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
MRPL24_chr1_156732303_156746088	156735537	A A	AAAAAAAA others(406): Show AAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGTAGA CCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCTAC AGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGACC CTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAAGG TCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTACT AAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCCCA GCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGGAG CTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAGAG CGAGACGCCATCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp2 HG03491.hp2 NA18942.hp2 HG03130.hp2 HG03491.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0024 a0001c0001t0001g0053 a0001c0001t0001g0003 a0001c0001t0001g0024 a0001c0001t0001g0053	3	364	0.0082	413	c.18 others(424): Show c.1860_*1861insGAGATGGCGTCTCGCTCTGTTGCCCAGGCTGGAG TGCAGTAGCACAATCTCGGCTCACTACAAGCTCCGCCTCCCGGTTTCACG CCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTACTCGCC ACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACC ATGTTCACCAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCAGCCTC GGCATCCCAAATATATATTTTTAAAGACAGGGTCTTCCTGTCACCCAGGC TGGAGAGCAGCAGGGCAATCATAGCTCACTGTAGCCTCAAACACCTCAAT CCTCCCACCTCAGCCTCCCAAGTAGCTGGGTCTACAAGTATGAGCTACCA TGCCTGCCTATTTTTTTTTTTTTTTTTTT	MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding		1765		chr1	TogoVar
MRPL24_chr1_156732303_156746088	156735538	A A	AAAAAAAA others(406): Show AAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGTAGA CCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCTAC AGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGACC CTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAAGG TCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTACT AAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCCCA GCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGGAG CTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAGAG CGAGACGCCATCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG03654.hp2 HG00323.hp1 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	2	364	0.0055	413	c.18 others(424): Show c.1859_*1860insGAGATGGCGTCTCGCTCTGTTGCCCAGGCTGGAG TGCAGTAGCACAATCTCGGCTCACTACAAGCTCCGCCTCCCGGTTTCACG CCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTACTCGCC ACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACC ATGTTCACCAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCAGCCTC GGCATCCCAAATATATATTTTTAAAGACAGGGTCTTCCTGTCACCCAGGC TGGAGAGCAGCAGGGCAATCATAGCTCACTGTAGCCTCAAACACCTCAAT CCTCCCACCTCAGCCTCCCAAGTAGCTGGGTCTACAAGTATGAGCTACCA TGCCTGCCTATTTTTTTTTTTTTTTTTTT	MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding		1764		chr1	TogoVar
MSR1_chr8_16102881_16197651	16189506	T T	TTTTATAT others(406): Show TTTTATATATATAAAATCTTATTTTATATATATTTTATATATATAAAATC TTATTTTATATATATTTTATATATATAAAATCTTATTTTATATATATTTT ATATATATAAAATCTTATTTTATATATATTTTATATATATAAAATCTTAT TTTATATATATTTTATATATATAAAATCTTATTTTATATATTATATATAT ATAAAATCTTATTTTATATATATTTTATATATATAAAATCTTATTTTATA TATATTTTATATATATAAAATCTTATTTTAGATATATTTTATATATATAA AATCTTATTTTAGATATATTTTATATATATAAAATCTTATTTTAGATATA TTTTATATATATAAAATCTTATTTTAGATATATTTTATATATATAAAATC TTATTTTAGATATA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	330	0.0030	413	c.-5+ others(428): Show c.-5+3091_-5+3092insTATATCTAAAATAAGATTTTATATATATAA AATATATCTAAAATAAGATTTTATATATATAAAATATATCTAAAATAAGA TTTTATATATATAAAATATATCTAAAATAAGATTTTATATATATAAAATA TATCTAAAATAAGATTTTATATATATAAAATATATATAAAATAAGATTTT ATATATATAAAATATATATAAAATAAGATTTTATATATATATAATATATA AAATAAGATTTTATATATATAAAATATATATAAAATAAGATTTTATATAT ATAAAATATATATAAAATAAGATTTTATATATATAAAATATATATAAAAT AAGATTTTATATATATAAAATATATATAAAATAAGATTTTATATATATAA AATATATATAAAATAAGATTTTATATATATAAA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
MYLK4_chr6_2658637_2755922	2694524	G G	GTGGTGGT others(406): Show GTGGTGGTGGTGATGGTGATGGTGGTGGTGGTGGTAGTGGTAGTGGTGGT GGTGGTGGTGGTAGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGG TGGTGATGGTGGTGGTGGTGGTAGTGGTAGTGGTGGTGGTGGTGGTGGTA GTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGC GGCGATGGTGGTGGTGGTGATGGTGGCGGCGGTGGCAGTAGTGGTGGTGG TGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGTG GTGGTAGTCGTGGTGGTAGTGGTAATGATGGTGGTGACCATGATGGTGGT GGTAGTGGTAGTGCTGCTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGA TGGTGGTAGTGTTC	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	384	0.0026	413	c.160 others(430): Show c.160-1666_160-1665insGAACACTACCACCATCACCACCACCACC ATCACCACCACCACCACCAGCAGCACTACCACTACCACCACCATCATGGT CACCACCATCATTACCACTACCACCACGACTACCACCACCACCACCACTA CCACCACCACCACCACCACCACCACCACCATCACCACCACCACCACTACT GCCACCGCCGCCACCATCACCACCACCACCATCGCCGCCACCACCACCAC CACCACCATCACCACCACCACCACCACCACCACCACTACCACCACCACCA CCACCACTACCACTACCACCACCACCACCATCACCACCACCACCATCACC ACCACCACCACCACCACCACCACTACCACCACCACCACCACCACTACCAC TACCACCACCACCACCATCACCATCACCACCACCA	MYLK4	ENSG00000145949.12	transcript	ENST00000274643.9	protein_coding	2/12			chr6	TogoVar
MYLK4_chr6_2658637_2755922	2694524	G G	GTGGTGGT others(406): Show GTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGCGGCGATGGT GGTGGTGGTGATGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGCGGCGA TGGTGGTGGTGGTGGTGGTGGCGGTGGTGGTGGTGGTGGTGGTGGTGGTG GTGATGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGCGGCGATGGTGGT GGTGGTGATGGTGGCGGCGGTGGCAGTAGTGGTGGTGGTGGTGATGGTGG TGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGCA GTAGTGGTGGTGGTGGTGATGGTGGTGGTGGTAGTGGTAATGATGGTGGT GACCATGATGGTGGTGGTAGTGGTAGTGCTGCTGGTGGTGGTGGTGGTGA TGGTGGTAGTGTTC	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0069 a0001c0001t0003g0069	1	384	0.0026	413	c.160 others(430): Show c.160-1666_160-1665insGAACACTACCACCATCACCACCACCACC ACCAGCAGCACTACCACTACCACCACCATCATGGTCACCACCATCATTAC CACTACCACCACCACCATCACCACCACCACCACTACTGCCACCACCACCA CCACCACCATCACCACCACCACCATCACCACCACCACCACCATCACCACC ACCACCACTACTGCCACCGCCGCCACCATCACCACCACCACCATCGCCGC CACCACCACCACCACCACCATCACCACCACCATCACCACCACCACCACCA CCACCACCACCACCGCCACCACCACCACCACCACCATCGCCGCCACCACC ACCACCACCACCATCACCACCACCATCACCACCACCACCATCGCCGCCAC CACCACCACCACCATCACCACCACCACCACCACCA	MYLK4	ENSG00000145949.12	transcript	ENST00000274643.9	protein_coding	2/12			chr6	TogoVar
NHLRC4_chr16_562005_574495	571109	C C	CTGGCTAG others(406): Show CTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCT GGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCT GTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTGTGTGTGTGT CTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCTGTGTGTGTGTGTGT GTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCGTGTGT GTGTGTGGGGGGGGGGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAGCCTG TGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTG TGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTGTGTGTGTGTGTCTGGC TAGCCTGGCACCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	424	0.0024	413	c.26 others(424): Show c.2690_*2691insTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTG TGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTG TGTGTGTGTGTGTCTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATG TGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCC TGTGTGTGTGTGTGTGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGC CTGGTGCCCGTGTGTGTGTGTGGGGGGGGGGGGCTAGCCTTGTGTGTGTG TGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGC TAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTGT GTGTGTGTGTCTGGCTAGCCTGGCACCCG	NHLRC4	ENSG00000257108.2	transcript	ENST00000424439.3	protein_coding		1615		chr16	TogoVar
NT5C1A_chr1_39646229_39677107	39664492	T T	TCTCCTCC others(406): Show TCTCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCTCTCCCCTCCCCTCCCA CCCTCCCCCCCTCCCCTTCCCCTCCCCTCCCCTCCCCCTTCCCCTTCCCC TCCCCTCCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCC CTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTC CCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCT TCCCCTCCCCTCCCCCTTCCCCTTCCCTCTCCCCTTCCCCTCCCCTCCCC CTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTTCCCTC TCCCCTTCCCCTCC	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA19000.hp1 NA18968.hp2 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0010	2	326	0.0061	413	c.433 others(430): Show c.433+1028_433+1029insGGAGGGGAAGGGGAGAGGGAAGGGGAAG GGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAGGGG AAGGGGAGAGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAG GGGAGGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGA GGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGGG AAGGGGAAGGGGGAGGGGAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGG GGGAGGGGAGGGGAGGGGAAGGGGAGGGGGGGAGGGTGGGAGGGGAGGGG AGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGAG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NT5C1A_chr1_39646229_39677107	39664497	T T	TCCTCTCC others(406): Show TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCC CTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCTCCCC CTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCTTCCCCTCCC CCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTTCCCTCTCCCC TTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0082 a0001c0001t0006g0082	1	326	0.0031	413	c.433 others(430): Show c.433+1023_433+1024insGGAGGGGAGGGGAAGGGGAGAGGGAAGG GGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGGAGGGGAAGGGG GAGGGGAGGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGG GGAGGGGGAGGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGAGGGGAGGGGAGGGGAGGGGAGGGG AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
PAK2_chr3_196734857_196837647	196811208	T T	TCCCTTCC others(406): Show TCCCTTCCTTCCCTTCCCTACCCTCCCTTCCCTCCCTTCCTTCCCTTCCC TACCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTT CCCTCCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCCTCCCTTCCTTCCCT TCCCTACCCTCTCCCTTCCCTTCCTCCCTCCCTTCCCTCCTCCTTCCTTC CCTTCCCTACCCTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCC CTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCT TCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTC CCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCC TTCCCTTCCCTCCC	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0077 a0001c0001t0026g0077	1	178	0.0056	413	c.773 others(428): Show c.773+555_773+556insCCCTTCCTTCCCTTCCCTACCCTCCCTTCC CTCCCTTCCTTCCCTTCCCTACCCTCCCTTCCCTCCCTTCCTTCCCTCCC TTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCTTCCTTCCTTCCTCCC TTCCCTCCCTTCCTTCCCTTCCCTACCCTCTCCCTTCCCTTCCTCCCTCC CTTCCCTCCTCCTTCCTTCCCTTCCCTACCCTCCCTTCCCTCCCTCCCTT CCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCC CTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCT TCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTC CCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCC	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	8/14			chr3	TogoVar
PCBP3_chr21_45638725_45947450	45896443	A A	ACTGTAGG others(406): Show ACTGTAGGAAAGGCAGACATGGCACATAGAACCGGAGATGCACTGCCCGG GCCATTGTCTCTGTAGGAAAGGCAGACATGGCACATAGAACCGGAGATGC ACTGCCCGGGCCATTGTCTCTGTAGGAAAGGCGGCCGCGGCACATAGAAC CGGAGATGCACTGCCCGGGCCATTGTCTCTGTAGGAAAGGCAGACATGGC ACATAGAACCGGAGATGCACTGCCCGGGCCATTGGCACTGTAGGAAAGGC GGCCGCGGCACATAGAACCAGAGATGCACTGCCCGGGCCATTGTCTCTGT AGGAAAGGCAGACATGGCACATAGAACCAGAGATGCACTGCCCGGGCCAT TGTCTCTGTAGGAAAGGCGGCCGCGGCACATAGAACTGGAGACGCACTGC CCGGGCCATTGTCT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01975.hp2 HG02080.hp2 others(6): Show HG00280.hp1 HG01975.hp2 HG02080.hp2 HG02165.hp2 HG03491.hp1 HG03710.hp2 HG03942.hp2 HG04199.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 others(6): Show a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0062 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093	9	292	0.0308	413	c.165 others(428): Show c.165+230_165+231insCGGAGATGCACTGCCCGGGCCATTGTCTCT GTAGGAAAGGCAGACATGGCACATAGAACCGGAGATGCACTGCCCGGGCC ATTGGCACTGTAGGAAAGGCGGCCGCGGCACATAGAACCAGAGATGCACT GCCCGGGCCATTGTCTCTGTAGGAAAGGCAGACATGGCACATAGAACCAG AGATGCACTGCCCGGGCCATTGTCTCTGTAGGAAAGGCGGCCGCGGCACA TAGAACTGGAGACGCACTGCCCGGGCCATTGTCTCTGTAGGAAAGGCAGA CATGGCACATAGAACCGGAGATGCACTGCCCGGGCCATTGTCTCTGTAGG AAAGGCAGACATGGCACATAGAACCGGAGATGCACTGCCCGGGCCATTGT CTCTGTAGGAAAGGCGGCCGCGGCACATAGAAC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45896653	G G	GGAGATGC others(406): Show GGAGATGCACTGCCCGGGCCATTGTCTCTGTAGGAAAGGCAGACATGGCA CATAGAACCGGAGATGCACTGCCCGGGCCATTGTCTCTGTAGGAAAGGCG GCCGCGGCACATAGAACCGGAGATGCACTGCCCGGGCCATTGTCTCTGTA GGAAAGGCAGACATGGCACATAGAACCGGAGATGCACTGCCCGGGCCATT GTCTCTGTAGGAAAGGCAGACATGGCACATAGAACCGGAGATGCACTGCC CGGGCCATTGTCTCTGTAGGAAAGGCGGCCGCGGCACATAGAACCGGAGA TGCACTGCCCGGGCCATTGTCTCTGTAGGAAAGGCGGACATGGCACATAG AACCGGAGATGCACTGCCCGGGCCATTGTCTCTGTAGGAAAGGCGGACAT GGCACATAGAACCA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	292	0.0034	413	c.165 others(428): Show c.165+314_165+315insTCTCTGTAGGAAAGGCAGACATGGCACATA GAACCGGAGATGCACTGCCCGGGCCATTGTCTCTGTAGGAAAGGCGGCCG CGGCACATAGAACCGGAGATGCACTGCCCGGGCCATTGTCTCTGTAGGAA AGGCAGACATGGCACATAGAACCGGAGATGCACTGCCCGGGCCATTGTCT CTGTAGGAAAGGCAGACATGGCACATAGAACCGGAGATGCACTGCCCGGG CCATTGTCTCTGTAGGAAAGGCGGCCGCGGCACATAGAACCGGAGATGCA CTGCCCGGGCCATTGTCTCTGTAGGAAAGGCGGACATGGCACATAGAACC GGAGATGCACTGCCCGGGCCATTGTCTCTGTAGGAAAGGCGGACATGGCA CATAGAACCAGAGATGCACTGCCCGGGCCATTG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45896875	C C	CGGCACAT others(406): Show CGGCACATAGAACTGGAGACGCACTGCCTGGGCCATTGTCTCTGTAGGAA AGGCGGACATGGCACATAGAACCGGAGATGCACTGCCCGGGCCATTGTCT CTGTAGGAAAGGCAGACATGGCACATAGAACCGGAGATGCACTGCCCGGG CCATTGTCTCTGTAGGAAAGGCGGACATGGCACATAGAACCAGAGATGCA CTGCCCGGGCCATTGTCTCTGTAGGAAAGGCAGACATGGCACATAGAACC GGAGATGCACTGCCCGGGCCATTGTCTCTGTAGGAAAGGCGGACATGGCA CATAGAACCGGAGATGCACTGCCCGGGCCATTGTCTCTGTAGGAAAGGCG GACATGGCACATAGAACCAGAGATGCACTGCCCGGGCCATTGTCTCTGTA GGAAAGGCAGACAT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01069.hp2 HG01071.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0145 a0001c0002t0001g0146	2	292	0.0069	413	c.165 others(428): Show c.165+525_165+526insTGGAGACGCACTGCCTGGGCCATTGTCTCT GTAGGAAAGGCGGACATGGCACATAGAACCGGAGATGCACTGCCCGGGCC ATTGTCTCTGTAGGAAAGGCAGACATGGCACATAGAACCGGAGATGCACT GCCCGGGCCATTGTCTCTGTAGGAAAGGCGGACATGGCACATAGAACCAG AGATGCACTGCCCGGGCCATTGTCTCTGTAGGAAAGGCAGACATGGCACA TAGAACCGGAGATGCACTGCCCGGGCCATTGTCTCTGTAGGAAAGGCGGA CATGGCACATAGAACCGGAGATGCACTGCCCGGGCCATTGTCTCTGTAGG AAAGGCGGACATGGCACATAGAACCAGAGATGCACTGCCCGGGCCATTGT CTCTGTAGGAAAGGCAGACATGGCACATAGAAC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741338	G G	GGGGGGCG others(406): Show GGGGGGCGGGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCGGGCGGGGG GCGGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGC GGGGGGCGGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCGGGCGGGGGG GCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCGGGC GGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGG GGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCGG GCGGGGGGCGGGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGG GGGCTCGCGGGGGGCGGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCGG GCGGGGGGGCTCGC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0326 a0001c0001t0004g0326	1	358	0.0028	413	c.143 others(428): Show c.143-324_143-323insCGGGCGGGGGGGCTCGCGGGGGGCTCGCGG GGGGCGGGCGGGGGGCGGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCT CGCGGGGGGCTCGCGGGGGGCGGGCGGGGGGCTCGCGGGGGGCTCGCGGG GGGCGGGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCT CGCGGGGGGCGGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGG GGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGG CTCGCGGGGGGCGGGCGGGGGGCGGGCGGGGGGGCTCGCGGGGGGCTCGC GGGGGGCTCGCGGGGGGCTCGCGGGGGGCGGGCGGGGGGCTCGCGGGGGG CTCGCGGGGGGCGGGCGGGGGGGCTCGCGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PIGQ_chr16_564968_589109	571109	C C	CTGGCTAG others(406): Show CTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCT GGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCT GTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTGTGTGTGTGT CTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCTGTGTGTGTGTGTGT GTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCGTGTGT GTGTGTGGGGGGGGGGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAGCCTG TGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTG TGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTGTGTGTGTGTGTCTGGC TAGCCTGGCACCCG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0152 a0002c0001t0001g0152	1	408	0.0025	413	c.-10 others(430): Show c.-10+1024_-10+1025insTGTGTGTGTGTCTGGCTAGCCTGTGTGT GTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGT GTGTGTGTCTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGT GTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCTGTGT GTGTGTGTGTGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGT GCCCGTGTGTGTGTGTGGGGGGGGGGGGCTAGCCTTGTGTGTGTGTGTCT GGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGCC TGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTGTGTGTG TGTGTCTGGCTAGCCTGGCACCCGTGGCTAGCCTG	PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PKHD1_chr6_51610299_52092613	51989903	G G	GGAAGGAA others(406): Show GGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAGGAAGGA AGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAAGAAGGAAGGA AGGAAGGAAGGAAGGAAAGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAA GAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAAGAAGGAAGGAAGGA AGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGA AGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGA AGAAAGGAAGGAAA	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0019 a0019	a0019c0049 a0019c0049	a0019c0049t0001 a0019c0049t0001	a0019c0049t0001g0035 a0019c0049t0001g0035	1	134	0.0075	413	c.575 others(434): Show c.5751+20405_5751+20406insTTTCCTTCCTTTCTTCCTTCCTTC TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTT TCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTC TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTC CTTCTTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCT TCCTTCCTTCCTTCTTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTC TTTCCTTCCTTCCTCCCTCCCTCCCTCCTCCCTCCCTCCTTCCTTCCTTC CCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTC	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66			chr6	TogoVar
PRKCZ_chr1_2045411_2190395	2106627	C C	CTTCAGCA others(406): Show CTTCAGCAGGCCCCTCCGGTGGGCGAGGACCTCCACACGTGTCACCAGGC CAGGTGACTCTTCAGCAGGCCCCTCCGGTGGGCGAGGACCTCCATGCGTG TCACCAGGCCAGGTGACTCTTCAGCAAGCCCCTCTGGTGGGCGAGGACCT CCACGTGTGTCACCAGGCCAGGTAACTCTCAGCAAGCCCCTCCGGTGGGC GAGGACCTCCACACGTGTCACCAGGCCAGGTGACTCTTCAGCAGGCCCCT CCGGTGGGCGAGGACCTCCACACGTGTCACCAGGCCAGGTGACTCTTCAG CAGGCCCCTCCGGTGGGCGAGGACCTCCACACGTGTCACCAGGCCAGGTG ACTCTTCAGCAGGCCCCTCCGGTGGGCGAGGACCTCCATGCGTGTCACCA GGCCAGGTGACTCT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG03239.hp1 HG00280.hp2 HG03239.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0001 a0001c0002t0002 a0001c0003t0001	a0001c0002t0002g0032 a0001c0003t0001g0138 a0001c0002t0002g0032 a0001c0003t0001g0138	2	286	0.0070	413	c.335 others(432): Show c.335-28634_335-28633insTCAGCAGGCCCCTCCGGTGGGCGAGG ACCTCCACACGTGTCACCAGGCCAGGTGACTCTTCAGCAGGCCCCTCCGG TGGGCGAGGACCTCCATGCGTGTCACCAGGCCAGGTGACTCTTCAGCAAG CCCCTCTGGTGGGCGAGGACCTCCACGTGTGTCACCAGGCCAGGTAACTC TCAGCAAGCCCCTCCGGTGGGCGAGGACCTCCACACGTGTCACCAGGCCA GGTGACTCTTCAGCAGGCCCCTCCGGTGGGCGAGGACCTCCACACGTGTC ACCAGGCCAGGTGACTCTTCAGCAGGCCCCTCCGGTGGGCGAGGACCTCC ACACGTGTCACCAGGCCAGGTGACTCTTCAGCAGGCCCCTCCGGTGGGCG AGGACCTCCATGCGTGTCACCAGGCCAGGTGACTCTT	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2123797	G G	GTCATGGT others(406): Show GTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGT TAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTA TAGTTGGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATG GTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGT CACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCGTGGTGGTAGTTA GGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTA GTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGT GGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGGGTCACGGC TATAGTTAGGGTCA	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0196 a0001c0003t0001g0196	1	286	0.0035	413	c.335 others(432): Show c.335-11464_335-11463insCATGGTGGTAGTTAGGGTCACGGCTG TAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATG GTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGAT CATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTG GGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTA GTTAGGGTCGTGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGT GGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCA CGGCTATAGTTGGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGG GTCATGGTGGTAGGGTCACGGCTATAGTTAGGGTCAT	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKN_chr6_161342417_162732766	161350871	T T	TTTTTATA others(406): Show TTTTTATATATTTATATTTAAAATATATATATTTTTATATATTTATATTT AAAATATATATATTTTTATATATTTATATTTAAAATATATATATTTTTAT ATATTTATATTTAAAATATATATATTTTTATATATTTATATTTAAAATAT ATATATTTTTATATATTTATATTTAAAATATATATATTTTTATATATTTA TATTTAAAATATATATATTTTTATATATTTATATTTAAAATATATATATT TTTATATATTTATATTTAAAATATATATATTTTTATATATTTATATTTAA AATATATATATTTTTATATATTTATATTTAAAATATATATATTTTTATAT ATTTATATTTAAAATATATATAAATATATTTTATATATTTATATTTAAAA TATATATAAATATA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0025 a0001c0003t0001g0025	1	32	0.0313	413	c.128 others(430): Show c.1286-661_1286-660insTATATTTATATATATTTTAAATATAAAT ATATAAAATATATTTATATATATTTTAAATATAAATATATAAAAATATAT ATATTTTAAATATAAATATATAAAAATATATATATTTTAAATATAAATAT ATAAAAATATATATATTTTAAATATAAATATATAAAAATATATATATTTT AAATATAAATATATAAAAATATATATATTTTAAATATAAATATATAAAAA TATATATATTTTAAATATAAATATATAAAAATATATATATTTTAAATATA AATATATAAAAATATATATATTTTAAATATAAATATATAAAAATATATAT ATTTTAAATATAAATATATAAAAATATATATATTTTAAATATAAATATAT AAAAATATATATATTTTAAATATAAATATATAAAA	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	11/11			chr6	TogoVar
PRPF31_chr19_54110754_54136713	54133748	T T	TTCTCTCC others(406): Show TTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCT CCCTCCCTCTCCACCTCCCCTCTCTGTCCCTCCCTCTCTCCACCTCCCCT CTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCA CCTCCCCTCTCTGTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCC CTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCCCTCTGTCCCTCCCTC TCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTC TCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTC CCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTC CCTCTGTCCCTCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	227	0.0044	413	c.23 others(424): Show c.2316_*2317insTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCT CCACCTCCCCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTGTCCCTCCCT CTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCT CTTCCTCCCTCTCCACCTCCCCTCTCTGTCCCTCCCTCTCTCCACCTTCC CTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCC CTCTGTCCCTCCCTCTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTC CACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTC CCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTC TCTCCACCTCCCCTCCCTCTGTCCCTCCC	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2036		chr19	TogoVar
PRPF31_chr19_54110754_54136713	54133748	T T	TTCTCTCC others(406): Show TTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCT CTCCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCTTCTCTCCACCTC CCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTC CACCTCCCCTCTCTCTCTCCCTCCTTCTCTCCACCTCCCCTCTCTCTCTT CCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTG TCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTC TCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCT CCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTC CCTCTGTCCCTCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	227	0.0044	413	c.23 others(424): Show c.2316_*2317insTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCT CCACCTCCCCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCT CCTTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCT CTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCTTCTCTCCACC TCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTC TCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTC CACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTT CCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTG TCTCCACCTCCCCTCCCTCTGTCCCTCCC	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2036		chr19	TogoVar
RAB11FIP3_chr16_420649_528011	504703	C C	CGCCTCAC others(406): Show CGCCTCACCTCCTCCTATACCCCCTCACCTCCTCCTATACCCCCTCACCT CTTCCTGCACCCTCCTCACCTCCTCCTGCACCCCCATCTCCTCCTGTACC CCCCTCACCTCCTCCTGCACCCCCCTTACCTCCTGTACCCCCTCACCTCC TCCTGTACCCCCCTCACCTCTTCCTGTACCCTTCACTTCCTCCTGTACCC CCTCACCTCCTCCTGCACCCCCCTTACCTCCTGTACCCCCTCACCTCCTC CTGTACCGCCTCACCTCCTCCTATACCCCCTCACCTCCTCCTATACCCCC TCACCTCTTCCTGCACCCTCCTCACCTCCTCCTGCACCCCCATCTCCTCC TGTACCCCCTCACCTCCTCCTGCACCCCCCTTACCTCCTGTACCCCCTCA CCTCCTCCTGTACT	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	295	0.0034	413	c.139 others(430): Show c.1396-709_1396-708insCCTGCACCCCCCTTACCTCCTGTACCCC CTCACCTCCTCCTGTACCCCCCTCACCTCTTCCTGTACCCTTCACTTCCT CCTGTACCCCCTCACCTCCTCCTGCACCCCCCTTACCTCCTGTACCCCCT CACCTCCTCCTGTACCGCCTCACCTCCTCCTATACCCCCTCACCTCCTCC TATACCCCCTCACCTCTTCCTGCACCCTCCTCACCTCCTCCTGCACCCCC ATCTCCTCCTGTACCCCCTCACCTCCTCCTGCACCCCCCTTACCTCCTGT ACCCCCTCACCTCCTCCTGTACTGCCTCACCTCCTCCTATACCCCCTCAC CTCCTCCTATACCCCCTCACCTCTTCCTGCACCCTCCTCACCTCCTCCTG CACCCCCATCTCCTCCTGTACCCCCCTCACCTCCT	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
REEP6_chr19_1486181_1502927	1500849	A A	AGGGGAAG others(406): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGAGGGGGAGG GGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGG GGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGGAG GAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGGGGG GAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAGGAG GAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGAGGA GGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGAGGAGGGGAAGGG AGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGGAGGAG GGGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	318	0.0031	413	c.36 others(424): Show c.3638_*3639insGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGG AGGGGGAGGGGGAGGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGG GGGGAGGAGGGGAGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGG GGGAGGAGGGGGGAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGG GAGGAGGGGAGGGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGG GGAGGAGGGAAGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAA GGGGGAGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGG GGAGGAGGGGAAGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAG GGGACGGGGGAGGAGGGGAGGGGGGAGGG	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		2923		chr19	TogoVar
RGPD5_chr2_109789305_109862705	109794573	A A	ACCCGGCC others(406): Show ACCCGGCCGGGGGGGGAGGGGGGGGGGCGGCGGCGGCGGCCTCGGCCCGG CCGGGGGGCGGCGGCGGCGGCGGCCTCGGCCCGGCCGGGGGGCGGCGGCG GCGGCGGCGGCGGCGGCGGCGGCCTCGGCCCGGCCGGGGGGCGGCGGCGG CGGCGGCCTCGGCCCGGCCGGGGGGCGGCGGCGGCGGCGGCCTCGGCCCC GGCCCGGCCGGGGGGCGGCGGCGGCGGCGGCCTCGGCCCCGGCCCGGCCG GGGGGCGGCGGCGGCGGCGGCCTCGGCCCCGGCCCGGCCGGGGGGGGGGC GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCCTCGGCCCCGGCCCGGCCGG GGGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC GGCGGCGGCCCCGG	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0015 a0003c0003t0002g0015	1	40	0.0250	413	c.72+ others(424): Show c.72+49_72+50insGGAGGGGGGGGGGCGGCGGCGGCGGCCTCGGCCC GGCCGGGGGGCGGCGGCGGCGGCGGCCTCGGCCCGGCCGGGGGGCGGCGG CGGCGGCGGCGGCGGCGGCGGCGGCCTCGGCCCGGCCGGGGGGCGGCGGC GGCGGCGGCCTCGGCCCGGCCGGGGGGCGGCGGCGGCGGCGGCCTCGGCC CCGGCCCGGCCGGGGGGCGGCGGCGGCGGCGGCCTCGGCCCCGGCCCGGC CGGGGGGCGGCGGCGGCGGCGGCCTCGGCCCCGGCCCGGCCGGGGGGGGG GCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCCTCGGCCCCGGCCCGGCC GGGGGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG GCGGCGGCGGCCCCGGCCCGGCCGGGGGG	RGPD5	ENSG00000015568.13	transcript	ENST00000016946.8	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
RNF139_chr8_124469880_124493618	124483108	T T	TATTATTT others(406): Show TATTATTTAAATATATATATATTTAAAAATATATATATTAAAAATATATA TATTTAAATATATATATTTTTAAATATGTATATTTAAATTATATAATTTA AATATATATTAATATACATATTTTAATATATATAATTTAATATATATCTT TAAATATATATATTAATATATATTTAAAATATATATTTAAATATATATTA ATATATATATTTAAAGATATATATTAAATTATATATATTAAAATATGTAT ATTAATATATATTTAAATTATATAATTTAAATATACATATTTAAAAATAT ATATATTTAAATATATATATTTTTAATATATATATTTTTAAATATATATA TATTTATATATATATTTTTAAATATATATATATATTTATATATATATTTT TAAATATATATATA	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18947.hp1 NA19054.hp1 others(1): Show NA18939.hp2 NA18947.hp1 NA19054.hp1 NA19064.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0028 a0001c0002t0002g0188 a0001c0002t0002g0028 a0001c0002t0002g0188	4	408	0.0098	413	c.182 others(430): Show c.182-2723_182-2722insATTATTTAAATATATATATATTTAAAAA TATATATATTAAAAATATATATATTTAAATATATATATTTTTAAATATGT ATATTTAAATTATATAATTTAAATATATATTAATATACATATTTTAATAT ATATAATTTAATATATATCTTTAAATATATATATTAATATATATTTAAAA TATATATTTAAATATATATTAATATATATATTTAAAGATATATATTAAAT TATATATATTAAAATATGTATATTAATATATATTTAAATTATATAATTTA AATATACATATTTAAAAATATATATATTTAAATATATATATTTTTAATAT ATATATTTTTAAATATATATATATTTATATATATATTTTTAAATATATAT ATATATTTATATATATATTTTTAAATATATATATA	RNF139	ENSG00000170881.5	transcript	ENST00000303545.4	protein_coding	1/1			chr8	TogoVar
RTN4IP1_chr6_106565771_106634498	106589237	G G	GGAGGAGG others(406): Show GGAGGAGGAGGGAGGAGGAGGGAGGGGGAGGGAGGGGGAGGGGAGGAGGA GGGAGGGGGAGGGAGGAGGAGGGAGGGGGAGGGAGGAGGAGGGAGGGGGA GGGAGGGGGAGGGAGGGGGAGGGAGGGGGAGGGAGGGGGAGGGAGGGGGA GGGAGGGGGAGGAGGGAGGGAGGGGGAGGGAGGGAGGAGGGAGGGGGAGG AGGGAGGGGGAGGAGGGAGGGGGAGGAGGGAGGGGGAGAAGGGGGAGAAG AAGGAGAAGAAGGAGAAGAGGAAGAGGAAGAAGAGGAAGAGGAAGGAGGA GAAGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGG AGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAG GAGAAGAAGGAGGA	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0372 a0001c0001t0006g0372	1	396	0.0025	413	c.807 others(430): Show c.807-1376_807-1375insTCCTCCTTCTTCTCCTCCTCCTTCTCCT CCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTCC TCCTTCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTTCCTCTT CCTCTTCTTCCTCTTCCTCTTCTCCTTCTTCTCCTTCTTCTCCCCCTTCT CCCCCTCCCTCCTCCCCCTCCCTCCTCCCCCTCCCTCCTCCCCCTCCCTC CTCCCTCCCTCCCCCTCCCTCCCTCCTCCCCCTCCCTCCCCCTCCCTCCC CCTCCCTCCCCCTCCCTCCCCCTCCCTCCCCCTCCCTCCCCCTCCCTCCT CCTCCCTCCCCCTCCCTCCTCCTCCCTCCCCCTCCCTCCTCCTCCCCTCC CCCTCCCTCCCCCTCCCTCCTCCTCCCTCCTCCTC	RTN4IP1	ENSG00000130347.13	transcript	ENST00000369063.8	protein_coding	6/8			chr6	TogoVar
SARDH_chr9_133658560_133743352	133668470	T T	TCCCCTCA others(406): Show TCCCCTCACCCTCTCTCTCCCTCACCCTCCCTCTCCCCTCGCCCTCCCTC TCCCCTCGCCCTCCCTCTCCCCTCACCCTCACCCTCCCTCTCCCTCACCC TCACCCTCCCTCTCCCTCACCCTCCCTCTCCCCTCACCCTCTCTCTCCCT CACCCTCCCTCTCCCCTCGCCCTCCCTCTCCCCTCGCCCTCCCTCTCCCC TCACCCTCACCCTCCCTCTCCCTCACCCTCACCCTCCCTCTCCCCTCGCC CTCCCTCTCCCCTCGCCCTCCCTCTCCCCTCTCCCTCACCCTCCCTCTCC CCTCACCCTCCCTCTCCCTCACCCTCCCTCTCCCCTCATCCTCCCTCTCC CTCACCCTCCCTCTCCCCTTACCCTCCCCCTCCCTCACCCTCCCTCTCCC TCACCCTCCCTCTC	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0219 a0002c0002t0004g0219	1	262	0.0038	413	c.249 others(432): Show c.2496-1601_2496-1600insGAGAGGGAGGGTGAGGGAGAGGGAGG GTGAGGGAGGGGGAGGGTAAGGGGAGAGGGAGGGTGAGGGAGAGGGAGGA TGAGGGGAGAGGGAGGGTGAGGGAGAGGGAGGGTGAGGGGAGAGGGAGGG TGAGGGAGAGGGGAGAGGGAGGGCGAGGGGAGAGGGAGGGCGAGGGGAGA GGGAGGGTGAGGGTGAGGGAGAGGGAGGGTGAGGGTGAGGGGAGAGGGAG GGCGAGGGGAGAGGGAGGGCGAGGGGAGAGGGAGGGTGAGGGAGAGAGAG GGTGAGGGGAGAGGGAGGGTGAGGGAGAGGGAGGGTGAGGGTGAGGGAGA GGGAGGGTGAGGGTGAGGGGAGAGGGAGGGCGAGGGGAGAGGGAGGGCGA GGGGAGAGGGAGGGTGAGGGAGAGAGAGGGTGAGGGG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SCARA5_chr8_27864883_27997673	27919296	A A	AGGAGGAG others(406): Show AGGAGGAGAGAATAGAGGAGGAGGAGGGAATAGAGGAGGAGGAGAGAAGG GAGGAGGAGAAGAGAAGGGAGGAGGAGAGAGCGCCGCGGCTTCGTATCTC CGTTAGGAGGCGAGCGCCGGTGAGGAGAAGGACGCGTCTGCGTCGTCTTG TCTCCGTTATTCTTCTTCTCCTTCTCTTCTGTCTTCTTCTCCTTCCGCCC CTGTCGGCGCCGGCCGCCGGTGCTGGGGCGCGGGCAGAGGAAGAAGGGGA TGGGAAGCGGTTCCCTCTTGCTTGCGGTGCTTGGTCCACGCTGCCTCGCT CCTGCGTGCCTTCGTTCCGCTCCTCGGCGGCGAGGACGAGGAGGAAGAGA CGGGGGGAGGCTGAGCCCGCTTCGCCGGTCCGCGTCCGCGTATGCAGGCT GCGGCAGGCTGAGT	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0026 a0001c0003t0026	a0001c0003t0026g0129 a0001c0003t0026g0129	1	314	0.0032	413	c.916 others(430): Show c.916+2274_916+2275insACTCAGCCTGCCGCAGCCTGCATACGCG GACGCGGACCGGCGAAGCGGGCTCAGCCTCCCCCCGTCTCTTCCTCCTCG TCCTCGCCGCCGAGGAGCGGAACGAAGGCACGCAGGAGCGAGGCAGCGTG GACCAAGCACCGCAAGCAAGAGGGAACCGCTTCCCATCCCCTTCTTCCTC TGCCCGCGCCCCAGCACCGGCGGCCGGCGCCGACAGGGGCGGAAGGAGAA GAAGACAGAAGAGAAGGAGAAGAAGAATAACGGAGACAAGACGACGCAGA CGCGTCCTTCTCCTCACCGGCGCTCGCCTCCTAACGGAGATACGAAGCCG CGGCGCTCTCTCCTCCTCCCTTCTCTTCTCCTCCTCCCTTCTCTCCTCCT CCTCTATTCCCTCCTCCTCCTCTATTCTCTCCTCC	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding	4/8			chr8	TogoVar
SCNN1D_chr1_1275436_1297025	1284171	G G	GGGGGGTT others(406): Show GGGGGGTTGGGTGAGGGGGGTGGGGTCGGGGGGGGGGTTGAGTGAGGGGG GTGGGGGGGTTGGGTGGGGGGTTGGGTGAGGGGGTTGGGGGGGTTGGGTG AGGGGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGGTGAG GGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGGGGG GTTGGGTGAGGGGGTTGGGGGGGTTGGGTGAGGGGGGTGGGGGGTTGGGT GAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGG GGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTT GGGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTG GGGGGGTTGAGTGA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0012 a0012	a0012c0022 a0012c0022	a0012c0022t0006 a0012c0022t0006	a0012c0022t0006g0132 a0012c0022t0006g0132	1	290	0.0035	413	c.464 others(426): Show c.464+91_464+92insTGAGGGGGGTGGGGTCGGGGGGGGGGTTGAGT GAGGGGGGTGGGGGGGTTGGGTGGGGGGTTGGGTGAGGGGGTTGGGGGGG TTGGGTGAGGGGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTT GGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGG GTGGGGGGTTGGGTGAGGGGGTTGGGGGGGTTGGGTGAGGGGGGTGGGGG GTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGG TGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTG AGGGGTTGGGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGG TGGGGTGGGGGGGTTGAGTGAGGGGGTTGGG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SENP7_chr3_101319205_101518212	101439968	C C	CGGCCAGC others(406): Show CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCCGCC CGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGGGTCAGCCCCCCCG CCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC CCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGGGGGGTCAGCCCCCCCGCCCAGCCAGCCGCCCTGTC CGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTAAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCA GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGT CGGCCCCCCTGCCT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0048 a0002c0002t0003g0048	1	370	0.0027	413	c.284 others(432): Show c.284+18986_284+18987insAGGCAGGGGGGCCGACCCCCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTTACTTCCC AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCT GGCTGGGCGGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCCCTCACCTCCCGGACAGGGCGGCTGGCTGGGCGGGGGGGCTGA CCCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCGGGGGGGCC GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC	SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	4/23			chr3	TogoVar
SERINC2_chr1_31408213_31439678	31431922	T T	TAGGGTGG others(406): Show TAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGATAGGG TGGACAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGATGGTT AGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGATGGTTAGGGT GGATAGGGTGGATAGGGTGGATAGGGTGGATAGGATGGTTAGGGTGGATA GGATGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTG GATAGGGTGGAGAGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGATAGG GTGGATAGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGTTAGGGTGGA TAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGG TGGATAGGGTGGAC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01069.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0133 a0001c0001t0004g0134 a0001c0001t0004g0133 a0001c0001t0004g0134	2	376	0.0053	413	c.101 others(432): Show c.1014-1029_1014-1028insATAGGGTGGATAGGGTGGACAGGGTG GATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAG GATGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGATGG TTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGATGGTTAGG GTGGATAGGATGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGT TAGGGTGGATAGGGTGGAGAGGTGGATAGGGTGGAGAGGGTGGATAGGGT GGATAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGTTA GGGTGGATAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGATAGGGTG GATAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SIK3_chr11_116838402_117103428	116947170	T T	TATTATTT others(406): Show TATTATTTATATATAATATATAATATATAAATTATTATTTATATATAATA TATAATATATAAATTATTATTTATATATAATATATAATATATAAATTATT ATTTATATATAATATATAATATATAAATTATTATTTATATATAATATATA ATATATAAATTATTATTTATATATAATATATAATATATAAATTATTATTT ATATATAATATATAATATATAAATTATTATTTATATATAATATATAATAT ATAAATTATTATTTATATATAATATATAATATATAAATTATTATTTATAT ATAATATATAATATATAAATTATTATTTATATATAATATATAATATATAA ATTATTATTTATATATAATATATTATATATAAATTATTATTTATATATAA TATATTATATATAA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0026 a0001c0002t0005g0026	1	366	0.0027	413	c.454 others(430): Show c.454+6873_454+6874insTTATATATAATATATTATATATAAATAA TAATTTATATATAATATATTATATATAAATAATAATTTATATATTATATA TTATATATAAATAATAATTTATATATTATATATTATATATAAATAATAAT TTATATATTATATATTATATATAAATAATAATTTATATATTATATATTAT ATATAAATAATAATTTATATATTATATATTATATATAAATAATAATTTAT ATATTATATATTATATATAAATAATAATTTATATATTATATATTATATAT AAATAATAATTTATATATTATATATTATATATAAATAATAATTTATATAT TATATATTATATATAAATAATAATTTATATATTATATATTATATATAAAT AATAATTTATATATTATATATTATATATAAATAAT	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	3/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	116947184	A A	AATATATA others(406): Show AATATATAATATATAAATTATTATTTATATATAATATATAATATATAAAT TATTATTTATATATAATATATAATATATAAATTATTATTTATATATAATA TATAATATATAAATTATTATTTATATATAATATATAATATATAAATTATT ATTTATATATAATATATAATATATAAATTATTATTTATATATAATATATA ATATATAAATTATTATTTATATATAATATATAATATATAAATTATTATTT ATATATAATATATAATATATAAATTATTATTTATATATAATATATAATAT ATAAATTATTATTTATATATAATATATAATATATAAATTATTATTTATAT ATAATATATTATATATAAATTATTATTTATATATAATATATTATATATAA ATTATTTATATATT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03486.hp1 HG02818.hp2 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0025 a0001c0002t0005g0027 a0001c0002t0005g0025 a0001c0002t0005g0027	2	366	0.0055	413	c.454 others(430): Show c.454+6859_454+6860insAATATATAAATAATTTATATATAATATA TTATATATAAATAATAATTTATATATAATATATTATATATAAATAATAAT TTATATATTATATATTATATATAAATAATAATTTATATATTATATATTAT ATATAAATAATAATTTATATATTATATATTATATATAAATAATAATTTAT ATATTATATATTATATATAAATAATAATTTATATATTATATATTATATAT AAATAATAATTTATATATTATATATTATATATAAATAATAATTTATATAT TATATATTATATATAAATAATAATTTATATATTATATATTATATATAAAT AATAATTTATATATTATATATTATATATAAATAATAATTTATATATTATA TATTATATATAAATAATAATTTATATATTATATAT	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	3/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	116947184	A A	AATATATA others(406): Show AATATATAATATATAAATTATTATTTATATATAATATATAATATATAAAT TATTATTTATATATAATATATAATATATAAATTATTATTTATATATAATA TATTATATATAAATTATTATTTATATATAATATATAATATATAAATTATT ATTTATATATAATATATAATATATAAATTATTATTTATATATAATATATA ATATATAAATTATTATTTATATATAATATATAATATATAAATTATTATTT ATATATAATATATAATATATAAATTATTATTTATATATAATATATAATAT ATAAATTATTATTTATGTATAATATATAATATATAAATTATTATTTATGT ATAATATATTATATATAAATTATTATTTATATATAATATATAATATATAA ATTATTTATATATT	intron_variant intron_variant	MODIFIER	HG03225.hp1 NA19043.hp2 HG03225.hp1 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0022 a0001c0002t0005g0023 a0001c0002t0005g0022 a0001c0002t0005g0023	2	366	0.0055	413	c.454 others(430): Show c.454+6859_454+6860insAATATATAAATAATTTATATATTATATA TTATATATAAATAATAATTTATATATAATATATTATACATAAATAATAAT TTATATATTATATATTATACATAAATAATAATTTATATATTATATATTAT ATATAAATAATAATTTATATATTATATATTATATATAAATAATAATTTAT ATATTATATATTATATATAAATAATAATTTATATATTATATATTATATAT AAATAATAATTTATATATTATATATTATATATAAATAATAATTTATATAT TATATATTATATATAAATAATAATTTATATATAATATATTATATATAAAT AATAATTTATATATTATATATTATATATAAATAATAATTTATATATTATA TATTATATATAAATAATAATTTATATATTATATAT	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	3/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	116947184	A A	AATATATA others(406): Show AATATATAATATATAAATTATTATTTATATATAATATATAATATATAAAT TATTATTTATATATAATATATAATATATAAATTATTATTTATATATAATA TATTATATATAAATTATTATTTATATATAATATATTATATATAAATTATT ATTTATATATAATATATAATATATAAATTATTATTTATATATAATATATA ATATATAAATTATTATTTATATATAATATATAATATATAAATTATTATTT ATATATAATATATAATATATAAATTATTATTTATATATAATATATAATAT ATAAATTATTATTTATGTATAATATATAATATATAAATTATTATTTATGT ATAATATATAATATATAAATTATTATTTATATATAATATATTATATATAA ATTATTTATATATT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02615.hp1 HG03130.hp2 others(1): Show HG01074.hp1 HG02615.hp1 HG03130.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0015 a0001c0002t0005 a0001c0002t0015	a0001c0002t0005g0031 a0001c0002t0005g0032 a0001c0002t0005g0167 others(1): Show a0001c0002t0005g0031 a0001c0002t0005g0032 a0001c0002t0005g0167 a0001c0002t0015g0033	4	366	0.0109	413	c.454 others(430): Show c.454+6859_454+6860insAATATATAAATAATTTATATATAATATA TTATATATAAATAATAATTTATATATTATATATTATACATAAATAATAAT TTATATATTATATATTATACATAAATAATAATTTATATATTATATATTAT ATATAAATAATAATTTATATATTATATATTATATATAAATAATAATTTAT ATATTATATATTATATATAAATAATAATTTATATATTATATATTATATAT AAATAATAATTTATATATTATATATTATATATAAATAATAATTTATATAT AATATATTATATATAAATAATAATTTATATATAATATATTATATATAAAT AATAATTTATATATTATATATTATATATAAATAATAATTTATATATTATA TATTATATATAAATAATAATTTATATATTATATAT	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	3/24			chr11	TogoVar
SLC66A2_chr18_79897420_79956653	79919501	T T	TGAGGAGA others(406): Show TGAGGAGAGACAGGAACCAAGGGAGAGGTCAAGCTCAGTGGGGAGAGATG GAACCGAGGGAGAGGTCAAGGTCAGTGGGGAGAGATGGAACCGACTGAGA GGTCAAGGTCAGTGGGGAGAGACGGAACCGAGTGAGAGGTCAAGGTCAGT GGGGAGAGACGGAACTGAGGGAGAGGTCAAGCTCAGTGGGGAGAGATGGA ACCGACTGAGAGGTCAAGGTCAGTGGGGAGAGACGGAACCGAGTGAGAGG TCAGGGTCAGTGGGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGAG GAGGAGAGACGGGAACTGAGGGAGAGGTCAGGGTCAGTGAGGAGAGACAG GAACCGAGGGAGAGGTCAAGCTCAGTGGGGAGAGACGGAACCGAGTGAGA GGTCAAGGTCAGTG	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	352	0.0028	413	c.392 others(428): Show c.392-102_392-101insCACTGACCTTGACCTCTCACTCGGTTCCGT CTCTCCCCACTGAGCTTGACCTCTCCCTCGGTTCCTGTCTCTCCTCACTG ACCCTGACCTCTCCCTCAGTTCCCGTCTCTCCTCCTCTGACCTTGACCTC TCCCTCGGTTCCTGTCTCTCCCCACTGACCCTGACCTCTCACTCGGTTCC GTCTCTCCCCACTGACCTTGACCTCTCAGTCGGTTCCATCTCTCCCCACT GAGCTTGACCTCTCCCTCAGTTCCGTCTCTCCCCACTGACCTTGACCTCT CACTCGGTTCCGTCTCTCCCCACTGACCTTGACCTCTCAGTCGGTTCCAT CTCTCCCCACTGACCTTGACCTCTCCCTCGGTTCCATCTCTCCCCACTGA GCTTGACCTCTCCCTTGGTTCCTGTCTCTCCTC	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SMOC2_chr6_168436184_168672992	168596484	A A	AGGGTGCT others(406): Show AGGGTGCTGCTGGAGAGGAATGAACAGGTGCCATGTGAACACGGCAGTGC TGAGTTTCCCGGGTGCTGCTGGAGAGGAATGAACAGGTGCCATGTGAACA CGGCAGTGATGAGTTTCCTGGGTGCTGCTGGAGAGGAATGAACAGGTGCC ATGTGAACACGGCAGTGATGAGTTTCCTGGGTGCTGCTGGAGAGGAATGA ACAGGTGCTATGTGAACACGGCAGTGATGAGTTTCCTGGGTGCTGCTGGA GAGGAATGAACAGGTGCCATGTGAACACGGCAGTGATGAGTTTCCTGGGT GCTGCTGGAGAGGAATGAACAGGTGCCATGTGAACACGGCAGTGATGAGT TTCCTGGGTGCTGCTGGAGAGGAATGAACAGGTGCTATGTGAACACGGCA GTGATGAGTTTCCT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0032 a0001c0002t0002g0032	1	180	0.0056	413	c.638 others(430): Show c.638-2258_638-2257insAATGAACAGGTGCCATGTGAACACGGCA GTGATGAGTTTCCTGGGTGCTGCTGGAGAGGAATGAACAGGTGCCATGTG AACACGGCAGTGATGAGTTTCCTGGGTGCTGCTGGAGAGGAATGAACAGG TGCTATGTGAACACGGCAGTGATGAGTTTCCTGGGTGCTGCTGGAGAGGA ATGAACAGGTGCCATGTGAACACGGCAGTGATGAGTTTCCTGGGTGCTGC TGGAGAGGAATGAACAGGTGCCATGTGAACACGGCAGTGATGAGTTTCCT GGGTGCTGCTGGAGAGGAATGAACAGGTGCTATGTGAACACGGCAGTGAT GAGTTTCCTGGGTGCTGCTGGAGAGGAATGAACAGGTGCCATGTGAACAC GGCAGTGCTGAGTTTCCCGGGTGCTGCTGGAGAGG	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
STOML3_chr13_38960925_38995831	38988027	T T	TATATTTT others(406): Show TATATTTTATATCATATATTTTATATGTTATATTTTATATCATATATTTT ATATCATATATTTTATATATAATATATTATATTTTATATAAAATATATTA TATTTTATATCATATATTTTATATATAATATATTATATTTTATATCATAT ATTTTATATAAAATATATGATATTTTATATCATATATTTTATATAAAATA TATGATATTTTATATCATATATTTTATATAAAATATATGATATTTTATAT CATATATTTTATATAAAATATATGATATTTTATATCATATATTTTATATA AAATATATGATATTTTATATCATATATTTTATATAAAATATATGATATTT TATATCATATATTTTATATAAAATATATGATATTTTATATCATATATTTT ATATAAAATATATG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0248 a0001c0001t0007g0248	1	396	0.0025	413	c.52+ others(428): Show c.52+2642_52+2643insCATATATTTTATATAAAATATATGATATAA AATATCATATATTTTATATAAAATATATGATATAAAATATCATATATTTT ATATAAAATATATGATATAAAATATCATATATTTTATATAAAATATATGA TATAAAATATCATATATTTTATATAAAATATATGATATAAAATATCATAT ATTTTATATAAAATATATGATATAAAATATCATATATTTTATATAAAATA TATGATATAAAATATCATATATTTTATATAAAATATATGATATAAAATAT AATATATTATATATAAAATATATGATATAAAATATAATATATTTTATATA AAATATAATATATTATATATAAAATATATGATATAAAATATATGATATAA AATATAACATATAAAATATATGATATAAAATAT	STOML3	ENSG00000133115.12	transcript	ENST00000379631.9	protein_coding	1/6			chr13	TogoVar
SYT2_chr1_202585596_202715454	202672766	A A	AGAGGGAG others(406): Show AGAGGGAGGGGGGGAGGGGGAGAGAGAGGGGGAGGGGGAGAGAGAGGGGG AGGGGGAGAGAGAGGGGGAGGGGGAGAGAGTGGGGAGGGAGAGAGAGAAG GGGAGGCGGAGAGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGAGGG GGGAGAGGGGGAGGGGGGGAGAGAGGGGGAGGGAGGGGGGAGAGAGGGGG GAGGGAGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGGGAGGGGGGAGAGA GAGGGGGAGGGAGGGGGAGAGAGAGGGGGAGGGAGGGAGGGGGGAGAGAG AGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGAGAGAGGGGGAGGGAGGGG GGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGGGGGGGGAGAGGGGGGGGA GAGAGAGGGGGAGG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0103 a0001c0004t0103	a0001c0004t0103g0035 a0001c0004t0103g0035	1	276	0.0036	413	c.-18 others(432): Show c.-18+37491_-18+37492insCCTCCCCCTCTCTCTCCCCCCCCTCT CCCCCCCCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCC CCTCTCTCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCC TCCCTCCCTCCCCCTCTCTCTCCCCCTCCCTCCCCCTCTCTCTCCCCCCT CCCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCTCCCTCCCCCCTCTCTCC CCCCTCCCTCCCCCTCTCTCCCCCCCTCCCCCTCTCCCCCCTCCCTCCCT CCCCCTCTCTCTCCCCCCTCCCTCCCTCTCCGCCTCCCCTTCTCTCTCTC CCTCCCCACTCTCTCCCCCTCCCCCTCTCTCTCCCCCTCCCCCTCTCTCT CCCCCTCCCCCTCTCTCTCCCCCTCCCCCCCTCCCTC	SYT2	ENSG00000143858.12	transcript	ENST00000367268.5	protein_coding	1/8			chr1	TogoVar
TAF4_chr20_61969798_62070881	61985041	T T	TGTGGTAT others(406): Show TGTGGTATGGGGAGGGAAGGGGTGGCAGGGGAGGGAGGGTGCAGTGGGGG GAGGGTGTGGTGGGGGAGGGAGGTTGTGGTGGGGGGAAGGAGGAGACGGC GGGGAAAGGAGGGGGTGGTGGGGGGAGGGAGGGGGCGGCGGGGAGAGGGA GGGGTGGCGGGGGTAGGGAGGGCATGGGGGGGAGGGAGGGTGCAGCAGGG GGATGGAGGGCGTGGGGGGAGGGAGGGGGCGGCGGGGGGGAGGGAGGGCG TGGGGGGGGAGGGAGGGCGTGGGGGGGGAGGGAGGGTGTGGGGGGAGGGA GGGGGCGGCGGGAGGAGGGAGGGGGCGGCGGGAGGAGGGAGGGGGCGGCG GGAGGAGGGAGGGGGCGGCGGGAGGAGGGAGGGCATGGGGGGAGGGAGGG GGCGGCGGGGGGAG	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0051 a0001c0001t0010g0051	1	314	0.0032	413	c.309 others(432): Show c.3091-8707_3091-8706insCTCCCCCCGCCGCCCCCTCCCTCCCC CCATGCCCTCCCTCCTCCCGCCGCCCCCTCCCTCCTCCCGCCGCCCCCTC CCTCCTCCCGCCGCCCCCTCCCTCCTCCCGCCGCCCCCTCCCTCCCCCCA CACCCTCCCTCCCCCCCCACGCCCTCCCTCCCCCCCCACGCCCTCCCTCC CCCCCGCCGCCCCCTCCCTCCCCCCACGCCCTCCATCCCCCTGCTGCACC CTCCCTCCCCCCCATGCCCTCCCTACCCCCGCCACCCCTCCCTCTCCCCG CCGCCCCCTCCCTCCCCCCACCACCCCCTCCTTTCCCCGCCGTCTCCTCC TTCCCCCCACCACAACCTCCCTCCCCCACCACACCCTCCCCCCACTGCAC CCTCCCTCCCCTGCCACCCCTTCCCTCCCCATACCAC	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	14/14			chr20	TogoVar
TAF4_chr20_61969798_62070881	61985041	T T	TGTGGTAT others(406): Show TGTGGTATGGGGAGGGAAGGGGTGGCAGGGGAGGGAGGGTGCAGTGGGGG GAGGGTGTGGTGGGGGAGGGAGGTTGTGGTGGGGGGAAGGAGGAGACGGC GGGGAAAGGAGGGGGTGGTGGGGGGAGGGAGGGGGCGGCGGGGAGAGGGA GGGGTGGCGGGGGTAGGGAGGGCATGGGGGGGAGGGAGGGTGCAGCAGGG GGATGGAGGGCGTGGGGGGAGGGAGGGGGCGGCGGGGGGGAGGGAGGGCG TGGGGGGGGGAGGGAGGGCGTGGGGGGGGGAGGGAGGGCGTGGGGGGAGG GAGGGTGTGGGGGGAGGGAGGGGGCGGCGGGAGGAGGGAGGGGGCGGTGG GAGGAGGGAGGGGGCGGCGGGAGGAGGGAGGGCATGGGGGGAGGGAGGGG GCGGCGGGGGGGAG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	314	0.0032	413	c.309 others(432): Show c.3091-8707_3091-8706insCTCCCCCCCGCCGCCCCCTCCCTCCC CCCATGCCCTCCCTCCTCCCGCCGCCCCCTCCCTCCTCCCACCGCCCCCT CCCTCCTCCCGCCGCCCCCTCCCTCCCCCCACACCCTCCCTCCCCCCACG CCCTCCCTCCCCCCCCCACGCCCTCCCTCCCCCCCCCACGCCCTCCCTCC CCCCCGCCGCCCCCTCCCTCCCCCCACGCCCTCCATCCCCCTGCTGCACC CTCCCTCCCCCCCATGCCCTCCCTACCCCCGCCACCCCTCCCTCTCCCCG CCGCCCCCTCCCTCCCCCCACCACCCCCTCCTTTCCCCGCCGTCTCCTCC TTCCCCCCACCACAACCTCCCTCCCCCACCACACCCTCCCCCCACTGCAC CCTCCCTCCCCTGCCACCCCTTCCCTCCCCATACCAC	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	14/14			chr20	TogoVar
TAF4_chr20_61969798_62070881	61985041	T T	TGTGGTAT others(406): Show TGTGGTATGGGGAGGGAAGGGGTGGCAGGGGAGGGAGGGTGCAGTGGGGG GAGGGTGTGGTGGGGGAGGGAGGTTGTGGTGGGGGGAAGGAGGAGACGGC GGGGAAAGGAGGGGGTGGTGGGGGGAGGGAGGGGGCGGCGGGGAGAGGGA GGGGTGGCGGGGGTAGGGAGGGCATGGGGGGGAGGGAGGGTGCAGCAGGG GGATGGAGGGCGTGGGGGGAGGGAGGGGGCGGCGGGGGGGGAGGGAGGGC GTGGGGGGGGAGGGAGGGCGTGGGGGGGGAGGGAGGGCGTGGGGGGGGAG GGAGGGTGTGGGGGGAGGGAGGGGGCGGCGGGAGGAGGGAGGGGGCGGCG GGAGGAGGGAGGGGGCGGCGGGAGGAGGGAGGGCATGGGGGGAGGGAGGG GGCGGCGGGGGGAG	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	314	0.0032	413	c.309 others(432): Show c.3091-8707_3091-8706insCTCCCCCCGCCGCCCCCTCCCTCCCC CCATGCCCTCCCTCCTCCCGCCGCCCCCTCCCTCCTCCCGCCGCCCCCTC CCTCCTCCCGCCGCCCCCTCCCTCCCCCCACACCCTCCCTCCCCCCCCAC GCCCTCCCTCCCCCCCCACGCCCTCCCTCCCCCCCCACGCCCTCCCTCCC CCCCCGCCGCCCCCTCCCTCCCCCCACGCCCTCCATCCCCCTGCTGCACC CTCCCTCCCCCCCATGCCCTCCCTACCCCCGCCACCCCTCCCTCTCCCCG CCGCCCCCTCCCTCCCCCCACCACCCCCTCCTTTCCCCGCCGTCTCCTCC TTCCCCCCACCACAACCTCCCTCCCCCACCACACCCTCCCCCCACTGCAC CCTCCCTCCCCTGCCACCCCTTCCCTCCCCATACCAC	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	14/14			chr20	TogoVar
TCEA3_chr1_23375909_23429748	23392405	T T	TCATACAC others(406): Show TCATACACACACACTCCACACATCATACACACACACTCCACACATCATAC ATAAAACACACTCCACACATCATACACACCACACACACTCCACACATCGT ACACAAAACACACTCCACACATCATACACAAAACACACTCCACACATCAT ACACACCACATACACTCCACACATCATACACACACACTCCACACATCATA CACACACACTCCACACGTCATACACACACACACACTCCACACATCATACA CAATACACACTCCACACATCATACACAATACACACTCCACACATCATACA CACACACTCCACACATCATACACAATACACACTCCACACATCATACACAA AACACACTCCACACATCATACACACACACTCCACACATCATGCACAATAC ACACACACTCCACA	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	378	0.0027	413	c.819 others(430): Show c.819+1473_819+1474insTGTGGAGTGTGTGTGTATTGTGCATGAT GTGTGGAGTGTGTGTGTATGATGTGTGGAGTGTGTTTTGTGTATGATGTG TGGAGTGTGTATTGTGTATGATGTGTGGAGTGTGTGTGTATGATGTGTGG AGTGTGTATTGTGTATGATGTGTGGAGTGTGTATTGTGTATGATGTGTGG AGTGTGTGTGTGTGTATGACGTGTGGAGTGTGTGTGTATGATGTGTGGAG TGTGTGTGTATGATGTGTGGAGTGTATGTGGTGTGTATGATGTGTGGAGT GTGTTTTGTGTATGATGTGTGGAGTGTGTTTTGTGTACGATGTGTGGAGT GTGTGTGGTGTGTATGATGTGTGGAGTGTGTTTTATGTATGATGTGTGGA GTGTGTGTGTATGATGTGTGGAGTGTGTGTGTATG	TCEA3	ENSG00000204219.11	transcript	ENST00000450454.7	protein_coding	8/10			chr1	TogoVar
TCF3_chr19_1604292_1657615	1628391	C C	CGGGGTGA others(406): Show CGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGATGAGGCGGGA AGGGGACAGCAGAGCTCACGGGGGTGGGGCGGGAAGGGGACAGCAGAGCT CACGGGGGTGGGGCAGGAAGGGGACAGCAGAGCTCACAGGGGATGAGGCG GGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAG CTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACAGGGGTGAGG CGGGAAGGGGACAGCAGAGCTCACAGGGGATGAGGCGGGAAGGGGACAGC AGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTG AGGCGGAAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGAC AGCAGAGCTCACAG	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0091 a0001c0007t0091	a0001c0007t0091g0300 a0001c0007t0091g0300	1	352	0.0028	413	c.299 others(428): Show c.299-966_299-965insCTGTGAGCTCTGCTGTCCCCTTCCCGCCTC ACCCCCTGTGAGCTCTGCTGTCCCCTTTCCGCCTCACCCCCTGTGAGCTC TGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGC CTCATCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCTGTGAGT TCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTC CCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCATCCCCTGTG AGCTCTGCTGTCCCCTTCCTGCCCCACCCCCGTGAGCTCTGCTGTCCCCT TCCCGCCCCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCATCCCCT GTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TERT_chr5_1248167_1300068	1273262	A A	ACATCAGA others(406): Show ACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGA CCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGT CACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACC CCACGACCACCATCCACAGTCACATCAGACCCCACGACCGCCATCCACAG TCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAG ACCCCACGACCGCCATCCACAGTCACATCAGACCCCCACAACCGCCATCC ACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACACATC AGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCG CCATCCACAGTCAC	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0320 a0001c0001t0001g0320	1	392	0.0026	413	c.228 others(430): Show c.2287-983_2287-982insGTGACTGTGGATGGCGGTCGTGGGGTCT GATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACT GTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTTGTG GGGGTCTGATGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGA CTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGT CGTGGGGTCTGATGTGACTGTGGATGGTGGTCGTGGGGTCTGATGTGGTG ACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGG TCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGAT GTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273345	C C	CCGGGACC others(406): Show CCGGGACCAACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCA TCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACAT CAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGC CATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCAC ACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCAC GACCGCCATCCACAGTCACATCAGACCCCACGACCGCCATCCACAGTCAC ATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACC GCCATCCACAGTCACCACATCAGACCCCACGACCACCATCCACAGTCACC ACACATCAGACCCT	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0106 a0001c0002t0001g0106	1	392	0.0026	413	c.228 others(432): Show c.2287-1066_2287-1065insAGGGTCTGATGTGTGGTGACTGTGGA TGGTGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTC TGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGACTGTGGAT GGCGGTCGTGGGGTCTGATGTGACTGTGGATGGCGGTCGTGGGGTCTGAT GTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTG GATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGG TCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTG TGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGG GGTCTGATGTGGTGACTGTGGATGGCGGTTGGTCCCG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
THEG_chr19_356747_381026	376879	C C	CCCCCACC others(406): Show CCCCCACCCAGCCTCTCCCCCCCCGTGCCTCCACCCAGCCTCTCCCCCTG TGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCCCCT CTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCC CTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCC CCCCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCC CCCTCTGTGCCCCCACCCAGCCTCTCCCCCTGTGTGCCCCACCCAGCCTC TCCCCCCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCT CTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGC CTCTCCCCCCTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0332 a0002c0002t0001g0332	1	370	0.0027	413	c.-91 others(422): Show c.-910_-909insCACAGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGG AGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGG GGAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGGCACACAGG GGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAG GGGGGAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGGCACAG AGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCAC AGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGC ACAGGGGGGAGAGGCTGGGTGGGGCACACAGGGGGAGAGGCTGGGTGGAG GCACGGGGGGGGAGAGGCTGGGTGGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		854		chr19	TogoVar
TRIM2_chr4_153199443_153344317	153222058	A A	AAGGAAGG others(406): Show AAGGAAGGAGAGAGGGAGCGAGGGAGGAAGGAAGGAAGGAAGGAGGAAGG AAGGAAAGAAAGCAAGGAAGGGAGGGAGGAAGGAAGGGAAGGAGGAAGGA GGGAGGAAGGAAGGGAGGGAGGGAGAGGGAGAAAAGGAACGAAAGAGTGA GGAAGGAAGGAAAGAGGGAGGAAGGGAGGAAGGAAGGAAGGGAGAGAGGA AGGAAGGAAGGAAAGAAGGAAGGAAAGAGCAAGGAAGGAAGGAAAGAGCG AGGAAGGAAGGAAAGAGCGAGGAAGGGAGGGAGGAAGGAAGGAAGGAGGA AGGAAGGAAAGAAAGCAAGGAAGGGAGGGAGGAAGGAAGGGAAGGAGGAA GGAAGGAGGGAGGGAGCGAGAGAGGAAGGAAGGGAGGGAGAAAAGAAGAG CGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0071 a0001c0003t0003g0071	1	268	0.0037	413	c.30+ others(430): Show c.30+17506_30+17507insGAGAGGGAGCGAGGGAGGAAGGAAGGAA GGAAGGAGGAAGGAAGGAAAGAAAGCAAGGAAGGGAGGGAGGAAGGAAGG GAAGGAGGAAGGAGGGAGGAAGGAAGGGAGGGAGGGAGAGGGAGAAAAGG AACGAAAGAGTGAGGAAGGAAGGAAAGAGGGAGGAAGGGAGGAAGGAAGG AAGGGAGAGAGGAAGGAAGGAAGGAAAGAAGGAAGGAAAGAGCAAGGAAG GAAGGAAAGAGCGAGGAAGGAAGGAAAGAGCGAGGAAGGGAGGGAGGAAG GAAGGAAGGAGGAAGGAAGGAAAGAAAGCAAGGAAGGGAGGGAGGAAGGA AGGGAAGGAGGAAGGAAGGAGGGAGGGAGCGAGAGAGGAAGGAAGGGAGG GAGAAAAGAAGAGCGAGGGAGGGAGGGAGGAAGGA	TRIM2	ENSG00000109654.16	transcript	ENST00000338700.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
TTLL8_chr22_50013575_50063298	50057640	T T	TGGGGGAT others(406): Show TGGGGGATCAGGTCTGGATTGTGGGTCAGGTCTGGGTTGGGATCAGGTCT GGGTTGGGGGTCAGGTCTGGGTTGGGGGTCAGGTCTGGGTTGGGGGTCAG GTCTGGGTTGGGGTCAGGTCTGGGTTGGGGGGTCAGGTCTGGGTTGGGGG TCAGGTCTGGGTTGGGGTCAGGTCTGGGTTGGGGGTCAGGTCTGGGTTGG GGTCAGGTCTGGGTTGGGGGGTCAGGTCTGGGTTGGGGGTCAGGTCTGGG TTGGGGGGTCAGGTCTGGGTTGGGGTCAGGTCTGGGTTGGGGTCAGGTCT GGGTTGGGGGGTCAGGTCTGGGTTGGGGTCAGGTCTGGGTTGGGGTCAGG TCTGGGTTGGGGGTCAGGTCTGGGTTGGGGGGTCAGGTCTGGGTTGAGCG GAAGGTCTGGGTTG	intron_variant intron_variant	MODIFIER	HG02004.hp2 NA18969.hp1 HG02004.hp2 NA18969.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0005c0005 a0002c0002 a0005c0005	a0002c0002t0001 a0005c0005t0002 a0002c0002t0001 a0005c0005t0002	a0002c0002t0001g0214 a0005c0005t0002g0215 a0002c0002t0001g0214 a0005c0005t0002g0215	2	224	0.0089	413	c.-39 others(428): Show c.-39+513_-39+514insCAACCCAGACCTTCCGCTCAACCCAGACCT GACCCCCCAACCCAGACCTGACCCCCAACCCAGACCTGACCCCAACCCAG ACCTGACCCCAACCCAGACCTGACCCCCCAACCCAGACCTGACCCCAACC CAGACCTGACCCCAACCCAGACCTGACCCCCCAACCCAGACCTGACCCCC AACCCAGACCTGACCCCCCAACCCAGACCTGACCCCAACCCAGACCTGAC CCCCAACCCAGACCTGACCCCAACCCAGACCTGACCCCCAACCCAGACCT GACCCCCCAACCCAGACCTGACCCCAACCCAGACCTGACCCCCAACCCAG ACCTGACCCCCAACCCAGACCTGACCCCCAACCCAGACCTGATCCCAACC CAGACCTGACCCACAATCCAGACCTGATCCCCC	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	1/13			chr22	TogoVar
VCX2_chrX_8164944_8176267	8169240	C C	CCCTCCCT others(406): Show CCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACA CCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTC CCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACAC CACCTCTTCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCC CTCCCCACACACCACCTCTTCCTCCCTCCCTCCCCACACACCACCTCTTC CTCCCTCCCTCCCCACACACCACCTATTCCTTCCTTCTTTCCTTTCTCCC TCCCCACACACCTCCTCTTCCTCCCTCCCTCCCCACACACCTCCTCTTCC TCCCTCCCTCCCTCCCCACACACCTCCTCTTCCCCCCTCCCTCCCTCCCC ACACACCACCTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0010 a0004c0004t0003g0010	1	115	0.0087	413	c.79 others(422): Show c.791_*792insAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGGGGAAG AGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAG GGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGAAAGGAAAGAAGGAAGG AATAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGG GAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGG TGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGG AGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGT GGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGA GGAAGAGGTGGTGTGTGGGGAGGGAGG	VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding		703		chrX	TogoVar
VCX3A_chrX_6528618_6540118	6533146	A A	ACACCTCT others(406): Show ACACCTCTTCCTTCCTCCCTCCCCACACACCTCCTCTTCCTCCCTCCCTC CCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTT CCCCCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCC CTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCACCT CTTCCTCCCTCCCTCCCTCCCCACACACCTCCTCTTCCTCCTCCCTCCCC ACACACCACCTCTTCCCCCCTCCCTCCCTCCCTCCCCACACACCACCTCT TCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCCA CACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCTCTTCCTCCCT CCCTCCCCACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0001 a0007c0008t0001	a0007c0008t0001g0007 a0007c0008t0001g0007	1	74	0.0135	413	c.59 others(422): Show c.598_*599insGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGG AGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGG TGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGA GGGAGGGAGGGGGGAAGAGGTGGTGTGTGGGGAGGGAGGAGGAAGAGGAG GTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGG GAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGG TGTGTGGGGAGGGAGGGAGGGAGGGGGGAAGAGGTGGTGTGTGGGGAGGG AGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGT GTGTGGGGAGGGAGGAAGGAAGAGGTG	VCX3A	ENSG00000169059.13	transcript	ENST00000381089.7	protein_coding		471		chrX	TogoVar

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