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0153 a0001c0001t0002g0154	2	390	0.0051	422	c.112 others(439): Show c.1122-169_1122-168insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA	METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
MRPL24_chr1_156732303_156746088	156735534	T T	TAAAAAAA others(415): Show TAAAAAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTG TAGACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGG CTACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAA GACCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCAC AAGGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTC TACTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGT CCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGC GGAGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAAC AGAGCGAGACGCCATCTCAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG01978.hp2 HG02735.hp1 others(2): Show HG00639.hp2 HG01978.hp2 HG02735.hp1 HG04199.hp1 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0005t0002 a0001c0001t0002 a0001c0005t0002	a0001c0001t0002g0002 a0001c0005t0002g0036 a0001c0001t0002g0002 a0001c0005t0002g0036	5	364	0.0137	422	c.18 others(433): Show c.1863_*1864insTTTTTGAGATGGCGTCTCGCTCTGTTGCCCAGGC TGGAGTGCAGTAGCACAATCTCGGCTCACTACAAGCTCCGCCTCCCGGTT TCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTAC TCGCCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTT TCACCATGTTCACCAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCA GCCTCGGCATCCCAAATATATATTTTTAAAGACAGGGTCTTCCTGTCACC CAGGCTGGAGAGCAGCAGGGCAATCATAGCTCACTGTAGCCTCAAACACC TCAATCCTCCCACCTCAGCCTCCCAAGTAGCTGGGTCTACAAGTATGAGC TACCATGCCTGCCTATTTTTTTTTTTTTTTTTTTTTTT	MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding		1768		chr1	TogoVar
MRPL24_chr1_156732303_156746088	156735534	T T	TAAAAAAA others(415): Show TAAAAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGT AGACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGC TACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAG ACCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACA AGGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCT ACTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTC CCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCG GAGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACA GAGCGAGACGCCATCTCAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 HG02074.hp2 HG02965.hp2 HG00609.hp2 HG02074.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0001 a0001c0001t0001g0008	3	364	0.0082	422	c.18 others(433): Show c.1863_*1864insTTTTTTGAGATGGCGTCTCGCTCTGTTGCCCAGG CTGGAGTGCAGTAGCACAATCTCGGCTCACTACAAGCTCCGCCTCCCGGT TTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTA CTCGCCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGT TTCACCATGTTCACCAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCC AGCCTCGGCATCCCAAATATATATTTTTAAAGACAGGGTCTTCCTGTCAC CCAGGCTGGAGAGCAGCAGGGCAATCATAGCTCACTGTAGCCTCAAACAC CTCAATCCTCCCACCTCAGCCTCCCAAGTAGCTGGGTCTACAAGTATGAG CTACCATGCCTGCCTATTTTTTTTTTTTTTTTTTTTTT	MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding		1768		chr1	TogoVar
MVP_chr16_29815462_29853021	29843546	A A	AAGGGAGG others(415): Show AAGGGAGGAAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGGAAGGGAGGGA GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGTGAAGGGAG TGAGGAAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGTGAAGGGAGTGAGG AAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGTGAAGGGAGGGAGGAAGGG AGGAAGGGAGGAAGGGAAGGGAGGGAGGAAGGGAGGGAGGGAGGGGAGGG AGGGAGGGAGGGAGTGAAGGGAGTGAGGAAGGGAGGGAGGGAGGGAGGGA GGGAGTGAAGGGAGTGAGGAAGGGAGGAAGGGAGGGAGGGAGGGAGGGAG TGAAGGGAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAAGGGAGGGAG GAAGGGAGGAAGGGAGGGAGGGG	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03453.hp2 HG03195.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0005 a0001c0001t0002g0006	2	230	0.0087	422	c.163 others(439): Show c.1635-940_1635-939insAAGGGAGGAAGGGAGGGAGGGAGGGAGG GAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGA GGGAGTGAAGGGAGTGAGGAAGGGAGGAAGGGAGGGAGGGAGGGAGGGAG TGAAGGGAGTGAGGAAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGTGAAG GGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAAGGGAGGGAGGAAGGGAGG GAGGGAGGGGAGGGAGGGAGGGAGGGAGTGAAGGGAGTGAGGAAGGGAGG GAGGGAGGGAGGGAGGGAGTGAAGGGAGTGAGGAAGGGAGGAAGGGAGGG AGGGAGGGAGGGAGTGAAGGGAGGGAGGGAGGAAGGGAGGAAGGGAGGAA GGGAAGGGAGGGAGGAAGGGAGGAAGGGAGGGAGGGGAGGGAGG	MVP	ENSG00000013364.19	transcript	ENST00000357402.10	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
MVP_chr16_29815462_29853021	29843546	A A	AAGGGAGG others(415): Show AAGGGAGGAAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGGA GGGAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGTGAAG GGAGTGAGGAAGGGAGGAAGGGAGGGAGGGAGGGAGTGAAGGGAGTGAGG AAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGTGAAGGGAGGGAGGAAGGG AGGAAGGGAGGAAGGGAAGGGAGGGAGGAAGGGAGGGAGGGAGGGGAGGG AGGGAGGGAGGGAGTGAAGGGAGTGAGGAAGGGAGGGAGGGAGGGAGGGA GGGAGTGAAGGGAGTGAGGAAGGGAGGAAGGGAGGGAGGGAGGGAGGGAG TGAAGGGAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAAGGGAGGGAG GAAGGGAGGAAGGGAGGGAGGGG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0008 a0001c0001t0002g0008	1	230	0.0044	422	c.163 others(439): Show c.1635-940_1635-939insAAGGGAGGAAGGGAGGGAGGGAGGGAGG GAGGGAGGAAGGGAGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGGA GGGAGGGAGTGAAGGGAGTGAGGAAGGGAGGAAGGGAGGGAGGGAGGGAG TGAAGGGAGTGAGGAAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGTGAAG GGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAAGGGAGGGAGGAAGGGAGG GAGGGAGGGGAGGGAGGGAGGGAGGGAGTGAAGGGAGTGAGGAAGGGAGG GAGGGAGGGAGGGAGGGAGTGAAGGGAGTGAGGAAGGGAGGAAGGGAGGG AGGGAGGGAGGGAGTGAAGGGAGGGAGGGAGGAAGGGAGGAAGGGAGGAA GGGAAGGGAGGGAGGAAGGGAGGAAGGGAGGGAGGGGAGGGAGG	MVP	ENSG00000013364.19	transcript	ENST00000357402.10	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
NAALADL2_chr3_174854334_175815548	175670512	A A	AATTTATA others(415): Show AATTTATATTAAATGTAAATTTAATATATTTATATTAAATTTATATTAAA TGTAAATTTAATATATTTATATTAAATTTATATTAAATGTAAATTTAATA TATTTATATTAAATTTATATTAAATGTAAATTTAATATATTTATATTAAA TTTATATTAAATGTAAATTTAATATATTTATATTAAATTTATATTAAATG TAAATTTAATATATTTATATTAAATTTATATTAAATGTAAAATTAATATA TTTATATTAAATTTATATTAAATGTAAAATTAATATATTTATATTAAATT TATATTAAATGTAAAATTAATATATTTATATTAAATTTATATTAAATGTA AATTTAATATATTTATATTAAATTTATATTAAATGTAAAATTAATATATT TATATTAAATGTAAAATTAATAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0031 a0001c0001t0012g0031	1	64	0.0156	422	c.189 others(443): Show c.1896+43150_1896+43151insATATTTATATTAAATTTATATTAA ATGTAAATTTAATATATTTATATTAAATTTATATTAAATGTAAATTTAAT ATATTTATATTAAATTTATATTAAATGTAAATTTAATATATTTATATTAA ATTTATATTAAATGTAAATTTAATATATTTATATTAAATTTATATTAAAT GTAAATTTAATATATTTATATTAAATTTATATTAAATGTAAAATTAATAT ATTTATATTAAATTTATATTAAATGTAAAATTAATATATTTATATTAAAT TTATATTAAATGTAAAATTAATATATTTATATTAAATTTATATTAAATGT AAATTTAATATATTTATATTAAATTTATATTAAATGTAAAATTAATATAT TTATATTAAATGTAAAATTAATATATTTATATTAAATGTAAATTTAAT	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NFILZ_chr19_8625633_8686151	8678091	T T	TTCCATCC others(415): Show TTCCATCCATCCATCCATTCTTCCATCCACCCATTCATTAGTTTATCCAT CCTCACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCAT TCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCC TTCCATCCATTCATCCACTTGTCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATTTGTCCATCCATCCATCCACCTATCCATCC ATCCGTCCGTCTGTCCCATCCGTCCATCCATCCGTCCGTCCGTCCATCCA TCCATCCATCCATCCATTCTTCCATCCATCCATCCATTCAGCCATCCATC CATCCATCCATTCCATCCATCCATCCATCCATTCTTCCATCCATCCATTC ATTAGTTTATCCATCCCCATCCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp1 HG01981.hp1 HG00099.hp1 HG01981.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0008 a0001c0001 a0009c0008	a0001c0001t0126 a0009c0008t0125 a0001c0001t0126 a0009c0008t0125	a0001c0001t0126g0253 a0009c0008t0125g0256 a0001c0001t0126g0253 a0009c0008t0125g0256	2	366	0.0055	422	c.47 others(431): Show c.473_*474insTCTTCCATCCACCCATTCATTAGTTTATCCATCCTC ACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCATTCAT CCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCCTTCC ATCCATTCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATTTGTCCATCCATCCATCCACCTATCCATCCATCC GTCCGTCTGTCCCATCCGTCCATCCATCCGTCCGTCCGTCCATCCATCCA TCCATCCATCCATTCTTCCATCCATCCATCCATTCAGCCATCCATCCATC CATCCATTCCATCCATCCATCCATCCATTCTTCCATCCATCCATTCATTA GTTTATCCATCCCCATCCATCCATCCATCCATCCAT	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(415): Show TTCCATCCATCCATCCATTCTTCCATCCACCCATTCATTAGTTTATCCAT CCTCACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCAT TCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCC TTCCATCCATTCATCCACTTGTCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATTTGTCCATCCATCCATCCACCTATCCATCCATCC GTCCGTCTGTCCCATCCGTCCATCCATCCGTCCGTCCGTCCATCCATCCA TCCATCCATCCATTCTTCCATCCATCCATCCATTCAGCCATCCATCCATC CATCCATTCCATCCATCCATCCATCCATTCTTCCATCCATCCATTCATTA GTTTATCCATCCCCATCCATCCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02486.hp2 HG02630.hp2 HG03834.hp2 others(1): Show HG02486.hp2 HG02630.hp2 HG03834.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0058 a0001c0001t0026 a0001c0001t0058	a0001c0001t0026g0015 a0001c0001t0026g0234 a0001c0001t0026g0282 others(1): Show a0001c0001t0026g0015 a0001c0001t0026g0234 a0001c0001t0026g0282 a0001c0001t0058g0122	4	366	0.0109	422	c.47 others(431): Show c.473_*474insTCTTCCATCCACCCATTCATTAGTTTATCCATCCTC ACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCATTCAT CCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCCTTCC ATCCATTCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATTTGTCCATCCATCCATCCACCTATCCATCCATCCGTCC GTCTGTCCCATCCGTCCATCCATCCGTCCGTCCGTCCATCCATCCATCCA TCCATCCATTCTTCCATCCATCCATCCATTCAGCCATCCATCCATCCATC CATTCCATCCATCCATCCATCCATTCTTCCATCCATCCATTCATTAGTTT ATCCATCCCCATCCATCCATCCATCCATCCATCCAT	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(415): Show TTCCATCCATCCATCCATTCTTCCATCCACCCATTCATTAGTTTATCCAT CCTCACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCAT TCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCTTCC ATCCATTCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATTTGTCCATCCATCCATCCACCTATCCATCC ATCCGTCCGTCTGTCCCATCCGTCCATCCATCCGTCCGTCCGTCCATCCA TCCATCCATCCATCCATTCTTCCATCCATCCATCCATTCAGCCATCCATC CATCCATCCATTCCATCCATCCATCCATCCATTCTTCCATCCATCCATTC ATTAGTTTATCCATCCCCATCCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01168.hp2 NA18959.hp2 HG01168.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0131 a0001c0001t0132 a0001c0001t0131 a0001c0001t0132	a0001c0001t0131g0351 a0001c0001t0132g0044 a0001c0001t0131g0351 a0001c0001t0132g0044	2	366	0.0055	422	c.47 others(431): Show c.473_*474insTCTTCCATCCACCCATTCATTAGTTTATCCATCCTC ACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCATTCAT CCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCTTCCATCC ATTCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATTTGTCCATCCATCCATCCACCTATCCATCCATCC GTCCGTCTGTCCCATCCGTCCATCCATCCGTCCGTCCGTCCATCCATCCA TCCATCCATCCATTCTTCCATCCATCCATCCATTCAGCCATCCATCCATC CATCCATTCCATCCATCCATCCATCCATTCTTCCATCCATCCATTCATTA GTTTATCCATCCCCATCCATCCATCCATCCATCCAT	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(415): Show TTCCATCCATCCATCCATTCTTCCATCCACCCATTCATTAGTTTATCCAT CCTCACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCAT TCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCTTCC ATCCATTCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATTTGTCCATCCATCCATCCACCTATCCATCCATCC GTCCGTCTGTCCCATCCGTCCATCCATCCGTCCGTCCGTCCATCCATCCA TCCATCCATCCATTCTTCCATCCATCCATCCATTCAGCCATCCATCCATC CATCCATTCCATCCATCCATCCATCCATTCTTCCATCCATCCATTCATTA GTTTATCCATCCCCATCCATCCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02735.hp1 HG03831.hp2 HG02735.hp1 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0061 a0001c0001t0134 a0001c0001t0061 a0001c0001t0134	a0001c0001t0061g0258 a0001c0001t0134g0245 a0001c0001t0061g0258 a0001c0001t0134g0245	2	366	0.0055	422	c.47 others(431): Show c.473_*474insTCTTCCATCCACCCATTCATTAGTTTATCCATCCTC ACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCATTCAT CCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCTTCCATCC ATTCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATTTGTCCATCCATCCATCCACCTATCCATCCATCCGTCC GTCTGTCCCATCCGTCCATCCATCCGTCCGTCCGTCCATCCATCCATCCA TCCATCCATTCTTCCATCCATCCATCCATTCAGCCATCCATCCATCCATC CATTCCATCCATCCATCCATCCATTCTTCCATCCATCCATTCATTAGTTT ATCCATCCCCATCCATCCATCCATCCATCCATCCAT	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	6/6	474	INFO_REALIGN_3_PRIME	chr19	TogoVar
NFILZ_chr19_8625633_8686151	8678103	A A	ATCCATTC others(415): Show ATCCATTCTTCCATCCACCCATTCATTAGTTTATCCATCCTCACCCATCC ACCCATCCATCCATTCATCCATCCATCCTTTCATCCATTCATCCACTTGT CCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCTTCCATCC ATTCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATTTGTCCATCCATCCATCCACCTATCCATCCATCCGTCCGTCT GTCCCATCCGTCCATCCATCCGTCCGTCCGTCCATCCATCCATCCATCCA TCCATTCTTCCATCCATCCATCCATTCAGCCATCCATCCATCCATCCATT CCATCCATCCATCCATCCATTCTTCCATCCATCCATTCATTAGTTTATCC ATCCCCATCCATCCATCCATCCG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0115 a0001c0001t0115	a0001c0001t0115g0350 a0001c0001t0115g0350	1	366	0.0027	422	c.47 others(431): Show c.473_*474insTCTTCCATCCACCCATTCATTAGTTTATCCATCCTC ACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCATTCAT CCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCC TTCCATCCATTCATCCACTTGTCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATTTGTCCATCCATCCATCCACCTATCCATCCATCC GTCCGTCTGTCCCATCCGTCCATCCATCCGTCCGTCCGTCCATCCATCCA TCCATCCATCCATTCTTCCATCCATCCATCCATTCAGCCATCCATCCATC CATCCATTCCATCCATCCATCCATCCATTCTTCCATCCATCCATTCATTA GTTTATCCATCCCCATCCATCCATCCATCCGTCCAT	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	6/6	474	INFO_REALIGN_3_PRIME	chr19	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTATAT others(415): Show CTGTATATATGTACAGCATGTATACTGTGTACAGCATGTATACTGTGTAC AGCATGTATACTGTGTACAGCATGTATACTGTATGTATGTATACTGTATG TATGTATACTGTATGTATGTATACCGTATATATACACAGTATGTATACCG TATATATACACAGTATGTATACCGTATATATACACAGTATGTATACCGTA TATATACACAGTATGTATACCGTATATATACACAGTATGTATACCGTATA TATACACAGTATGTATACTGTGTATGCAGTATGTATACAGTATACATACT GCATGCAGTATGTATACTGTATACATACTGCATGCAGTATGTATACTGTA TATATACACTATACAGTATGTATACTGTATATATACACTATACAGTATGT ATACTGTATATATACACACAGTA	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0264 a0001c0001t0002g0264	1	362	0.0028	422	c.-75 others(441): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTATAGTGTATATATACAGTATACATACTGTATAGTGTATATATAC AGTATACATACTGCATGCAGTATGTATACAGTATACATACTGCATGCAGT ATGTATACTGTATACATACTGCATACACAGTATACATACTGTGTATATAT ACGGTATACATACTGTGTATATATACGGTATACATACTGTGTATATATAC GGTATACATACTGTGTATATATACGGTATACATACTGTGTATATATACGG TATACATACTGTGTATATATACGGTATACATACATACAGTATACATACAT ACAGTATACATACATACAGTATACATGCTGTACACAGTATACATGCTGTA CACAGTATACATGCTGTACACAGTATACATGCTGTACATATATACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NHLRC4_chr16_562005_574495	571109	C C	CTGGCTAG others(415): Show CTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGT CTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTGTGTGTGT GTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGT ATGTATGTGTCTGGCTAGCCTGGCTCCCGTGGCTAGCCTGGTGCCTGTGT GTGTGTGTGTGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGT GCCCGTGTGTGTGTGTGTGGGGGGGGGCTAGCCTTGTGTGTGTGTGTCTG GCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCT GTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTGTGTGTGT GTGTCTGGCTAGCCTGGCACCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	424	0.0024	422	c.26 others(433): Show c.2690_*2691insTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCC TGTGTGTGTGTGTGTCTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTA TGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTG CCCGTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGCTCCCGTGGCTA GCCTGGTGCCTGTGTGTGTGTGTGTGTATGTGTCTGGCTAGCCTGGTGCC CGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTGTGGGGGGGGGCTAGCCTT GTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGT GTGTCTGGCTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTGTG TGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCACCCG	NHLRC4	ENSG00000257108.2	transcript	ENST00000424439.3	protein_coding		1615		chr16	TogoVar
NOC4L_chr12_132139457_132157468	132148904	C C	CGCCGCCT others(415): Show CGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGC CTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCTCGCTCAC ACCACACCCCTAATCCCCTCGGTGAGTGCCGCCTCGCTCACACCACACCC CTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATC CCCTCGGTGAGTGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTG AGTGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCC GCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCG CTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCTCGCTCACACCA CACCCCTAATCCCCTCGGTGAGT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0051 a0001c0004t0001g0051	1	294	0.0034	422	c.901 others(435): Show c.901+17_901+18insACTCACACCACACCCCTAATCCCCTCGGTGAG TGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGC CTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCTCGCTCAC ACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACA CCCCTAATCCCCTCGGTGAGTGCCGCCTCGCTCACACCACACCCCTAATC CCCTCGGTGAGTGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCC GCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCTCG CTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCTC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOTCH1_chr9_136489433_136551048	136535509	G G	GGTGGGGG others(415): Show GGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTG GGAGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGT GCAGGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGT GCAGGGTGGGAGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGG CAATGGGTGCAGGGTGGGAGTGGGTGGAGGGGGGAGCACTCAGGATCCCT CCCGGGGCAATGAGTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCC TCCCAGGGGCAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATC CCTCCCAGGGGCAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGA TCCCTCCCGGGGCAATGGGTGCA	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0240 a0001c0001t0003g0240	1	324	0.0031	422	c.140 others(439): Show c.140+8514_140+8515insTGCACCCATTGCCCCGGGAGGGATCCTG AGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGAGGGATCC TGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGAGGGAT CCTGAGTGCTCCCCTCTCCACCCACCCTGCACTCATTGCCCCGGGAGGGA TCCTGAGTGCTCCCCCCTCCACCCACTCCCACCCTGCACCCATTGCCCCT GGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACTCCCACCCTGCACCCA TTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCA TTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACTCCCACCC TGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCCAC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NRDE2_chr14_90262860_90336941	90300868	A A	AGGAGGGG others(415): Show AGGAGGGGAGGGGAGGGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGGAGG GGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGGAG GGGGAGGGGTGGGGGAGGGAGAGGGGAAAGGGAGAGGGGAAAGGGAGGGG ATGGGGGAGGGAGAAGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGG GGAGGGGGAGGGGAAAGGGGGAAGGGAGAAGGGGGAGGGGGAGGGGAAGG GGAGGAAGAGGGGAGGGGAGGAGGAAGGGGGAGGGGGAGGGGGAGGGGAA AGGAGGAGGAAGGGGGAGGGGGAAGGGGAGGGAGGGGAGGAGGGGGAAGG GAGGGGAGGAGGGGGAAGGGAGGGGAGGGGAGGAGGGGGGAGGGAGAGGG GAGGGGAGGAAGAAGGGGAAGGG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp1 HG02965.hp2 others(5): Show HG01884.hp2 HG01891.hp1 HG02965.hp2 HG02970.hp1 HG03098.hp1 HG03516.hp2 HG03540.hp1 HG06807.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0007 a0003c0005t0089 a0003c0005t0007 a0003c0005t0089	a0003c0005t0007g0007 a0003c0005t0007g0198 a0003c0005t0007g0200 others(4): Show a0003c0005t0007g0007 a0003c0005t0007g0198 a0003c0005t0007g0200 a0003c0005t0007g0201 a0003c0005t0007g0202 a0003c0005t0007g0203 a0003c0005t0089g0197	8	344	0.0233	422	c.154 others(439): Show c.1545+370_1545+371insCCCTTCCCCTTCTTCCTCCCCTCCCCTC TCCCTCCCCCCTCCTCCCCTCCCCTCCCTTCCCCCTCCTCCCCTCCCTTC CCCCTCCTCCCCTCCCTCCCCTTCCCCCTCCCCCTTCCTCCTCCTTTCCC CTCCCCCTCCCCCTCCCCCTTCCTCCTCCCCTCCCCTCTTCCTCCCCTTC CCCTCCCCCTCCCCCTTCTCCCTTCCCCCTTTCCCCTCCCCCTCCCCCTC CCCTCCCCCTCCCCTCCCCCTCCCCCTCCCTTCTCCCTCCCCCATCCCCT CCCTTTCCCCTCTCCCTTTCCCCTCTCCCTCCCCCACCCCTCCCCCTCCC CCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCC CTCCCCCTCCCCTCCTCCCCTCCTCCCCCCCTCCCCTCCCCTCC	NRDE2	ENSG00000119720.18	transcript	ENST00000354366.8	protein_coding	7/13			chr14	TogoVar
NRXN2_chr11_64601174_64728197	64706162	A A	ATATATAA others(415): Show ATATATAATATATATTATATATATAAAGTATATATATAATATATATAATA TATATTATATATATAAAGTATATATATAATATATATAATATATATTATAT ATATAAAGTATATATATAATATATATAATATATATTATATATATAAAGTA TATATATAATATATATAATATATATTATATATAAAGTATATATATAATAT ATATAATATATATTATATATATAAAGTATATATATAATATATATTATATA TATTATATATATAAAGTATATATATAATATATATAATATATATTATATAT ATAAAGTATATATATAATATATATTATATATAAAGTATATATATAATATA TATTATATATATATAAAATATATAATATATATTATATATATATAAAATAT ATAATATATATTATATATATAAG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	308	0.0033	422	c.730 others(439): Show c.730+6807_730+6808insCTTATATATATAATATATATTATATATT TTATATATATATAATATATATTATATATTTTATATATATATAATATATAT TATATATATACTTTATATATAATATATATTATATATATACTTTATATATA TAATATATATTATATATATTATATATATACTTTATATATATAATATATAT AATATATATTATATATATACTTTATATATATAATATATATTATATATATT ATATATATACTTTATATATAATATATATTATATATATTATATATATACTT TATATATATAATATATATTATATATATTATATATATACTTTATATATATA ATATATATTATATATATTATATATATACTTTATATATATAATATATATTA TATATATTATATATATACTTTATATATATAATATATATTATATA	NRXN2	ENSG00000110076.21	transcript	ENST00000265459.11	protein_coding	2/22			chr11	TogoVar
NT5C1A_chr1_39646229_39677107	39664497	T T	TCCTCTCC others(415): Show TCCTCTCCTCTCCTCTCCTCTCCTCTCCTTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCTCTCCTCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTTCCCCTC CCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCTCTCCCC TTCCCCTCCCCTCCCCCTTCCCCTCCCCCTCCCCCTCCCCCTTCCCCTTC CCTCTCCCCTTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	326	0.0031	422	c.433 others(439): Show c.433+1023_433+1024insGGAGGGGAGGGGAAGGGGAGAGGGAAGG GGAAGGGGGAGGGGGAGGGGGAGGGGAAGGGGGAGGGGAGGGGAAGGGGA GAGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGG GAAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGAGGAGAGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAAGGAGAGGAGAGGAGAGGAGAGGAGAGG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NXN_chr17_794310_984776	841405	C C	CCCCCCGA others(415): Show CCCCCCGACCACAGCGCATCTCACACCCGCGAGCAGGTCCTCCCGACCAC GGAGCATCTCACACGGGCGAGCAGGTCCCCCCTGACCACAGCGCATCTCA TGCCGGCGAGCAGGTCCCCCCGACCACGGCGCATCTCACACCCACAGGCA GGTCCCCCCGACCACGGAGCATCTCACACGGGCGAGCAGGTCCACCCTGA CCACGGCGCATCTCACACCCGCGAGCAGGTCCTCCCGACCACGGAGCATC TCACACGGGCGAGCAGGTCCACCCTGACCACGGCGCATCTCACACGGGCG AGCAGGTCCCCCCTGACCACGGCGCATCTCACACGGGCGAGCAGGTCCCC CCTGACCACGGCGCATCTCACACCCGCGAGCAGGTCCCCCCGACCACGGC GCATCTCACACGGGCGAGCAGGT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	242	0.0041	422	c.361 others(441): Show c.361-15328_361-15327insACCTGCTCGCCCGTGTGAGATGCGCC GTGGTCGGGGGGACCTGCTCGCGGGTGTGAGATGCGCCGTGGTCAGGGGG GACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGGGGACCTGCTCGC CCGTGTGAGATGCGCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGAT GCTCCGTGGTCGGGAGGACCTGCTCGCGGGTGTGAGATGCGCCGTGGTCA GGGTGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCGGGGGGACCTGC CTGTGGGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCTCGCCGGCATGA GATGCGCTGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCTCCGTG GTCGGGAGGACCTGCTCGCGGGTGTGAGATGCGCTGTGGTCGGGGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	841420	C C	CGCATCTC others(415): Show CGCATCTCACACCCGCGAGCAGGTCCTCCCGACCACGGCGCATCTCACAC GGGCGAGCAGGTCCTCCCGACCATGGAGCATCTCACACCCGCGAGCAGGT CCCCCCTGACCACGGAGCATCTCACACGGGCGAGCAGGTCCCCCCGACCA TGGAGCATCTCACACGGGCGAGCAGGTCCCCCCTGACCACGGCGCATCTC ACACCCGCGAGCAGGTCCTCCCGACCACGGCGCATCTCACACGGGCGAGC AGGTCCCCCCTGACCACGGCGCATCTCACACCCGCGAGCAGGTCCTCCCG ACCACAGCGCATCTCACACGGGCGAGCAGGTCCACCCTGACCACGGCGCA TCTCACACCCGCGAGCAGGTCCCCCCGACCATGGAGCATCTCACACCCGC GAGCAGGTCCTCCCGACCACGGT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03516.hp2 NA20300.hp2 HG03098.hp1 HG03516.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0045 a0001c0001t0001g0201 a0001c0001t0001g0012 a0001c0001t0001g0045 a0001c0001t0001g0201	3	242	0.0124	422	c.361 others(441): Show c.361-15343_361-15342insACCGTGGTCGGGAGGACCTGCTCGCG GGTGTGAGATGCTCCATGGTCGGGGGGACCTGCTCGCGGGTGTGAGATGC GCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGATGCGCTGTGGTCGG GAGGACCTGCTCGCGGGTGTGAGATGCGCCGTGGTCAGGGGGGACCTGCT CGCCCGTGTGAGATGCGCCGTGGTCGGGAGGACCTGCTCGCGGGTGTGAG ATGCGCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCTCCATGG TCGGGGGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCAGGGGGGACC TGCTCGCGGGTGTGAGATGCTCCATGGTCGGGAGGACCTGCTCGCCCGTG TGAGATGCGCCGTGGTCGGGAGGACCTGCTCGCGGGTGTGAGATGC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	841642	T T	TGACCACG others(415): Show TGACCACGGAGCATCTCACACGGGCGAGCAGGTCCCCCCGACCACGGCGC ATCTCACGCCGGCGAGCAGGTCCCCCCTGACCACGGCGCATCTCACACGG GCGAGCAGGTCCCCCCGACCACGGCGCATCTCACACCCACAGGCAGGTCC CCCCGACCACGGCGCATCTCACACGGGCGAGCAGGTCCACCCTGACCACG GCGCATCTCACACGGGCGAGCAGGTCCACCCTGACCACGGCGCATCTCAT GCCGGCGAGCAGGTCCCCCCGACCACGGCGCATCTCACACCCACGGGCAG GTCCCCCCGACCACGGCGCATCTCACACGGGCGAGCAGGTCCACCCTGAC CACGGCGCATCTCACACGGGCGAGCAGGTCCCCCCGACCACGGCGCATCT CACACCCACAGGCAGGCCCCCCC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0018 a0001c0001t0012g0018	1	242	0.0041	422	c.361 others(441): Show c.361-15565_361-15564insGGGGGGGCCTGCCTGTGGGTGTGAGA TGCGCCGTGGTCGGGGGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTC AGGGTGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCGGGGGGACCTG CCCGTGGGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCTCGCCGGCATG AGATGCGCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGATGCGCCGT GGTCAGGGTGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCGGGGGGA CCTGCCTGTGGGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCTCGCCCG TGTGAGATGCGCCGTGGTCAGGGGGGACCTGCTCGCCGGCGTGAGATGCG CCGTGGTCGGGGGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
PALLD_chr4_168492052_168933441	168793121	G G	GTGTGTGC others(415): Show GTGTGTGCATATATATACATATATGTGTGTGCATATATATACATATATGT GTGTGCATATATATACATATATGTGTGTGCATATATATACATATATATGT GTGCATATATATACATATATATGTGTGCATATATATACATATATATGTGT GCATATATATACATATATGTGTGCATATATATACATATATATGTGTGCAT ATATACATATATGTGTGCATATATATACATATATGTGTGCATATATATAC ATATATGTGTGCATATATATACATATATATGTGTGCATATATATACATAT ATATGTGTGCATATATATACATATATATGTGTGCATATATATACATATAT ATGTGTGCATATATATACATATATATGTGTGCATATATATACATATATAT GTGTGCATATATATACATATATA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0017 a0001c0004t0017	a0001c0004t0017g0048 a0001c0004t0017g0048	1	156	0.0064	422	c.196 others(443): Show c.1964+81221_1964+81222insGTGTGTGCATATATATACATATAT GTGTGTGCATATATATACATATATGTGTGTGCATATATATACATATATAT GTGTGCATATATATACATATATATGTGTGCATATATATACATATATATGT GTGCATATATATACATATATGTGTGCATATATATACATATATATGTGTGC ATATATACATATATGTGTGCATATATATACATATATGTGTGCATATATAT ACATATATGTGTGCATATATATACATATATATGTGTGCATATATATACAT ATATATGTGTGCATATATATACATATATATGTGTGCATATATATACATAT ATATGTGTGCATATATATACATATATATGTGTGCATATATATACATATAT ATGTGTGCATATATATACATATATATGTGTGCATATATATACATATAT	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PALLD_chr4_168492052_168933441	168793121	G G	GTGTGTGC others(415): Show GTGTGTGCATATATATACATATATGTGTGTGCATATATATACATATATGT GTGTGCATATATATACATATATGTGTGTGCATATATATACATATATGTGT GTGCATATATATACATATATGTGTGTGCATATATATACATATATGTGTGC ATATATATACATATATATGTGTGCATATATACATATATGTGTGCATATAT ATACATATATGTGTGCATATATATACATATATGTGTGCATATATATACAT ATATATGTGTGCATATATATACATATATATGTGTGCATATATATACATAT ATATGTGTGCATATATATACATATATATGTGTGCATATATATACATATAT ATGTGTGCATATATATACATATATATGTGTGCATATATATACATATATAT GTGTGCATATATATACATATATA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0002 a0002	a0002c0018 a0002c0018	a0002c0018t0007 a0002c0018t0007	a0002c0018t0007g0012 a0002c0018t0007g0012	1	156	0.0064	422	c.196 others(443): Show c.1964+81221_1964+81222insGTGTGTGCATATATATACATATAT GTGTGTGCATATATATACATATATGTGTGTGCATATATATACATATATGT GTGTGCATATATATACATATATGTGTGTGCATATATATACATATATGTGT GCATATATATACATATATATGTGTGCATATATACATATATGTGTGCATAT ATATACATATATGTGTGCATATATATACATATATGTGTGCATATATATAC ATATATATGTGTGCATATATATACATATATATGTGTGCATATATATACAT ATATATGTGTGCATATATATACATATATATGTGTGCATATATATACATAT ATATGTGTGCATATATATACATATATATGTGTGCATATATATACATATAT ATGTGTGCATATATATACATATATATGTGTGCATATATATACATATAT	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCED1A_chr20_2830314_2845655	2842829	T T	TAGATGTA others(415): Show TAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATG TATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATAGA TGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATG TATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTA TCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATC TATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTA TCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATC GATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGA TAGATGTATCTATCGATAGATAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	436	0.0023	422	c.-26 others(433): Show c.-2641_-2640insCTATCTATCGATAGATACATCTATCTATCGATAG ATACATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACAT CTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCT ATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTAT CTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCT ATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTAT CTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCT ATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTAT CTATCGATAGATACATCTATCTATCGATAGATACATCT	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2175		chr20	TogoVar
PIGQ_chr16_564968_589109	571109	C C	CTGGCTAG others(415): Show CTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGT CTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTGTGTGTGT GTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGT ATGTATGTGTCTGGCTAGCCTGGCTCCCGTGGCTAGCCTGGTGCCTGTGT GTGTGTGTGTGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGT GCCCGTGTGTGTGTGTGTGGGGGGGGGCTAGCCTTGTGTGTGTGTGTCTG GCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCT GTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTGTGTGTGT GTGTCTGGCTAGCCTGGCACCCG	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0049 a0002c0001t0001g0049	1	408	0.0025	422	c.-10 others(439): Show c.-10+1024_-10+1025insTGTGTGTGTGTGTCTGGCTAGCCTGTGT GTGTGTGTGTCTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGT GTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGT GTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGCTCCCGTGGCTAGCCTG GTGCCTGTGTGTGTGTGTGTGTATGTGTCTGGCTAGCCTGGTGCCCGTGG CTAGCCTGGTGCCCGTGTGTGTGTGTGTGGGGGGGGGCTAGCCTTGTGTG TGTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTC TGGCTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGT GTGTGTGTGTGTGTCTGGCTAGCCTGGCACCCGTGGCTAGCCTG	PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PIWIL1_chr12_130332887_130377637	130338253	C C	CGGGGTCG others(415): Show CGGGGTCGAGGTCCCAGGTGCGGGGGATGCAGGAGCCAGATGCGGTGGCG AGGTCGCAGGTGCGGGAGATGCAGGAGCCGGGTGCGGGGTCGAGGTCCCA GGTGCGGGGGATGCAGGAGCCGGGTGCGGGGTCGAGGTCCCAGGTGCGGG GGATGCAGGAGCCAGATGCGGTGGCGAGGTCCCAGGTGCGGGAGATGCAG GAGCCGGGTGCGGGGTCGAGGTCCCAGGTGCGGGAGATGCAGGAGCCGGG TGCGGGGGCGAGGTCCCAGGTGCGGGAGATGCAGGAGCCGGGTGCGGGGG GCGAGGTCCCAGGTGTGGGAGATGCAGGAGCCGGGTGCGGGGGCGAGGTC CCAGGTGTGGGAGATGCAGGAGCCGGGTGCGGGGGCGAGGTCCCAGGTGC GGGGGATGCAGGAGCCGGGTGCG	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0018 a0002c0003t0018	a0002c0003t0018g0301 a0002c0003t0018g0301	1	425	0.0024	422	c.-13 others(437): Show c.-13+111_-13+112insTCGAGGTCCCAGGTGCGGGGGATGCAGGAG CCAGATGCGGTGGCGAGGTCGCAGGTGCGGGAGATGCAGGAGCCGGGTGC GGGGTCGAGGTCCCAGGTGCGGGGGATGCAGGAGCCGGGTGCGGGGTCGA GGTCCCAGGTGCGGGGGATGCAGGAGCCAGATGCGGTGGCGAGGTCCCAG GTGCGGGAGATGCAGGAGCCGGGTGCGGGGTCGAGGTCCCAGGTGCGGGA GATGCAGGAGCCGGGTGCGGGGGCGAGGTCCCAGGTGCGGGAGATGCAGG AGCCGGGTGCGGGGGGCGAGGTCCCAGGTGTGGGAGATGCAGGAGCCGGG TGCGGGGGCGAGGTCCCAGGTGTGGGAGATGCAGGAGCCGGGTGCGGGGG CGAGGTCCCAGGTGCGGGGGATGCAGGAGCCGGGTGCGGGGG	PIWIL1	ENSG00000125207.7	transcript	ENST00000245255.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr12	TogoVar
PKP3_chr11_389209_409908	401787	C C	CCCGCTCA others(415): Show CCCGCTCACCCCGGGCCCCGCTCACACCCGACCCGCTCACACCCGACCCG CTCACACCCGACCCGCTCACCCCCGACCCGCTCACCCCCGACCCGCTCAC CCCAGCCCCGCTCACCCCCGACCCGCTCACCCCGGACCCCGCTCACACCG GACCCCGCTCACACCCGGCCCCGCTCACACCCGACCCGCTCACCCCCGAC CCGCTCACCCCCGACCCGCTCACCCCGGGCCCCGCTCACACCCGCCCCGC TCACACCCGGCCCCGCTCACACCCGACCCGCTCACACCCGACCCGCTCAC CCCCGGCCCCGCTCACCCCGGCCCCGCTCACCCCGGCCCCGCTCACACCC GCCCCGCTCACCCGGGACCCCGCTCACACCCGCCCCGCTCACCCCGGACC CCGCTCACCCCCGGCCCCGCTCA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0140 a0001c0002t0001g0140	1	216	0.0046	422	c.173 others(441): Show c.1737+1084_1737+1085insGCTCACCCCGGGCCCCGCTCACACCC GACCCGCTCACACCCGACCCGCTCACACCCGACCCGCTCACCCCCGACCC GCTCACCCCCGACCCGCTCACCCCAGCCCCGCTCACCCCCGACCCGCTCA CCCCGGACCCCGCTCACACCGGACCCCGCTCACACCCGGCCCCGCTCACA CCCGACCCGCTCACCCCCGACCCGCTCACCCCCGACCCGCTCACCCCGGG CCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGACCC GCTCACACCCGACCCGCTCACCCCCGGCCCCGCTCACCCCGGCCCCGCTC ACCCCGGCCCCGCTCACACCCGCCCCGCTCACCCGGGACCCCGCTCACAC CCGCCCCGCTCACCCCGGACCCCGCTCACCCCCGGCCCCGCTCACC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	401787	C C	CCCGCTCA others(415): Show CCCGCTCACCCCGGGCCCCGCTCACACCCGACCCGCTCACACCCGACCCG CTCACACCCGACCCGCTCACCCCCGACCCGCTCACCCCCGACCCGCTCAC CCCAGCCCCGCTCACCCCCGACCCGCTCACCCCGGACCCTGCTCACACCG GACCCCGCTCACACCCGGCCCCGCTCACACCCGACCCGCTCACCCCCGAC CCGCTCACCCCCGACCCGCTCACCCCGGGCCCCGCTCACACCCGCCCCGC TCACACCCGGCCCCGCTCACACCCGACCCGCTCACACCCGACCCGCTCAC CCCCGGCCCCGCTCACCCCGGCCCCGCTCACCCCGGCCCCGCTCACACCC GCCCCGCTCACCCGGGACCCCGCTCACACCCGCCCCGCTCACCCCGGACC CCGCTCACCCCCGGCCCCGCTCA	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0146 a0001c0002t0001g0146	1	216	0.0046	422	c.173 others(441): Show c.1737+1084_1737+1085insGCTCACCCCGGGCCCCGCTCACACCC GACCCGCTCACACCCGACCCGCTCACACCCGACCCGCTCACCCCCGACCC GCTCACCCCCGACCCGCTCACCCCAGCCCCGCTCACCCCCGACCCGCTCA CCCCGGACCCTGCTCACACCGGACCCCGCTCACACCCGGCCCCGCTCACA CCCGACCCGCTCACCCCCGACCCGCTCACCCCCGACCCGCTCACCCCGGG CCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGACCC GCTCACACCCGACCCGCTCACCCCCGGCCCCGCTCACCCCGGCCCCGCTC ACCCCGGCCCCGCTCACACCCGCCCCGCTCACCCGGGACCCCGCTCACAC CCGCCCCGCTCACCCCGGACCCCGCTCACCCCCGGCCCCGCTCACC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	401950	C C	CCCGCTCA others(415): Show CCCGCTCACCCCGGGCCCCGCTCACACCCGCCCCGCTCACACCCGACCCG CTCACACCCGACCCGCTCACCCCCGACCCGCTCACCCCCGACCCGCTCAC CCCAGCCCCGCTCACCCCCGACCCGCTCACCCCGGACCCCGCTCACACCG GACCCCGCTCACACCCGGCCCCGCTCACACCCGACCCGCTCACCCCCGAC CCGCTCACCCCCGACCCGCTCACCCCGGGCCCCGCTCACACCCGCCCCGC TCACACCCGGCCCCGCTCACACCCGACCCGCTCACACCCGACCCGCTCAC CCCCGGCCCCGCTCACCCCGGCCCCGCTCACCCCGGCCCCGCTCACACCC GCCCCGCTCACCCGGGACCCCGCTCACACCCGCCCCGCTCACCCCGGACC CCGCTCACCCCCGGCCCCGCTCA	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0165 a0001c0003t0001g0165	1	216	0.0046	422	c.173 others(441): Show c.1738-1126_1738-1125insGCTCACCCCGGGCCCCGCTCACACCC GCCCCGCTCACACCCGACCCGCTCACACCCGACCCGCTCACCCCCGACCC GCTCACCCCCGACCCGCTCACCCCAGCCCCGCTCACCCCCGACCCGCTCA CCCCGGACCCCGCTCACACCGGACCCCGCTCACACCCGGCCCCGCTCACA CCCGACCCGCTCACCCCCGACCCGCTCACCCCCGACCCGCTCACCCCGGG CCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGACCC GCTCACACCCGACCCGCTCACCCCCGGCCCCGCTCACCCCGGCCCCGCTC ACCCCGGCCCCGCTCACACCCGCCCCGCTCACCCGGGACCCCGCTCACAC CCGCCCCGCTCACCCCGGACCCCGCTCACCCCCGGCCCCGCTCACC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PLCB1_chr20_8127266_8889900	8662120	A A	AATTATAT others(415): Show AATTATATAATTATATATATATAATTATATAATTATATATTATTTATTAT ATAATATATAATTATATAATTATATATTATTTATTATATAATATATAATT ATATAATTATATATTATTTATTATATAATTATATATTATTTATTATATAA TATATAATTATATATTATTTATTATATAATATATAATTATATATTATTTA TTATATAATTATATATTATGTATTATATAATATATAATTATATATTATGT ATTATATAATTATATAATTATATATTATTTATTATATAATTATATAATTA TATATTATTTATTACATAATTATATATTATTTATTACATAAGTATATATC ACTTATTATATAATTGTATATAATTATTTATTATATAATTGCATATAATT ATTTATTATATAATTGTATATAG	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02970.hp2 HG03041.hp2 others(5): Show HG02683.hp2 HG02970.hp2 HG03041.hp2 HG03209.hp1 HG03492.hp1 HG03834.hp2 NA18906.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0011 a0001c0014	a0001c0001t0001 a0001c0001t0003 a0001c0002t0007 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0007 a0001c0003t0001 a0001c0003t0003 a0001c0007t0007 a0001c0011t0006 a0001c0014t0002	a0001c0001t0001g0063 a0001c0001t0003g0012 a0001c0002t0007g0027 others(5): Show a0001c0001t0001g0063 a0001c0001t0003g0012 a0001c0002t0007g0027 a0001c0003t0001g0029 a0001c0003t0003g0070 a0001c0007t0007g0014 a0001c0011t0006g0066 a0001c0014t0002g0072	8	106	0.0755	422	c.862 others(439): Show c.862+3416_862+3417insATTATATAATTATATATATATAATTATA TAATTATATATTATTTATTATATAATATATAATTATATAATTATATATTA TTTATTATATAATATATAATTATATAATTATATATTATTTATTATATAAT TATATATTATTTATTATATAATATATAATTATATATTATTTATTATATAA TATATAATTATATATTATTTATTATATAATTATATATTATGTATTATATA ATATATAATTATATATTATGTATTATATAATTATATAATTATATATTATT TATTATATAATTATATAATTATATATTATTTATTACATAATTATATATTA TTTATTACATAAGTATATATCACTTATTATATAATTGTATATAATTATTT ATTATATAATTGCATATAATTATTTATTATATAATTGTATATAG	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	9/31			chr20	TogoVar
PLCB1_chr20_8127266_8889900	8662120	A A	AATTATAT others(415): Show AATTATATAATTATATATATATAATTATATAATTATATATTATTTATTAT ATAATATATAATTATATAATTATATGTTATTTATTATATAATATATAATT ATATAATTATATATTATTTATTATATAATTATATATTATTTATTATATAA TATATAATTATATATTATTTATTATATAATATATAATTATATATTATTTA TTATATAATTATATATTATGTATTATATAATATATAATTATATATTATGT ATTATATAATTATATAATTATATATTATTTATTATATAATTATATAATTA TATATTATTTATTACATAATTATATATTATTTATTACATAAGTATATATC ACTTATTATATAATTGTATATAATTATTTATTATATAATTGCATATAATT ATTTATTATATAATTGTATATAG	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0095 a0001c0009t0002g0095	1	106	0.0094	422	c.862 others(439): Show c.862+3416_862+3417insATTATATAATTATATATATATAATTATA TAATTATATATTATTTATTATATAATATATAATTATATAATTATATGTTA TTTATTATATAATATATAATTATATAATTATATATTATTTATTATATAAT TATATATTATTTATTATATAATATATAATTATATATTATTTATTATATAA TATATAATTATATATTATTTATTATATAATTATATATTATGTATTATATA ATATATAATTATATATTATGTATTATATAATTATATAATTATATATTATT TATTATATAATTATATAATTATATATTATTTATTACATAATTATATATTA TTTATTACATAAGTATATATCACTTATTATATAATTGTATATAATTATTT ATTATATAATTGCATATAATTATTTATTATATAATTGTATATAG	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	9/31			chr20	TogoVar
PLEKHG4B_chr5_87168_194966	101061	T T	TAATCCAT others(415): Show TAATCCATATAAAGCCCTGGAAAAAGTCTGTAGGGGAGAGACTGTTGTGA GGTAAATCCATATAAAGCCCTGGAAAAAGTCTGTAGGGGAGAGACTGTTG TGAGGTTAATCCATATAAAGCCCTGGAAAAAGTCTATAGGGGAGAGACTG TTGTGAGGTTAATCCATATAAAGCTCTGGAAAAAGTCTGTAGGGGAGAGA CTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGTCTGTAGGGGAG ACTGTTGTGAGGTAAATCCATATAAAGCCCTGGGAAAAGCCTGTAGGGGA GAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGCCTGTAGG GGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGCCTGT AGGGGAGAGACTGTTGTGAGGTA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0035 a0001c0015t0035	a0001c0015t0035g0122 a0001c0015t0035g0122	1	210	0.0048	422	c.45+ others(437): Show c.45+8837_45+8838insAAATCCATATAAAGCCCTGGAAAAAGTCTG TAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGT CTATAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCTCTGGAAAA AGTCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGA AAAAGTCTGTAGGGGAGACTGTTGTGAGGTAAATCCATATAAAGCCCTGG GAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCC TGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAG CCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTAAATCCATATA AAGCCCTGGAAAAAGTCTGTAGGGGAGAGACTGTTGTGAGGT	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	105137	T T	TTGGTGTT others(415): Show TTGGTGTTCCCGTCCTGAAGGTGGAGAAACACTCCACAGTGGGTGAGGGC TGTTCTGGTTCTGGTGTTCCCGTCCTGAAGGTGGAGAAACACTCCACAGT GGGTGAGGGCTGTTCTGGTTTTGGTGTTCCCGTCCTGAAGGTGGAGAAAC ACTCCACAGTGGGTGAGGGCTGTTCTGGTTTTGGTGTTCCCGTCCTGAAG GTGGAGAAACACTCCGCAGTGTGTGAGGGCGGTTCTGAGTTCTGGTGTTC CCGTCCTGAAGGTGGAAAAACAGTGCACAGTGGGTGAGGGCTGTTCTGGT TCTGGTGTTCCCGTCCTGAAGGTGGAGAAACACTCCACAGTGGGTGAGGG CTGTTCTGGTTTTGGTGTTCCCGTCCTGAAGGTGGAGAAACACTCCGCAG TGTGTGAGGGCTGTTCTGGGTTC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0032 a0032	a0032c0058 a0032c0058	a0032c0058t0040 a0032c0058t0040	a0032c0058t0040g0158 a0032c0058t0040g0158	1	210	0.0048	422	c.46- others(437): Show c.46-8080_46-8079insACAGTGGGTGAGGGCTGTTCTGGTTCTGGT GTTCCCGTCCTGAAGGTGGAGAAACACTCCACAGTGGGTGAGGGCTGTTC TGGTTTTGGTGTTCCCGTCCTGAAGGTGGAGAAACACTCCACAGTGGGTG AGGGCTGTTCTGGTTTTGGTGTTCCCGTCCTGAAGGTGGAGAAACACTCC GCAGTGTGTGAGGGCGGTTCTGAGTTCTGGTGTTCCCGTCCTGAAGGTGG AAAAACAGTGCACAGTGGGTGAGGGCTGTTCTGGTTCTGGTGTTCCCGTC CTGAAGGTGGAGAAACACTCCACAGTGGGTGAGGGCTGTTCTGGTTTTGG TGTTCCCGTCCTGAAGGTGGAGAAACACTCCGCAGTGTGTGAGGGCTGTT CTGGGTTCTGGTGTTCCCGTCCTGAAGGTGGAGAAACACTCC	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLPP2_chr19_276043_296403	291603	A A	AGGAGGGG others(415): Show AGGAGGGGGGGACGGCAGCGGCGGGCAGGGGAGCGGCGGGCGGGGCGGGG AGGGGAGGGCAGCAGGGGAGAGGGGAGGAGGGGAGGGGCGGGGAGGGGAG GGGAGGAGGGAGGGGGAGGGGAGGAGGGAGGGGGGACGGCAGCGGCGGGC AGGGGAGCGGCGGGCAGGGGAGTGGCGGGCGGGGCGGGGAGGAGGGGAGG GAGGGGAAGGGGAGGAGGGGGGGAGGGGAGGGGAGGAAGGCGGGGACGGC AGCGGCGGGCAGGGGAGCAGCGGGCGGGGCGGGGAGGAGGGGAGGGTTAG GGGCGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGAGGGGCGGGGAGGGGA GAGGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGAGGGGCGGGGAGGGGA GAGGGGGGAGGGGAGGAGGGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0027 a0002c0002t0001g0027	1	354	0.0028	422	c.-26 others(431): Show c.-268_-267insCCTCCCTCCTCCCCTCCCCCCTCTCCCCTCCCCGCC CCTCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCCCTCTCCCCTCCCCGCC CCTCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCGCCCCTAACCCTCCCCT CCTCCCCGCCCCGCCCGCTGCTCCCCTGCCCGCCGCTGCCGTCCCCGCCT TCCTCCCCTCCCCTCCCCCCCTCCTCCCCTTCCCCTCCCTCCCCTCCTCC CCGCCCCGCCCGCCACTCCCCTGCCCGCCGCTCCCCTGCCCGCCGCTGCC GTCCCCCCTCCCTCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCTCCCCGC CCCTCCCCTCCTCCCCTCTCCCCTGCTGCCCTCCCCTCCCCGCCCCGCCC GCCGCTCCCCTGCCCGCCGCTGCCGTCCCCCCCTCC	PLPP2	ENSG00000141934.10	transcript	ENST00000434325.7	protein_coding		201		chr19	TogoVar
PXDNL_chr8_51314577_51814445	51696849	A A	ACACACAC others(415): Show ACACACACAGGTCCACACACATACACACAGGTCCACACACATACACAGGC CCACACACATACACACACAGGTCCACGCACATCCACACACACCGGTCCAC GCACATCCACACACAGGTCCACACACATACACACACACAGGTCCACACAC ATCCCCACACACACACACACACACACACACACAGGTCCACACACATCCAC ACACAGGCCCACACACATCCACACACACAGGTCCACACACATCCACACAC GCAGGTCCACACACATCCACATACACAGTTCCACACACAACCACACACAG GTCCACACACATCCACACACAGGTCCATGCACATACACACACAGGTCCAC ACACATACACATACACAGTTCCACACACATCCACACACAAGTCCACACAC ATCCACACGCACGTCCACGCATC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01169.hp2 HG01496.hp1 others(4): Show HG01109.hp1 HG01169.hp2 HG01496.hp1 HG01517.hp2 HG02145.hp1 NA18984.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0007	a0001c0001 a0001c0046 a0002c0002 others(3): Show a0001c0001 a0001c0046 a0002c0002 a0005c0015 a0005c0018 a0007c0007	a0001c0001t0001 a0001c0046t0001 a0002c0002t0001 others(3): Show a0001c0001t0001 a0001c0046t0001 a0002c0002t0001 a0005c0015t0002 a0005c0018t0001 a0007c0007t0001	a0001c0001t0001g0022 a0001c0046t0001g0020 a0002c0002t0001g0023 others(4): Show a0001c0001t0001g0022 a0001c0046t0001g0020 a0002c0002t0001g0023 a0005c0015t0002g0115 a0005c0018t0001g0024 a0007c0007t0001g0029 a0007c0007t0001g0031	7	122	0.0574	422	c.165 others(441): Show c.165-42090_165-42089insGATGCGTGGACGTGCGTGTGGATGTG TGTGGACTTGTGTGTGGATGTGTGTGGAACTGTGTATGTGTATGTGTGTG GACCTGTGTGTGTATGTGCATGGACCTGTGTGTGGATGTGTGTGGACCTG TGTGTGGTTGTGTGTGGAACTGTGTATGTGGATGTGTGTGGACCTGCGTG TGTGGATGTGTGTGGACCTGTGTGTGTGGATGTGTGTGGGCCTGTGTGTG GATGTGTGTGGACCTGTGTGTGTGTGTGTGTGTGTGTGTGTGGGGATGTG TGTGGACCTGTGTGTGTGTATGTGTGTGGACCTGTGTGTGGATGTGCGTG GACCGGTGTGTGTGGATGTGCGTGGACCTGTGTGTGTATGTGTGTGGGCC TGTGTATGTGTGTGGACCTGTGTGTATGTGTGTGGACCTGTGTGTG	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	1/22			chr8	TogoVar
RASA3_chr13_113972783_114137623	114044392	C C	CCTCACTC others(415): Show CCTCACTCGCTGAGCTCCCCCCCCGCCTCACTCGCTGAGCACCCCCCCGC CCCGCCTCACTCGCTGAGCCCCCCGCCCCGCCTCACTCGCTGAGCTCCCC CCCCCCGCCTCACTCGCTGAGCTCCCCCCCCGCCTCACTCGCTGAGCACC CCCCCGCCGCCTCACTCGCTGAGCCCCCCGCCCCGCCTCACTCGCTGAGC CCCCCCCCCCGCCCCGCCTCACTCGCTGAGCTCCCCCCCCCGCCTCACTC GCTGAGCACCCCCCCGCCGCCTCACTCGCTGAGCCCCCCGCCCCGCCTCA CTCGCTGAGCCCCCCCCCCGCCCCGCCTCACTCGCTGAGCCCCCCCCCCG CCCCGCCTCACTCGCTGAGCTCCCCCCCCCCGCCTCACTCGCTGAGCTCC CCCCCCGCCTCACTCGCTGAGCA	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	67	0.0149	422	c.278 others(439): Show c.278-3299_278-3298insTGCTCAGCGAGTGAGGCGGGGGGGGAGC TCAGCGAGTGAGGCGGGGGGGGGGAGCTCAGCGAGTGAGGCGGGGCGGGG GGGGGGCTCAGCGAGTGAGGCGGGGCGGGGGGGGGGCTCAGCGAGTGAGG CGGGGCGGGGGGCTCAGCGAGTGAGGCGGCGGGGGGGTGCTCAGCGAGTG AGGCGGGGGGGGGAGCTCAGCGAGTGAGGCGGGGCGGGGGGGGGGGCTCA GCGAGTGAGGCGGGGCGGGGGGCTCAGCGAGTGAGGCGGCGGGGGGGTGC TCAGCGAGTGAGGCGGGGGGGGAGCTCAGCGAGTGAGGCGGGGGGGGGGA GCTCAGCGAGTGAGGCGGGGCGGGGGGCTCAGCGAGTGAGGCGGGGCGGG GGGGTGCTCAGCGAGTGAGGCGGGGGGGGAGCTCAGCGAGTGAG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	3/23			chr13	TogoVar
REEP6_chr19_1486181_1502927	1500849	A A	AGGGGAAG others(415): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGAGGGGGAGG GGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGGGAGGAGGGGAGGGGG GAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGGGGGGAGAGGGGGGAGG GGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAGGAGGAGGGGAGGGGGA GGAGGGAAGGGGGAGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGAGGGAA GGAGGAGGGGAGGGGGAGGAGGGGAGGGGGGAGGAGGGAAGGGGGAGGGG GAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGG GGAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGG GGGAGGAGGGGAGGGGGGAGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	318	0.0031	422	c.36 others(433): Show c.3638_*3639insGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGG AGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGG GAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGGG GGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAGG AGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGAGGAGGGGAGGAGGGG AGGGGGAGGAGGGAAGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGGAGGA GGGAAGGGGGAGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGG GGAGGGGGAGGAGGGGGAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCG GGGAGGAGGGGACGGGGGAGGAGGGGAGGGGGGAGGGG	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		2923		chr19	TogoVar
RGPD5_chr2_109789305_109862705	109794584	G G	GGGGGGGA others(415): Show GGGGGGGAGGGGGCGGCGGCGGCGGCCTCGGCCCGGCCGGGGGGCGGCGG CGGCGGCGGCCTCGGCCCCGGCCCGGCCGGGGGGCGGCGGCGGCGGCGGC CTCGGCCCCGGCCCGGCCGGGGGGCGGCGGCGGCGGCGGCGGCGGCGGCG GCGGCCTCGGCCCGGCCGGGGGGCGGCGGCGGCGGCGGCGGCGGCCTCGG CCCGGCCGGGGGGCGGCGGCGGCGGCGGCCTCGGCCCCGGCCCGGCCGGG GGGCGGCGGCGGCGGCCTCGGCCCCGGCCCGGCCGGGGGGCGGCGGCGGC GGCGGCGGCGGCGGCGGCCTCGGCCCCGGCCCGGCCGGGGGGCGGCGGCG GCGGCGGCGGCGGCGGCGGCCTCGGCCCGGCCGGGGGGCGGCGGCGGCGG CGGCCTCGTCCCGGCCGGGGGGC	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0022 a0003c0003t0002g0022	1	40	0.0250	422	c.72+ others(433): Show c.72+49_72+50insGGGGAGGGGGCGGCGGCGGCGGCCTCGGCCCGGC CGGGGGGCGGCGGCGGCGGCGGCCTCGGCCCCGGCCCGGCCGGGGGGCGG CGGCGGCGGCGGCCTCGGCCCCGGCCCGGCCGGGGGGCGGCGGCGGCGGC GGCGGCGGCGGCGGCGGCCTCGGCCCGGCCGGGGGGCGGCGGCGGCGGCG GCGGCGGCCTCGGCCCGGCCGGGGGGCGGCGGCGGCGGCGGCCTCGGCCC CGGCCCGGCCGGGGGGCGGCGGCGGCGGCCTCGGCCCCGGCCCGGCCGGG GGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCCTCGGCCCCGGCCCGGCCG GGGGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCCTCGGCCCGGCCGGGGG GCGGCGGCGGCGGCGGCCTCGTCCCGGCCGGGGGGCGG	RGPD5	ENSG00000015568.13	transcript	ENST00000016946.8	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
RGS12_chr4_3288021_3444913	3309643	T T	TTGAGGAG others(415): Show TTGAGGAGGAGCTGGGACCCGGGAAATGGCAGGTGTCCTCTGAGGGGAAC CGTGTTGAGGAGGAGCTGGGACCTGGGAATGGCAGGTGTCCTCTGAGGAG AGCTGAGCAGGAGAGGAGCTGGGACTCGGGAATGGCAGGTGTCCGCTGAG GGGAACCGTGCTGGGGAGGAGCTGGGACCCTGGAATGGCAGGTGTCCGCT GAGGGGAACCGTGCAGGGGAGGAGCTGGGACCTGGGAATGGCAGGTGTCC TCTGAGGAGAGCTGAGCAGGAGAGGAGCTGGGACTCGGGAATGGCAGGTG TCTGCTGAGGGGAACCGTGTTGAGGAGGAGCTGGGACTTGGGAATGGCAG GTGTCTGCTGAGAACTGGGTGGGAGAGGAGCTGGGATCCGGGAATGGCAG GTGTCCGCTGAGGGGAACCGTGC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02922.hp2 HG01891.hp2 HG02922.hp2	a0003 a0003	a0003c0017 a0003c0017	a0003c0017t0001 a0003c0017t0001	a0003c0017t0001g0201 a0003c0017t0001g0202 a0003c0017t0001g0201 a0003c0017t0001g0202	2	312	0.0064	422	c.-10 others(441): Show c.-101-6427_-101-6426insTGAGGAGGAGCTGGGACCCGGGAAAT GGCAGGTGTCCTCTGAGGGGAACCGTGTTGAGGAGGAGCTGGGACCTGGG AATGGCAGGTGTCCTCTGAGGAGAGCTGAGCAGGAGAGGAGCTGGGACTC GGGAATGGCAGGTGTCCGCTGAGGGGAACCGTGCTGGGGAGGAGCTGGGA CCCTGGAATGGCAGGTGTCCGCTGAGGGGAACCGTGCAGGGGAGGAGCTG GGACCTGGGAATGGCAGGTGTCCTCTGAGGAGAGCTGAGCAGGAGAGGAG CTGGGACTCGGGAATGGCAGGTGTCTGCTGAGGGGAACCGTGTTGAGGAG GAGCTGGGACTTGGGAATGGCAGGTGTCTGCTGAGAACTGGGTGGGAGAG GAGCTGGGATCCGGGAATGGCAGGTGTCCGCTGAGGGGAACCGTGC	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	1/17			chr4	TogoVar
RGS12_chr4_3288021_3444913	3309646	G G	AGGAGGAG others(415): Show AGGAGGAGCTGGGACCCGGGAAATGGCAGGTGTCCTCTGAGGGGAACCGT GTTGAGGAGGAGCTGGGACCTGGGAATGGCAGGTGTCCTCTGAGGAGAGC TGAGCAGGAGAGGAGCTGGGACTCGGGAATGGCAGGTGTCCGCTGAGGGG AACCGTGCTGGGGAGGAGCTGGGACCCTGGAATGGCAGGTGTCCGCTGAG GGGAACCGTGCAGGGGAGGAGCTGGGACCTGGGAATGGCAGGTGTCCTCT GAGGAGAGCTGAGCAGGAGAGGAGCTGGGACTCGGGAATGGCAGGTGTCT GCTGAGGGGAACCGTGTTGAGGAGGAGCTGGGACTTGGGAATGGCAGGTG TCTGCTGAGAACTGGGTGGGAGAGGAGCTGGGATCCGGGAATGGCAGGTG TCCGCTGAGGGGAACCGTGCTGG	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0003 a0003	a0003c0047 a0003c0047	a0003c0047t0001 a0003c0047t0001	a0003c0047t0001g0203 a0003c0047t0001g0203	1	312	0.0032	422	c.-10 others(441): Show c.-101-6425_-101-6424insAGGAGGAGCTGGGACCCGGGAAATGG CAGGTGTCCTCTGAGGGGAACCGTGTTGAGGAGGAGCTGGGACCTGGGAA TGGCAGGTGTCCTCTGAGGAGAGCTGAGCAGGAGAGGAGCTGGGACTCGG GAATGGCAGGTGTCCGCTGAGGGGAACCGTGCTGGGGAGGAGCTGGGACC CTGGAATGGCAGGTGTCCGCTGAGGGGAACCGTGCAGGGGAGGAGCTGGG ACCTGGGAATGGCAGGTGTCCTCTGAGGAGAGCTGAGCAGGAGAGGAGCT GGGACTCGGGAATGGCAGGTGTCTGCTGAGGGGAACCGTGTTGAGGAGGA GCTGGGACTTGGGAATGGCAGGTGTCTGCTGAGAACTGGGTGGGAGAGGA GCTGGGATCCGGGAATGGCAGGTGTCCGCTGAGGGGAACCGTGCTG	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	1/17			chr4	TogoVar
RTN4IP1_chr6_106565771_106634498	106589237	G G	GGAGGAGG others(415): Show GGAGGAGGGAGGAGGAGGGAGGGGGAGGGAGGGGGAGGGAGGAGGAGGGA GGGGGAGGGAGGAGGAGGGAGGGGGAGGGAGGAGGAGGGAGGGGGAGGGA GGGGGAGGGAGGGGGAGGGAGGGGGAGGGAGGGGGAGGGAGGGGGAGGGA GGGGGAGGGAGGGGGAGGAGGGAGGGAGGGGGAGGGAGGGAGGAGGAGGG AGGGGGAGGAGGGAGGGGGAGGAGGGAGGGGGAGGAGGGAGGGGGAGAAG GGGGAGAAGAAGGAGAAGAAGGAGAAGAGGAAGAGGAAGAAGAGGAAGAG GAAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGG AGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAG AAGGAGGAGGAGAAGAAGGAGGA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02258.hp2 HG03491.hp2 others(2): Show HG01099.hp2 HG02258.hp2 HG03491.hp2 HG03492.hp1 HG03669.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0006 a0001c0001 a0002c0006	a0001c0001t0006 a0002c0006t0006 a0001c0001t0006 a0002c0006t0006	a0001c0001t0006g0363 a0001c0001t0006g0365 a0001c0001t0006g0366 others(2): Show a0001c0001t0006g0363 a0001c0001t0006g0365 a0001c0001t0006g0366 a0002c0006t0006g0369 a0002c0006t0006g0370	5	396	0.0126	422	c.807 others(439): Show c.807-1376_807-1375insTCCTCCTTCTTCTCCTCCTCCTTCTCCT CCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTCC TCCTTCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTTCCTCTT CCTCTTCTTCCTCTTCCTCTTCTCCTTCTTCTCCTTCTTCTCCCCCTTCT CCCCCTCCCTCCTCCCCCTCCCTCCTCCCCCTCCCTCCTCCCCCTCCCTC CTCCTCCCTCCCTCCCCCTCCCTCCCTCCTCCCCCTCCCTCCCCCTCCCT CCCCCTCCCTCCCCCTCCCTCCCCCTCCCTCCCCCTCCCTCCCCCTCCCT CCCCCTCCCTCCTCCTCCCTCCCCCTCCCTCCTCCTCCCTCCCCCTCCCT CCTCCTCCCTCCCCCTCCCTCCCCCTCCCTCCTCCTCCCTCCTC	RTN4IP1	ENSG00000130347.13	transcript	ENST00000369063.8	protein_coding	6/8			chr6	TogoVar
RTN4IP1_chr6_106565771_106634498	106589237	G G	GGAGGAGG others(415): Show GGAGGAGGGAGGGGGAGGGAGGGGGAGGGAGGGGGAGGGAGGAGGAGGGA GGGGGAGGGAGGAGGAGGGAGGGGGAGGGAGGAGGAGGGAGGGGGAGGGA GGGGGAGGGAGGGGGAGGGAGGGGGAGGGAGGGGGAGGGAGGGGGAGGGA GGGGGAGGGAGGGGGAGGAGGGAGGGAGGGGGAGGGAGGGAGGAGGAGGG AGGGGGAGGAGGGAGGGGGAGGAGGGAGGGGGAGGAGGGAGGGGGAGAAG GGGGAGAAGAAGGAGAAGAAGGAGAAGAGGAAGAGGAAGAAGAGGAAGAG GAAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGG AGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAG AAGGAGGAGGAGAAGAAGGAGGA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0089 a0001c0001t0008g0089	1	396	0.0025	422	c.807 others(439): Show c.807-1376_807-1375insTCCTCCTTCTTCTCCTCCTCCTTCTCCT CCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTCC TCCTTCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTTCCTCTT CCTCTTCTTCCTCTTCCTCTTCTCCTTCTTCTCCTTCTTCTCCCCCTTCT CCCCCTCCCTCCTCCCCCTCCCTCCTCCCCCTCCCTCCTCCCCCTCCCTC CTCCTCCCTCCCTCCCCCTCCCTCCCTCCTCCCCCTCCCTCCCCCTCCCT CCCCCTCCCTCCCCCTCCCTCCCCCTCCCTCCCCCTCCCTCCCCCTCCCT CCCCCTCCCTCCTCCTCCCTCCCCCTCCCTCCTCCTCCCTCCCCCTCCCT CCTCCTCCCTCCCCCTCCCTCCCCCTCCCTCCCCCTCCCTCCTC	RTN4IP1	ENSG00000130347.13	transcript	ENST00000369063.8	protein_coding	6/8			chr6	TogoVar
SCNN1D_chr1_1275436_1297025	1284171	G G	GGGGGGTT others(415): Show GGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGG GGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGGGGTTG GGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTCGGGGGGGGGT TGAGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGTTGGGTGAGGGGGGTGG GGTGGGGGGGTTGGGTGAGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGG TTGAGTGAGGGGGGTGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTG GGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGG TGAGGGGTTGGGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGG GGTGGGGTGGGGGGGTTGAGTGA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0121 a0002c0003t0004g0121	1	290	0.0035	422	c.464 others(435): Show c.464+91_464+92insTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGT GGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGG GGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTCGGG GGGGGGTTGAGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGTTGGGTGAGG GGGGTGGGGTGGGGGGGTTGGGTGAGGGGGTTGGGTGAGGGGGGTGGGGT GGGGGGGTTGAGTGAGGGGGGTGGGGGTTGGGTGAGGGGGGTGGGGTGGG GGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGG TGTTGGGTGAGGGGTTGGGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGG TGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGTTGGG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289471	C C	CCCCGTGT others(415): Show CCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCCCCATCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCC CGTCCCGTGTCCCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0026 a0026	a0026c0041 a0026c0041	a0026c0041t0001 a0026c0041t0001	a0026c0041t0001g0261 a0026c0041t0001g0261	1	290	0.0035	422	c.166 others(439): Show c.1663-787_1663-786insCCCGTCCCGTGTCCCTGCCCCATCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGC CCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGT CTCTGCCCCGTCCCGTGTCCCTGCCCCGTCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SEMA4D_chr9_89372235_89503113	89462954	G G	GGGAGGGG others(415): Show GGGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGA GCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAG GGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGG GGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGC GAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGC GAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGG GAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGG AGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGA GGGGAGGGGAGCGAGCGAGGGGA	intron_variant intron_variant	MODIFIER	HG02615.hp2 NA18951.hp1 NA18957.hp1 HG02615.hp2 NA18951.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0016 a0001c0001t0001 a0001c0001t0016	a0001c0001t0001g0032 a0001c0001t0001g0131 a0001c0001t0016g0054 a0001c0001t0001g0032 a0001c0001t0001g0131 a0001c0001t0016g0054	3	370	0.0081	422	c.-30 others(441): Show c.-309-7002_-309-7001insTCCCCTCGCTCGCTCCCCTCCCCTCG CTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCC CTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCC TCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCT CCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCT CGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCT CGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTC CCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCC CCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCC	SEMA4D	ENSG00000187764.12	transcript	ENST00000422704.7	protein_coding	1/15			chr9	TogoVar
SEPTIN9_chr17_77276499_77505593	77484739	G G	GTGATGTG others(415): Show GTGATGTGGGTGGTGGTGGTGATTGTGATGGTGGTGGCGATGGTGGTGAT TGTGATGGTGGTGATGTGGGTGGTGGTGATTGTGATGGTTGTGATTGTGA TGGTGGTGGTGGTGATGATGATGGTGGTGATTGTGATGGTGGTGATGGGA GTGATGCTGGTGATTGTGGTGGTGAAGGGGGTGATGCTGGTGATTGTGGT GAAGGGGGTGATGGTGGTGATTGTGATGGTGAAGGGGGTGATGGTGATTG TGATGGTGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTG ATGGTGGCGATTGTGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGT GATGGGGCGATGGTGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGGT GATTGTGATGGTGGTGATGGTGA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02559.hp1 HG02630.hp2 others(5): Show HG02451.hp2 HG02559.hp1 HG02630.hp2 HG02818.hp2 HG03130.hp2 HG03453.hp1 HG03453.hp2 HG03516.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0007 a0001c0001t0017 others(1): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0017 a0002c0002t0045	a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0130 others(5): Show a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0133 a0001c0001t0007g0146 a0001c0001t0017g0140 a0002c0002t0045g0042	8	150	0.0533	422	c.913 others(439): Show c.913+2406_913+2407insATGTGGGTGGTGGTGGTGATTGTGATGG TGGTGGCGATGGTGGTGATTGTGATGGTGGTGATGTGGGTGGTGGTGATT GTGATGGTTGTGATTGTGATGGTGGTGGTGGTGATGATGATGGTGGTGAT TGTGATGGTGGTGATGGGAGTGATGCTGGTGATTGTGGTGGTGAAGGGGG TGATGCTGGTGATTGTGGTGAAGGGGGTGATGGTGGTGATTGTGATGGTG AAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGGCGAT TGTGGTGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGA TGGTGATTGTGATGGTGGTGATGGGGCGATGGTGGTGATTGTGATGGTGG TGAAGGGGGTGATGGTGGTGATTGTGATGGTGGTGATGGTGATG	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77484739	G G	GTGATGTG others(415): Show GTGATGTGGGTGGTGGTGGTGATTGTGATGGTGGTGGCGATGGTGGTGAT TGTGATGGTGGTGATGTGGGTGGTGGTGATTGTGATGGTTGTGATTGTGA TGGTGGTGGTGGTGATGATGATGGTGGTGATTGTGATGGTGGTGATGGGA GTGATGCTGGTGATTGTGGTGGTGAAGGGGGTGATGCTGGTGATTGTGGT GAAGGGGGTGATGGTGGTGATTGTGATGGTGAAGGGGGTGATGGTGATTG TGATGGTGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTG ATGGTGGCGATTGTGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGT GATGGGGCGATGGTGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGGT GATTGTGATGGTGGTGATGGTGA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02630.hp2 HG02818.hp2 others(4): Show HG02559.hp2 HG02630.hp2 HG02818.hp2 HG03130.hp1 HG03453.hp1 HG03453.hp2 HG03516.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0023 a0001c0001t0054 others(2): Show a0001c0001t0002 a0001c0001t0023 a0001c0001t0054 a0001c0001t0056 a0002c0002t0009	a0001c0001t0002g0077 a0001c0001t0002g0155 a0001c0001t0023g0066 others(4): Show a0001c0001t0002g0077 a0001c0001t0002g0155 a0001c0001t0023g0066 a0001c0001t0023g0068 a0001c0001t0054g0073 a0001c0001t0056g0075 a0002c0002t0009g0136	7	158	0.0443	422	c.859 others(439): Show c.859+2406_859+2407insATGTGGGTGGTGGTGGTGATTGTGATGG TGGTGGCGATGGTGGTGATTGTGATGGTGGTGATGTGGGTGGTGGTGATT GTGATGGTTGTGATTGTGATGGTGGTGGTGGTGATGATGATGGTGGTGAT TGTGATGGTGGTGATGGGAGTGATGCTGGTGATTGTGGTGGTGAAGGGGG TGATGCTGGTGATTGTGGTGAAGGGGGTGATGGTGGTGATTGTGATGGTG AAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGGCGAT TGTGGTGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGA TGGTGATTGTGATGGTGGTGATGGGGCGATGGTGGTGATTGTGATGGTGG TGAAGGGGGTGATGGTGGTGATTGTGATGGTGGTGATGGTGATG	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SIGIRR_chr11_400716_419999	401950	C C	CCCGCTCA others(415): Show CCCGCTCACCCCGGGCCCCGCTCACACCCGCCCCGCTCACACCCGACCCG CTCACACCCGACCCGCTCACCCCCGACCCGCTCACCCCCGACCCGCTCAC CCCAGCCCCGCTCACCCCCGACCCGCTCACCCCGGACCCCGCTCACACCG GACCCCGCTCACACCCGGCCCCGCTCACACCCGACCCGCTCACCCCCGAC CCGCTCACCCCCGACCCGCTCACCCCGGGCCCCGCTCACACCCGCCCCGC TCACACCCGGCCCCGCTCACACCCGACCCGCTCACACCCGACCCGCTCAC CCCCGGCCCCGCTCACCCCGGCCCCGCTCACCCCGGCCCCGCTCACACCC GCCCCGCTCACCCGGGACCCCGCTCACACCCGCCCCGCTCACCCCGGACC CCGCTCACCCCCGGCCCCGCTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	242	0.0041	422	c.39 others(433): Show c.3945_*3946insTGAGCGGGGCCGGGGGTGAGCGGGGTCCGGGGTG AGCGGGGCGGGTGTGAGCGGGGTCCCGGGTGAGCGGGGCGGGTGTGAGCG GGGCCGGGGTGAGCGGGGCCGGGGTGAGCGGGGCCGGGGGTGAGCGGGTC GGGTGTGAGCGGGTCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCGGGT GTGAGCGGGGCCCGGGGTGAGCGGGTCGGGGGTGAGCGGGTCGGGGGTGA GCGGGTCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGTCCGGTGTGAGCG GGGTCCGGGGTGAGCGGGTCGGGGGTGAGCGGGGCTGGGGTGAGCGGGTC GGGGGTGAGCGGGTCGGGGGTGAGCGGGTCGGGTGTGAGCGGGTCGGGTG TGAGCGGGGCGGGTGTGAGCGGGGCCCGGGGTGAGCGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3765		chr11	TogoVar

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Search Results (Total: 10000 hits)