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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Select column to sort.

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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
PRR5L_chr11_36291288_36470204	36309624	C C	CATGATGG others(728): Show CATGATGGTGGTGGTGGTAGTGGGGATGATGGTGGTGGTGGTATTGGGGA TGATGGTGGTGGTGGTAGTGAGCATGATGGTGGTGGTGGTAGTGGGGATG ATGGTGGTGGTGGTATTGGGGATGATGGGTGGTGGTATTGGGGATGATGG TGGTGGTGGTAGTGGGGATGATGGTGGTGGTGGTATTGGGGATGATGGTG GTGGTGGTATTGGAGATGATGGTGGTGGTGGTAGTGAGGATGATGGTGGT GGTGGTAGTGGGGATGATGGTGGTGGTATTGGGGATGATGGTGGTGGTGG TAGTGGGGATGATGGTGGTGGTGGTAGTGGGGATGATGGTGGTGGTGGTA TTGGGGATGATGGTGGTGGTGGTATTGGAGATGATGGTGGTGGTGGTAGT GGGGATGATGGTGGTGGTGGTAGTGGGGATGATGGTGGTGGTGGTATTGG GGATGATGGTGGTGGTGGTAGTGGGGATGATGGTGGTGGTGGTAGTGGGG ATGATGGTGGTGGTGGTATTGGGGATGATGGTGGTGGTGGTATTGGAGAT GATGGTGGTGGTGGTAGTGAGGATGATGGTGGTGGTGGTAGTGGGGATGA TGGGTGGTGATATTGGGGATGATGGTGGTGGTGGTAGTGGGGATGATGGT GGTGGTGGTAGTGGGGATGATGGTGGTGGTGGTATTGGGGATGATGGGTG GTGGTATTGGAGATGATGGTGGTGGTGGTAGTGAGG	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0187 a0001c0001t0001g0188	2	272	0.0074	735	c.-12 others(756): Show c.-126+13216_-126+13217insGTGGTGGTGGTATTGGGGATGATG GTGGTGGTGGTAGTGAGCATGATGGTGGTGGTGGTAGTGGGGATGATGGT GGTGGTGGTATTGGGGATGATGGGTGGTGGTATTGGGGATGATGGTGGTG GTGGTAGTGGGGATGATGGTGGTGGTGGTATTGGGGATGATGGTGGTGGT GGTATTGGAGATGATGGTGGTGGTGGTAGTGAGGATGATGGTGGTGGTGG TAGTGGGGATGATGGTGGTGGTATTGGGGATGATGGTGGTGGTGGTAGTG GGGATGATGGTGGTGGTGGTAGTGGGGATGATGGTGGTGGTGGTATTGGG GATGATGGTGGTGGTGGTATTGGAGATGATGGTGGTGGTGGTAGTGGGGA TGATGGTGGTGGTGGTAGTGGGGATGATGGTGGTGGTGGTATTGGGGATG ATGGTGGTGGTGGTAGTGGGGATGATGGTGGTGGTGGTAGTGGGGATGAT GGTGGTGGTGGTATTGGGGATGATGGTGGTGGTGGTATTGGAGATGATGG TGGTGGTGGTAGTGAGGATGATGGTGGTGGTGGTAGTGGGGATGATGGGT GGTGATATTGGGGATGATGGTGGTGGTGGTAGTGGGGATGATGGTGGTGG TGGTAGTGGGGATGATGGTGGTGGTGGTATTGGGGATGATGGGTGGTGGT ATTGGAGATGATGGTGGTGGTGGTAGTGAGGATGATGGTGGTGGTGGTAG TGGGGATGATG	PRR5L	ENSG00000135362.14	transcript	ENST00000530639.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
RAB11FIP3_chr16_420649_528011	433137	C C	CATTCTCC others(728): Show CATTCTCCTGCCTCAGCCTCCCAAGAAGCTGGGACTACAGGCGCCCGCCA CCACGCCCGGCTAATTTTTATATTTTTAGTAGAGACGAAGTTTCACCATG TTAGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCTGCCCACCTCGGC CTCCCAAAGTGCTGGGATTACAGGCATGAGCTACTGTGCCCGGCCTGTCA TTTTTATATATTGGGAAAGTTTTGAGTCCTTTCTTCTAGGTATGTTGAAA TATACAGGCATGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGA GTCCGAGGCGGGTGAATCACGAGGTCAGGAGATCGAGACCATCCTGGCTA ACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCAGGC ATGGTGGTGGGCGCCTGTAGTCCCAGCTACTCCAGAGGCTGAGGCAGGAG AATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCGCCA CTGCACTCCAGCCTAGGCGACTGAGCAAGACTCTGTCTCAAAAAAAAAAA AAAAAAGAAATATACAATATATTGTTGTTAAATTTAGTCACCCTACTCTG CTACCAAACATTAGAACTTATCCTTTCTCATTGTAATTTTTTTTTTTTTT GAGATGGGGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCTATCT TGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCG	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG04199.hp1 NA18975.hp1 others(2): Show HG02738.hp1 HG04199.hp1 NA18975.hp1 NA19077.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0002t0009 a0001c0002t0026 others(1): Show a0001c0001t0001 a0001c0002t0009 a0001c0002t0026 a0001c0004t0003	a0001c0001t0001g0259 a0001c0001t0001g0283 a0001c0002t0009g0274 others(2): Show a0001c0001t0001g0259 a0001c0001t0001g0283 a0001c0002t0009g0274 a0001c0002t0026g0170 a0001c0004t0003g0116	5	295	0.0170	735	c.714 others(752): Show c.714+6437_714+6438insCAAGAAGCTGGGACTACAGGCGCCCGCC ACCACGCCCGGCTAATTTTTATATTTTTAGTAGAGACGAAGTTTCACCAT GTTAGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCTGCCCACCTCGG CCTCCCAAAGTGCTGGGATTACAGGCATGAGCTACTGTGCCCGGCCTGTC ATTTTTATATATTGGGAAAGTTTTGAGTCCTTTCTTCTAGGTATGTTGAA ATATACAGGCATGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGG AGTCCGAGGCGGGTGAATCACGAGGTCAGGAGATCGAGACCATCCTGGCT AACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCAGG CATGGTGGTGGGCGCCTGTAGTCCCAGCTACTCCAGAGGCTGAGGCAGGA GAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCGCC ACTGCACTCCAGCCTAGGCGACTGAGCAAGACTCTGTCTCAAAAAAAAAA AAAAAAAGAAATATACAATATATTGTTGTTAAATTTAGTCACCCTACTCT GCTACCAAACATTAGAACTTATCCTTTCTCATTGTAATTTTTTTTTTTTT TGAGATGGGGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCTATC TTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCCTC AGCCTCC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	433137	C C	CATTCTCC others(728): Show CATTCTCCTGCCTCAGCCTCCCAAGAAGCTGGGACTACAGGCGCCCGCCA CCACGCCCGGCTAATTTTTATATTTTTAGTAGAGACGAAGTTTCACCATG TTAGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCTGCCCACCTCGGC CTCCCAAAGTGCTGGGATTACAGGCATGAGCTACTGTGCCCGGCCTGTCA TTTTTATATATTGGGAAAGTTTTGAGTCCTTTCTTCTAGGTATGTTGAAA TATACAGGCATGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGA GTCCGAGGCGGGTGAATCACGAGGTCAGGAGATCGAGACCATCCTGGCTA ACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCAGGC ATGGTGGTGGGCGCCTGTAGTCCCAGCTACTCCAGAGGCTGAGGCAGGAG AATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCGCCA CTGCACTCCAGCCTAGGCGACTGAGCAAGACTCTGTCTCAAAAAAAAAAA AAAAAGAAATATACAATATATTGTTGTTAAATTTAGTCACCCTACTCTGC TACCAAACATTAGAACTTATCCTTTCTCATTGTAATTTTTTTTTTTTTTT GAGATGGGGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCTATCT TGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCG	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0250 a0001c0002t0002g0250	1	295	0.0034	735	c.714 others(752): Show c.714+6437_714+6438insCAAGAAGCTGGGACTACAGGCGCCCGCC ACCACGCCCGGCTAATTTTTATATTTTTAGTAGAGACGAAGTTTCACCAT GTTAGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCTGCCCACCTCGG CCTCCCAAAGTGCTGGGATTACAGGCATGAGCTACTGTGCCCGGCCTGTC ATTTTTATATATTGGGAAAGTTTTGAGTCCTTTCTTCTAGGTATGTTGAA ATATACAGGCATGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGG AGTCCGAGGCGGGTGAATCACGAGGTCAGGAGATCGAGACCATCCTGGCT AACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCAGG CATGGTGGTGGGCGCCTGTAGTCCCAGCTACTCCAGAGGCTGAGGCAGGA GAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCGCC ACTGCACTCCAGCCTAGGCGACTGAGCAAGACTCTGTCTCAAAAAAAAAA AAAAAAGAAATATACAATATATTGTTGTTAAATTTAGTCACCCTACTCTG CTACCAAACATTAGAACTTATCCTTTCTCATTGTAATTTTTTTTTTTTTT TGAGATGGGGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCTATC TTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCCTC AGCCTCC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
SENP7_chr3_101319205_101518212	101439985	T T	TGGGAGGT others(728): Show TGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCG GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCG GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGG CCCCCCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGC CCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCC CCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGGTCG GCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTG CCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGC CCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAG TGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGGTCAGCCCCCCGCCCGGCCAGACGCCCCGTCCGGGAGGGAGGTGGGGG GGGGTCGGCCCCCCTGCCTGGCCAGCTGCCCCGTCC	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0157 a0001c0003t0002g0157	1	370	0.0027	735	c.284 others(754): Show c.284+18969_284+18970insGGACGGGGCAGCTGGCCAGGCAGGGG GGCCGACCCCCCCCCACCTCCCTCCCGGACGGGGCGTCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAG GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT CCCGGACAGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGG GGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGG GCAGGGGGGCCGACCCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGTGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCCGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCC TCACCTCCC	SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	4/23			chr3	TogoVar
SENP7_chr3_101319205_101518212	101439985	T T	TGGGAGGT others(728): Show TGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCG GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGG CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGC CCCCCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCC CCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCC CCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGGTCGG CCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGC CCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCC CTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGT GAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GGTCAGCCCCCCGCCCGGCCAGACGCCCCGTCCGGGAGGGAGGTGGGGGG GGGGTCGGCCCCCCTGCCTGGCCAGCTGCCCCGTCC	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0182 a0001c0003t0002g0182	1	370	0.0027	735	c.284 others(754): Show c.284+18969_284+18970insGGACGGGGCAGCTGGCCAGGCAGGGG GGCCGACCCCCCCCCCACCTCCCTCCCGGACGGGGCGTCTGGCCGGGCGG GGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGA GGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACC TCCCGGACAGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAG GGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCG GGCAGGGGGGCCGACCCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGTGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCC TCACCTCCC	SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	4/23			chr3	TogoVar
SENP7_chr3_101319205_101518212	101439985	T T	TGGGAGGT others(728): Show TGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCG GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGG CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGC CCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCC CCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCC CCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGGTCGG CCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGC CCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCC CTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGT GAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GGTCAGCCCCCCGCCCGGCCAGACGCCCCGTCCGGGAGGGAGGTGGGGGG GGGGTCGGCCCCCCTGCCTGGCCAGCTGCCCCGTCC	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0149 a0001c0003t0002g0149	1	370	0.0027	735	c.284 others(754): Show c.284+18969_284+18970insGGACGGGGCAGCTGGCCAGGCAGGGG GGCCGACCCCCCCCCCACCTCCCTCCCGGACGGGGCGTCTGGCCGGGCGG GGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGA GGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACC TCCCGGACAGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAG GGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCG GGCAGGGGGGCCGACCCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCC TCACCTCCC	SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	4/23			chr3	TogoVar
SEPTIN9_chr17_77314518_77505593	77485015	G G	GTGATTGT others(728): Show GTGATTGTGATGGTGGTGAAGGGGGTGATGGTGGTGATTGTGATGGTGAA GGGGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGGCGATTG TGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATG GTGATTGTGATGGTGGTGATGGGGTGATGGTGGTGATGGGGCGATGGTGG TGATTGTGATGGTGGTGAAGGGGGTGATGGTGGTGATTGTGATGGTGGTG ATGGTGATGGTGGTGATTGGTGTGGTGATGTGGGTGGTGGTGGTGATGTG GGTGGTGGTGGTGATTGTGATGGGGTGATGGTAATGTGGGTGATGGTGAT TGTGGTGGTAGTGGTGGTGATGGTGATGATTGTGATGGTGGTGAAGGGGG TGATGGTGGTGATTGTGGTGGTGAAGGGGGTGATGGTGGTGATTGTGATG GTGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATGGT GATTGTGATGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGATGG GGTGATGGTGGTGATGGGGCGATGGTGGTGATTGTGATGGTGGTGAAGGG GGTGATGGTGATTGTGATGGTGGTGATTGGTGTGGTGATGTGGGTGGTGG TGGTGATGTGGGTGGTGGTGGTGATTGTGATGGGGTGATGGTAATGTGGG TGATGGTGATTGTGGTGGTAGTGGTGGTGATGGTGA	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0081 a0001c0001t0004g0081	1	158	0.0063	735	c.860 others(752): Show c.860-2368_860-2367insATGGTGAAGGGGGTGATGGTGATTGTGA TGGTGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATG GTGATTGTGATGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAT GGGGTGATGGTGGTGATGGGGCGATGGTGGTGATTGTGATGGTGGTGAAG GGGGTGATGGTGGTGATTGTGATGGTGGTGATGGTGATGGTGGTGATTGG TGTGGTGATGTGGGTGGTGGTGGTGATGTGGGTGGTGGTGGTGATTGTGA TGGGGTGATGGTAATGTGGGTGATGGTGATTGTGGTGGTAGTGGTGGTGA TGGTGATGATTGTGATGGTGGTGAAGGGGGTGATGGTGGTGATTGTGGTG GTGAAGGGGGTGATGGTGGTGATTGTGATGGTGGTGAAGGGGGTGATGGT GGCGATTGTGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGG GGGTGATGGTGATTGTGATGGTGGTGATGGGGTGATGGTGGTGATGGGGC GATGGTGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGATTGTGATGG TGGTGATTGGTGTGGTGATGTGGGTGGTGGTGGTGATGTGGGTGGTGGTG GTGATTGTGATGGGGTGATGGTAATGTGGGTGATGGTGATTGTGGTGGTA GTGGTGGTGATGGTGATGATTGTGATGGTGGTGAAGGGGGTGATGGTGGT GATTGTG	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SLC25A41_chr19_6421037_6438763	6429376	G G	GGAAGGGA others(728): Show GGAAGGGAGGTGGAGGGAGAAAAGAGGAGGAGGAGGAAGGAAAGAAGGAG AAGGAAGAAGTGAAGGGGGAGAAGGGAGAGGAGGGAGAATAGAGGAGGAG AAAGAGGAGAGGAGGAGGAGGGAGAAAAGATGAGGGGAGGGGGAGGGAGA AAGGAGGAGGGGAGGAGGAGGAAAAGGTGAAAGGGAGGAGGGAGAGGAGG GACAAAAGAGGAGAAGAGGAGGAGGGAGAAAGGGGAGGAGGAGGAAGTGA AGGGGAGGAGGGAGAAGTGGGAGAAAAGAAGAGAAAGGAGGAGGGAAGGA GGAGGAGGGAGAAAGGAAGGGAGGAGGAGGGAGAAAGGAGGGGAGGAGGA GGGAGAAAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGAAGAGGG GAGGAGGAGAGAAGAGGGGAGGAGGAGAGAGGAGGAGGGGAGGAGGAGAG AGGAGGAGGGGAGGAGGAGAGAAGAGGAGGGGAGGAGGAGGAGAGGAAGG AGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGGAAGGAAGAGAGGAGGA GGAGGAGAGGAAGGAGGAGGGGAGGAGGAGGCAGAAAGGAGGAAGGAGGG GGAGGAGGAGAGGAAAGAGTCCGGGAGGAGGAGGGAGAAAGGAGGAGGGG AGGAGGAGGGAGAAAGGAAGAGGGGAGGAGGAGGGAGAAAGGAAGAGGGG AGGAGGAGGGAGAAAGGAAGAGGGGAGGAGGAGGGA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03041.hp1 HG03453.hp1 HG02145.hp1 HG03041.hp1 HG03453.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0206 a0004c0006t0001g0207 a0004c0006t0001g0208 a0004c0006t0001g0206 a0004c0006t0001g0207 a0004c0006t0001g0208	3	350	0.0086	735	c.624 others(750): Show c.624+347_624+348insTCCCTCCTCCTCCCCTCTTCCTTTCTCCCT CCTCCTCCCCTCTTCCTTTCTCCCTCCTCCTCCCCTCTTCCTTTCTCCCT CCTCCTCCCCTCCTCCTTTCTCCCTCCTCCTCCCGGACTCTTTCCTCTCC TCCTCCCCCTCCTTCCTCCTTTCTGCCTCCTCCTCCCCTCCTCCTTCCTC TCCTCCTCCTCCTCTCTTCCTTCCTCTCCTCCTCCCCTCTTCTCTCCTCC TCCCCTCCTTCCTCTCCTCCTCCTCCCCTCCTCTTCTCTCCTCCTCCCCT CCTCCTCTCTCCTCCTCCCCTCCTCCTCTCTCCTCCTCCCCTCTTCTCTC CTCCTCCCCTCTTCTCTCCTCCTCCCCTCTTCTCTCCTCCTCCCCTCCTT TCTCCCTCCTCCTCCCCTCCTTTCTCCCTCCTCCTCCCTTCCTTTCTCCC TCCTCCTCCTTCCCTCCTCCTTTCTCTTCTTTTCTCCCACTTCTCCCTCC TCCCCTTCACTTCCTCCTCCTCCCCTTTCTCCCTCCTCCTCTTCTCCTCT TTTGTCCCTCCTCTCCCTCCTCCCTTTCACCTTTTCCTCCTCCTCCCCTC CTCCTTTCTCCCTCCCCCTCCCCTCATCTTTTCTCCCTCCTCCTCCTCTC CTCTTTCTCCTCCTCTATTCTCCCTCCTCTCCCTTCTCCCCCTTCACTTC TTCCTTCTCCTTCTTTCCTTCCTCCTCCTCCTCTTTTCTCCCTCCACCTC CCTTC	SLC25A41	ENSG00000181240.14	transcript	ENST00000321510.7	protein_coding	4/6			chr19	TogoVar
TERT_chr5_1248167_1300068	1273788	C C	CCGCCATC others(728): Show CCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGT CACCACATCAGACCCCACGACCACCATCCACAGTCACCACACATCAGACC CCACGACCGCCATCCACAGTCACCACACATCAGACCCCACAACCGCCATC CACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACAT CAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGC CATCCACAGTCACCACATCAGACCCCACGACCACCATCCACAGTCACCAC ACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCAC GACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACA GTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGA CCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATC CACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACACAT CAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGC CATCCACAGTCACCACACATCAGACCCCCACAACCGCCATCCACAGTCAC CACACATCAGACCCCACAACCGCCATCCACAGTCACCACACATCAGACCC TACGACCGCCATCCACAGTCACCACATCAGGCCCCA	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0008 a0001c0002t0001g0008	1	392	0.0026	735	c.228 others(754): Show c.2287-1509_2287-1508insTGGGGCCTGATGTGGTGACTGTGGAT GGCGGTCGTAGGGTCTGATGTGTGGTGACTGTGGATGGCGGTTGTGGGGT CTGATGTGTGGTGACTGTGGATGGCGGTTGTGGGGGTCTGATGTGTGGTG ACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTC GTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGT GGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGC GGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTG ATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTG GATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGG GGTCTGATGTGTGGTGACTGTGGATGGTGGTCGTGGGGTCTGATGTGGTG ACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTC GTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGT GGTGACTGTGGATGGCGGTTGTGGGGTCTGATGTGTGGTGACTGTGGATG GCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGTGGTCGTGGGGTC TGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTG TGGATGGCG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TGM2_chr20_38122385_38170270	38124003	C C	CTATTATA others(728): Show CTATTATATATATAATATACCTATTATATATAATATACCTATTATATATA AAATATACCTATTATATATAATATACCTATTATATGCATTATATATAATA TACCTATTATATGCATTATATATAATATACCTATTATATGCATTATATAT AATATACCTATTATATGCATTATATAATATATTATATATAATATGCATAT TATATGTATTATATATTATATATTATATATATAATATACATATTATATGT ATTATATATTATATATTATATATAATATACATATTATATGTATTATATAT TATATATAATATACATATATATTATATATTATATACATATTATATATTAT ATACATATTATATATTATATACATATTATATATTATATATTATATACATA TTATACATTATATATATCTAAAATATATAATACACATTATATATTATATA ATACACATTATATATTATATATAATACACATTATATATTATATATAATAC ACATTATATATTATATATAATACACATTATATATTATATATAATACACAT TATATATTATATAATACACATTATATATTATATATAATACACATTATATA TTATATATAATACACATTATATATTATATATAATATACATTATATATTAT ATAATACACATTATATATTATATATAATACACATTATATATATAATACAC ATTATATATTATATATAATACATAATACACATTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02886.hp1 HG06807.hp2 others(1): Show HG02258.hp2 HG02886.hp1 HG06807.hp2 NA19240.hp1	a0001 a0010 a0001 a0010	a0001c0002 a0010c0019 a0001c0002 a0010c0019	a0001c0002t0002 a0010c0019t0002 a0001c0002t0002 a0010c0019t0002	a0001c0002t0002g0173 a0001c0002t0002g0283 a0001c0002t0002g0294 others(1): Show a0001c0002t0002g0173 a0001c0002t0002g0283 a0001c0002t0002g0294 a0010c0019t0002g0045	4	360	0.0111	735	c.62 others(746): Show c.6215_*6216insTATAATGTGTATTATGTATTATATATAATATATA ATGTGTATTATATATATAATGTGTATTATATATAATATATAATGTGTATT ATATAATATATAATGTATATTATATATAATATATAATGTGTATTATATAT AATATATAATGTGTATTATATATAATATATAATGTGTATTATATAATATA TAATGTGTATTATATATAATATATAATGTGTATTATATATAATATATAAT GTGTATTATATATAATATATAATGTGTATTATATATAATATATAATGTGT ATTATATAATATATAATGTGTATTATATATTTTAGATATATATAATGTAT AATATGTATATAATATATAATATATAATATGTATATAATATATAATATGT ATATAATATATAATATGTATATAATATATAATATATATGTATATTATATA TAATATATAATACATATAATATGTATATTATATATAATATATAATATATA ATACATATAATATGTATATTATATATATAATATATAATATATAATACATA TAATATGCATATTATATATAATATATTATATAATGCATATAATAGGTATA TTATATATAATGCATATAATAGGTATATTATATATAATGCATATAATAGG TATATTATATATAATGCATATAATAGGTATATTATATATAATAGGTATAT TTTATATATAATAGGTATATTATATATAATAGGTATATTATATATATAAT A	TGM2	ENSG00000198959.12	transcript	ENST00000361475.7	protein_coding		3381		chr20	TogoVar
TMC6_chr17_78102397_78133755	78115702	G G	GGCGAAGG others(728): Show GGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGAGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACA GGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAA GGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGG GCACAGGAGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGG GCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGG AGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCA CAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGAGCG AAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGT GGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAG GGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAG GGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGA	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0367 a0003c0003t0003g0367	1	444	0.0023	735	c.227 others(754): Show c.2277+1566_2277+1567insTCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC TCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCC TTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCC TGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCA CTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTC GCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGT GCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTC CCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCT CCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCC CACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCT TCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCT GTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCTCCTGTGCCCAC TCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115807	G G	GGCGAAGG others(728): Show GGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACA GGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAA GGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGG GCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGA GCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGG AGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCA CAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCG AAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGT GGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAG GGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAG GGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGA	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0057 a0001c0005t0057	a0001c0005t0057g0311 a0001c0005t0057g0311	1	444	0.0023	735	c.227 others(754): Show c.2277+1461_2277+1462insTCCTGTGCCCACTCCCTTCGCTCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCC TTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCC TGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCA CTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTC GCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGT GCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTC CCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCC CCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCC CACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCT TCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCT GTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCAC TCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115870	G G	GGCGAAGG others(728): Show GGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGTACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAG TGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACA GGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAA GGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGG GCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGG GCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGG AGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCA CAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCG AAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGT GGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAG GGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAG GGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0048 a0002c0002t0048	a0002c0002t0048g0105 a0002c0002t0048g0105	1	444	0.0023	735	c.227 others(754): Show c.2277+1398_2277+1399insTCCTGTGCCCACTCCCTTCGCTCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC TCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCC TTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCC TGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCA CTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTC GCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGT GCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTC CCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCC CCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCC CACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCT TCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCT GTACCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCAC TCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115891	G G	AGCGAAGG others(728): Show AGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACA GGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAA GGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGG GCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGG GCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGG AGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCA CAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCG AAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGT GGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAG GGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAG GGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGG	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0002 a0007c0007t0002	a0007c0007t0002g0060 a0007c0007t0002g0060	1	444	0.0023	735	c.227 others(754): Show c.2277+1378_2277+1379insCCTGTGCCCACTCCCTTCGCCCCTGT GCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTC CCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCC CCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCC CACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCT TCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCT GTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCAC TCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCG CCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCTCCTGTG CCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCC CTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCC CTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCC ACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTT CGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCT	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115912	G G	GGCGAAGG others(728): Show GGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACA GGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAA GGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGG GCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGG GCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGG AGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCA CAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCG AAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGT GGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAG GGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAG GGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGA	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0014 a0014	a0014c0036 a0014c0036	a0014c0036t0029 a0014c0036t0029	a0014c0036t0029g0412 a0014c0036t0029g0412	1	444	0.0023	735	c.227 others(754): Show c.2277+1356_2277+1357insTCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCC TTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCC TGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCA CTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTC GCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGT GCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTC CCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCC CCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCC CACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCT TCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCT GTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCAC TCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMEM132D_chr12_129066726_129909025	129303136	C C	CAGCCTCC others(728): Show CAGCCTCCACCATCATCACTCACCAGGACTCTGCAGAGCCTCCACCATCA TCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCGGGACT CTGCAGAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCCTCCAC CATCATCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCG GGACTCTGCAGAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCC TCCACCATCATCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACT CGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCGGGACTCTGCA GAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCCTCCACCATCA TCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCGGGACT CTGCAGAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCCTCCAC CATCATCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCG GGACTCTGCAGAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCC TCCACCATCATCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACT CGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCGGGACTCTGCA GAGCCTCCACCATCATCACTCGCCGGGACTCTGCAG	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02809.hp1 HG03139.hp1 others(2): Show HG01433.hp2 HG02809.hp1 HG03139.hp1 HG03579.hp1 NA19091.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0015 a0001c0001 a0006c0015	a0001c0001t0003 a0001c0001t0006 a0001c0001t0027 others(1): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0027 a0006c0015t0024	a0001c0001t0003g0040 a0001c0001t0006g0007 a0001c0001t0006g0067 others(2): Show a0001c0001t0003g0040 a0001c0001t0006g0007 a0001c0001t0006g0067 a0001c0001t0027g0094 a0006c0015t0024g0087	5	94	0.0532	735	c.129 others(756): Show c.1299+34497_1299+34498insCTGCAGAGTCCCGGCGAGTGATGA TGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGC AGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGT GATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGC TCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGG CGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTG GAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGT CCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGA TGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGC AGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGT GATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGC TCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGG CGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTG GAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGT CCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGTCCTGGTGAGTGATGA TGGTGGAGGCT	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	4/8			chr12	TogoVar
TMPRSS2_chr21_41459305_41513158	41474620	G G	GAGTGAGG others(728): Show GAGTGAGGAGGTGAGCGGGTGAGTGAGGAGGTGAGGGGGTGAGTGAGGAG GTGAGGGGGTGAGTGAGGAGGTGAGGGGGTGAGTGAGGAGGTGAGGGGGT GAGTGAGGGGGTGAGGTGGTGAGTGAGGGGGTGAGGGGTGAGTAAGGAGG TGAGGGGGTGAGTGAGGGGGTGGGTGAGGGGTGGGTGAGGGGATGAGGGA GTGATTCAGAGGGTGAAGGGGTGAGTGAGGGAGTGAAGGCATGATTGAGG GGGTGAAGGGGTGAGTGAGGGGGTGACTGAGGGGTGAAGGGGGGAGTGAG GAGGAGAGTGAGGGGGTGAAGGCATGAGTGAGGGGGTGAATGGGTGAGAG ACGGGGTGAGTGAGGGGTGAAGGGATGAATGAGGGGGTAAGTAAGGGGTT GAGGGGGTGAGGGGGTGAGTGAGGAGGTGAAGGGTGAGTGAGGGCGTGAG GGGGTGAGGGAGTGAGGGATTAGTGAGGGGGTGAGGGGTTGAGTGAGGAG GTGAGCAGGTGGGTGAGTGGATGAAGGGGTGAGTGAGGGGGTGAGGGGTG AATGAGGGGTTGAGTAGGGGGTGAGTGAGGAGGTGAGGTGGTGAGTGAGG GGGTGAAGGGTGAGTGAGGGGGTGAGGAGGTGAGTGAGGGGGTGACGGGG TGGGGTGAGGGAGGGATGAGGGGGAGAGTGAGGAGGTGAGGAGGTGAGTG AGGGTTGAGGGAGTGAGGGGGTGAGTGAGGGGGCGA	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0321 a0001c0002t0001g0321	1	382	0.0026	735	c.728 others(752): Show c.728-1125_728-1124insTCGCCCCCTCACTCACCCCCTCACTCCC TCAACCCTCACTCACCTCCTCACCTCCTCACTCTCCCCCTCATCCCTCCC TCACCCCACCCCGTCACCCCCTCACTCACCTCCTCACCCCCTCACTCACC CTTCACCCCCTCACTCACCACCTCACCTCCTCACTCACCCCCTACTCAAC CCCTCATTCACCCCTCACCCCCTCACTCACCCCTTCATCCACTCACCCAC CTGCTCACCTCCTCACTCAACCCCTCACCCCCTCACTAATCCCTCACTCC CTCACCCCCTCACGCCCTCACTCACCCTTCACCTCCTCACTCACCCCCTC ACCCCCTCAACCCCTTACTTACCCCCTCATTCATCCCTTCACCCCTCACT CACCCCGTCTCTCACCCATTCACCCCCTCACTCATGCCTTCACCCCCTCA CTCTCCTCCTCACTCCCCCCTTCACCCCTCAGTCACCCCCTCACTCACCC CTTCACCCCCTCAATCATGCCTTCACTCCCTCACTCACCCCTTCACCCTC TGAATCACTCCCTCATCCCCTCACCCACCCCTCACCCACCCCCTCACTCA CCCCCTCACCTCCTTACTCACCCCTCACCCCCTCACTCACCACCTCACCC CCTCACTCACCCCCTCACCTCCTCACTCACCCCCTCACCTCCTCACTCAC CCCCTCACCTCCTCACTCACCCCCTCACCTCCTCACTCACCCGCTCACCT CCTCACT	TMPRSS2	ENSG00000184012.14	transcript	ENST00000332149.10	protein_coding	8/13			chr21	TogoVar
TMPRSS9_chr19_2355265_2431261	2377639	C C	CTCTCCCC others(728): Show CTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTTCCCTCT CCCCTCCCCTCTCCCCTCCCCTTCCCTCCCCTCTCCCCTCCCCCTTCCCC CTCTCCTACCCCTCCCCCTTACCCTCCCCCTTCCCCCCCTCTGCCCTCCC CTATCCCCTCCTCTGCCCTCCCCTCTCCCCTCCCCTCCCCCCTCCCCTAT CCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCC CTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCC CTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCTCCCCTCCCCTCTC CCCTCCCCTCTCCCCTCTCCCCTCTCCCCTCCCCTCCCCCCTCCCCTCCC CTCCCCCCTCCCCTCCCCTCCCCCTCCCGTCCCCCCTCCCTCCCCCTCCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCT CCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTTCCC CTCCCCTCCCCCTCCCCTCCCCCCCTCCCCTCCCCTCCCCCCTCTCCTCT CCCCTCCCCTCTCCCCTCCCCTCTCCTCCCTTTCCT	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	114	0.0088	735	c.-25 others(754): Show c.-25-12108_-25-12107insCCCTCTCCCCTCCCCTCTCCCCTCCC CTTCCCTCTCCCCTCCCCTCTCCCCTCCCCTTCCCTCCCCTCTCCCCTCC CCCTTCCCCCTCTCCTACCCCTCCCCCTTACCCTCCCCCTTCCCCCCCTC TGCCCTCCCCTATCCCCTCCTCTGCCCTCCCCTCTCCCCTCCCCTCCCCC CTCCCCTATCCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCTCCCCTCTC CCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTC CCCTCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCTCCCC TCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCTCCCCTCCCCTCCCCCC TCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCGTCCCCCCTCCCT CCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCCTCC CCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCC CCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCTC CCCCTTCCCCTCCCCTCCCCCTCCCCTCCCCCCCTCCCCTCCCCTCCCCC CTCTCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCTCCCTTTCCTTCTCC CCTCCCCTC	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
TRIM48_chr11_55257155_55276114	55273308	T T	TTATATAT others(728): Show TTATATATAAAAATTATATATATATTATATATATAAAAATTATATATATA TTATATATATAAAAATTATATATATATTATATATATAAAAATTATATATA TATTATATATATAAAAATTATATATATATTATATATATAAAAATTATATA TATATTATATATATAAAAATTATATATATATTATATATATATAAAAATTA TATATATATTATATATATATAAAAATTATATATATATTATATATATATAA AAATTATATATATATTATATATATATAAAAATTATATATATATTATATAT ATATAAAAATTATATATATATTATATATATATAAAAATTATATATTATAT ATATATAAAAATTATATATATATTATATATATATAAAAATTATATATTAT ATATATATAAAAATTATATATATATTATATATATATAAAAATTATATATA TATTATATATATATAAAAATTATATATATATTATATATATATAAAAATTA TATATATATTATATATATATAAAAATTATATATATATTATATATATATAA AAATTATATATATATTATATATATATAAAAATTTATATATATATTATATA TATATAAAAATTATATATATATTATATATATATAAAAATTATATATATAT TATATATATATAAAAATTATATATATATTATATATATATAAAAATTATAT ATATATTATATATATATAAAAATTATATATATATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	272	0.0037	735	c.28 others(746): Show c.2873_*2874insTATATATAAAAATTATATATATATTATATATATA AAAATTATATATATATTATATATATAAAAATTATATATATATTATATATA TAAAAATTATATATATATTATATATATAAAAATTATATATATATTATATA TATAAAAATTATATATATATTATATATATAAAAATTATATATATATTATA TATATATAAAAATTATATATATATTATATATATATAAAAATTATATATAT ATTATATATATATAAAAATTATATATATATTATATATATATAAAAATTAT ATATATATTATATATATATAAAAATTATATATATATTATATATATATAAA AATTATATATTATATATATATAAAAATTATATATATATTATATATATATA AAAATTATATATTATATATATATAAAAATTATATATATATTATATATATA TAAAAATTATATATATATTATATATATATAAAAATTATATATATATTATA TATATATAAAAATTATATATATATTATATATATATAAAAATTATATATAT ATTATATATATATAAAAATTATATATATATTATATATATATAAAAATTTA TATATATATTATATATATATAAAAATTATATATATATTATATATATATAA AAATTATATATATATTATATATATATAAAAATTATATATATATTATATAT ATATAAAAATTATATATATATTATATATATATAAAAATTATATATATATT A	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2195		chr11	TogoVar
USP12_chr13_27061156_27176811	27063931	A A	AGGGAGGA others(728): Show AGGGAGGAGAGGAGGGAGGGAGGAAAGAAGGGAGGGAGAGGAAGGAAGGA AGGAAGAGAGAGAGGGAAGGGAGGGGAGGGGAGGGGATGGAGGAAGGGAG TAAAGGAGAAAGGAAGGGAGGGTGAAAGAGAGAGGGAGGGAGGAAGGAGG GAGGGGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAG AGGGAGGGAGGGAGGAGGGAGGAGAGGGAGGGAGGGAGGAGGGAGGGAGG GAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAAGGAG GGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGGAGGGGGGAGGA GAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAGGGA GGGAGAAAGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGA AAGAGAGGGAGGGAGGGAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGA GGGAGGGAGGAAGGAGGGAGGAGAGGGACGGAGAAAGAGAGGGAGGGAGG AAGGAGGGAGGGGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAAGGAG GGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAGGGAGGGAGGA GAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGGAGGAAGGAGGGAGGGGA GGGAAGGGAGGGAGGAAGGGAGGGAGAGGAGGAAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG03195.hp2 HG02486.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0089 a0001c0001t0001g0084 a0001c0001t0001g0089	2	167	0.0120	735	c.53 others(746): Show c.5351_*5352insCCTTCCTCCTCTCCCTCCCTTCCTCCCTCCCTTC CCTCCCCTCCCTCCTTCCTCCCTCCCTCCCTCCCTCTCTTTCTCCCTCCC TCTCCTCCCTCCCTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCT CCCTCCTTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCCCCTCCCTCC TTCCTCCCTCCCTCTCTTTCTCCGTCCCTCTCCTCCCTCCTTCCTCCCTC CCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCTCCCTCCCTCCCTCTC TTTCTCCCTCCCTCTCCTCCCTCCTTCCTCCCTCCCTCCCTCTCTTTCTC CCTCCCTCTCCTCCCTCCTTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCC TCTCCTCCCCCCTCCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCT CCCTCCTTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCC TCCCTCCCTCCCTCCTCCCTCCCTCCCTCTCCTCCCTCCTCCCTCCCTCC CTCTCCTCCCTCCTTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCCCC TCCCTCCTTCCTCCCTCCCTCTCTCTTTCACCCTCCCTTCCTTTCTCCTT TACTCCCTTCCTCCATCCCCTCCCCTCCCCTCCCTTCCCTCTCTCTCTTC CTTCCTTCCTTCCTCTCCCTCCCTTCTTTCCTCCCTCCCTCCTCTCCTCC C	USP12	ENSG00000152484.14	transcript	ENST00000282344.11	protein_coding		2224		chr13	TogoVar
ZBED6_chr1_203790623_203859124	203839990	G G	GATGGGGT others(728): Show GATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTCACCTCAG GTGATCTGCCCGCCTCCGGCCTCCCAAAGTGTTGGGATTATAGGCGTGAG CCACCACCCCTGGCATGTTTTAAGCTTTCCAGAGTACTCTAGGGAATCTA TGATTGACATAAATCTGTTCTGTGGAGAAAAAAATTTTAACTTTTTTTTT TTTTTAAATACAGAGTCTCTCTCTGTGGCCCAGGCTGGAGTACAGTGGTG CAATCTTGGCTCACTGAAACCTCTGCCTCCCGGGTTCAAGTAATTCTCCT GCCTCAGCCTCCCTAGTAGCTAGAATTACAAGCACATGCCACCATTCCCG GCTAATTTTTGTATTTTTAGTAGAAACGAGGTTTTACCATGTTGGCCAGG CTGGTCTCAAACTCCTGACCTCAGGTTATCCACCTGCCTTGGCCTCCCAA AGTGCTGGGATTACAGATGTATGCCAACATGCGCAACAAACGTGTATTTA ACTTGTAAAAAGTTTCTGTTCAACTTTTGATTTTTTAAAATCTTTCTTTT TATTTTTTTGAGATAGAGTCTCACTCTTGTCACCCAGGTTGGAGTCCAGT GGCACGATCTCAGCTCATTGCAACCTCTACCTCCCAGGTTCAAGCGATTC TCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCATG CCTGGCTAATTTTTTTTTTTTTTTTTTTTCGTAGAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0010 a0010	a0010c0015 a0010c0015	a0010c0015t0054 a0010c0015t0054	a0010c0015t0054g0115 a0010c0015t0054g0115	1	384	0.0026	735	c.36 others(754): Show c.3673-284_*3673-283insCGAACTCCTCACCTCAGGTGATCTGC CCGCCTCCGGCCTCCCAAAGTGTTGGGATTATAGGCGTGAGCCACCACCC CTGGCATGTTTTAAGCTTTCCAGAGTACTCTAGGGAATCTATGATTGACA TAAATCTGTTCTGTGGAGAAAAAAATTTTAACTTTTTTTTTTTTTTAAAT ACAGAGTCTCTCTCTGTGGCCCAGGCTGGAGTACAGTGGTGCAATCTTGG CTCACTGAAACCTCTGCCTCCCGGGTTCAAGTAATTCTCCTGCCTCAGCC TCCCTAGTAGCTAGAATTACAAGCACATGCCACCATTCCCGGCTAATTTT TGTATTTTTAGTAGAAACGAGGTTTTACCATGTTGGCCAGGCTGGTCTCA AACTCCTGACCTCAGGTTATCCACCTGCCTTGGCCTCCCAAAGTGCTGGG ATTACAGATGTATGCCAACATGCGCAACAAACGTGTATTTAACTTGTAAA AAGTTTCTGTTCAACTTTTGATTTTTTAAAATCTTTCTTTTTATTTTTTT GAGATAGAGTCTCACTCTTGTCACCCAGGTTGGAGTCCAGTGGCACGATC TCAGCTCATTGCAACCTCTACCTCCCAGGTTCAAGCGATTCTCCTGCCTC AGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCATGCCTGGCTAA TTTTTTTTTTTTTTTTTTTTCGTAGAAATGGGGTTTCACCATGTTGGCCA GGCTGGTCT	ZBED6	ENSG00000257315.4	transcript	ENST00000550078.3	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZC3H11A_chr1_203790623_203859124	203839990	G G	GATGGGGT others(728): Show GATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTCACCTCAG GTGATCTGCCCGCCTCCGGCCTCCCAAAGTGTTGGGATTATAGGCGTGAG CCACCACCCCTGGCATGTTTTAAGCTTTCCAGAGTACTCTAGGGAATCTA TGATTGACATAAATCTGTTCTGTGGAGAAAAAAATTTTAACTTTTTTTTT TTTTTAAATACAGAGTCTCTCTCTGTGGCCCAGGCTGGAGTACAGTGGTG CAATCTTGGCTCACTGAAACCTCTGCCTCCCGGGTTCAAGTAATTCTCCT GCCTCAGCCTCCCTAGTAGCTAGAATTACAAGCACATGCCACCATTCCCG GCTAATTTTTGTATTTTTAGTAGAAACGAGGTTTTACCATGTTGGCCAGG CTGGTCTCAAACTCCTGACCTCAGGTTATCCACCTGCCTTGGCCTCCCAA AGTGCTGGGATTACAGATGTATGCCAACATGCGCAACAAACGTGTATTTA ACTTGTAAAAAGTTTCTGTTCAACTTTTGATTTTTTAAAATCTTTCTTTT TATTTTTTTGAGATAGAGTCTCACTCTTGTCACCCAGGTTGGAGTCCAGT GGCACGATCTCAGCTCATTGCAACCTCTACCTCCCAGGTTCAAGCGATTC TCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCATG CCTGGCTAATTTTTTTTTTTTTTTTTTTTCGTAGAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0286 a0001c0001t0040g0286	1	384	0.0026	735	c.974 others(750): Show c.974-284_974-283insCGAACTCCTCACCTCAGGTGATCTGCCCGC CTCCGGCCTCCCAAAGTGTTGGGATTATAGGCGTGAGCCACCACCCCTGG CATGTTTTAAGCTTTCCAGAGTACTCTAGGGAATCTATGATTGACATAAA TCTGTTCTGTGGAGAAAAAAATTTTAACTTTTTTTTTTTTTTAAATACAG AGTCTCTCTCTGTGGCCCAGGCTGGAGTACAGTGGTGCAATCTTGGCTCA CTGAAACCTCTGCCTCCCGGGTTCAAGTAATTCTCCTGCCTCAGCCTCCC TAGTAGCTAGAATTACAAGCACATGCCACCATTCCCGGCTAATTTTTGTA TTTTTAGTAGAAACGAGGTTTTACCATGTTGGCCAGGCTGGTCTCAAACT CCTGACCTCAGGTTATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTA CAGATGTATGCCAACATGCGCAACAAACGTGTATTTAACTTGTAAAAAGT TTCTGTTCAACTTTTGATTTTTTAAAATCTTTCTTTTTATTTTTTTGAGA TAGAGTCTCACTCTTGTCACCCAGGTTGGAGTCCAGTGGCACGATCTCAG CTCATTGCAACCTCTACCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCC TCCTGAGTAGCTGGGATTACAGGCACCTGCCACCATGCCTGGCTAATTTT TTTTTTTTTTTTTTTTCGTAGAAATGGGGTTTCACCATGTTGGCCAGGCT GGTCT	ZC3H11A	ENSG00000058673.17	transcript	ENST00000367210.3	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZNF236_chr18_76817557_76977901	76967266	T T	TATTTGGT others(728): Show TATTTGGTTGTTGGAGGTGATGTGATTCGTGAGATGTGTTATTTGGTTGT TGGAGGTGATGTGATTCGTGAGATGTGTTATTTGGTTGTTGGAGGTGATG TGATTCGTGAGATGTGTTATTTGGTTGTTGGAGGTGGTGTGATCTGTGAC ATTTGTGATTTGTTGTTGGAGGTGGTGTGATCTGTGAGATTTGTGATTTG GTTGTTGGAGGTGGTGTGATCTGTGACATTTGTGATTTGTTGTTGGAGGT GGTGTGATCTGTGAGATTTCTGATTTGGTTGTTGGAGGTGGTGTGATCTG TAAGATTTCTGATTTGGTTGTTGGAGGTGGTGTGCTCTGAGTTATGTGAC TTGGTTGTTGGAAGTGGTGTGATCTGTGACATTTGTGATTTGGTTGTTGG AGGTGGTGTGATCTGTGAGATTTGTGATTTAGTTGTTGGAGGTGATGTGA TCTGTGAGGTTTGTGATTTGTTGTTGGAGGTGGTGTGCTCTGAGTTATGT GATTTTGTTGTTGGAGGTGGTGTGCTCTGTGAGATTTGTGATTTGGTGTT GGAGGTGGTGGTGTGATCTGTGAGATTTGTGATTTGGTGTTGGAGGTGGT GGTGTGATCTGTGAGATTTGTGATTTGGTGTTGGAGGTGGTGGTGTGATC TGTGAGATTTGTGATTTGGTGTTGGAGGTGGTGGTGTGCTCTGAGATTTG TGATTTGGTGTTGGAGGTGGTGGTGTGATCTGTGAG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02895.hp2 HG02922.hp2 others(5): Show HG01081.hp1 HG02895.hp2 HG02922.hp2 HG03041.hp2 HG03139.hp2 HG03516.hp1 NA18522.hp1 NA20129.hp1	a0001 a0001	a0001c0010 a0001c0045 a0001c0010 a0001c0045	a0001c0010t0009 a0001c0010t0024 a0001c0045t0009 a0001c0010t0009 a0001c0010t0024 a0001c0045t0009	a0001c0010t0009g0086 a0001c0010t0009g0088 a0001c0010t0009g0089 others(5): Show a0001c0010t0009g0086 a0001c0010t0009g0088 a0001c0010t0009g0089 a0001c0010t0009g0133 a0001c0010t0009g0134 a0001c0010t0009g0135 a0001c0010t0024g0130 a0001c0045t0009g0127	8	346	0.0231	735	c.542 others(752): Show c.5420-944_5420-943insGTTGTTGGAGGTGATGTGATTCGTGAGA TGTGTTATTTGGTTGTTGGAGGTGATGTGATTCGTGAGATGTGTTATTTG GTTGTTGGAGGTGATGTGATTCGTGAGATGTGTTATTTGGTTGTTGGAGG TGGTGTGATCTGTGACATTTGTGATTTGTTGTTGGAGGTGGTGTGATCTG TGAGATTTGTGATTTGGTTGTTGGAGGTGGTGTGATCTGTGACATTTGTG ATTTGTTGTTGGAGGTGGTGTGATCTGTGAGATTTCTGATTTGGTTGTTG GAGGTGGTGTGATCTGTAAGATTTCTGATTTGGTTGTTGGAGGTGGTGTG CTCTGAGTTATGTGACTTGGTTGTTGGAAGTGGTGTGATCTGTGACATTT GTGATTTGGTTGTTGGAGGTGGTGTGATCTGTGAGATTTGTGATTTAGTT GTTGGAGGTGATGTGATCTGTGAGGTTTGTGATTTGTTGTTGGAGGTGGT GTGCTCTGAGTTATGTGATTTTGTTGTTGGAGGTGGTGTGCTCTGTGAGA TTTGTGATTTGGTGTTGGAGGTGGTGGTGTGATCTGTGAGATTTGTGATT TGGTGTTGGAGGTGGTGGTGTGATCTGTGAGATTTGTGATTTGGTGTTGG AGGTGGTGGTGTGATCTGTGAGATTTGTGATTTGGTGTTGGAGGTGGTGG TGTGCTCTGAGATTTGTGATTTGGTGTTGGAGGTGGTGGTGTGATCTGTG AGATTTG	ZNF236	ENSG00000130856.18	transcript	ENST00000320610.14	protein_coding	30/30		INFO_REALIGN_3_PRIME	chr18	TogoVar
ZNF627_chr19_11592483_11624161	11613145	C C	CCCTCCCC others(728): Show CCCTCCCCCTTCCTCATCCCCTTCCCCCCTCCCCTTCTTCCTCTCCTCCT CCCTCCCCCCCCTCCCCTTCCCTCCTCCCTCCCCCCTCCCCTCCCCCTTC TTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCTCCTCTC CTCCTCCCTCCCCCTCCCCTCCCCCTTCCCTCCTCCCTCCCCCCTCCCCT CCCCCTTCCTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTC CCCTTCCCCTTCCTCCTCTCCTCCTCCCTCCCCTCCCCCTCTCCTCCTCC CTCCCCTCCCCCTTCCCTCCTCCCTCCCCTCCCCCTCCCCTCCCCTACCC TCCTCCCTCCCCTTCCCTCCTCCCTCCCCCTCCCCGTCCCCTCCTCCTCC CCCTCCCCCTCCTCCCTCCCCCTCCCCTCCTCCCTCCCCTCCCCTCTCCC CTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCTTCCCCTCTCT TCCTCTCCCCTTCCCCTCCCCTCCCCTCCCCCTCTCCTCCCCCTCCTCTT CCCCTCTCCTCCCCTCCCCCCCTCCCCCTTCTCCCCTCTCCCCTCCCCTC CCCTTCCCTTCTCCTCCCCTCCTCCCTCCCCTCCCCATCTTCCCTCCCCT CCCCATCTTCCCTCCCCTCTACTCCCGTCACCTGTCCCTCCCCTCTCCTC CCCTCACCTGTCCCTCCCCTCTCCCCTTCCCCCTCA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	322	0.0031	735	c.4-1 others(748): Show c.4-1376_4-1375insCCTTCCTCATCCCCTTCCCCCCTCCCCTTCTT CCTCTCCTCCTCCCTCCCCCCCCTCCCCTTCCCTCCTCCCTCCCCCCTCC CCTCCCCCTTCTTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCC TTCCTCCTCTCCTCCTCCCTCCCCCTCCCCTCCCCCTTCCCTCCTCCCTC CCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCCCCTCCCCTCCCCCTTCC TCCTCCCCTTCCCCTTCCCCTTCCTCCTCTCCTCCTCCCTCCCCTCCCCC TCTCCTCCTCCCTCCCCTCCCCCTTCCCTCCTCCCTCCCCTCCCCCTCCC CTCCCCTACCCTCCTCCCTCCCCTTCCCTCCTCCCTCCCCCTCCCCGTCC CCTCCTCCTCCCCCTCCCCCTCCTCCCTCCCCCTCCCCTCCTCCCTCCCC TCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCC TTCCCCTCTCTTCCTCTCCCCTTCCCCTCCCCTCCCCTCCCCCTCTCCTC CCCCTCCTCTTCCCCTCTCCTCCCCTCCCCCCCTCCCCCTTCTCCCCTCT CCCCTCCCCTCCCCTTCCCTTCTCCTCCCCTCCTCCCTCCCCTCCCCATC TTCCCTCCCCTCCCCATCTTCCCTCCCCTCTACTCCCGTCACCTGTCCCT CCCCTCTCCTCCCCTCACCTGTCCCTCCCCTCTCCCCTTCCCCCTCACCT CCC	ZNF627	ENSG00000198551.10	transcript	ENST00000361113.10	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
ANKRD28_chr3_15662236_15802979	15742674	A A	AGCCAGCC others(729): Show AGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCC GGCCAGCCGCACCGTCTGGGAGGGAGGTGGGGGGGGGTCAGTCTCCCCCC GGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCC TACTGTGAAGTGAGGATCCCCTCTGCCCGGCCAGCCGCCCCATCCGGGAA GGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCTGGGAGG GAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCAGGAGGG AGGTGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGA GGGGCACCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGC CCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCTCC CCTACTGGGAAGTGAGGAGCCCCTCTGCCAGGCTAGCCGCCCCGTCTGGG AGGGAGGTGGGGGGTCAGCCCCCCGCCCGGCGGGAGGTGAGGGGCGCCTC TGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCC GCCCAGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGAGGGGTCAGCCCCCCGCCCGGCCAGCCGCC CTGTCCGGGAGGGAGGTGGGGGGTTCAGCCCCCGCCC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0289 a0001c0003t0005g0289	1	340	0.0029	736	c.352 others(753): Show c.352-5442_352-5441insGGGCGGGGGCTGAACCCCCCACCTCCCT CCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCTCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCACCTCCCTCCC GGACTGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCCGGGCAGAGGCGCCCCTCACCTCCCGCCGGGCGGGGGGCTGACCCCC CACCTCCCTCCCAGACGGGGCGGCTAGCCTGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGAGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCG GCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGTGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCC CCCCACCTCCCTCCCAGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCC CCCACCTCCTTCCCGGATGGGGCGGCTGGCCGGGCAGAGGGGATCCTCAC TTCACAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGG CGGCTGGCCGGGGGGAGACTGACCCCCCCCCACCTCCCTCCCAGACGGTG CGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGC	ANKRD28	ENSG00000206560.12	transcript	ENST00000683139.1	protein_coding	4/27			chr3	TogoVar
ANKRD28_chr3_15662236_15802979	15742674	A A	AGCCAGCC others(729): Show AGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG GCCAGCCGCACCGTCTGGGAGGGAGGTGGGGGGGGGTCAGTCTCCCCCCG GCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCT ACTGTGAAGTGAGGATCCCCTCTGCCCGGCCAGCCGCCCCATCCGGGAAG GAGGTGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCATCTGGGAGG GAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCAGGAGGG AGGTGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGA GGGGCACCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGC CCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCTCC CCTACTGGGAAGTGAGGAGCCCCTCTGCCAGGCTAGCCGCCCCGTCTGGG AGGGAGGTGGGGGGTCAGCCCCCCGCCCGGCGGGAGGTGAGGGGCGCCTC TGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCC GCCCAGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGAGGGGTCAGCCCCCCGCCCGGCCAGCCGCC CTGTCCGGGAGGGAGGTGGGGGGTTCAGCCCCCGCCC	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0005 a0001c0009t0005	a0001c0009t0005g0284 a0001c0009t0005g0284	1	340	0.0029	736	c.352 others(753): Show c.352-5442_352-5441insGGGCGGGGGCTGAACCCCCCACCTCCCT CCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCTCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCACCTCCCTCCC GGACTGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCCGGGCAGAGGCGCCCCTCACCTCCCGCCGGGCGGGGGGCTGACCCCC CACCTCCCTCCCAGACGGGGCGGCTAGCCTGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGAGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCG GCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGTGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCC CCCCACCTCCCTCCCAGATGGGGCGGCTGGCCGGGCGGGGGGGCTGACCC CCCCACCTCCTTCCCGGATGGGGCGGCTGGCCGGGCAGAGGGGATCCTCA CTTCACAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGG GCGGCTGGCCGGGGGGAGACTGACCCCCCCCCACCTCCCTCCCAGACGGT GCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGC	ANKRD28	ENSG00000206560.12	transcript	ENST00000683139.1	protein_coding	4/27			chr3	TogoVar
ARHGAP19_chr10_97217179_97297637	97251784	A A	AAGGGAAG others(729): Show AAGGGAAGGAAGGGGAAGGGAAGGGAAGGGAAGGGAAAGGGAAGGGAAAG GGAAGGGAAGGGAAGGAAGGGGAAGGGAAGGGAAAGGGAAGGGAAAGGGA AGGAAAGGGAAGGGAAAGGGAAGGGAAGGGGAAGGGAAGGGGAAAAGGAA GGGAAGGGGAAGGGAAGGGAAGGAAAGGGGGAAAGGGAAGGGGAAAAGGA AGGGAAGGGGAAGGGAAGGGGAAGGGAAGGGGAAAAGGAAGGGAAGGGAA GGGGAAGGGAAGGGAAGGGAATGGGAAAAGGAAGGGGAAGGGAAAAGGAA GGGAAGGGAAGGGGAAGGGAAAGGGAAGAAAGGAAGGGGAAGGGAAAGGG AAGGGAAGGGAAAGGGAAGGAAAGGGAAAGGGAAGGGGAAGGGGAAGGGA AAGGGAAGGGTAAGGGGAAGGGAAGGGGAAGGGAAAAGTAAGGGAAAGGA GAGGGGAAGGGAAAGGGAGGGGAAGGGAAGGGGAAGGGGAAGGAAAAGGA AGGGGAAGGGAAGGGGAGGGGGAAGTGAAGGGGTAGCAAAGGGAAAGAAA GGAAAGGGAAAAGGGAAGAGAGGGAGGGAGGGAGGGAGGAAGGAAGGACG GATGGACGGACAGGACGAAAAAAAGAGAGGGGAGGGGAAGAGAGGGGAGG GGAGGGAAGAGAAGAAAAAGGGAAGGGAGGAAGGAAGGGAGGGAGGGAGG GAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGAG	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0110 a0001c0001t0007g0110	1	242	0.0041	736	c.927 others(753): Show c.927+4533_927+4534insCTCTCCCTCCCTCCCTCCCTCCCTCCCT CCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTCCCTTCCCTTTTTCTTCT CTTCCCTCCCCTCCCCTCTCTTCCCCTCCCCTCTCTTTTTTTCGTCCTGT CCGTCCATCCGTCCTTCCTTCCTCCCTCCCTCCCTCCCTCTCTTCCCTTT TCCCTTTCCTTTCTTTCCCTTTGCTACCCCTTCACTTCCCCCTCCCCTTC CCTTCCCCTTCCTTTTCCTTCCCCTTCCCCTTCCCTTCCCCTCCCTTTCC CTTCCCCTCTCCTTTCCCTTACTTTTCCCTTCCCCTTCCCTTCCCCTTAC CCTTCCCTTTCCCTTCCCCTTCCCCTTCCCTTTCCCTTTCCTTCCCTTTC CCTTCCCTTCCCTTTCCCTTCCCCTTCCTTTCTTCCCTTTCCCTTCCCCT TCCCTTCCCTTCCTTTTCCCTTCCCCTTCCTTTTCCCATTCCCTTCCCTT CCCTTCCCCTTCCCTTCCCTTCCTTTTCCCCTTCCCTTCCCCTTCCCTTC CCCTTCCCTTCCTTTTCCCCTTCCCTTTCCCCCTTTCCTTCCCTTCCCTT CCCCTTCCCTTCCTTTTCCCCTTCCCTTCCCCTTCCCTTCCCTTTCCCTT CCCTTTCCTTCCCTTTCCCTTCCCTTTCCCTTCCCTTCCCCTTCCTTCCC TTCCCTTCCCTTTCCCTTCCCTTTCCCTTCCCTTCCCTTCCCTTCCCCTT CCTTCCCT	ARHGAP19	ENSG00000213390.11	transcript	ENST00000358531.9	protein_coding	6/11			chr10	TogoVar
ARHGAP19_chr10_97217179_97297637	97251789	G G	GAAGGGAA others(729): Show GAAGGGAAGGGGAAGGGAAGGGAAGGGAAGGGAAGGGGAAGGGAAAGGGA AGGGAAAGGGAAGGGAAGGGAAGGGAAGGGGAAGGGAAGGGAAAGGGAAG GGAAGGGAAGGGAAGGGAAGGAAAGGGAAGGGAAGGGGAAGGGAAGGGGA AAAGGAAGGGAAGGGGAAGGGAAGGGAAGGAAAGGGGAAAGGGAAGGGGA AAGGAAGGGAAGGGGAAGGGAAGGGGAAGGGAAGGGGAAAAGGAAGGGAA GGGAAGGGGAAGGGAAGGGAAGGGAATGGGAAAGGAAGGGGAAGGGAAAA GGAAGGGGAAGGGAAGGGGAAGGGAAAGGGAAGAAAGGAAGGGGAAGGGA AAGGGAAGGGAAGGGAAAGGGAAGGGAAAGGGAAAGGGAAGGGGAAGGGG AAGGGGAAGGGAAGGGAAGGGGAAGGGGAAGGGAAGGGGAAGGGAAAAGT AAGGGAAGGAGAGGGGAAGGGAAAGGGAGGGGAAGGGAAGGGGAAGGGGA AGGAAAGGAAGGGGAAGGGAAGGGGAGGGGGAAGTGAAGGGGTAGCAAAG GGAAAGAAAGGAAAGGGAAAAGGGAAGAGAGGGAGGGAGGGAGGGAGGAA GGAAGGACGGATGGACGGACAGGACGAAAAAAAGAGAGGGGAGGGGAAGA GAGGGGAGGGGAGGGAAGAGAAGAAAAAGGGAAGGAGGAGGAAGGGAGGG AGGGAGGGAGGGAGGGAGGGAGGGAGGGAGAGAGGGA	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0079 a0001c0003t0003g0079	1	242	0.0041	736	c.927 others(753): Show c.927+4528_927+4529insTCCCTCTCTCCCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTCCCTTCCTCCTCCTTCCCTTTTTCTTCTCTTCCCTCC CCTCCCCTCTCTTCCCCTCCCCTCTCTTTTTTTCGTCCTGTCCGTCCATC CGTCCTTCCTTCCTCCCTCCCTCCCTCCCTCTCTTCCCTTTTCCCTTTCC TTTCTTTCCCTTTGCTACCCCTTCACTTCCCCCTCCCCTTCCCTTCCCCT TCCTTTCCTTCCCCTTCCCCTTCCCTTCCCCTCCCTTTCCCTTCCCCTCT CCTTCCCTTACTTTTCCCTTCCCCTTCCCTTCCCCTTCCCCTTCCCTTCC CTTCCCCTTCCCCTTCCCCTTCCCTTTCCCTTTCCCTTCCCTTTCCCTTC CCTTCCCTTTCCCTTCCCCTTCCTTTCTTCCCTTTCCCTTCCCCTTCCCT TCCCCTTCCTTTTCCCTTCCCCTTCCTTTCCCATTCCCTTCCCTTCCCTT CCCCTTCCCTTCCCTTCCTTTTCCCCTTCCCTTCCCCTTCCCTTCCCCTT CCCTTCCTTTCCCCTTCCCTTTCCCCTTTCCTTCCCTTCCCTTCCCCTTC CCTTCCTTTTCCCCTTCCCTTCCCCTTCCCTTCCCTTTCCTTCCCTTCCC TTCCCTTCCCTTCCCTTTCCCTTCCCTTCCCCTTCCCTTCCCTTCCCTTC CCTTTCCCTTCCCTTTCCCTTCCCCTTCCCTTCCCTTCCCTTCCCTTCCC CTTCCCTT	ARHGAP19	ENSG00000213390.11	transcript	ENST00000358531.9	protein_coding	6/11			chr10	TogoVar
ARHGAP19_chr10_97217179_97297637	97251789	G G	GAAGGGAA others(729): Show GAAGGGAAGGGGAAGGGAAGGGAAGGGAAGGGGAAGGGAAAGGGAAGGGA AAGGGAAGGGAAAGGGAAGGGAAGGGGAAGGGAAGGGAAAGGGAAGGGAA AGGGAAGGGAAAGGGAAGGGAAAGGGAAGGGAAGGGGAAGGGAAGGGGAA AAGGAAGGGAAGGGGAAGGGAAGGGAAGGAAAGGGGAAAGGGAAGGGGAA AAGGAAGGGAAGGGGAAGGGAAGGGGAAGGGAAGGGGAAAAGGAAGGGAA GGGAAGGGGAAGGGAAGGGAAGGGAATGGGAAAAGGAAGGGGAAGGGAAA AGGAAGGGGAAGGGAAGGGGAAGGGAAAGGGAAGAAAGGAAGGGGAAGGG AAAGGGAAGGGAAGGGAAAGGGAAGGGAAAGGGAAAGGGAAGGGGAAGGG GAAGGGAAAGGGAAGGGGAAGGGGAAGGGAAGGGGAAGGGAAAAGTAAGG GAAAGGAGAGGGGAAGGGAAAGGGAGGGGAAGGGAAGGGGAAGGGGAAGG AAAAGGAAGGGGAAGGGAAGGGGAGGGGGAAGTGAAGGGGTAGCAAAGGG AAAGAAAGGAAAGGGAAAAGGGAAGAGAGGGAGGGAGGGAGGGAGGAAGG AAGGACGGATGGACGGACAGGACGAAAAAAAGAGAGGGGAGGGGAAGAGA GGGGAGGGGAGGGAAGAGAAGAAAAAGGGAAGGGAGGAAGGAAGGGAGGG AGGGAGGGAGGGAGGGAGGGAGGGAGGGAGAGAGGGA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0080 a0001c0003t0003g0080	1	242	0.0041	736	c.927 others(753): Show c.927+4528_927+4529insTCCCTCTCTCCCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTCCCTTCCTTCCTCCCTTCCCTTTTTCTTCTCTTCCCT CCCCTCCCCTCTCTTCCCCTCCCCTCTCTTTTTTTCGTCCTGTCCGTCCA TCCGTCCTTCCTTCCTCCCTCCCTCCCTCCCTCTCTTCCCTTTTCCCTTT CCTTTCTTTCCCTTTGCTACCCCTTCACTTCCCCCTCCCCTTCCCTTCCC CTTCCTTTTCCTTCCCCTTCCCCTTCCCTTCCCCTCCCTTTCCCTTCCCC TCTCCTTTCCCTTACTTTTCCCTTCCCCTTCCCTTCCCCTTCCCCTTCCC TTTCCCTTCCCCTTCCCCTTCCCTTTCCCTTTCCCTTCCCTTTCCCTTCC CTTCCCTTTCCCTTCCCCTTCCTTTCTTCCCTTTCCCTTCCCCTTCCCTT CCCCTTCCTTTTCCCTTCCCCTTCCTTTTCCCATTCCCTTCCCTTCCCTT CCCCTTCCCTTCCCTTCCTTTTCCCCTTCCCTTCCCCTTCCCTTCCCCTT CCCTTCCTTTTCCCCTTCCCTTTCCCCTTTCCTTCCCTTCCCTTCCCCTT CCCTTCCTTTTCCCCTTCCCTTCCCCTTCCCTTCCCTTTCCCTTCCCTTT CCCTTCCCTTTCCCTTCCCTTTCCCTTCCCTTCCCCTTCCCTTCCCTTTC CCTTCCCTTTCCCTTCCCTTTCCCTTCCCCTTCCCTTCCCTTCCCTTCCC CTTCCCTT	ARHGAP19	ENSG00000213390.11	transcript	ENST00000358531.9	protein_coding	6/11			chr10	TogoVar
ARHGAP19_chr10_97217179_97297637	97251789	G G	GAAGGGAA others(729): Show GAAGGGAAGGGGAAGGGAAGGGAAGGGAAGGGGAAGGGAAAGGGAAGGGA AAGGGAAGGGAAGGGGAAGGGAAGGGAAAGGGAAGGGAAAGGGAAGGGAA AGGGAAGGAAAGGGAAGGGAAAGGGAAGGGAAGGGGAAGGGAAGGGGAAA AGGAAGGGAAGGGGAAGGGAAGGGAAGGAAAGGGGAAAGGGAAGGGGAAA AGGAAGGGAAGGGGAAGGGAAGGGGAAGGGAAGGGGAAAAGGAAGGGAAG GGAAGGGGAAGGGAAGGGAATGGGAAAAGGAAGGGGAAGGGAAAAGGAAG GGGAAGGGAAGGGGAAGGGAAAGGGAAGAAAGGAAGGGGAAGGGAAAGGG AAGGGAAGGGAAAGGGAAGGGAAAGGGAAGGGAAAGGGAAAGGGAAGGGG AAGGGGAAGGGGAAGGGAAGGGGAAGGGGAAGGGAAGGGGAAGGGAAAAG TAAGGGAAAGGAGAGGGGAAGGGAAAGGGAGGGGAAGGGAAGGGGAAGGG GAAGGAAAGGAAGGGGAAGGGAAGGGGAGGGGGAAGTGAAGGGGTAGCAA AGGGAAAGAAAGGAAAGGGAAAAGGGAAGAGAGGGAGGGAGGGAGGGAGG AAGGAAGGACGGATGGACGGACAGGACGAAAAAAAGAGAGGGGAGGGGAA GAGAGGGGAGGGGAGGGAAGAGAAGAAAAAGGGAAGGGAGGAAGGAAGGG AGGGAGGGAGGGAGGGAGGGAGGGAGGGAGAGAGGGA	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	242	0.0041	736	c.927 others(753): Show c.927+4528_927+4529insTCCCTCTCTCCCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTTCCTTCCTCCCTTCCCTTTTTCTTCTCTTCCCTCCCC TCCCCTCTCTTCCCCTCCCCTCTCTTTTTTTCGTCCTGTCCGTCCATCCG TCCTTCCTTCCTCCCTCCCTCCCTCCCTCTCTTCCCTTTTCCCTTTCCTT TCTTTCCCTTTGCTACCCCTTCACTTCCCCCTCCCCTTCCCTTCCCCTTC CTTTCCTTCCCCTTCCCCTTCCCTTCCCCTCCCTTTCCCTTCCCCTCTCC TTTCCCTTACTTTTCCCTTCCCCTTCCCTTCCCCTTCCCCTTCCCTTCCC CTTCCCCTTCCCCTTCCCTTTCCCTTTCCCTTCCCTTTCCCTTCCCTTTC CCTTCCCTTCCCTTTCCCTTCCCCTTCCTTTCTTCCCTTTCCCTTCCCCT TCCCTTCCCCTTCCTTTTCCCTTCCCCTTCCTTTTCCCATTCCCTTCCCT TCCCCTTCCCTTCCCTTCCTTTTCCCCTTCCCTTCCCCTTCCCTTCCCCT TCCCTTCCTTTTCCCCTTCCCTTTCCCCTTTCCTTCCCTTCCCTTCCCCT TCCCTTCCTTTTCCCCTTCCCTTCCCCTTCCCTTCCCTTTCCCTTCCCTT TCCTTCCCTTTCCCTTCCCTTTCCCTTCCCTTTCCCTTCCCTTCCCCTTC CCTTCCCTTTCCCTTCCCTTTCCCTTCCCCTTCCCTTCCCTTCCCTTCCC CTTCCCTT	ARHGAP19	ENSG00000213390.11	transcript	ENST00000358531.9	protein_coding	6/11			chr10	TogoVar
ARHGAP19_chr10_97217179_97297637	97251789	G G	GAAGGGAA others(729): Show GAAGGGAAGGGGAAGGGAAGGGAAGGGAAGGGGAAGGGAAAGGGAAGGGA AAGGGAAGGGAAGGGGAAGGGAAGGGAAAGGGAAGGGAAAGGGAAGGGAA AGGGAAGGGAAAGGGAAGGGAAAGGGAAGGGAAGGGGAAGGGAAGGGAAA AGGAAGGGAAGGGGAAGGGAAGGGAAGGAAAGGGGAAAGGGAAGGGGAAA AGGAAGGGAAGGGGAAGGGAAGGGGAAGGGAAGGGGAAAAGGAAGGGAAG GGAAGGGGAAGGGAAGGGAATGGGAAAAGGAAGGGGAAGGGAAAAGGAAG GGAAGGGAAGGGGAAGGGAAAGGGAAGAAAGGAAGGGGAAGGGAAAGGGA AGGGAAGGGAAAGGGAAGGGAAAGGGAAGGGAAAGGGAAAGGGAAGGGGA AGGGAAGGGGAAGGGAAGGGGAAGGGGAAGGGAAGGGGAAGGAAAAGTAA GGGAAAGGAGAGGGGAAGGGAAAGGGAGGGGAAGGGAAGGGGAAGGGGAA GGAAAAGGAAGGGGAAGGGAAGGGGAGGGGGAAGTGAAGGGGTAGCAAAG GGAAAGAAAGGAAAGGGAAAAGGGAAAGAGAGGGAGGGAGGGAGGGAGGA AGGAAGGACGGATGGACGGACAGGACGAAAAAAAGAGAGGGGAGGGGAAG AGAGGGGAGGGGAGGGAAAGAGAAGAAAAAGGGAAGGGAGGAAGGAAGGG AGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGA	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	242	0.0041	736	c.927 others(753): Show c.927+4528_927+4529insTCCCTCCCTCCCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTTCCTTCCTCCCTTCCCTTTTTCTTCTCTTTCCCTCCC CTCCCCTCTCTTCCCCTCCCCTCTCTTTTTTTCGTCCTGTCCGTCCATCC GTCCTTCCTTCCTCCCTCCCTCCCTCCCTCTCTTTCCCTTTTCCCTTTCC TTTCTTTCCCTTTGCTACCCCTTCACTTCCCCCTCCCCTTCCCTTCCCCT TCCTTTTCCTTCCCCTTCCCCTTCCCTTCCCCTCCCTTTCCCTTCCCCTC TCCTTTCCCTTACTTTTCCTTCCCCTTCCCTTCCCCTTCCCCTTCCCTTC CCCTTCCCTTCCCCTTCCCTTTCCCTTTCCCTTCCCTTTCCCTTCCCTTT CCCTTCCCTTCCCTTTCCCTTCCCCTTCCTTTCTTCCCTTTCCCTTCCCC TTCCCTTCCCTTCCTTTTCCCTTCCCCTTCCTTTTCCCATTCCCTTCCCT TCCCCTTCCCTTCCCTTCCTTTTCCCCTTCCCTTCCCCTTCCCTTCCCCT TCCCTTCCTTTTCCCCTTCCCTTTCCCCTTTCCTTCCCTTCCCTTCCCCT TCCCTTCCTTTTCCCTTCCCTTCCCCTTCCCTTCCCTTTCCCTTCCCTTT CCCTTCCCTTTCCCTTCCCTTTCCCTTCCCTTTCCCTTCCCTTCCCCTTC CCTTCCCTTTCCCTTCCCTTTCCCTTCCCCTTCCCTTCCCTTCCCTTCCC CTTCCCTT	ARHGAP19	ENSG00000213390.11	transcript	ENST00000358531.9	protein_coding	6/11			chr10	TogoVar
ARHGAP19_chr10_97217179_97297637	97251789	G G	GAAGGGAA others(729): Show GAAGGGAAGGGGAAGGGAAGGGAAGGGAAGGGGAAGGGAAAGGGAAGGGA AAGGGAAGGGAAGGGGAAGGGAAGGGAAAGGGAAGGGAAAGGGAAGGGAA AGGGAAGGGAAAGGGAAGGGAAAGGGAAGGGAAGGGGAAGGGAAGGGGAA AAGGAAGGGAAGGGGAAGGGAAGGGAAGGAAAGGGGAAAGGGAAGGGAAA AGGAAGGGAAGGGGAAGGGAAGGGGAAGGGAAGGGGAAAAGGAAGGGAAG GGAAGGGGAAGGGAAGGGAATGGGAAAAGGAAGGGGAAGGGAAAAGGAAG GGGAAGGGAAGGGGAAGGGAAAGGGAAGAAAGGAAGGGGAAGGGAAAGGG AAGGGAAGGGAAAGGGAAGGGAAAGGGAAGGGAAAGGGAAAGGGAAGGGG AAGGGGAAGGGGAAGGGAAGGGGAAGGGGAAGGGAAGGGGAAGGGAAAAG TAAGGGAAAGGAGAGGGGAAGGGAAAGGGAGGGGAAGGGAAGGGGAAGGG GAAGGAAAAGGAAGGGGAAGGGAAGGGGAGGGGAAGTGAAGGGGTAGCAA AGGGAAAGAAAGGAAAGGGAAAAGGGAAGAGAGGGAGGGAGGGAGGGAGG AAGGAAGGACGGATGGACGGACAGGACGAAAAAAAGAGAGGGGAGGGGAA GAGAGGGGAGGGGAGGGAAGAGAAGAAAAAGGGAAGGGAGGAAGGAAGGG AGGGAGGGAGGGAGGGAGGGAGGGAGGGAGAGAGGGA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	242	0.0041	736	c.927 others(753): Show c.927+4528_927+4529insTCCCTCTCTCCCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTTCCTTCCTCCCTTCCCTTTTTCTTCTCTTCCCTCCCC TCCCCTCTCTTCCCCTCCCCTCTCTTTTTTTCGTCCTGTCCGTCCATCCG TCCTTCCTTCCTCCCTCCCTCCCTCCCTCTCTTCCCTTTTCCCTTTCCTT TCTTTCCCTTTGCTACCCCTTCACTTCCCCTCCCCTTCCCTTCCCCTTCC TTTTCCTTCCCCTTCCCCTTCCCTTCCCCTCCCTTTCCCTTCCCCTCTCC TTTCCCTTACTTTTCCCTTCCCCTTCCCTTCCCCTTCCCCTTCCCTTCCC CTTCCCCTTCCCCTTCCCTTTCCCTTTCCCTTCCCTTTCCCTTCCCTTTC CCTTCCCTTCCCTTTCCCTTCCCCTTCCTTTCTTCCCTTTCCCTTCCCCT TCCCTTCCCCTTCCTTTTCCCTTCCCCTTCCTTTTCCCATTCCCTTCCCT TCCCCTTCCCTTCCCTTCCTTTTCCCCTTCCCTTCCCCTTCCCTTCCCCT TCCCTTCCTTTTCCCTTCCCTTTCCCCTTTCCTTCCCTTCCCTTCCCCTT CCCTTCCTTTTCCCCTTCCCTTCCCCTTCCCTTCCCTTTCCCTTCCCTTT CCCTTCCCTTTCCCTTCCCTTTCCCTTCCCTTTCCCTTCCCTTCCCCTTC CCTTCCCTTTCCCTTCCCTTTCCCTTCCCCTTCCCTTCCCTTCCCTTCCC CTTCCCTT	ARHGAP19	ENSG00000213390.11	transcript	ENST00000358531.9	protein_coding	6/11			chr10	TogoVar
ARHGAP19_chr10_97217179_97297637	97251789	G G	GAAGGGAA others(729): Show GAAGGGAAGGGGAAGGGAAGGGAAGGGAAGGGGAAGGGAAAGGGAAGGGA AAGGGAAGGGAAGGGGAAGGGAAGGGAAAGGGAAGGGAAAGGGAAGGGAA AGGGAAGGGAAAGGGAAGGGAAAGGGAAGGGAAGGGGAAGGGAAGGGGAA AAGGAAGGGAAGGGGAAGGGAAGGGAAGGAAAGGGGAAAGGGAAGGGGAA AAGGAAGGGAAGGGGAAGGAAGGGGAAGGGAAGGGGAAAAGGAAGGGAAG GGAAGGGGAAGGGAAGGGAATGGGAAAAGGAAGGGGAAGGGAAAGGAAGG GGAAGGGAAGGGGAAGGGAAAGGGAAGAAAGGAAGGGGAAGGGAAAGGGA AGGGAAGGGAAAGGGAAGGGAAAGGGAAGGGAAAGGGAAAGGGAAGGGGA AGGGGAAGGGGAAGGGAAGGGGAAGGGGAAGGGAAGGGGAAGGGAAAGTA AGGGAAAGGAGAGGGGAAGGGAAAGGGAGGGGAAGGGAAGGGGAAGGGGA AGGAAAAGGAAGGGGAAGGGAAGGGGAGGGGGAAGTGAAGGGGTAGCAAA GGGAAAGAAAGGAAAGGGAAAAGGGAAGAGAGGGAGGGAGGGAGGGAGGA AGGAAGGACGGATGGACGGACAGGACGAAAAAAAGAGAGGGGAGGGGAAG AGAGGGGAGGGGAGGGAAGAGAAGAAAAAGGGAAGGGAGGAAGGAAGGGA GGGGAGGGAGGGAGGGAGGGAGGGAGGGAGAGAGGGA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	242	0.0041	736	c.927 others(753): Show c.927+4528_927+4529insTCCCTCTCTCCCTCCCTCCCTCCCTCCC TCCCTCCCCTCCCTTCCTTCCTCCCTTCCCTTTTTCTTCTCTTCCCTCCC CTCCCCTCTCTTCCCCTCCCCTCTCTTTTTTTCGTCCTGTCCGTCCATCC GTCCTTCCTTCCTCCCTCCCTCCCTCCCTCTCTTCCCTTTTCCCTTTCCT TTCTTTCCCTTTGCTACCCCTTCACTTCCCCCTCCCCTTCCCTTCCCCTT CCTTTTCCTTCCCCTTCCCCTTCCCTTCCCCTCCCTTTCCCTTCCCCTCT CCTTTCCCTTACTTTCCCTTCCCCTTCCCTTCCCCTTCCCCTTCCCTTCC CCTTCCCCTTCCCCTTCCCTTTCCCTTTCCCTTCCCTTTCCCTTCCCTTT CCCTTCCCTTCCCTTTCCCTTCCCCTTCCTTTCTTCCCTTTCCCTTCCCC TTCCCTTCCCCTTCCTTTCCCTTCCCCTTCCTTTTCCCATTCCCTTCCCT TCCCCTTCCCTTCCCTTCCTTTTCCCCTTCCCTTCCCCTTCCTTCCCCTT CCCTTCCTTTTCCCCTTCCCTTTCCCCTTTCCTTCCCTTCCCTTCCCCTT CCCTTCCTTTTCCCCTTCCCTTCCCCTTCCCTTCCCTTTCCCTTCCCTTT CCCTTCCCTTTCCCTTCCCTTTCCCTTCCCTTTCCCTTCCCTTCCCCTTC CCTTCCCTTTCCCTTCCCTTTCCCTTCCCCTTCCCTTCCCTTCCCTTCCC CTTCCCTT	ARHGAP19	ENSG00000213390.11	transcript	ENST00000358531.9	protein_coding	6/11			chr10	TogoVar
ARHGAP19_chr10_97217179_97297637	97251789	G G	GAAGGGAA others(729): Show GAAGGGAAGGGGAAGGGAAGGGAAGGGAAGGGGAAGGGAAAGGGAAGGGA AGGGGAAGGGAAGGGAAAGGGAAGGGAAAGGGAAGGGAAAGGGAAGGGAA AGGGAAGGGAAAGGGAAGGGAAGGGGAAGGGAAGGGGAAAAGGAAGGGAA GGGGAAGGGAAGGGAAGGAAAGGGGAAAGGGAAGGGGAAAAGGAAGGGAA GGGGAAGGGAAGGGGAAGGGAAGGGGAAAAGGAAGGGAAGGGAAGGGGAA GGGAAGGGAAGGGAATGGGAAAAGGAAGGGGAAGGGAAAAGGAAGGGGAA GGGAAGGGGAAGGGAAAGGGAAGAAAGGAAGGGGAAGGGAAAGGGAAGGG AAGGGAAAGGGAAGGGAAAGGAAAGGGAAAGGGAAAGGGAAGGGGAAGGG GAAGGGGAAGGGAAGGGGAAGGGGAAGGGAAGGGGAAGGGAAAAGTAAGG GAAAGGAGAGGGGAAGGGAAAGGGAGGGGAAGGGAAGGGGAAGGGGAAGG AAAAGGAAGGGGAAGGGAAGGGGAGGGGGAAGTGAAGGGGTAGCAAAGGG AAAGAAAGGAAAGGGAAAAGGGAAGAGAGGGAGGGAGGGAGGGAGGAAGG AAGGACGGATGGACGGACAGGACGAAAAAAAGAGAGGGGAGGGGAAGAGA GGGGAGGGGAGGGAAGAGAAGAAAAAGGGAAGGGAGGAAGGAAGGGAGGG AGGGAGGGAGGGAGGGAGGGAGGGAGGGAGAGAGGGA	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	242	0.0041	736	c.927 others(753): Show c.927+4528_927+4529insTCCCTCTCTCCCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTCCCTTCCTTCCTCCCTTCCCTTTTTCTTCTCTTCCCT CCCCTCCCCTCTCTTCCCCTCCCCTCTCTTTTTTTCGTCCTGTCCGTCCA TCCGTCCTTCCTTCCTCCCTCCCTCCCTCCCTCTCTTCCCTTTTCCCTTT CCTTTCTTTCCCTTTGCTACCCCTTCACTTCCCCCTCCCCTTCCCTTCCC CTTCCTTTTCCTTCCCCTTCCCCTTCCCTTCCCCTCCCTTTCCCTTCCCC TCTCCTTTCCCTTACTTTTCCCTTCCCCTTCCCTTCCCCTTCCCCTTCCC TTCCCCTTCCCCTTCCCCTTCCCTTTCCCTTTCCCTTTCCTTTCCCTTCC CTTTCCCTTCCCTTCCCTTTCCCTTCCCCTTCCTTTCTTCCCTTTCCCTT CCCCTTCCCTTCCCCTTCCTTTTCCCTTCCCCTTCCTTTTCCCATTCCCT TCCCTTCCCTTCCCCTTCCCTTCCCTTCCTTTTCCCCTTCCCTTCCCCTT CCCTTCCCCTTCCCTTCCTTTTCCCCTTCCCTTTCCCCTTTCCTTCCCTT CCCTTCCCCTTCCCTTCCTTTTCCCCTTCCCTTCCCCTTCCCTTCCCTTT CCCTTCCCTTTCCCTTCCCTTTCCCTTCCCTTTCCCTTCCCTTTCCCTTC CCTTCCCCTTCCCTTCCCTTTCCCTTCCCCTTCCCTTCCCTTCCCTTCCC CTTCCCTT	ARHGAP19	ENSG00000213390.11	transcript	ENST00000358531.9	protein_coding	6/11			chr10	TogoVar
ARHGAP19_chr10_97217179_97297637	97251789	G G	GAAGGGAA others(729): Show GAAGGGAAGGGGAAGGGAAGGGAAGGGAAGGGGAAGGGAAAGGGAAGGGA AGGGGAAGGGAAGGGAAAGGGAAGGGAAAGGGAAGGGAAAGGGAAGGGAA AGGGAAGGGAAAGGGAAGGGAAGGGGAAGGGAAGGGGAAAAGGAAGGGAA GGGGAAGGGAAGGGAAGGAAAGGGGGAAAGGGAAGGGGAAAAGGAAGGGA AGGGGAAGGGAAGGGGAAGGGAAGGGGAAAAGGAAGGGAAGGGAAGGGGA AGGGAAGGGAAGGGAAGGGAAAAGGAAGGGGAAGGGAAAAGGAAGGGGAA GGGAAGGGGAAGGGAAAGGGAAGAAAGGAAGGGGGAAGGGAAAGGGAAGG GAAGGGAAAGGGAAGGGAAGGAAAGGGAAAGGGAAAGGGAAGGGGAAGGG GAAGGGGAAGGGAAGGGGAAGGGGAAGGGAAGGGGAAGGGAAAAGTAAGG GAAAGGAGAGGGGAAGGGAAAGGGAGGGGAAGGAAGGGGAAGGGGAAGGA AAAGGAAGGGGAAGGGAAGGGGAGGGGGAAGTGAAGGGGTAGCAAAGGGA AAGAAAGGAAAGGGAAAAAGGGAAGAGAGGGAGGGAGGGAGGGAGGAAGG AAGGACGGATGGACGGACAGGACGAAAAAAAGAGAGGGGAGGGGAAGAGA GGGGAGGGGAGGGAAGAGAAGAAAAAGGGAAGGGAGGAAGGAAGGGAGGG AGGGAGGGAGGGAGGGAGGGAGGGAGGGAGAGAGGGA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0114 a0003c0005t0001g0114	1	242	0.0041	736	c.927 others(753): Show c.927+4528_927+4529insTCCCTCTCTCCCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTCCCTTCCTTCCTCCCTTCCCTTTTTCTTCTCTTCCCT CCCCTCCCCTCTCTTCCCCTCCCCTCTCTTTTTTTCGTCCTGTCCGTCCA TCCGTCCTTCCTTCCTCCCTCCCTCCCTCCCTCTCTTCCCTTTTTCCCTT TCCTTTCTTTCCCTTTGCTACCCCTTCACTTCCCCCTCCCCTTCCCTTCC CCTTCCTTTTCCTTCCCCTTCCCCTTCCTTCCCCTCCCTTTCCCTTCCCC TCTCCTTTCCCTTACTTTTCCCTTCCCCTTCCCTTCCCCTTCCCCTTCCC TTCCCCTTCCCCTTCCCCTTCCCTTTCCCTTTCCCTTTCCTTCCCTTCCC TTTCCCTTCCCTTCCCTTTCCCTTCCCCCTTCCTTTCTTCCCTTTCCCTT CCCCTTCCCTTCCCCTTCCTTTTCCCTTCCCCTTCCTTTTCCCTTCCCTT CCCTTCCCTTCCCCTTCCCTTCCCTTCCTTTTCCCCTTCCCTTCCCCTTC CCTTCCCCTTCCCTTCCTTTTCCCCTTCCCTTTCCCCCTTTCCTTCCCTT CCCTTCCCCTTCCCTTCCTTTTCCCCTTCCCTTCCCCTTCCCTTCCCTTT CCCTTCCCTTTCCCTTCCCTTTCCCTTCCCTTTCCCTTCCCTTTCCCTTC CCTTCCCCTTCCCTTCCCTTTCCCTTCCCCTTCCCTTCCCTTCCCTTCCC CTTCCCTT	ARHGAP19	ENSG00000213390.11	transcript	ENST00000358531.9	protein_coding	6/11			chr10	TogoVar
ARHGEF16_chr1_3449665_3486113	3477303	G G	GTCACCCC others(729): Show GTCACCCCCACACTACCCACCCCCATCACCCCACAACCCACCCCCATCAC CCCCACACTACCCACCCCCATCACCCCACACTACCCACCCCCATCACCCC ACACTACCCACCCCATCACCCCCACACTACCCACCCCCATCACCCCACAC TACCCACCCCCATCACCCTCACTACCCACCCCATCACCCGCACACTACCC ACCCCATCACCCCCACACTACCCACCCCATCACCCCACACTACCCACCCC ATCACCCCCACACTACCCACCCCCATCACCCCCACACTACCCACCCCCAT CACCCCCACACTACCCACCCCATCACCCCCACACTACCCACCCCCATCAC CCCCACACTACCCACCCCATCACCCCCACACTACCCACCCCATCACCCCC ACACTACCCACCCCCATCACCCCCACACTACCCACCCCCATCACCCCCAC ACTACCCACCCCATCACCCTCACTACCCACCCCATCACCCGCACACTACC CAGGCCCATCACCCCGCTACCCACCCCATCACCCCCACGCCACCCACCCC ATCACCCCCACACCGCCCACCCCATCACCCCCACGCCGCCCACCCCCATC ACCCCCACGCCGCCCACCCCATCACCCCCACGCCGCCCACCCCCATCACC CCCACGCCGCCCACCCCATCACCCCCACGCCGCCCACCCCATCACCCCCA CGCCGCCCACCCCATCACCCCCACGCCGCCCACCCCA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02258.hp2 HG02451.hp1 others(4): Show HG01123.hp2 HG02258.hp2 HG02451.hp1 HG03225.hp2 NA18906.hp2 NA19240.hp1 NA20300.hp2	a0002 a0012 a0002 a0012	a0002c0003 a0002c0022 a0012c0031 a0002c0003 a0002c0022 a0012c0031	a0002c0003t0002 a0002c0022t0002 a0012c0031t0002 a0002c0003t0002 a0002c0022t0002 a0012c0031t0002	a0002c0003t0002g0018 a0002c0003t0002g0297 a0002c0003t0002g0299 others(2): Show a0002c0003t0002g0018 a0002c0003t0002g0297 a0002c0003t0002g0299 a0002c0022t0002g0008 a0012c0031t0002g0298	7	334	0.0210	736	c.147 others(753): Show c.1474-550_1474-549insCATCACCCCACAACCCACCCCCATCACC CCCACACTACCCACCCCCATCACCCCACACTACCCACCCCCATCACCCCA CACTACCCACCCCATCACCCCCACACTACCCACCCCCATCACCCCACACT ACCCACCCCCATCACCCTCACTACCCACCCCATCACCCGCACACTACCCA CCCCATCACCCCCACACTACCCACCCCATCACCCCACACTACCCACCCCA TCACCCCCACACTACCCACCCCCATCACCCCCACACTACCCACCCCCATC ACCCCCACACTACCCACCCCATCACCCCCACACTACCCACCCCCATCACC CCCACACTACCCACCCCATCACCCCCACACTACCCACCCCATCACCCCCA CACTACCCACCCCCATCACCCCCACACTACCCACCCCCATCACCCCCACA CTACCCACCCCATCACCCTCACTACCCACCCCATCACCCGCACACTACCC AGGCCCATCACCCCGCTACCCACCCCATCACCCCCACGCCACCCACCCCA TCACCCCCACACCGCCCACCCCATCACCCCCACGCCGCCCACCCCCATCA CCCCCACGCCGCCCACCCCATCACCCCCACGCCGCCCACCCCCATCACCC CCACGCCGCCCACCCCATCACCCCCACGCCGCCCACCCCATCACCCCCAC GCCGCCCACCCCATCACCCCCACGCCGCCCACCCCATCACCCCCACACTA CCCACCCC	ARHGEF16	ENSG00000130762.15	transcript	ENST00000378378.9	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
ARHGEF16_chr1_3449665_3486113	3477303	G G	GTCACCCC others(729): Show GTCACCCCCACACTACCCACCCCCATCACCCCACAACCCACCCCCATCAC CCCCACACTACCCACCCCCATCACCCCACACTACCCACCCCCATCACCCC ACACTACCCACCCCATCACCCCCACACTACCCACCCCCATCACCCCACAC TACCCACCCCCATCACCCTCACTACCCACCCCATCACCCGCACACTACCC ACCCCATCACCCCCACACTACCCACCCCATCACCCCACACTACCCACCCC ATCACCCCCACACTACCCACCCCCATCACCCCCACACTACCCACCCCCAT CACCCCCACACTACCCACCCCATCACCCCCACACTACCCACCCCCATCAC CCCCACACTACCCACCCCATCACCCCCACACTACCCACCCCATCACCCCC ACACTACCCACCCCCATCACCCCCACACTACCCACCCCCATCACCCCCAC ACTACCCACCCCATCACCCTCACTACCCACCCCATCACCCGCACACTACC CAGGCCCATCACCCCGCTACCCACCCCATCACCCCCACGCCACCCACCCC ATCACCCCCACACCGCCCACCCCATCACCCCCACGCCGCCCACCCCCATC AGCCCCACGCCGCCCACCCCATCACCCCCACGCCGCCCACCCCCATCACC CCCACGCCGCCCACCCCATCACCCCCACGCCGCCCACCCCATCACCCCCA CGCCGCCCACCCCATCACCCCCACGCCGCCCACCCCA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03195.hp2 HG03516.hp2 HG01884.hp2 HG03195.hp2 HG03516.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0004 a0002c0003t0002g0004	3	334	0.0090	736	c.147 others(753): Show c.1474-550_1474-549insCATCACCCCACAACCCACCCCCATCACC CCCACACTACCCACCCCCATCACCCCACACTACCCACCCCCATCACCCCA CACTACCCACCCCATCACCCCCACACTACCCACCCCCATCACCCCACACT ACCCACCCCCATCACCCTCACTACCCACCCCATCACCCGCACACTACCCA CCCCATCACCCCCACACTACCCACCCCATCACCCCACACTACCCACCCCA TCACCCCCACACTACCCACCCCCATCACCCCCACACTACCCACCCCCATC ACCCCCACACTACCCACCCCATCACCCCCACACTACCCACCCCCATCACC CCCACACTACCCACCCCATCACCCCCACACTACCCACCCCATCACCCCCA CACTACCCACCCCCATCACCCCCACACTACCCACCCCCATCACCCCCACA CTACCCACCCCATCACCCTCACTACCCACCCCATCACCCGCACACTACCC AGGCCCATCACCCCGCTACCCACCCCATCACCCCCACGCCACCCACCCCA TCACCCCCACACCGCCCACCCCATCACCCCCACGCCGCCCACCCCCATCA GCCCCACGCCGCCCACCCCATCACCCCCACGCCGCCCACCCCCATCACCC CCACGCCGCCCACCCCATCACCCCCACGCCGCCCACCCCATCACCCCCAC GCCGCCCACCCCATCACCCCCACGCCGCCCACCCCATCACCCCCACACTA CCCACCCC	ARHGEF16	ENSG00000130762.15	transcript	ENST00000378378.9	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
ARHGEF16_chr1_3449665_3486113	3477303	G G	GTCACCCC others(729): Show GTCACCCCCACACTACCCACCCCCATCACCCCACAACCCACCCCCATCAC CCCCACACTACCCACCCCCATCACCCCACACTACCCACCCCCATCACCCC ACACTACCCACCCCATCACCCCCACACTACCCACCCCCATCACCCCACAC TACCCACCCCCATCACCCTCACTACCCACCCCATCACCCGCACACTACCC ACCCCATCACCCCCACACTACCCACCCCATCACCCCACACTACCCACCCC ATCACCCCCACACTACCCACCCCCATCACCCCCACACTACCCACCCCCAT CACCCCCACACTACCCACCCCATCACCCCCACACTACCCACCCCCATCAC CCCCACACTACCCACCCCATCACCCCCACACTACCCACCCCATCACCCCC ACACTACCCACCCCCATCACCCCCACACTACCCACCCCCATCACCCCCAC ACTACCCACCCCATCACCCTCACTACCCACCCCATCACCCGCACACTACC CAGGCCCATCACCCCGCTACCCACCCCATCACCCCCACGCCACCCACCCC ATCACCCCCACGCCGCCCACCCCATCACCCCCACGCCGCCCACCCCCATC ACCCCCACGCCGCCCACCCCATCACCCCCACGCCGCCCACCCCCATCACC CCCACGCCGCCCACCCCATCACCCCCACGCCGCCCACCCCATCACCCCCA CGCCGCCCACCCCATCACCCCCACGCCGCCCACCCCA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02818.hp2 HG03471.hp1 HG01243.hp1 HG02818.hp2 HG03471.hp1	a0002 a0013 a0002 a0013	a0002c0003 a0013c0032 a0002c0003 a0013c0032	a0002c0003t0002 a0013c0032t0002 a0002c0003t0002 a0013c0032t0002	a0002c0003t0002g0017 a0002c0003t0002g0295 a0013c0032t0002g0017 a0002c0003t0002g0017 a0002c0003t0002g0295 a0013c0032t0002g0017	3	334	0.0090	736	c.147 others(753): Show c.1474-550_1474-549insCATCACCCCACAACCCACCCCCATCACC CCCACACTACCCACCCCCATCACCCCACACTACCCACCCCCATCACCCCA CACTACCCACCCCATCACCCCCACACTACCCACCCCCATCACCCCACACT ACCCACCCCCATCACCCTCACTACCCACCCCATCACCCGCACACTACCCA CCCCATCACCCCCACACTACCCACCCCATCACCCCACACTACCCACCCCA TCACCCCCACACTACCCACCCCCATCACCCCCACACTACCCACCCCCATC ACCCCCACACTACCCACCCCATCACCCCCACACTACCCACCCCCATCACC CCCACACTACCCACCCCATCACCCCCACACTACCCACCCCATCACCCCCA CACTACCCACCCCCATCACCCCCACACTACCCACCCCCATCACCCCCACA CTACCCACCCCATCACCCTCACTACCCACCCCATCACCCGCACACTACCC AGGCCCATCACCCCGCTACCCACCCCATCACCCCCACGCCACCCACCCCA TCACCCCCACGCCGCCCACCCCATCACCCCCACGCCGCCCACCCCCATCA CCCCCACGCCGCCCACCCCATCACCCCCACGCCGCCCACCCCCATCACCC CCACGCCGCCCACCCCATCACCCCCACGCCGCCCACCCCATCACCCCCAC GCCGCCCACCCCATCACCCCCACGCCGCCCACCCCATCACCCCCACACTA CCCACCCC	ARHGEF16	ENSG00000130762.15	transcript	ENST00000378378.9	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
AUH_chr9_91208823_91366918	91296197	C C	CTTTTTTT others(729): Show CTTTTTTTTTTTTTTTTTTTTTTTTAGGGGGTTTTATTTTTTATTTATTT TTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGG TTAGTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAAT GTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCCTCC CCCGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCA TGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTT GGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCA TCCATGTCCCTACAAAGGACATGAACTCATCATTTTTTATGGCTGCATAG TATTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGT TGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAA TAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTT GGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTC TAGATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTT TACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCGCATCCTCTC CAGCACCTGTTGTTTCCTGACTTTTTAATGATTGCCA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0340 a0001c0001t0001g0340	1	358	0.0028	736	c.599 others(751): Show c.599-121_599-120insTGGCAATCATTAAAAAGTCAGGAAACAACA GGTGCTGGAGAGGATGCGGAGAAATAGGAACACTTTTACACTGTTGGTGG GACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAG GGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTA TATACCCAAATGAGTATAAATCATGCTGCTATAAAGACACATGCACACGT ATGTTTATTGCGGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAA ATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCA TGGAATACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGG ACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACA AAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGA GATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGG GGTCGGGGGAGGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAG ATGACACATTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATG TAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATA AAAAAAAAAATAAATAAAAAATAAAACCCCCTAAAAAAAAAAAAAAAAAA AAAAAA	AUH	ENSG00000148090.12	transcript	ENST00000375731.9	protein_coding	5/9			chr9	TogoVar
AUH_chr9_91208823_91366918	91296197	C C	CTTTTTTT others(729): Show CTTTTTTTTTTTTTTTTTTTTTTTTTAGGGGGTTTTATTTTTTATTTATT TTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAG GTTAGTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAA TGTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCC CCCGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCA TGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTT GGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCA TCCATGTCCCTACAAAGGACATGAACTCATCATTTTTTATGGCTGCATAG TATTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGT TGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAA TAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTT GGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTC TAGATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTT TACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCGCATCCTCTC CAGCACCTGTTGTTTCCTGACTTTTTAATGATTGCCA	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	358	0.0028	736	c.599 others(751): Show c.599-121_599-120insTGGCAATCATTAAAAAGTCAGGAAACAACA GGTGCTGGAGAGGATGCGGAGAAATAGGAACACTTTTACACTGTTGGTGG GACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAG GGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTA TATACCCAAATGAGTATAAATCATGCTGCTATAAAGACACATGCACACGT ATGTTTATTGCGGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAA ATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCA TGGAATACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGG ACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACA AAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGA GATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGG GGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGA TGACACATTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATGT AACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAA AAAAAAAAATAAATAAAAAATAAAACCCCCTAAAAAAAAAAAAAAAAAAA AAAAAA	AUH	ENSG00000148090.12	transcript	ENST00000375731.9	protein_coding	5/9			chr9	TogoVar
BRSK2_chr11_1384934_1467689	1423667	A A	AGCCTCCC others(729): Show AGCCTCCCCCGCTGGGCATTCCGGGTGCCCCAAGCCTCCCCCGCTGGGCG TTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCC TCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCC GGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCC CCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGT GCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGC TGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCC CAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGG CGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGG CCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTT CCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTC CCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGG GTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCC GCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGC CCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAG	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01993.hp2 HG01069.hp1 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0180 a0001c0001t0004g0185 a0001c0001t0004g0180 a0001c0001t0004g0185	2	360	0.0056	736	c.92- others(753): Show c.92-12357_92-12356insATTCCGGGTGCCCCAAGCCTCCCCCGCT GGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCC AGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGC GTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGC CTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTC CGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCC CCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGG TGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCG CTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCC CCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGG GCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAG GCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGT TCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCT CCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCG GGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCC CGCTGGGC	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1423667	A A	AGCCTCCC others(729): Show AGCCTCCCCCGCTGGGCATTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCG TTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCC TCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCC GGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCC CCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGT GCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGC TGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCC CAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGG CGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGG CCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTT CCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTC CCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGG GTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCC GCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGC CCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	360	0.0028	736	c.92- others(753): Show c.92-12357_92-12356insATTCCGGGTGCCCCAGGCCTCCCCCGCT GGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCC AGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGC GTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGC CTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTC CGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCC CCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGG TGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCG CTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCC CCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGG GCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAG GCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGT TCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCT CCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCG GGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCC CGCTGGGC	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
C17orf67_chr17_56786913_56838920	56792730	A A	ATGATGGT others(729): Show ATGATGGTGATGATGGGGGTGATGGTGATGGTGGTGAGAGTGGTGGTGGG GGTGGTAGTGGTGGAGATGGAGGTAGTGGTGATGGTGACGATGGTAGTGA TGGTGGTGGTGGTGGTGGTGGTGGTGGTGACAGTGATGATGATGGTGAGA GTGGTGGTGGTGGTGGTCATGGTGGTGGTGGTGGTGATGGTAATGATGGG GGTGACGGTGGTGGTGATGATGGTGGTGATGGTGGTGGTGATGGTGGTGG TGGTGGTGGTGATGATGGTGGTGATGGTGGTGATAGTGATGATGGTGGTG ATGGTGGTGGTGATGGTGGTGGTGATGGTGATGATGGTGGTGATGGTGGT GGTGGTGATGGTGGTGACGGTGATGGTGGTGATGGTGGTGGTGATGGTGA TGGTGGTGGTGGTGGTGGTGGTGATGGTGATGATGGTGGTGATGGTGGTG GTGATGGTGATGATGGTGGTGATGGTGGTGGTGATGGTGATGATGGTGGT GATGGTGGTGATGGTGATGGTGATGGTGGCGGTGATGGTGGTGATGGTGG TGGTGGTGATGGTGATGATGGTGGTGATGGTGGTGATGGTGGTGGTGATG GTGATGATGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGT GGTGATGGTGATGGTGGTGATGGTGGTGGTGATGGTGGTGGTGATGGTGA TGATGGTGGTGATGGTGATGATGGTGGTGATGGTGAT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0074 a0002c0002t0002g0074	1	292	0.0034	736	c.21 others(751): Show c.21-379_*21-378insATCACCATCACCACCATCATCACCATCACC ACCATCATCACCATCACCACCACCATCACCACCACCATCACCACCATCAC CATCACCACCACCACCACCATCACCACCACCACCATCACCACCACCACCA TCATCACCATCACCACCACCATCACCACCATCACCACCATCATCACCATC ACCACCACCACCATCACCACCATCACCGCCACCATCACCATCACCATCAC CACCATCACCACCATCATCACCATCACCACCACCATCACCACCATCATCA CCATCACCACCACCATCACCACCATCATCACCATCACCACCACCACCACC ACCACCATCACCATCACCACCACCATCACCACCATCACCGTCACCACCAT CACCACCACCACCATCACCACCATCATCACCATCACCACCACCATCACCA CCACCATCACCACCATCATCACTATCACCACCATCACCACCATCATCACC ACCACCACCACCACCATCACCACCACCATCACCACCATCATCACCACCAC CGTCACCCCCATCATTACCATCACCACCACCACCACCATGACCACCACCA CCACCACTCTCACCATCATCATCACTGTCACCACCACCACCACCACCACC ACCACCATCACTACCATCGTCACCATCACCACTACCTCCATCTCCACCAC TACCACCCCCACCACCACTCTCACCACCATCACCATCACCCCCATCATCA CCATCA	C17orf67	ENSG00000214226.9	transcript	ENST00000397861.7	protein_coding	7/7			chr17	TogoVar
CACNA1H_chr16_1148106_1226768	1185658	A A	ATAGGGGC others(729): Show ATAGGGGCCGGAGGCGTGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGG CGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCG GAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCGTGCGTAGGGGCCG GAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCATAGGG GCCGAAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCA GAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGG GCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCATAGGG GCCGGAGGCGGGGTGCGTATGGGGCGGGTGAGTAGACGGTCGGCGTGCGT AGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGG GCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCG GAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTGCGTAGGGGCCG GAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCG GAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGG CGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGG CGGGGTACGTGGGGGGCGGGTGAGTAGACGGCATGTG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0088 a0001c0088	a0001c0088t0001 a0001c0088t0001	a0001c0088t0001g0016 a0001c0088t0001g0016	1	338	0.0030	736	c.300 others(753): Show c.300-9299_300-9298insTGGTGTGTACGGGGCGGGTGAGTAGACG GTCGGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAG GGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCGTGCGTAG GGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGC ATAGGGGCCGAAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAG GGGCCAGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGC GTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGC ATAGGGGCCGGAGGCGGGGTGCGTATGGGGCGGGTGAGTAGACGGTCGGC GTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGC GTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAG GGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTGCGTAG GGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAG GGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGC CGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGC CGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCATGTGTAGGGGC CGGAGGCG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAMTA1_chr1_6780454_7774706	6940912	A A	AGGGGGTC others(729): Show AGGGGGTCCTCACAGGGAGGGGGGTCCTCAGAGGGAGAGGGATCCTCCCG GGGAAGGGGGATCCTCACGGGGAAGGGCATCCTCAGGGGGAAGGGGGATC CTCATGGGGAGGGGGATCCTCAGGGGGAGGGGAGATCCTCATGAGGAGGG GGGATCCTCACGGGGAGGGGGGGATCCTCCTCACAGGGAGGTGGATCCTC ACGGGGAAGGGATCCTCAGGGGGAAGGGGGATCCTCAGGGGGAGGGGGAT CCTCAGGGGGAGGGGGATCCTCAGGGGAAGGGGGATCCTCACGGGGAAGG GCATCCTCATGGGGAGGGGGATCCTCAGGGGGAGGGGAGATCCTCATGAG GAGGGGGGATCCTCACGGGGAGGGGGGGATCCTCCTCACAGGGAGGTGGA TCCTCACGGGGAAGGGATCCTCAGGGGGAGGGGGATCCTCACAGGGAGGG GATCCTCGGGAAGGTGGATCCTCACGGGGAGGAGGATCCTCACGGGGAGG GGGATCCTCAGGGGGAGGGGGATCCTCAGGGGGAGGGGATCCTCAGGGGG AGGGGGATCCTCCTCAGGGGGAGGGGGGATCCTCACGGGGAGGGGGATCC TCACGGGGAGGGGATCCTCAGGGGGAGGTGGATCCTCACGGGGAGGGGAT CCTCATGGGGAGGGGGGATCCTCAGAGGGAGGGGGGATCCTTGGGGGGAG GGGGATCCTCACAGGGTGGGGGGATCCTCACAGGGAG	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0023 a0001c0003t0023	a0001c0003t0023g0045 a0001c0003t0023g0045	1	58	0.0172	736	c.234 others(757): Show c.234+115706_234+115707insGTCCTCACAGGGAGGGGGGTCCTC AGAGGGAGAGGGATCCTCCCGGGGAAGGGGGATCCTCACGGGGAAGGGCA TCCTCAGGGGGAAGGGGGATCCTCATGGGGAGGGGGATCCTCAGGGGGAG GGGAGATCCTCATGAGGAGGGGGGATCCTCACGGGGAGGGGGGGATCCTC CTCACAGGGAGGTGGATCCTCACGGGGAAGGGATCCTCAGGGGGAAGGGG GATCCTCAGGGGGAGGGGGATCCTCAGGGGGAGGGGGATCCTCAGGGGAA GGGGGATCCTCACGGGGAAGGGCATCCTCATGGGGAGGGGGATCCTCAGG GGGAGGGGAGATCCTCATGAGGAGGGGGGATCCTCACGGGGAGGGGGGGA TCCTCCTCACAGGGAGGTGGATCCTCACGGGGAAGGGATCCTCAGGGGGA GGGGGATCCTCACAGGGAGGGGATCCTCGGGAAGGTGGATCCTCACGGGG AGGAGGATCCTCACGGGGAGGGGGATCCTCAGGGGGAGGGGGATCCTCAG GGGGAGGGGATCCTCAGGGGGAGGGGGATCCTCCTCAGGGGGAGGGGGGA TCCTCACGGGGAGGGGGATCCTCACGGGGAGGGGATCCTCAGGGGGAGGT GGATCCTCACGGGGAGGGGATCCTCATGGGGAGGGGGGATCCTCAGAGGG AGGGGGGATCCTTGGGGGGAGGGGGATCCTCACAGGGTGGGGGGATCCTC ACAGGGAGGGGG	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CDON_chr11_125951821_126067866	126065033	T T	TATAGTAT others(729): Show TATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGT ATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTAT TAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTA AGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAG AGGTGGTAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAG GTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGT GATAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGG TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGT ATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTAT TAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTA AGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAG AGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0020 a0002c0003t0001g0020	1	334	0.0030	736	c.-25 others(747): Show c.-2517_-2516insCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTC TTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTT AATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAA TACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATA CTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACT ATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTAT CACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTACCA CCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACC TCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTC TTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTT AATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAA TACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATA CTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACT AT	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		2168		chr11	TogoVar
CDON_chr11_125951821_126067866	126065033	T T	TATAGTAT others(729): Show TATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGT ATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTAT TAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTA AGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAG AGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAG GTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGATAGTATTAAGAGGT GATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGT ATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTAT TAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTA AGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAG AGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	334	0.0030	736	c.-25 others(747): Show c.-2517_-2516insCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTC TTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTT AATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAA TACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATA CTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACT ATCACCTCTTAATACTATCACCTCTTAATACTACCACCTCTTAATACTAC CACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCA CCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACC TCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTC TTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTT AATACTACCACCTCTTAATACTACCACCTCTTAATACTATCACCTCTTAA TACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATA CTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACT AT	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		2168		chr11	TogoVar
CELF2_chr10_11012872_11341675	11284413	C C	CTGTGGTG others(729): Show CTGTGGTGGGTGGATGATGGATGAGTGTGTGGTGGGTGGATGAGGGATGA GTGCGTGGTGGGTGGATGAGGGATGAGTGTGTGGTGGGGGATGAGGGATG AGTGTGTGGTGGGTGGATGAGGGATGAGTGTGTGGTGGGTGGATGATGGA TGGAGGGGTGGGTGGACGATGGATGAGTGTGTGGTAGGTGGACGATGGAT GAGTGTGTGGTGGGTGGATGAGGGATGAGTGTGTGGTGGGTGGATGATGG ATAAGTGTCTGGTGAGTGGATGAGGGATGAGTGTGTGGTGGGTGGATGAT GGATGGAGGGGTGGGTGGATGATGGATGACTGTGTGGTAGGTGGATGATG GATGAGTGTGTGGTGGGTGGATGAGGGATGAGTGGTGGGTGGATGACGGA TGAGTGTGTGGTGAGTGGATGAGGGATGAGTGTGTGGTGGGTGGATGATG GATGAGTGTGTGGTGAGTGGATGAGGGATGAGTGTGTGGTGGGTGGATGA TGGATGGAGGAGTGGGTGGATGATGGATGACTGTGTGGTAGGTGGATGAT GGATGAGTGCGTGGTGGGTGGATGAGGGATGAGTGCGTGGTGGGTGGATG AGGGATGAGTGCGTGGTGGGTGGGTGAGGGATGAGTGTGTGGTGGGTGGA TGAGGGATGAGTGTGTGGTGGGTGGATGAGGGATGAGTGTGGTGGGTGGA TGAGGGATGAGTGTGTGGTGGGTGGATGAGGGATGAG	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0023 a0001c0003t0023	a0001c0003t0023g0155 a0001c0003t0023g0155	1	194	0.0052	736	c.842 others(753): Show c.842-4001_842-4000insGTGGGTGGATGATGGATGAGTGTGTGGT GGGTGGATGAGGGATGAGTGCGTGGTGGGTGGATGAGGGATGAGTGTGTG GTGGGGGATGAGGGATGAGTGTGTGGTGGGTGGATGAGGGATGAGTGTGT GGTGGGTGGATGATGGATGGAGGGGTGGGTGGACGATGGATGAGTGTGTG GTAGGTGGACGATGGATGAGTGTGTGGTGGGTGGATGAGGGATGAGTGTG TGGTGGGTGGATGATGGATAAGTGTCTGGTGAGTGGATGAGGGATGAGTG TGTGGTGGGTGGATGATGGATGGAGGGGTGGGTGGATGATGGATGACTGT GTGGTAGGTGGATGATGGATGAGTGTGTGGTGGGTGGATGAGGGATGAGT GGTGGGTGGATGACGGATGAGTGTGTGGTGAGTGGATGAGGGATGAGTGT GTGGTGGGTGGATGATGGATGAGTGTGTGGTGAGTGGATGAGGGATGAGT GTGTGGTGGGTGGATGATGGATGGAGGAGTGGGTGGATGATGGATGACTG TGTGGTAGGTGGATGATGGATGAGTGCGTGGTGGGTGGATGAGGGATGAG TGCGTGGTGGGTGGATGAGGGATGAGTGCGTGGTGGGTGGGTGAGGGATG AGTGTGTGGTGGGTGGATGAGGGATGAGTGTGTGGTGGGTGGATGAGGGA TGAGTGTGGTGGGTGGATGAGGGATGAGTGTGTGGTGGGTGGATGAGGGA TGAGTGTG	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CFAP61_chr20_20047532_20365698	20357810	T T	TACTGAGG others(729): Show TACTGAGGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGG GAGGTGGTCACAGTGTGCGGGGAGGTGGTCATACTGAGGGGAGGTGGTCA CACTGTGAGGGGAGGTGGTCACACTGAGGAGAGGTGGTCACACTGTGAGG GGAGGTGGTCACACTGAGGAGAGGTGGTCATAGTGTGAGGGGAGGTGGTC ACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGG GAGGTGGTCACACTGAGGAGAGGTGGTCATAGTGTGAGGGGAGGTGGTCA CACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGG AGGTGGTGACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATAG TGTGAGGGGAGGTGGTCACACTGTGAGGGGAGGTGGTCACATTGAGGAGA GGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACA CTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGAGAG GTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAC TGAGGGGAGGTGGTCACACTGAGGAGAGGTGGTCACAGTGTGAGGGGAGG TGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATAGT GTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCAC	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0109 a0002c0002t0001g0109	1	236	0.0042	736	c.351 others(755): Show c.3514-2391_3514-2390insGAGGTGGTCACAGTGTGAGGGGAGGT GGTCACACTGAGGGGAGGTGGTCACAGTGTGCGGGGAGGTGGTCATACTG AGGGGAGGTGGTCACACTGTGAGGGGAGGTGGTCACACTGAGGAGAGGTG GTCACACTGTGAGGGGAGGTGGTCACACTGAGGAGAGGTGGTCATAGTGT GAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGG TCATAGTGTGAGGGGAGGTGGTCACACTGAGGAGAGGTGGTCATAGTGTG AGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGT CATAGTGTGAGGGGAGGTGGTGACACTGAGGGGAGGTGGTCACACTGAGG GGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGTGAGGGGAGGTGG TCACATTGAGGAGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAG GGGAGGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGT CACACTGAGGAGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGG GGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGAGAGGTGGTCAC AGTGTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGG GAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCA CACTGAGGGG	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CHRNA4_chr20_63338223_63366349	63361431	G G	GGGAGGGG others(729): Show GGGAGGGGGGAGGAGGGGGAGCAGGGGGGGGAGGAGGGGGAGCTGGGGAG GGGGGAGGAGGGGAGCAGGGGAGGGGGGAGGAGGGGAGCAGGGGAGGGGG GAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGGA GGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGGAGG AGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCTGGGGGGGAGGAGGGGG AGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGAGC TGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGAGGAGGGGGAGCTGG GGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGAGGAGGGGGAGCTGGGGA GGGGGGAGGAGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGG GGGAGGAGGGGGAGCTGGGGAGGGGAGGAGGGGGAGCTGGGGAGGGGAGG AGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGG GGGAGGAGGGAGAGCAGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGG AGGAGGGGGAGCTGGGGAGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGG AGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGAGGAGG GGGAGCAGTGGAGGGGGGAGAAGAGGAGGGGGGAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	168	0.0060	736	c.-26 others(745): Show c.-267_-266insTCCTCCCCCCTCCTCTTCTCCCCCCTCCACTGCTCC CCCTCCTCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCC TCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCTCCCCAGCTCCCCCTCC TCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCTGCTCTCCCTCCTCC CCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCC TCCTCCCCTCCCCAGCTCCCCCTCCTCCCCTCCCCAGCTCCCCCTCCTCC CCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCTCCTCCCCC CTCCCCAGCTCCCCCTCCTCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTC CCCAGCTCCCCCTCCTCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCC AGCTCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGC TCCCCCTCCTCCCCCCCAGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCC TCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTC CTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCT CCCCCCTCCCCTGCTCCCCTCCTCCCCCCTCCCCTGCTCCCCTCCTCCCC CCTCCCCAGCTCCCCCTCCTCCCCCCCCTGCTCCCCCTCCTCCCCCCTCC	CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding		83		chr20	TogoVar

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