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
PIEZO1_chr16_88710338_88790220	88713084	C C	CCTGAGAG others(830): Show CCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAG CCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCC CCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCCTTCCCCGGGCC CTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCC ACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGTCCTGACCCCCACTCATA CCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGA GCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCTT CCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCTTCCCCGGGC CCTGACCCCCACTCATACCCGAGAGCCCTCCTTCCCCGGGCCCTGACCCC CACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATAC CCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAG CCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTC CCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGC CCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCC CACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCAT ACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAG CCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG01106.hp2 HG01243.hp1 others(4): Show HG00280.hp2 HG01106.hp2 HG01243.hp1 HG02698.hp1 HG03098.hp2 NA19030.hp2 NA21309.hp2	a0003 a0007 a0033 a0003 a0007 a0033	a0003c0005 a0003c0086 a0007c0141 others(1): Show a0003c0005 a0003c0086 a0007c0141 a0033c0039	a0003c0005t0001 a0003c0005t0008 a0003c0086t0001 others(2): Show a0003c0005t0001 a0003c0005t0008 a0003c0086t0001 a0007c0141t0003 a0033c0039t0001	a0003c0005t0001g0134 a0003c0005t0001g0135 a0003c0005t0001g0228 others(4): Show a0003c0005t0001g0134 a0003c0005t0001g0135 a0003c0005t0001g0228 a0003c0005t0008g0281 a0003c0086t0001g0147 a0007c0141t0003g0011 a0033c0039t0001g0193	7	282	0.0248	837	c.25 others(848): Show c.2520_*2521insAGGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGG GGGGCTCTCGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTC GGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCAGGGGCATG AGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCGGGTATGAGTGGGGGT CAGGGCCCGGGGAAGGGGGGCTCTCAGGGGCATGAGTGGGGGTCAGGGCC CGGGGAAGGGGGGCTCTCGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGG GGGGCTCTCAGGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTC TCGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCGGGTATG AGTGGGGGTCAGGGCCCGGGGAAGGAGGGCTCTCGGGTATGAGTGGGGGT CAGGGCCCGGGGAAGGGGGCTCTCAGGGGTATGAGTGGGGGTCAGGGCCC GGGGAAGGGGGCTCTCAGGGGCATGAGTGGGGGTCAGGGCCCGGGGAAGG GGGCTCTCAGGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCT CGGGTATGAGTGGGGGTCAGGACCCGGGGAAGGGGGGCTCTCAGGGGCAT GAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCGGGTATGAGTGGGGG TCAGGGCCCGGGGAAGGGGGGCTCTCAGGGGTATGAGTGGGGGTCAGGGC CCGGGGAAGGGGGGCTCTCGGGTATGAGTGGGGGTCAGGGCCCGGGGAAG GGGGCTCTCAGGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGCTCT CAG	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding		2253		chr16	TogoVar
PLXNB2_chr22_50269979_50312646	50276362	G G	GCAGGGAG others(830): Show GCAGGGAGGGGGCGCTGTGGGCACGGCCGAGGGTGCAGCCGCAGGGAGGG GGCGCTGTGGGCACGGCCGTGGGTGCAGCCGCAGGGAGGGGGCGCTGTGG GCACGGCCGAGGGTGCAGCCGCAGGGAGGGGGCGCTGTGGGCACGGCCGA GGGTGCAGCCGCAGGGAGGGGGCGCTGTGGGCACGGCCGTGGGTGCAGCC GCAGGGAGGGGGCGCTGTGGGCACGGCCGAGGGTGCAGCCGCAGGGAGGG GGCGCTGTGGGCACGGCCGTGGGTGCAGCCGCAGGGAGGGGGCGCTGTGG GCACGGCCGTGGATGGAGCCGCAGGGAGGGGGTGCTGTGGGCACGGCCGA GGGTGCAGCCGCAGGGAGGGGGCGCTGTGGGCACGGCCGTGGATGGAGCC ACAGGGAGGGGGCGCTGTGGGCACGGCCGTGGGTGGAGCCACAGGGACGG GTGCTGTGGGCACAGCCGTGGATGGAGCGACAGGGAGGGGCGCTGTGGGC ACGGCCGTGGGTGGAGCGACAGGGAGGGGGCGCTGTGGGCAGGGCTGTGG GTGGAGCCACAGGGACCGGCGCTGTGGGCACGGCCCTGGGTGCAGCCGCA GGGAGGGGGCACTGTGGGCACGGCCGTGGGTGCAGCCACAGGGAGGGAGC GCTGTGGGCATGGCCGTGGATGGAGTGACAGGGAGGGGGCGCTGTGGGCA CGGCCGTGGGTGCAGCCGCAGGGAGGGGGCGCTGTGGGCACGGCCGTGGA TGGAGCAACAGGGAGGGGGCGCTGTGGGCACGGCCGAGGGTGCAGCCGCA GGGAGGGGGCGCTGTGGGCACGGCCGTGGATGGAGCCA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0024 a0024	a0024c0055 a0024c0055	a0024c0055t0001 a0024c0055t0001	a0024c0055t0001g0216 a0024c0055t0001g0216	1	302	0.0033	837	c.533 others(854): Show c.5337+266_5337+267insTGGCTCCATCCACGGCCGTGCCCACAGC GCCCCCTCCCTGCGGCTGCACCCTCGGCCGTGCCCACAGCGCCCCCTCCC TGTTGCTCCATCCACGGCCGTGCCCACAGCGCCCCCTCCCTGCGGCTGCA CCCACGGCCGTGCCCACAGCGCCCCCTCCCTGTCACTCCATCCACGGCCA TGCCCACAGCGCTCCCTCCCTGTGGCTGCACCCACGGCCGTGCCCACAGT GCCCCCTCCCTGCGGCTGCACCCAGGGCCGTGCCCACAGCGCCGGTCCCT GTGGCTCCACCCACAGCCCTGCCCACAGCGCCCCCTCCCTGTCGCTCCAC CCACGGCCGTGCCCACAGCGCCCCTCCCTGTCGCTCCATCCACGGCTGTG CCCACAGCACCCGTCCCTGTGGCTCCACCCACGGCCGTGCCCACAGCGCC CCCTCCCTGTGGCTCCATCCACGGCCGTGCCCACAGCGCCCCCTCCCTGC GGCTGCACCCTCGGCCGTGCCCACAGCACCCCCTCCCTGCGGCTCCATCC ACGGCCGTGCCCACAGCGCCCCCTCCCTGCGGCTGCACCCACGGCCGTGC CCACAGCGCCCCCTCCCTGCGGCTGCACCCTCGGCCGTGCCCACAGCGCC CCCTCCCTGCGGCTGCACCCACGGCCGTGCCCACAGCGCCCCCTCCCTGC GGCTGCACCCTCGGCCGTGCCCACAGCGCCCCCTCCCTGCGGCTGCACCC TCGGCCGTGCCCACAGCGCCCCCTCCCTGCGGCTGCACCCACGGCCGTGC CCACAGCGCCCCCTCCCTGCGGCTGCACCCTCGGCCGTGCCCACAGCGCC CCCTCCCTG	PLXNB2	ENSG00000196576.16	transcript	ENST00000359337.9	protein_coding	35/36			chr22	TogoVar
PLXNB2_chr22_50269979_50312646	50276362	G G	GCAGGGAG others(830): Show GCAGGGAGGGGGCGCTGTGGGCACGGCCGAGGGTGCAGCCGCAGGGAGGG GGCGCTGTGGGCACGGCCGTGGGTGCAGCCGCAGGGAGGGGGCGCTGTGG GCACGGCCGAGGGTGCAGCCGCAGGGAGGGGGCGCTGTGGGCACGGCCGA GGGTGCAGCCGCAGGGAGGGGGCGCTGTGGGCACGGCCGTGGGTGCAGCC GCAGGGAGGGGGCGCTGTGGGCACGGCCGAGGGTGCAGCCGCAGGGAGGG GGCGCTGTGGGCACGGCCGTGGGTGCAGCCGCAGGGAGGGGGCGCTGTGG GCACGGCCGTGGATGGAGCCGCAGGGAGGGGGTGCTGTGGGCACGGCCGA GGGTGCAGCCGCAGGGAGGGGGCGCTGTGGGCACGGCCGTGGATGGAGCC ACAGGGAGGGGGCGCTGTGGGCACGGCCGTGGGTGGAGCCACAGGGACGG GTGCTGTGGGCACAGCCGTGGATGGAGCGACAGGGAGGGGCGCTGTGGGC ACGGCCGTGGGTGGAGCGACAGGGAGGGGGCGCTGTGGGCAGGGCTGTGG GTGGAGCCACAGGGACCGGCGCTGTGGGCACGGCCCTGGGTGCAGCCGCA GGGAGGGGGCACTGTGGGCACGGCCGTGGGTGCAGCCACAGGGAGGGGGC GCTGTGGGCATGGCCGTGGATGGAGTGACAGGGAGGGGGCGCTGTGGGCA CGGCCGTGGGTGCAGCCGCAGGGAGGGGGCGCTGTGGGCACGGCCGTGGA TGGAGCAACAGGGAGGGGGCGCTGTGGGCACGGCCGAGGGTGCAGCCGCA GGGAGGGGGCGCTGTGGGCACGGCCGTGGATGGAGCCA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01934.hp2 HG02004.hp1 others(11): Show HG00673.hp1 HG01934.hp2 HG02004.hp1 HG02027.hp1 HG02040.hp1 HG02273.hp1 HG03239.hp1 HG03704.hp2 NA18950.hp1 NA18970.hp2 NA18990.hp2 NA19007.hp2 NA19081.hp1 NA20805.hp1	a0001 a0003 a0004 others(4): Show a0001 a0003 a0004 a0005 a0007 a0011 a0013	a0001c0002 a0003c0042 a0004c0008 others(8): Show a0001c0002 a0003c0042 a0004c0008 a0005c0067 a0005c0068 a0007c0029 a0007c0066 a0007c0076 a0011c0024 a0011c0062 a0013c0030	a0001c0002t0001 a0003c0042t0001 a0004c0008t0005 others(8): Show a0001c0002t0001 a0003c0042t0001 a0004c0008t0005 a0005c0067t0001 a0005c0068t0005 a0007c0029t0001 a0007c0066t0001 a0007c0076t0001 a0011c0024t0001 a0011c0062t0001 a0013c0030t0001	a0001c0002t0001g0181 a0003c0042t0001g0019 a0004c0008t0005g0008 others(9): Show a0001c0002t0001g0181 a0003c0042t0001g0019 a0004c0008t0005g0008 a0005c0067t0001g0045 a0005c0068t0005g0257 a0007c0029t0001g0084 a0007c0029t0001g0088 a0007c0066t0001g0061 a0007c0076t0001g0258 a0011c0024t0001g0002 a0011c0062t0001g0083 a0013c0030t0001g0085	14	302	0.0464	837	c.533 others(854): Show c.5337+266_5337+267insTGGCTCCATCCACGGCCGTGCCCACAGC GCCCCCTCCCTGCGGCTGCACCCTCGGCCGTGCCCACAGCGCCCCCTCCC TGTTGCTCCATCCACGGCCGTGCCCACAGCGCCCCCTCCCTGCGGCTGCA CCCACGGCCGTGCCCACAGCGCCCCCTCCCTGTCACTCCATCCACGGCCA TGCCCACAGCGCCCCCTCCCTGTGGCTGCACCCACGGCCGTGCCCACAGT GCCCCCTCCCTGCGGCTGCACCCAGGGCCGTGCCCACAGCGCCGGTCCCT GTGGCTCCACCCACAGCCCTGCCCACAGCGCCCCCTCCCTGTCGCTCCAC CCACGGCCGTGCCCACAGCGCCCCTCCCTGTCGCTCCATCCACGGCTGTG CCCACAGCACCCGTCCCTGTGGCTCCACCCACGGCCGTGCCCACAGCGCC CCCTCCCTGTGGCTCCATCCACGGCCGTGCCCACAGCGCCCCCTCCCTGC GGCTGCACCCTCGGCCGTGCCCACAGCACCCCCTCCCTGCGGCTCCATCC ACGGCCGTGCCCACAGCGCCCCCTCCCTGCGGCTGCACCCACGGCCGTGC CCACAGCGCCCCCTCCCTGCGGCTGCACCCTCGGCCGTGCCCACAGCGCC CCCTCCCTGCGGCTGCACCCACGGCCGTGCCCACAGCGCCCCCTCCCTGC GGCTGCACCCTCGGCCGTGCCCACAGCGCCCCCTCCCTGCGGCTGCACCC TCGGCCGTGCCCACAGCGCCCCCTCCCTGCGGCTGCACCCACGGCCGTGC CCACAGCGCCCCCTCCCTGCGGCTGCACCCTCGGCCGTGCCCACAGCGCC CCCTCCCTG	PLXNB2	ENSG00000196576.16	transcript	ENST00000359337.9	protein_coding	35/36			chr22	TogoVar
RAB11FIP3_chr16_420649_528011	492490	C C	CCGGGAGA others(830): Show CCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCCGGGAGACCCGAGGCCGC CCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAG ACCCGAGGCCGCCCAGGGCCCTCCCGGGAGACCCGAGGCCGCCCAGAGCC CTTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGG CCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCGG GAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAG AGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCC GAGGCCGCCCAGAGCCCTCCCCGGGAGACCCGAGGCCGCCCAGAGCCCTC CCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCG CCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGA GACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGG CCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGA GGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCC CGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCC CAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGA CCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCC CTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0247 a0001c0001t0020g0247	1	295	0.0034	837	c.126 others(856): Show c.1265+3490_1265+3491insCGGGAGACCCGAGGCCGCCCAGAGCC CTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGG CCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCGG GAGACCCGAGGCCGCCCAGAGCCCTTCCCGGGAGACCCGAGGCCGCCCAG GGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCC GAGGCCGCCCAGGGCCCTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCC CCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCCGGGAGACCCGAGGCCGC CCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCCGGGAG ACCCGAGGCCGCCCAGAGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGC CCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAG GCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCC GGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCC AGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGAC CCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCC TCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGC CGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGG GAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAG GGCCCTTCCCG	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13			chr16	TogoVar
RAB11FIP3_chr16_420649_528011	492490	C C	CCGGGAGA others(830): Show CCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCCGGGAGACCCGAGGCCGC CCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAG ACCCGAGGCCGCCCAGGGCCCTCCCGGGAGACCCGAGGCCGCCCAGAGCC CTTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGG CCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCGG GAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAG GGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCC GAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTC CCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCG CCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGA GACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGG CCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGA GGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCC CGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCC CAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGA CCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCC CTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0007 a0007	a0007c0015 a0007c0015	a0007c0015t0020 a0007c0015t0020	a0007c0015t0020g0199 a0007c0015t0020g0199	1	295	0.0034	837	c.126 others(856): Show c.1265+3490_1265+3491insCGGGAGACCCGAGGCCGCCCAGAGCC CTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGG CCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCGG GAGACCCGAGGCCGCCCAGAGCCCTTCCCGGGAGACCCGAGGCCGCCCAG GGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCC GAGGCCGCCCAGGGCCCTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCC CCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGC CCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAG ACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGC CCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAG GCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCC GGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCC AGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGAC CCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCC TCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGC CGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGG GAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAG GGCCCTTCCCG	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13			chr16	TogoVar
RAB3C_chr5_58578075_58864394	58597333	T T	TATGTAAT others(830): Show TATGTAATACACAATATATATTATATAATATGTAATACACAATATATATT ATATAATATGTAATACACAATATATATTATATAATATGTAATACACAATA TATATTATATAATATGTAATACACAATATATATTATATAATATGTAATAC ACAATATATATTATATAATATGTAATACACAATATATATTATATAATATG TAATACACAATATATATTATATAATAATATGTAATACACAATATATATTA TATAATAATATGTAATACACAATATATTATATAATAATATGTAATACACA ATATATTATATAATATGTAATACACAATATATTATATAATAATATGTAAT ACACAATATATTATATAATAATATGTAATACACAATATATTATATAATAA TATGTAATACACAATATATTATATAATAATATGTAATACACAATATATTA TATAATAATATGTAATACACAATATATTATATAATAATATGTAATACACA ATATATTATATAATAATATGTAATACACAATATATTATATAATAATATGT AATACACAATATATTATATAATAATATGTAATACACAATATATTATATAA TAATATGTAATACACAATATATTATATAATAATATGTAATACACAATATA TTATATAATAATATGTAATACACAATATATTATATAATAATATGTAATAC ATTATACATTATTATATAAGTATATGTAATACATTATACATTATTATATA AGCATATGTAATATATATTATACATTATTATATAAGCATATGTAATATAT ATTATACATTATTATATAAGCATATATAATACATAATA	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0050 a0001c0001t0046g0050	1	220	0.0046	837	c.24+ others(854): Show c.24+14101_24+14102insATGTAATACACAATATATATTATATAAT ATGTAATACACAATATATATTATATAATATGTAATACACAATATATATTA TATAATATGTAATACACAATATATATTATATAATATGTAATACACAATAT ATATTATATAATATGTAATACACAATATATATTATATAATATGTAATACA CAATATATATTATATAATATGTAATACACAATATATATTATATAATAATA TGTAATACACAATATATATTATATAATAATATGTAATACACAATATATTA TATAATAATATGTAATACACAATATATTATATAATATGTAATACACAATA TATTATATAATAATATGTAATACACAATATATTATATAATAATATGTAAT ACACAATATATTATATAATAATATGTAATACACAATATATTATATAATAA TATGTAATACACAATATATTATATAATAATATGTAATACACAATATATTA TATAATAATATGTAATACACAATATATTATATAATAATATGTAATACACA ATATATTATATAATAATATGTAATACACAATATATTATATAATAATATGT AATACACAATATATTATATAATAATATGTAATACACAATATATTATATAA TAATATGTAATACACAATATATTATATAATAATATGTAATACACAATATA TTATATAATAATATGTAATACATTATACATTATTATATAAGTATATGTAA TACATTATACATTATTATATAAGCATATGTAATATATATTATACATTATT ATATAAGCATATGTAATATATATTATACATTATTATATAAGCATATATAA TACATAATA	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	1/4			chr5	TogoVar
RAB3C_chr5_58578075_58864394	58597333	T T	TATGTAAT others(830): Show TATGTAATACACAATATATATTATATAATATGTAATACACAATATATATT ATATAATATGTAATACACAATATATATTATATAATATGTAATACACAATA TATATTATATAATATGTAATACACAATATATATTATATAATATGTAATAC ACAATATATATTATATAATATGTAATACACAATATATATTATATAATATG TAATACACAATATATATTATATAATATGTAATACACAATATATATTATAT AATATGTAATACACAATATATATTATATAATATGTAATACACAATATATA TTATATAATAATATGTAATACACAATATATTATATAATAATATGTAATAC ACAATATATTATATAATAATATGTAATACACAATATATTATATAATATGT AATACACAATATATTATATAATATGTAATACACAATATATTATATAATAA TATGTAATACACAATATATTATATAATAATATGTAATACACAATATATTA TATAATAATATGTAATACACAATATATTATATAATAATATGTAATACACA ATATATTATATAATAATATGTAATACACAATATATTATATAATAATATGT AATACACAATATATTATATAATAATATGTAATACACAATATATTATATAA TAATATGTAATACATTATACATTATTATATAAGTATATGTAATACATTAT ACATTATTATATAAGTATATGTAATATATATTATACATTATTATATAAGT ATATGTAATATATATTATACATTATTATATAAGCATATAATATATAATAC ATAATACATTATATATAAGCATATAACAATACATAATA	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0052 a0001c0001t0024g0052	1	220	0.0046	837	c.24+ others(854): Show c.24+14101_24+14102insATGTAATACACAATATATATTATATAAT ATGTAATACACAATATATATTATATAATATGTAATACACAATATATATTA TATAATATGTAATACACAATATATATTATATAATATGTAATACACAATAT ATATTATATAATATGTAATACACAATATATATTATATAATATGTAATACA CAATATATATTATATAATATGTAATACACAATATATATTATATAATATGT AATACACAATATATATTATATAATATGTAATACACAATATATATTATATA ATATGTAATACACAATATATATTATATAATAATATGTAATACACAATATA TTATATAATAATATGTAATACACAATATATTATATAATAATATGTAATAC ACAATATATTATATAATATGTAATACACAATATATTATATAATATGTAAT ACACAATATATTATATAATAATATGTAATACACAATATATTATATAATAA TATGTAATACACAATATATTATATAATAATATGTAATACACAATATATTA TATAATAATATGTAATACACAATATATTATATAATAATATGTAATACACA ATATATTATATAATAATATGTAATACACAATATATTATATAATAATATGT AATACACAATATATTATATAATAATATGTAATACATTATACATTATTATA TAAGTATATGTAATACATTATACATTATTATATAAGTATATGTAATATAT ATTATACATTATTATATAAGTATATGTAATATATATTATACATTATTATA TAAGCATATAATATATAATACATAATACATTATATATAAGCATATAACAA TACATAATA	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	1/4			chr5	TogoVar
RBPMS_chr8_30379541_30577256	30388398	G G	GCTTATAA others(830): Show GCTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTAT AGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATA ACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATA GCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAAC TTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAG CTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAAC TTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAG CTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGC TATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTT ATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCT ATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTT ATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCT AACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTA TAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTAT AACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTAT AAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02895.hp1 HG02922.hp1 others(2): Show HG02615.hp2 HG02895.hp1 HG02922.hp1 HG02976.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0017 a0001c0001t0018 a0001c0001t0001 a0001c0001t0017 a0001c0001t0018	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(2): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0017g0005 a0001c0001t0018g0003	5	304	0.0165	837	c.66+ others(852): Show c.66+3483_66+3484insGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATA GCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAAC TTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAG CTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAAC TTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAG CTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGC TATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTT ATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCT ATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTT ATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCT AACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTA TAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTAT AACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTAT AAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTAT AGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAA CTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATA GCTATAA	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
REEP6_chr19_1486181_1502927	1500849	A A	AGGGGAAG others(830): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGAGGGGGAGG GGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGGGAGGAGGGGAGGGGG GAGGAGGGGAGGGGGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGAGGG AGGAGGGGAGGGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGG GAGGAGGGAAGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGAGGA GGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGGGGGAGGAG GGGAGGGCGGGGAGGAGGGGACGGGGGAGGAGGGAGGAGGGGAGGGGGGA GGAGGGGAGGGGGGAGGGGGGAGGAGGGGAGGAGGGAGGAGGGGAGGAGG GAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGA GGGGAGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAAGAGGGAGGAG GGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGG GGAGGGGGGAGGAGGGGGGGAGGAGGGGAGGGGGGGAGGAGGGGAGGGGG GAGGAGGGAGGAGGGGAGGGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAG GGGAGGGGGAGGAGGGAAGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAG GAGGGAAGGGGGAGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAA GGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGC GGGGAGGAGGGGACGGGGGAGGAGGGGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0145 a0001c0001t0013g0145	1	318	0.0031	837	c.36 others(848): Show c.3638_*3639insGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGG AGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGG GAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGAGGGGGGAGGAGGG GAGGGGGGAGGAGGGAGGAGGGGAGGGGGGAGAGGGGGGAGGGGGAGAGG GGAGGAGGGGAGGGGGAGGAGGGAAGGAGGAGGGGAGGGGGAGGAGGGAA GGGGGAGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGG GGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGGAGGAGGGA GGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGGAGGAGGGGAGGAGG GAGGAGGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGA GGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAGGGGGAGGAGGGAGGAG GGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAGGG GGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGGGAGGAGGGGAGGGGGG GAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGGGGGGAGAGGGGGGAGG GGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAGGAGGAGGGGAGGGGGA GGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGAGGAGGGGAGGAGGGGA GGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGGG GGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGGAGGAGGGGAGGGGGGA GGG	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		2923		chr19	TogoVar
SCNN1D_chr1_1275436_1297025	1284179	G G	GGGTGGGG others(830): Show GGGTGGGGGGTTGGGGGGGTTGGGTGAGGGGTTGGGGGGGTTGGGTGAGG GGGGTGGGGTTGGGGGGGGTTGAGTGAGGGGGGTGGGGGGTTTGGTGGGG GGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTG GGGGGGGTTGAGTGAGGGGGGTGGGGGGTTTGGTGGGGGGTTGGGTGAGG GGGGTGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGT GAGGGGGGTGGGGGGGTTGGGTGGGGGGTTGGGTGAGGGGGTTGGGTGAG GGGGGTGGGGTTGGGGGGGGTTGAGTGAGGGGGGTGGGGGGGTTTGGTGG GGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGG TGGGGGGGTTGAGTGAGGGGGGTGGGGGGGTTGGGTGGGGGGTTGGGTGA GGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGGTGAGGGGGGTGGG GTCGGGGGGGGTTGAGTGAGGGGGGTGGGGGGGTTGGGTGGGGGTTGGGT GAGGGGGTTGGGTGAGGGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGG GGGGTTGGGTGAGGGGGGTGGGGGGTTGGGTGGGGGGTTGGGTGAGGGGG TTGGGGGGGTTGAGTGAGGGGGGTGGGGGTGGGTGAGGGGGGTGGGGTGG GGGGGGTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGG GTGTTGGGTGAGGGGTTGGGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGG GTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGTT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0246	1	290	0.0035	837	c.464 others(850): Show c.464+91_464+92insTGGGGGGTTGGGGGGGTTGGGTGAGGGGTTGG GGGGGTTGGGTGAGGGGGGTGGGGTTGGGGGGGGTTGAGTGAGGGGGGTG GGGGGTTTGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGGT GAGGGGGGTGGGGTGGGGGGGGTTGAGTGAGGGGGGTGGGGGGTTTGGTG GGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGGTGAGGGGGGTGGG GTGGGGGGGTTGAGTGAGGGGGGTGGGGGGGTTGGGTGGGGGGTTGGGTG AGGGGGTTGGGTGAGGGGGGTGGGGTTGGGGGGGGTTGAGTGAGGGGGGT GGGGGGGTTTGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGG GTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGGGGTTGGG TGGGGGGTTGGGTGAGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTG GGTGAGGGGGGTGGGGTCGGGGGGGGTTGAGTGAGGGGGGTGGGGGGGTT GGGTGGGGGTTGGGTGAGGGGGTTGGGTGAGGGGGTGGGGGGTTGGGTGA GGGGGGTGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGGGTTGGGTGGGG GGTTGGGTGAGGGGGTTGGGGGGGTTGAGTGAGGGGGGTGGGGGTGGGTG AGGGGGGTGGGGTGGGGGGGGTGGGTGAGGGGGGTGGGGTGGGGGGGTTG AGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGGGGTTGGGTGAGGG GGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGG GTTGG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SEL1L2_chr20_13844247_13995614	13934322	G G	GTATTCCA others(830): Show GTATTCCATATATATATATTCCATATATATATATATTCCATATATATATA TATTCCATATATATATATATTCCATATATATATATATTCCATATATATAT ATATTCCATATATATATATATTCCATATATATATATATTCCATATATATA TATATATTCCATATATATATATATTCCATATATATATATATATTCCATAT ATATATATATTCCATATATATATATATATTCCATATATATATATATTCCA TATATATATATATTCCATATATATATATATTCCATATATATATATATATT CCATATATATATATATTCCATATATATATATATATTCCATATATATATAT TCCATATATATATATATTCCATATATATATATTCCATATATATATATATT CCATATATATATATTCCATATATATATATATTCCATATATATATATTCCA TATATATATATATTCCATATATATATATTCCATATATATATATATTCCAT ATATATATATATTCCATATATATATATTCCATATATATATATATTCCATA TATATATATTCCATATATATATATATTCCATATATATATATATTCCATAT ATATATATATTCCATATATATATATTCCATATATATATATTCCATATATA TATATTCCATATATATATATTCCATATATATATATTCCATATATATATAT TCCATATATATATATTCCATATATATATATTCCATATATATATATATTCC ATATATATATATTCCATATATATATATATTCCATATATATATATATTCCA TATATATATATTCCATATATATATATTCCATATATATA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	324	0.0031	837	c.115 others(854): Show c.115-2552_115-2551insTATATATATGGAATATATATATATGGAA TATATATATATGGAATATATATATATATGGAATATATATATATATGGAAT ATATATATATGGAATATATATATATATGGAATATATATATATGGAATATA TATATATGGAATATATATATATGGAATATATATATATGGAATATATATAT ATGGAATATATATATATGGAATATATATATATGGAATATATATATATGGA ATATATATATATATGGAATATATATATATATGGAATATATATATATATGG AATATATATATATGGAATATATATATATATGGAATATATATATATGGAAT ATATATATATATGGAATATATATATATATGGAATATATATATATGGAATA TATATATATATGGAATATATATATATGGAATATATATATATATGGAATAT ATATATATGGAATATATATATATATGGAATATATATATATGGAATATATA TATATATGGAATATATATATATGGAATATATATATATATATGGAATATAT ATATATATGGAATATATATATATATATGGAATATATATATATATGGAATA TATATATATATGGAATATATATATATATGGAATATATATATATATATGGA ATATATATATATATGGAATATATATATATATATGGAATATATATATATAT GGAATATATATATATATATGGAATATATATATATATGGAATATATATATA TATGGAATATATATATATATGGAATATATATATATATGGAATATATATAT ATATGGAATATATATATATATGGAATATATATATATATGGAATATATATA TATGGAATA	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SERINC2_chr1_31408213_31439678	31432012	T T	TAGGGTGG others(830): Show TAGGGTGGATAGGATGGTTAGGGTGGACAGGGTGGACAGGGTGGATAGGG TGGATAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGAT AGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGGT GCTTAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATA GGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGCTTAGGGTG GACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAGAG GGTGGATAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGG AGAGGGTGGAGAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGG GTGGAGAGGGTGGATAGGGTGCTTAGGGTGGACAGGGTGGACAGGGTGGA TAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGATAGGG TGGATAGGGTGCTTAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGAT AGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGT GCTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGATGGTTA GGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGCTTAGGGTG GACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAGAG GGTGGATAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGG AGAGGGTGGTTAGGGTGCTTAGGGTGGATAGGGTGGAC	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0189 a0001c0004t0003g0189	1	376	0.0027	837	c.101 others(854): Show c.1014-947_1014-946insTAGGATGGTTAGGGTGGACAGGGTGGAC AGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGACAGGGT GGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGATA GGGTGGATAGGGTGCTTAGGGTGGACAGGGTGGACAGGGTGGATAGGGTG GATAGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGATAG GGTGCTTAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGG ATAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAGAGG GTGGATAGGGTGGAGAGGGTGGAGAGGGTGGACAGGGTGGATAGGGTGGA TAGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGCTTAGGGTGGACAGGG TGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGAT AGGGTGGATAGGGTGGATAGGGTGCTTAGGGTGGACAGGGTGGACAGGGT GGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATA GGGTGGATAGGGTGCTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTG GATAGGATGGTTAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAG GGTGCTTAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGG ATAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAGAGG GTGGATAGGGTGGAGAGGGTGGTTAGGGTGCTTAGGGTGGATAGGGTGGA CAGGGTGGA	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC12A7_chr5_1045384_1117063	1098431	G G	GGCCCCCT others(830): Show GGCCCCCTTTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCACA CCCAGGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCT GCTCACCCAGCCCCCCTCTAACCCTCTGCATGCCCAGCCCCCCTCTAACC CTCTGCACGCCCAGGCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCT AACCCTCTGCTCACCAAGCCCCCTTCTAACCCTCTGCTCACCCAGCCCCC TTCTAACCCTCTGCACGCCCAGGCCCCCTCTAACCCTCTGCATGCCCAGC CCCCCTCTAACCCTCTGCACGCCCAGCCCCCCTCTAACCCTCTGCATGCC CAGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCTTCTAACCCTCTGCA CGCCCAGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTC TGCATGCCCAGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCTTCTAAC CCTCTGCACGCCCAGCCCCCCTCTAACCCTCTGCTCACCCAGCCCCCCTC TAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCACACCCAGCCCC CCTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCACACCCAG CCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCATGC CCAGCCCCCCTCTAACCCTCTGCACGCCCAGCCCCCTTCTAACCCTCTGC ATGCCCAGCCCCCCTCTAACCCTCTGCTCACCCAGCCCCCCTCTAACCTT CTGCACACCCAGCCCCCTTCTAACCCTCTGCTCACCCA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0006 a0006	a0006c0019 a0006c0019	a0006c0019t0009 a0006c0019t0009	a0006c0019t0009g0013 a0006c0019t0009g0013	1	118	0.0085	837	c.125 others(854): Show c.125-4184_125-4183insTGGGTGAGCAGAGGGTTAGAAGGGGGCT GGGTGTGCAGAAGGTTAGAGGGGGGCTGGGTGAGCAGAGGGTTAGAGGGG GGCTGGGCATGCAGAGGGTTAGAAGGGGGCTGGGCGTGCAGAGGGTTAGA GGGGGGCTGGGCATGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGT TAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGA GGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGTGTG CAGAGGGTTAGAGGGGGGCTGGGTGAGCAGAGGGTTAGAGGGGGGCTGGG CGTGCAGAGGGTTAGAAGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGGC TGGGCATGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGG GGGCTGGGCGTGCAGAGGGTTAGAAGGGGGCTGGGTGTGCAGAGGGTTAG AGGGGGGCTGGGCATGCAGAGGGTTAGAGGGGGGCTGGGCGTGCAGAGGG TTAGAGGGGGGCTGGGCATGCAGAGGGTTAGAGGGGGCCTGGGCGTGCAG AGGGTTAGAAGGGGGCTGGGTGAGCAGAGGGTTAGAAGGGGGCTTGGTGA GCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGCCTGG GCGTGCAGAGGGTTAGAGGGGGGCTGGGCATGCAGAGGGTTAGAGGGGGG CTGGGTGAGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAGG GGGGCCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTT AAAGGGGGC	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	1/23			chr5	TogoVar
SPEF2_chr5_35612863_35819611	35708695	C C	CCATCACC others(830): Show CCATCACCACCATCATCACCTCTATCTCCACTACCACTACCAACACCACC ATCACTACCACCATCCCCACCACAGCCATCACCACCTCCACCACCATCAC CACCACTACCACCAGCACCATCACCACCTCTACCTCCATCACCGTCACCA CCTCTACCTCCATCACCATCACCACCATCATCACCTCTATCTCCACTACC ACTACCAACACCACCATCACTACCACCATCCCCACCATCATCACCTCTAT CTCCACTACCACTACCAACACCACCATCACTACCACCATCCCCACCACAG CCATCACCACCTCCGCCACCATCACCACCACTACCACCAGCACCATCACC ACCTCTACCTCCATCACCATCACCACCTCTATCTCCATCACCATCACAAC CTCTACCTCCACCAGCATCACCACCATCATCACCTCTATCTCCACTACCA CCATCACTACCACCATCCCCACCATAGCCATCACCACCTCCACTACCATC ACCACCTCTACCTCCACCACCATCACCACCATCATCACCTGTATCTCCAC TACCACCATCCCCACCACAGCCATCACCACCTCCACCACCATCACCAGCT CTTCCTCCACCACCACTACCAGCAGCACCATTACCACCATCACTACCCCT ACCTCTGCCACCATCATCACCACCACCACCTCCACCACCCCCATCACCAC CACCACCACCACCATCAGTACCACCATCCCCACCACAGCCATCACCACTT CTACCTGCACCACCACCACCATCACCACCTCCACCACAGTCAACACCACT GTTATTAATACCACCACCACCATCACCACTACCACCAT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0035 a0035	a0035c0027 a0035c0027	a0035c0027t0001 a0035c0027t0001	a0035c0027t0001g0192 a0035c0027t0001g0192	1	268	0.0037	837	c.266 others(854): Show c.2666-242_2666-241insTCATCACCTCTATCTCCACTACCACTAC CAACACCACCATCACTACCACCATCCCCACCACAGCCATCACCACCTCCA CCACCATCACCACCACTACCACCAGCACCATCACCACCTCTACCTCCATC ACCGTCACCACCTCTACCTCCATCACCATCACCACCATCATCACCTCTAT CTCCACTACCACTACCAACACCACCATCACTACCACCATCCCCACCATCA TCACCTCTATCTCCACTACCACTACCAACACCACCATCACTACCACCATC CCCACCACAGCCATCACCACCTCCGCCACCATCACCACCACTACCACCAG CACCATCACCACCTCTACCTCCATCACCATCACCACCTCTATCTCCATCA CCATCACAACCTCTACCTCCACCAGCATCACCACCATCATCACCTCTATC TCCACTACCACCATCACTACCACCATCCCCACCATAGCCATCACCACCTC CACTACCATCACCACCTCTACCTCCACCACCATCACCACCATCATCACCT GTATCTCCACTACCACCATCCCCACCACAGCCATCACCACCTCCACCACC ATCACCAGCTCTTCCTCCACCACCACTACCAGCAGCACCATTACCACCAT CACTACCCCTACCTCTGCCACCATCATCACCACCACCACCTCCACCACCC CCATCACCACCACCACCACCACCATCAGTACCACCATCCCCACCACAGCC ATCACCACTTCTACCTGCACCACCACCACCATCACCACCTCCACCACAGT CAACACCACTGTTATTAATACCACCACCACCATCACCACTACCACCATCA TCACCACCA	SPEF2	ENSG00000152582.14	transcript	ENST00000356031.8	protein_coding	18/36		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPIRE2_chr16_89823475_89876319	89852655	G G	GATCCCAT others(830): Show GATCCCATGATCCATCTTCCATCCTCCCTCTCACCCCCCGGATCCCATGG CCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCC GTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTC TCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCG CATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGG CCCGTCATACGTCTTCTCTCTCACCCCCCGGATCCCATGATCCATCTTCC ATCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTC TCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCCACCCCCCGG ATCCCATGGCCCATCTTCCATCCTCCCTCCACCCCCCGGATCCCCTGGCC CATCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGT CCTCCCTCTCACCCCCCGGATCCCATGGCCCATCTTCCATCCTCCCTCCA CCCCCCGGATCCCCTGGCCCATCTTCCGTCCTCCCTCTCACCCCCCGGAT CCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCTGGATCCCATGGCCC GTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTC CTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGCCCTCCCTCTCA CCCCCCGGATCCCATGATCCGTCTTCCGTCCTCCCTCTCACCCCCCGCAT CCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0038 a0002c0002t0002g0038	1	356	0.0028	837	c.646 others(854): Show c.646-1623_646-1622insATCCATCTTCCATCCTCCCTCTCACCCC CCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCA TGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCT TCCGTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCC CTCTCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCC CCGGATCCCATGGCCCGTCATACGTCTTCTCTCTCACCCCCCGGATCCCA TGATCCATCTTCCATCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCT TCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCC CTCCACCCCCCGGATCCCATGGCCCATCTTCCATCCTCCCTCCACCCCCC GGATCCCCTGGCCCATCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATG GCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCATCTTC CATCCTCCCTCCACCCCCCGGATCCCCTGGCCCATCTTCCGTCCTCCCTC TCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCTG GATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGG CCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCC GCCCTCCCTCTCACCCCCCGGATCCCATGATCCGTCTTCCGTCCTCCCTC TCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCG CATCCCATG	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
TMEM132B_chr12_125181386_125667369	125612896	A A	ATAAAAAT others(830): Show ATAAAAATATATATCATATATATTTATATATTGTATAAAAATATATATCA TATATATTTATATATTGTATAAAAATATATATCATATATATTTATATATT GTATAAAAATATATATATCATATATATTTATATATTATATAAAAATATAT ATATCATATATATTTATATATTATATAAAAATATATATCATATATATTTA TATATTATATATTATATATTTATATTTTATTTTTATATTTATATTATATA TATATTTTTATATTTATATTTATATATTATTATATTATATTTATATATTA TATAAAAATATATATCATATATATTTATATATTATATAAAAATATATATC ATATATATTTATATATTATATAAAAATATATATCATATATATTTATATAT TATATAAAAATATATATCATATATATTTATATATTATATAAAAATATATA TCATATATATTTATATATTATATAAAAATATATATCATATATATTTATAT ATTATATAAAAATATATATCATATATATTTATATATTATATAAAAATATA TATCATATATATTTATATATTAAAAATATATATCATATATATTTATATAT TAAAAATATATATCATATATATTTATATATTAAAAATATATATCATATAT ATTTATATATTAAAAATATATATCATATATATTTATATATTAAAAATATA TATCATATATATTTATATATTAAAAATATATATCATATATATTTATATAT TAAAATATATATCATATATATTTATATATTAAAATATATATCATATATAT TTATATATTAAAAATATATATCATATATATTTATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0041 a0002c0006t0041	a0002c0006t0041g0089 a0002c0006t0041g0089	1	128	0.0078	837	c.143 others(858): Show c.1437+28933_1437+28934insGTATAAAAATATATATCATATATA TTTATATATTGTATAAAAATATATATCATATATATTTATATATTGTATAA AAATATATATATCATATATATTTATATATTATATAAAAATATATATATCA TATATATTTATATATTATATAAAAATATATATCATATATATTTATATATT ATATATTATATATTTATATTTTATTTTTATATTTATATTATATATATATT TTTATATTTATATTTATATATTATTATATTATATTTATATATTATATAAA AATATATATCATATATATTTATATATTATATAAAAATATATATCATATAT ATTTATATATTATATAAAAATATATATCATATATATTTATATATTATATA AAAATATATATCATATATATTTATATATTATATAAAAATATATATCATAT ATATTTATATATTATATAAAAATATATATCATATATATTTATATATTATA TAAAAATATATATCATATATATTTATATATTATATAAAAATATATATCAT ATATATTTATATATTAAAAATATATATCATATATATTTATATATTAAAAA TATATATCATATATATTTATATATTAAAAATATATATCATATATATTTAT ATATTAAAAATATATATCATATATATTTATATATTAAAAATATATATCAT ATATATTTATATATTAAAAATATATATCATATATATTTATATATTAAAAT ATATATCATATATATTTATATATTAAAATATATATCATATATATTTATAT ATTAAAAATATATATCATATATATTTATATATTAAAAATATATATCATAT ATATTTATATATT	TMEM132B	ENSG00000139364.11	transcript	ENST00000682704.1	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM178B_chr7_141069064_141485380	141337156	C C	CACCACCA others(830): Show CACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCACCA TCACCACCACCACCACCATCACCACCACCACCACCACCACCACCACCACC ATCACCACCACCACCACCACCACCACCATCACCACCACCACCACCACCAC CACCACCAGCATCACCACCATCACCACCAGCATCACCACCATCACCACCA GCACCACCAGCATCACCACCATCACCACCACCACCACCACCATCACCACC ACCACCACCACCACCATCACCACCACCACCACCACCACCACCACCACCAG CATCACCACCACCACCACCATCACCACCACCACCACCACCACCACCACCA GCATCACCACCATCACCACCACCACCACCACCATCACCACCAGCATCACC ACCATCACCACCACCATCACCACCACCACCACCACCACCACCACCATCAC CACCACCACCACCACGACCACCACCAGCATCACCACCACGACCACCACCA GCATCACCACCACGACCACCACCAGCATCACCACCATCACCACCATCACC ACCACCACCACCATCACTACCACCACCACCACCACCACCACCACCACCAG CACCACCACCATCACCACCACCACCATCACCACCACCACCACCAGCACCA CCATCATCACCACCACCACCACCACCAGCACCACCATCATCACCACCACC ACCACCACCACCACCATCACCACCAGCATCACCACCATCACCACCACCAT CACCACTACCACCACCACCACCATCACCACCACCACCACCACCAGCATCA CCACCATCACCACCATCACCACCACCACCACCATCACT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0056 a0001c0002t0015g0056	1	80	0.0125	837	c.497 others(858): Show c.497-100451_497-100450insCCACCACCACCACCACCATCACCA CCACCACCACCACCACCACCACCATCACCACCACCACCACCATCACCACC ACCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCAC CATCACCACCACCACCACCACCACCACCACCAGCATCACCACCATCACCA CCAGCATCACCACCATCACCACCAGCACCACCAGCATCACCACCATCACC ACCACCACCACCACCATCACCACCACCACCACCACCACCATCACCACCAC CACCACCACCACCACCACCACCAGCATCACCACCACCACCACCATCACCA CCACCACCACCACCACCACCACCAGCATCACCACCATCACCACCACCACC ACCACCATCACCACCAGCATCACCACCATCACCACCACCATCACCACCAC CACCACCACCACCACCACCATCACCACCACCACCACCACGACCACCACCA GCATCACCACCACGACCACCACCAGCATCACCACCACGACCACCACCAGC ATCACCACCATCACCACCATCACCACCACCACCACCATCACTACCACCAC CACCACCACCACCACCACCACCAGCACCACCACCATCACCACCACCACCA TCACCACCACCACCACCAGCACCACCATCATCACCACCACCACCACCACC AGCACCACCATCATCACCACCACCACCACCACCACCACCATCACCACCAG CATCACCACCATCACCACCACCATCACCACTACCACCACCACCACCATCA CCACCACCACCACCACCAGCATCACCACCATCACCACCATCACCACCACC ACCACCATCACTA	TMEM178B	ENSG00000261115.7	transcript	ENST00000565468.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
TRAPPC12_chr2_3374694_3484565	3437768	T T	TCACCCCA others(830): Show TCACCCCAGGATTAATACCCCATCACCCCTGGATTAATCCCCCCATCACC CCTGGATTAATCCCCCATCACCCCTGAATTAATCCCCCCATCACCCCTGG ATTAATACCCCATCACCCCTGGATTAATACCCCATCACCCCTGGATTAAT ACCCCATCACCCCTGGATTAATCCCCCCACCACCCCTGGATTAATCCCCC AATCACCCCTGGATTAATCCCCCCATCACCCCAGGATTAATACCCCATCA CCCCAGGATTAATACCCCATCACCCCTGGATTAATCCCCCCATCACCCCT GGTTTAATCCCCCAATCACCCCTGGATTAATCCCCCCATCACCCCAGGAT TAATACCCCATCACCCCTGAATTAATCCCCCCACCACCCCTGGATTAATC CCCCAATCACCCCTGGATTAATCCCCCAATCACCCCTGGATTAATGCCCC ATCACCCCTGGATTAATCCCCCAATCACCCCTGGATTAATCCCCCCATCA CCCCTGGATTAATCCCCCCATCACCCCTGGATTAATACCCCACCACCCCT GAATTAATCCCCCCACCACCCCTGGATTAATCCCCCAATCACCCCTGGAT TAATCCCCCCATCACCCCTGGATTAATACCCCATCACCCCTGGATTAATC CCCCAATCACCCCTGGATTAATCCCCCCATCACCCCTGGATTAATACCCC ATCACCCCTGAATTAATCCCCCCACCACCCCTGGATTAATCCCCCAATCA CCCCTGGATTAATCCCCCCATCACCCCTGGATTAATACCCCATCACCCCT GGATTAATACCCCATCACCCCTGGATTAATCCCCCCAC	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18975.hp1 NA19055.hp1 NA18967.hp1 NA18975.hp1 NA19055.hp1	a0002 a0005 a0002 a0005	a0002c0024 a0005c0036 a0002c0024 a0005c0036	a0002c0024t0002 a0005c0036t0001 a0002c0024t0002 a0005c0036t0001	a0002c0024t0002g0138 a0002c0024t0002g0140 a0005c0036t0001g0020 a0002c0024t0002g0138 a0002c0024t0002g0140 a0005c0036t0001g0020	3	344	0.0087	837	c.141 others(856): Show c.1418-6005_1418-6004insAGGATTAATACCCCATCACCCCTGGA TTAATCCCCCCATCACCCCTGGATTAATCCCCCATCACCCCTGAATTAAT CCCCCCATCACCCCTGGATTAATACCCCATCACCCCTGGATTAATACCCC ATCACCCCTGGATTAATACCCCATCACCCCTGGATTAATCCCCCCACCAC CCCTGGATTAATCCCCCAATCACCCCTGGATTAATCCCCCCATCACCCCA GGATTAATACCCCATCACCCCAGGATTAATACCCCATCACCCCTGGATTA ATCCCCCCATCACCCCTGGTTTAATCCCCCAATCACCCCTGGATTAATCC CCCCATCACCCCAGGATTAATACCCCATCACCCCTGAATTAATCCCCCCA CCACCCCTGGATTAATCCCCCAATCACCCCTGGATTAATCCCCCAATCAC CCCTGGATTAATGCCCCATCACCCCTGGATTAATCCCCCAATCACCCCTG GATTAATCCCCCCATCACCCCTGGATTAATCCCCCCATCACCCCTGGATT AATACCCCACCACCCCTGAATTAATCCCCCCACCACCCCTGGATTAATCC CCCAATCACCCCTGGATTAATCCCCCCATCACCCCTGGATTAATACCCCA TCACCCCTGGATTAATCCCCCAATCACCCCTGGATTAATCCCCCCATCAC CCCTGGATTAATACCCCATCACCCCTGAATTAATCCCCCCACCACCCCTG GATTAATCCCCCAATCACCCCTGGATTAATCCCCCCATCACCCCTGGATT AATACCCCATCACCCCTGGATTAATACCCCATCACCCCTGGATTAATCCC CCCACCACCCC	TRAPPC12	ENSG00000171853.16	transcript	ENST00000324266.10	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
WDR70_chr5_37374318_37758435	37557901	A A	ATACTCTT others(830): Show ATACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAA AAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCT TCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAA CTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTG AAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCT TTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTA CTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAG AGTACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCA AAAGAGTACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAATACTC TTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAAT ACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTT GAATACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAGAGTACTC TTTTGAATACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAGAGT ACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAAAA GAGTACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAATACTCTTC AAAAGAGTACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAATACT CTTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAGAG	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0219 a0001c0001t0002g0219	1	242	0.0041	837	c.917 others(856): Show c.917+41323_917+41324insTACTCTTCAAAAGAGTACTCTTTTGA ATACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTT TTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTAC TCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGA GTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAA AAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCT TCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAA CTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTG AAAACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAGAGTACTCT TTTGAATACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAGAGTA CTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAG AGTACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCA AAAGAGTACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAATACTC TTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAAT ACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTT GAATACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAGAGTACTC TTTTGAATACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAGAGT ACTCTTTTGAA	WDR70	ENSG00000082068.9	transcript	ENST00000265107.9	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
WDR70_chr5_37374318_37758435	37557901	A A	ATACTCTT others(830): Show ATACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAA AAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCT TCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAA CTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTG AAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCT TTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTA CTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAG AGTACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCA AAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTC TTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAAT ACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTT GAATACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAGAGTACTC TTTTGAATACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAGAGT ACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAAAA GAGTACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAATACTCTTC AAAAGAGTACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAATACT CTTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAGAG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0220 a0001c0001t0002g0220	1	242	0.0041	837	c.917 others(856): Show c.917+41323_917+41324insTACTCTTCAAAAGAGTACTCTTTTGA ATACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTT TTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTAC TCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGA GTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAA AAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCT TCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAA CTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTG AATACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCT TTTGAAAACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAGAGTA CTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAG AGTACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCA AAAGAGTACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAATACTC TTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAAT ACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTT GAATACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAGAGTACTC TTTTGAATACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAGAGT ACTCTTTTGAA	WDR70	ENSG00000082068.9	transcript	ENST00000265107.9	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
ABCB11_chr2_168915781_169036324	168975252	T T	TATATTTA others(831): Show TATATTTATAGATAAATATATAAATATTTATATATTTATAGATAAATATA TAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTATA GATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATTTT TATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTA TAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTATA GATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATTTT TATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTA TAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTATA GATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATTTT TATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATATA TAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATATAAA TATTTATATATTTATAGATAAATATATATATAAATATTTATATATTTATA GATAAATATATAAATATATATATATTTATATATTTATAGATAAATATATA AATATATAAATATTTATAGATAAATATATAAATATATAAATATTTATAGA TAAATATATAAATATATAAATATTTATATATTTATCGATAAATATATAAA TATTTATATATTTATCTATAAATATATAAATATTTATATATTTATAGATA AATATATAAATATTTATATATTTATAGATAAATATATAA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0003 a0003	a0003c0014 a0003c0014	a0003c0014t0005 a0003c0014t0005	a0003c0014t0005g0089 a0003c0014t0005g0089	1	306	0.0033	838	c.130 others(857): Show c.1308+1324_1308+1325insTTATATATTTATCTATAAATATATAA ATATTTATATATTTATCTATAAATATATAAATATTTATATATTTATAGAT AAATATATAAATATTTATATATTTATCGATAAATATATAAATATTTATAT ATTTATATATTTATCTATAAATATTTATATATTTATATATTTATCTATAA ATATTTATATATTTATATATTTATCTATAAATATATAAATATATATATAT TTATATATTTATCTATAAATATATAAATATTTATATATATATTTATCTAT AAATATATAAATATTTATATATTTATATATTTATCTATAAATATAAAAAT ATTTATATATTTATATATTTATCTATAAATATAAAAATATTTATACATTT ATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATAT TTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAAT ATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACATTT ATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATAT TTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAAT ATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACATTT ATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATAT TTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAAT ATAAAAATATTTATATATTTATCTATAAATATATAAATATTTATATATTT ATCTATAAATAT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABCB11_chr2_168915781_169036324	168975252	T T	TATATTTA others(831): Show TATATTTATAGATAAATATATAAATATTTATATATTTATAGATAAATATA TAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTATA GATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATTTT TATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTA TAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTATA GATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATTTT TATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTA TAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTATA GATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATTTT TATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTA TAAATATTTTTATATTTATAGATAAATATATAAATATATAAATATTTTTA TATTTATAGATAAATATATAAATATATAAATATTTATATATTTATAGATA AATATATATATAAATATTTATATATTTATAGATAAATATATAAATATATA TATATTTATATATTTATAGATAAATATATAAATATATAAATATTTATAGA TAAATATATAAATATATAAATATTTATATATTTATAGATAAATATATAAA TATTTATATATTTATCTATAAATATATAAATATTTATATATTTATAGATA AATATATAAATATTTATATATTTATAGATAAATATATAA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0003 a0003	a0003c0014 a0003c0014	a0003c0014t0005 a0003c0014t0005	a0003c0014t0005g0091 a0003c0014t0005g0091	1	306	0.0033	838	c.130 others(857): Show c.1308+1324_1308+1325insTTATATATTTATCTATAAATATATAA ATATTTATATATTTATCTATAAATATATAAATATTTATATATTTATAGAT AAATATATAAATATTTATATATTTATCTATAAATATATAAATATTTATAT ATTTATATATTTATCTATAAATATTTATATATTTATATATTTATCTATAA ATATATAAATATATATATATTTATATATTTATCTATAAATATATAAATAT TTATATATATATTTATCTATAAATATATAAATATTTATATATTTATATAT TTATCTATAAATATAAAAATATTTATATATTTATATATTTATCTATAAAT ATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACATTT ATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATAT TTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAAT ATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACATTT ATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATAT TTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAAT ATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACATTT ATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATAT TTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAAT ATAAAAATATTTATATATTTATCTATAAATATATAAATATTTATATATTT ATCTATAAATAT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABCB11_chr2_168915781_169036324	168975252	T T	TATATTTA others(831): Show TATATTTATAGATAAATATATAAATATTTATATATTTATAGATAAATATA TAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTATA GATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATTTT TATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTA TAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTATA GATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATTTT TATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTA TAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTATA GATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATTTT TATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTA TAAATATTTTTATATTTATAGATAAATATATAAATATATAAATATTTTTA TATTTATAGATAAATATATAAATATATAAATATTTATATATTTATAGATA AATATATATATATAAATATTTATATATTTATAGATAAATATATAAATATA TATATTTATATATTTATAGATAAATATATAAATATATAAATATTTATAGA TAAATATATAAATATATAAATATTTATATATTTATAGATAAATATATAAA TATTTATATATTTATCTATAAATATATAAATATTTATATATTTATAGATA AATATATAAATATTTATATATTTATAGATAAATATATAA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0003 a0003	a0003c0050 a0003c0050	a0003c0050t0009 a0003c0050t0009	a0003c0050t0009g0100 a0003c0050t0009g0100	1	306	0.0033	838	c.130 others(857): Show c.1308+1324_1308+1325insTTATATATTTATCTATAAATATATAA ATATTTATATATTTATCTATAAATATATAAATATTTATATATTTATAGAT AAATATATAAATATTTATATATTTATCTATAAATATATAAATATTTATAT ATTTATATATTTATCTATAAATATTTATATATTTATATATTTATCTATAA ATATATAAATATATATATTTATATATTTATCTATAAATATATAAATATTT ATATATATATATTTATCTATAAATATATAAATATTTATATATTTATATAT TTATCTATAAATATAAAAATATTTATATATTTATATATTTATCTATAAAT ATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACATTT ATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATAT TTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAAT ATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACATTT ATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATAT TTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAAT ATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACATTT ATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATAT TTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAAT ATAAAAATATTTATATATTTATCTATAAATATATAAATATTTATATATTT ATCTATAAATAT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABCC4_chr13_95014835_95306451	95025448	A A	AGACCCAT others(831): Show AGACCCATACACACACACACCAGACCCCCACACCCCCACACCCATACACA CACACCCACCCACCCACACCCACACCCACCACACACACCCACACCCCCAC ACACACCCTCCCACCCCCACACACACACATACCCCCACCACACACCCACA CACCCCCTCACACACCCACACCCACCACACACCCCCACCACACACCCACA TACACCCACACCCCCACCACACACCCATACACACACCCCCACATACTAAT ACACACACACTCCCACACCCTCCCACCCCCCCACACCCCCACCACACACC AATACACACCCACACACCCCCTCACACACACACCCACACACCCATACACA CACCCACCACACACCCATACATACAAACCCCCACACCCCCTCACACCCTC CCCCCACTCACCCATACACAACCCCCACCACACCCCCACACCCATACACA CACACACCCCCACCACACCCATACACACACCCCTGCACCCCCTCACACAC CCTCCCCCCACACACCCATACACACACCCCCACCACACCCCCACACCCAT ACACACACACACCCCCACCACACCCATACACACACCCCTGCACCCCCTCA CACACCCTCCCCCCCACACACCCATACACACACCCCCACACCCCCACCAC ACCCATACACACACACCCGTACCCCCTCACACCCTCCCCCCACACACCCA TCCCCACCACACACCCATACACACACACCCACACACACACCACACCCATA CACACACACCCCCACACCCCCACACACACCCTCCCTCACACACACCCCCA CCACACACCCATACACACCCCAACCCCCCCACACACACC	intron_variant intron_variant	MODIFIER	HG02257.hp2 NA18906.hp1 HG02257.hp2 NA18906.hp1	a0001 a0002 a0001 a0002	a0001c0025 a0002c0004 a0001c0025 a0002c0004	a0001c0025t0002 a0002c0004t0002 a0001c0025t0002 a0002c0004t0002	a0001c0025t0002g0075 a0002c0004t0002g0051 a0001c0025t0002g0075 a0002c0004t0002g0051	2	248	0.0081	838	c.387 others(857): Show c.3871-3767_3871-3766insGGTGTGTGTGGGGGGGTTGGGGTGTG TATGGGTGTGTGGTGGGGGTGTGTGTGAGGGAGGGTGTGTGTGGGGGTGT GGGGGTGTGTGTGTATGGGTGTGGTGTGTGTGTGGGTGTGTGTGTATGGG TGTGTGGTGGGGATGGGTGTGTGGGGGGAGGGTGTGAGGGGGTACGGGTG TGTGTGTATGGGTGTGGTGGGGGTGTGGGGGTGTGTGTATGGGTGTGTGG GGGGGAGGGTGTGTGAGGGGGTGCAGGGGTGTGTGTATGGGTGTGGTGGG GGTGTGTGTGTGTATGGGTGTGGGGGTGTGGTGGGGGTGTGTGTATGGGT GTGTGGGGGGAGGGTGTGTGAGGGGGTGCAGGGGTGTGTGTATGGGTGTG GTGGGGGTGTGTGTGTGTATGGGTGTGGGGGTGTGGTGGGGGTTGTGTAT GGGTGAGTGGGGGGAGGGTGTGAGGGGGTGTGGGGGTTTGTATGTATGGG TGTGTGGTGGGTGTGTGTATGGGTGTGTGGGTGTGTGTGTGAGGGGGTGT GTGGGTGTGTATTGGTGTGTGGTGGGGGTGTGGGGGGGTGGGAGGGTGTG GGAGTGTGTGTGTATTAGTATGTGGGGGTGTGTGTATGGGTGTGTGGTGG GGGTGTGGGTGTATGTGGGTGTGTGGTGGGGGTGTGTGGTGGGTGTGGGT GTGTGAGGGGGTGTGTGGGTGTGTGGTGGGGGTATGTGTGTGTGTGGGGG TGGGAGGGTGTGTGTGGGGGTGTGGGTGTGTGTGGTGGGTGTGGGTGTGG GTGGGTGGGTGTGTGTGTATGGGTGTGGGGGTGTGGGGGTCTGGTGTGTG TGTGTATGGGTC	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	30/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95025448	A A	AGACCCAT others(831): Show AGACCCATACACACACACACCAGACCCCCACACCCCCACACCCATACACA CACACCCACCCACCCACACCCACACCCACCACACACACCCACACCCCCAC ACACACCCTCCCACCCCCACACACACACATACCCCCACCACACACCCACA CACCCCCTCACACACCCACACCCACCACACACCCCCACCACACACCCACA TACACCCACACCCCCACCACACACCCATACACACACCCCCACATACTAAT ACACACACACTCCCACACCCTCCCACCCCCCCACACCCCCACCACACACC AATACACACCCACACACCCCCTCACACACACACCCACACACCCATACACA CACCCACCACACACCCATACATACAAACCCCCACACCCCCTCACACCCTC CCCCCACTCACCCATACACAACCCCCACCACACCCCCACACCCATACACA CACACCCCCACCACACCCATACACACACCCCTGCACCCCCTCACACACCC TCCCCCCTCACCCATACACAACCCCCACACCCCCACACCCATACACACAC ACACCCCCACCACACCCATACACACACCCCTGCACCCCCTCACACACCCT CCCCCCCACACACCCATACACACACCCCCACACCCCCACCACACCCATAC ACACACACCCGTACCCCCTCACACCCTCCCCCCACACACCCATCCCCACC ACACACCCATACACACACACCCACACACACACCACACCCATACACACACA CCCCCACACCCCCACACACACCCTCCCTCACACACACCCCCACCACACAC CCATACACACCCCAACCCCCCCCCACACACCCACACACC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0235 a0002c0005t0002g0235	1	248	0.0040	838	c.387 others(857): Show c.3871-3767_3871-3766insGGTGTGTGGGTGTGTGGGGGGGGGTT GGGGTGTGTATGGGTGTGTGGTGGGGGTGTGTGTGAGGGAGGGTGTGTGT GGGGGTGTGGGGGTGTGTGTGTATGGGTGTGGTGTGTGTGTGGGTGTGTG TGTATGGGTGTGTGGTGGGGATGGGTGTGTGGGGGGAGGGTGTGAGGGGG TACGGGTGTGTGTGTATGGGTGTGGTGGGGGTGTGGGGGTGTGTGTATGG GTGTGTGGGGGGGAGGGTGTGTGAGGGGGTGCAGGGGTGTGTGTATGGGT GTGGTGGGGGTGTGTGTGTGTATGGGTGTGGGGGTGTGGGGGTTGTGTAT GGGTGAGGGGGGAGGGTGTGTGAGGGGGTGCAGGGGTGTGTGTATGGGTG TGGTGGGGGTGTGTGTGTATGGGTGTGGGGGTGTGGTGGGGGTTGTGTAT GGGTGAGTGGGGGGAGGGTGTGAGGGGGTGTGGGGGTTTGTATGTATGGG TGTGTGGTGGGTGTGTGTATGGGTGTGTGGGTGTGTGTGTGAGGGGGTGT GTGGGTGTGTATTGGTGTGTGGTGGGGGTGTGGGGGGGTGGGAGGGTGTG GGAGTGTGTGTGTATTAGTATGTGGGGGTGTGTGTATGGGTGTGTGGTGG GGGTGTGGGTGTATGTGGGTGTGTGGTGGGGGTGTGTGGTGGGTGTGGGT GTGTGAGGGGGTGTGTGGGTGTGTGGTGGGGGTATGTGTGTGTGTGGGGG TGGGAGGGTGTGTGTGGGGGTGTGGGTGTGTGTGGTGGGTGTGGGTGTGG GTGGGTGGGTGTGTGTGTATGGGTGTGGGGGTGTGGGGGTCTGGTGTGTG TGTGTATGGGTC	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	30/30			chr13	TogoVar
ACAP3_chr1_1287391_1312930	1289615	T T	TCCCCCGT others(831): Show TCCCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGT CTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGT CTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCC GTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCT CTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTC CCCCGTGTCCCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCCCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGT GTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCCCCG TCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGT CTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	295	0.0034	838	c.39 others(849): Show c.3948_*3949insGGACGGAGCAGAGACACGGGGGACGGAGCAGAGA CACGGGACGGAGCAGGGACACGGGACGGAGCAGAGACACGGGGGACGGAG CAGAGACACGGGGGACGGGGCAGAGACACGGGGGACGGGGCAGAGACACG GGGGACGGGGCAGAGACACGGGGGACGGAGCAGGGACACGGGACGGAGCA GGGACACGGGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGAC GGAGCAGGGACACGGGACGGAGCAGGGACACGGGGGACGGAGCAGGGACA CGGGGGACGGAGCAGAGACACGGGGGACGGGGCAGAGACACGGGGGACGG GGCAGAGACACGGGGGACGGGGCAGAGACACGGGACGGAGCAGAGACACG GGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGGGACGGAGCAGG GACACGGGACGGGGCAGAGACACGGGACGGGGCAGAGACACGGGACGGGG CAGAGACACGGGACGGGGCAGAGACACGGGGGACGGAGCAGAGACACGGG ACGGAGCAGGGACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACA CGGGACGGAGCAGAGACACGGGGGACGGAGCAGAGACACGGGGGACGGGG CAGAGACACGGGGGACGGGGCAGAGACACGGGGGACGGAGCAGAGACACG GGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGA GACACGGGACGGAGCAGGGACACGGGACGGAGCAGAGACACGGGACGGAG CAGAGACACGGGGGACGGAGCAGAGACACGGGGGACGGAGCAGGGACACG GGGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2775		chr1	TogoVar
ARHGEF16_chr1_3449665_3486113	3477306	A A	ACCCCCAC others(831): Show ACCCCCACACTACCCACCCCCATCACCCCACAACCCACCCCCATCACCCC CACACTACCCACCCCCATCACCCCACACTACCCACCCCATCACCCCCACA CTACCCACCCCCATCACCCCCACACTACCCACCCCATCACCCCACACTAC CCATCCCCATCACCCCCCACACTACCCACCCCCATCACCCCACACTACCC ACCCCATCACCCCCACACTACCCACCCCCATCACCCTCACTACCCATCAC CCGCACACTACCCACCCCCATCACCCCCACACTACCCACCCCATCACCCC ACACTACCCATCCCCATCACCCCCACACTACCCACCCCCATCACCCCACA CTACCCACCCCATCACCCCCACACTACCCACCCCCATCACCCTCACTACC CATCACCCCCACACTACCCACCCCCATCACCCCACACTACCCACCCCCAT CACCCCCACACTACCCACCCCCATCACCCCACACTACCCACCCCATCACC CCCACACTACCCACCCCCATCACCCTCACTACCCATCACCCGCACACTAC CCACCCCATCACCCGCACACTACCCACCCCATCACCCGCACACTACCCAG GCCCATCACCCCGCTACCCACCCCATCACCCCCACACTACCCACCCCATC ACCCCCACGCCACCCACCCCATCACCCCCACGCCGCCCACCCCATCACCC CCACGCCACCCACCCCATCACCCCCACGCCGCCCACCCCCATCACCCCCA CGCCGCCCACACCCCATCACCCCCACGCCGCCCACCCCATCACCCCCACG CCGCCCACCCCATCACCCCCACGCCGCCCACCCCATCAC	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0003 a0003	a0003c0015 a0003c0015	a0003c0015t0002 a0003c0015t0002	a0003c0015t0002g0069 a0003c0015t0002g0069	1	334	0.0030	838	c.147 others(855): Show c.1474-550_1474-549insCATCACCCCACAACCCACCCCCATCACC CCCACACTACCCACCCCCATCACCCCACACTACCCACCCCATCACCCCCA CACTACCCACCCCCATCACCCCCACACTACCCACCCCATCACCCCACACT ACCCATCCCCATCACCCCCCACACTACCCACCCCCATCACCCCACACTAC CCACCCCATCACCCCCACACTACCCACCCCCATCACCCTCACTACCCATC ACCCGCACACTACCCACCCCCATCACCCCCACACTACCCACCCCATCACC CCACACTACCCATCCCCATCACCCCCACACTACCCACCCCCATCACCCCA CACTACCCACCCCATCACCCCCACACTACCCACCCCCATCACCCTCACTA CCCATCACCCCCACACTACCCACCCCCATCACCCCACACTACCCACCCCC ATCACCCCCACACTACCCACCCCCATCACCCCACACTACCCACCCCATCA CCCCCACACTACCCACCCCCATCACCCTCACTACCCATCACCCGCACACT ACCCACCCCATCACCCGCACACTACCCACCCCATCACCCGCACACTACCC AGGCCCATCACCCCGCTACCCACCCCATCACCCCCACACTACCCACCCCA TCACCCCCACGCCACCCACCCCATCACCCCCACGCCGCCCACCCCATCAC CCCCACGCCACCCACCCCATCACCCCCACGCCGCCCACCCCCATCACCCC CACGCCGCCCACACCCCATCACCCCCACGCCGCCCACCCCATCACCCCCA CGCCGCCCACCCCATCACCCCCACGCCGCCCACCCCATCACCCCCCACAC TACCCACCCC	ARHGEF16	ENSG00000130762.15	transcript	ENST00000378378.9	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
ARHGEF7_chr13_111110310_111310732	111221356	T T	TATATATC others(831): Show TATATATCTATATAGATATATATGTCTATATATATCTATATAGATATATA TGTCTATATATATCTATATAGATATATATGTCTATATATATCTATATAGA TATATATGTCTATATATATCTATATAGATATATATGTCTATATATATCTA TATAGATATATATGTCTATATATATCTATATAGATATATATGTCTATATA TATCTATATAGATATATATGTCTATATATATCTATATAGATATATATGTC TATATATATCTATATAGATATATATGTCTATATATATCTATATAGATATA TATGTCTATATATATCTATATAGATATATATGTCTATATATATCTATATA GATATATATGTCTATATATATCTATATAGATATATATGTCTATATATATC TATATAGATATATATGTCTATATATATCTATATAGATATATATGTCTATA TATATCTATATAGATATATATGTCTATATATATCTATATAGATATATATG TCTATATATATCTATATAGATATATATGTCTATATATATCTATATAGATA TATATGTCTATATATATCTATATAGATATATATGTCTATATATATCTATA TAGATATATATGTCTATATATATCTATATATATCTATATAGATATATATG TCTATATATATCTATATATATCTATATAGATATATATGTCTATATATATC TATATAGATATATATGTCTATATATATCTATATATAGATATATATGTCTA TATATATCTATATATAGATATATATAGACATATATATCTATATATAGATA TATATAGACATATATGTCTATATATAGATATATATAGAC	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0171 a0001c0001t0009g0171	1	274	0.0037	838	c.670 others(855): Show c.670+3482_670+3483insCTATATAGATATATATGTCTATATATAT CTATATAGATATATATGTCTATATATATCTATATAGATATATATGTCTAT ATATATCTATATAGATATATATGTCTATATATATCTATATAGATATATAT GTCTATATATATCTATATAGATATATATGTCTATATATATCTATATAGAT ATATATGTCTATATATATCTATATAGATATATATGTCTATATATATCTAT ATAGATATATATGTCTATATATATCTATATAGATATATATGTCTATATAT ATCTATATAGATATATATGTCTATATATATCTATATAGATATATATGTCT ATATATATCTATATAGATATATATGTCTATATATATCTATATAGATATAT ATGTCTATATATATCTATATAGATATATATGTCTATATATATCTATATAG ATATATATGTCTATATATATCTATATAGATATATATGTCTATATATATCT ATATAGATATATATGTCTATATATATCTATATAGATATATATGTCTATAT ATATCTATATAGATATATATGTCTATATATATCTATATAGATATATATGT CTATATATATCTATATAGATATATATGTCTATATATATCTATATATATCT ATATAGATATATATGTCTATATATATCTATATATATCTATATAGATATAT ATGTCTATATATATCTATATAGATATATATGTCTATATATATCTATATAT AGATATATATGTCTATATATATCTATATATAGATATATATAGACATATAT ATCTATATATAGATATATATAGACATATATGTCTATATATAGATATATAT AGACATATAT	ARHGEF7	ENSG00000102606.20	transcript	ENST00000646102.2	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr13	TogoVar
ASB9_chrX_15238987_15275083	15267555	T T	TAACATGG others(831): Show TAACATGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAAAAAAAAATT AGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCAGTGAACCGAGA TCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACACTGTCTCAAA AATAAAAAAGAAAAAAGAAAAGAAAAAGAAACCCTGAACAGTGAATAGTG GCTGGTGCCTCTCTCCCATGTGGAAACAAAAATAAATACAATACTTAGCT ATAAAATAACGGTGCAGAAGTCAACCAAATTACCGATTCTTTCCCATAAT GATTGGTTTGCTACTTTAAAAATATATTTATCGGCTGGGCACGGTGGCTC ACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGCAGACTTCCCTG AGCTCAAGAGTTGGAGACCAGCCTGGGCAACATGGTGAAACCCCGTCTCT ACTAAAATACAAAAAAAAAAAAAAAAAATTAGCCAGGCGTGTGCCTGTAG TCCCACCTAGTCCCTGCCTCTCCCTCCTGAGGCAGAATTGCTTGAACCCA GGAGGCTGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCCTG GTAACAGAGTGAGACTCCGTTTAAAAAAAAAGAATATATATTAAAAAAAA AAAAAAAAAATACATATATATATTTAAAATTCCTTGTAAAAAGTGGCTGG GCGTGGTGGCCCACACCTGTAATCCCAGCACTTTGGGAGGCCAAAGGAGG CCAATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCC	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0270 a0001c0001t0020g0270	1	336	0.0030	838	c.94+ others(853): Show c.94+2225_94+2226insGGCCAGGCTGGTCTTGAACTCCTGACCTCA AGTGATTGGCCTCCTTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGGG CCACCACGCCCAGCCACTTTTTACAAGGAATTTTAAATATATATATGTAT TTTTTTTTTTTTTTTTTAATATATATTCTTTTTTTTTAAACGGAGTCTCA CTCTGTTACCAGGCTGGAGTGCAGTGGCACCATCTCGGCTCACTGCAACC TCAGCCTCCTGGGTTCAAGCAATTCTGCCTCAGGAGGGAGAGGCAGGGAC TAGGTGGGACTACAGGCACACGCCTGGCTAATTTTTTTTTTTTTTTTTTG TATTTTAGTAGAGACGGGGTTTCACCATGTTGCCCAGGCTGGTCTCCAAC TCTTGAGCTCAGGGAAGTCTGCCCGCCTCGGCCTCCCAAAGTGCTAGGAT TACAGGTGTGAGCCACCGTGCCCAGCCGATAAATATATTTTTAAAGTAGC AAACCAATCATTATGGGAAAGAATCGGTAATTTGGTTGACTTCTGCACCG TTATTTTATAGCTAAGTATTGTATTTATTTTTGTTTCCACATGGGAGAGA GGCACCAGCCACTATTCACTGTTCAGGGTTTCTTTTTCTTTTCTTTTTTC TTTTTTATTTTTGAGACAGTGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA GTGGCACGATCTCGGTTCACTGCAAGCTCCGCCTCTCGGGTTCACGCCAT TCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCA CGCCCGGCTAATTTTTTTTTTTTTGTATTTTTTAGTAGAGACGGGGTTTC ACCATGTT	ASB9	ENSG00000102048.16	transcript	ENST00000380488.9	protein_coding	1/6			chrX	TogoVar
BBS4_chr15_72681207_72743473	72692693	T T	TAAGAGAT others(831): Show TAAGAGATCCTCCCAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGG GAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGTCAGCCGCCCCGTCCCGGAGGGAGGTTGGGGGGTCAGCCCCCC GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCC TGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCC GCCCCTACTGGGAAGTGAGGAGCACCTCTGTCCGGCCACCACCCCGTCTG GGAGGTGTGCCCAACAGCTCATTGAGAACGGGCCAGGATGACAATGGCGG CTTTGTGGAATAGAAAGGCGGGAAAGGTGGGGAAAAGATTGAGAAATCGG ATGGTTGCCGTGTCTGTGTAGAAAGAAGTAGACATGGGAGACTTTTCATT TTGTTCTGCACTAAGAAAAATTCCTCTGCCTTGGGATCCTGTTGATCTGT GACCTTACCCCCAACCCTGTGCTCTCTGAAACATGTGCTGTGTCCACTCA GGGTTAAATGGATTAAGGGCGGTGCAAGATGTGCTTTGTTAAACAGATGC TTGAAGGCAGCATGCTCGTTAAGAGTCATCACCAATCCCTAATCTCAAGT AATCAGGGACACAAACACTGCGGAAGGCCGCAGGGTCCTCTGCCTAGGAA AACCAGAGACCTTTGTTCACTTGTTTATCTGCTGACCTTCCCTCCACTAT TGTCCCATGACCCTGCCAAATCCCCCTCTGTGAGAAACACCCAAGAATTA TCAATAAAAAAATAAATTTAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0053 a0001c0007t0001g0053	1	398	0.0025	838	c.25- others(853): Show c.25-2470_25-2469insGGTGAGGGGCGCCTCTGCCCGGCCGCCCCT ACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGG GAGGTGGGGGGGTCAGCCGCCCCGTCCCGGAGGGAGGTTGGGGGGTCAGC CCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGC CCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCC CGGCCGCCCCTACTGGGAAGTGAGGAGCACCTCTGTCCGGCCACCACCCC GTCTGGGAGGTGTGCCCAACAGCTCATTGAGAACGGGCCAGGATGACAAT GGCGGCTTTGTGGAATAGAAAGGCGGGAAAGGTGGGGAAAAGATTGAGAA ATCGGATGGTTGCCGTGTCTGTGTAGAAAGAAGTAGACATGGGAGACTTT TCATTTTGTTCTGCACTAAGAAAAATTCCTCTGCCTTGGGATCCTGTTGA TCTGTGACCTTACCCCCAACCCTGTGCTCTCTGAAACATGTGCTGTGTCC ACTCAGGGTTAAATGGATTAAGGGCGGTGCAAGATGTGCTTTGTTAAACA GATGCTTGAAGGCAGCATGCTCGTTAAGAGTCATCACCAATCCCTAATCT CAAGTAATCAGGGACACAAACACTGCGGAAGGCCGCAGGGTCCTCTGCCT AGGAAAACCAGAGACCTTTGTTCACTTGTTTATCTGCTGACCTTCCCTCC ACTATTGTCCCATGACCCTGCCAAATCCCCCTCTGTGAGAAACACCCAAG AATTATCAATAAAAAAATAAATTTAAAAAAAAAAAAAAAAAAAAAAGAGA TCCTCCCA	BBS4	ENSG00000140463.14	transcript	ENST00000268057.9	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr15	TogoVar
BCCIP_chr10_125818546_125841551	125824766	G G	GCCTCTGC others(831): Show GCCTCTGCTTAGATTGCTGCATTGGCTTTCTAGTTCATTTACAAGAAAAT CAAGAGTCTTCACAATTGAGGGACGGAAAGGCAGCCTAGATGGCTGGATC AGAATAAGGAAGAGAGAGTGATAGGAAATAAAATCAGAGAGGTAATCATG AGTCATGATGAGCATGGAGGGGAGCATGGAGAGAAGCATGGATGCAGGAT TAGAGGTGACACCATGGTGTGGGTATGTGATCAATCTTCCTTCCCTTACA AATTTTACTTTGGCTCTATGCCTTGAATGCCATCTCACCATTTTTCACTT AGAACTTTGACTGGCTCTTTTATTACTTTTGGGTTATAGAAATCAATGCT GCTTGTGTTAACATGGGAAATCTATCACACCACCACAGTCTTAATTCTAA ATCACCTGGGAATGAGGGACCCTCTGCTTAGATTGCTGCATTGGCTTTCT AGTTCATTTACAAGAAAATCAAGAGTCTTCACAATTGAGGGACGGAAAGG CAGCCTAGATGGCTGGATCAGAATAAGGAAGAGAGAGTGATAGGAAATAA AATCAGAGAGGTAATCATGAGTCATGATGAGCATGGAGGGGAGCATGGAG AGAAGCATGGATGCAGGATTAGAGGTGACACCATGGTGTGGGTATGTGAT CAATCTTCCTTCCCTTACAAATTTTACTTTGGCTCTATGCCTTGAATGCC ATCTCACCATTTTTCACTTAGAACTTTGACTGGCTCTTTTATTACTTTTG GGTTATAGAAATCAATGCTGCTTGTGTTAACATGGGAAATCTATCACACC ACCACAGTCTTAATTCTAAATCACCTGGGAATGAGGGAC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02615.hp1 HG02622.hp2 others(4): Show HG02145.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp2 HG02886.hp2 HG03209.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0053 a0001c0001t0002g0166 a0001c0001t0002g0167 others(3): Show a0001c0001t0002g0053 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170	7	446	0.0157	838	c.166 others(855): Show c.166-1406_166-1405insCCTCTGCTTAGATTGCTGCATTGGCTTT CTAGTTCATTTACAAGAAAATCAAGAGTCTTCACAATTGAGGGACGGAAA GGCAGCCTAGATGGCTGGATCAGAATAAGGAAGAGAGAGTGATAGGAAAT AAAATCAGAGAGGTAATCATGAGTCATGATGAGCATGGAGGGGAGCATGG AGAGAAGCATGGATGCAGGATTAGAGGTGACACCATGGTGTGGGTATGTG ATCAATCTTCCTTCCCTTACAAATTTTACTTTGGCTCTATGCCTTGAATG CCATCTCACCATTTTTCACTTAGAACTTTGACTGGCTCTTTTATTACTTT TGGGTTATAGAAATCAATGCTGCTTGTGTTAACATGGGAAATCTATCACA CCACCACAGTCTTAATTCTAAATCACCTGGGAATGAGGGACCCTCTGCTT AGATTGCTGCATTGGCTTTCTAGTTCATTTACAAGAAAATCAAGAGTCTT CACAATTGAGGGACGGAAAGGCAGCCTAGATGGCTGGATCAGAATAAGGA AGAGAGAGTGATAGGAAATAAAATCAGAGAGGTAATCATGAGTCATGATG AGCATGGAGGGGAGCATGGAGAGAAGCATGGATGCAGGATTAGAGGTGAC ACCATGGTGTGGGTATGTGATCAATCTTCCTTCCCTTACAAATTTTACTT TGGCTCTATGCCTTGAATGCCATCTCACCATTTTTCACTTAGAACTTTGA CTGGCTCTTTTATTACTTTTGGGTTATAGAAATCAATGCTGCTTGTGTTA ACATGGGAAATCTATCACACCACCACAGTCTTAATTCTAAATCACCTGGG AATGAGGGAC	BCCIP	ENSG00000107949.17	transcript	ENST00000278100.11	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
BIRC7_chr20_63230905_63245495	63235393	T T	TGGGGGAA others(831): Show TGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAAGAGGGGGGAGGGG GAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGGGGGAGGGGGAA GGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGTGGGGAAGAGGAGGA GGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGG GAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGA GGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGG GGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGG GAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAA GGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGAAGG GGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGG AAGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAA GGGGGAGCGGGAGGAGGAAGGGGAAGACGGAGGAGGAGGAAGGGGAAGGG GAGTGGGAGGAGGAAGGGGAAGAAGGAGGAGGAAGGGGGGAAGGGGGAGC GGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGCGG GAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGCAGTGGGA GGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGTGGGAGG AGGAAGGGGAAGAAGGAGGGGGAAGTGGGGAAGGGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG01258.hp1 HG02004.hp2 others(1): Show HG01243.hp1 HG01258.hp1 HG02004.hp2 NA19065.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0013 a0001c0002t0001g0002 a0001c0002t0001g0013	4	300	0.0133	838	c.-70 others(847): Show c.-704_-703insGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAA GAGGGGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAA GGGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGTG GGGAAGAGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGG AGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAG GGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGG GGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGG AAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGAA GGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGA GGAAGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGG AAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGG AGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGACGGAGGAGGA GGAAGGGGAAGGGGAGTGGGAGGAGGAAGGGGAAGAAGGAGGAGGAAGGG GGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGG GAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGA AGGGGCAGTGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAG GGGGAGTGGGAGGAGGAAGGGGAAGAAGGAGGGGGAAGTGGGGAAGGGGA AG	BIRC7	ENSG00000101197.13	transcript	ENST00000217169.8	protein_coding		511		chr20	TogoVar
BOK_chr2_241553745_241579131	241570995	G G	GGGGGGTG others(831): Show GGGGGGTGGGAGAGCTGGGGTGCGAGGGTACAGACGTACGGGAGGGAGTG GCGGATGGGTGAGTGTCTGAGCGCCTGTGGGGGTGGGAGAGCTGGGGTGC GAGGGTACAGAGGTACGGGAGGGAGTGGCGGATGGGTGAGTGTCTGAGCG CCTGGGGGGTGGGAGAGCTGGGGTGCGAGGGTACAGACGTACGGGAGGGA GTGGCGGATGGGTGAGTGTCTGAGCGCCTGTGGGGGTGGGAGAGCTGGGG TGCGAGGGTACAGAGGTACGGGAGGGAGTGGCGGATGGGTGAGTGTCTGA GCGCCTGTGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTACGGGA GGGAGTGGCGGATGGGTGAGTGTCTGAGCGCCTGGGGGGTGGGAGAGCTG GGGTGCGAGGGTGCAGAGGTACGGGAGGGAGTGGCGGATGGGTGAGCCTC TGAGCGCCTGGGGGGTGGGAGAGCTGGGGTGCGAGGGTACAGACGTACGG GAGGGAGTGGCGGATGGGTGAGTGTCTGAGCGCCTGGGGGGTGGGAGAGC TGGGGTGCGAGGGTACAGACGTACGGGAGGGAGTGGCGGATGGGTGAGTG TCTGAGCGCCTGGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTAC GGGAGGGAGTGGCGGATGGGTGAGCCTCTGAGCGCCTGGGGGGTGGGAGA GCTGGGGTGCGAGGGTACAGACGTACGGGAGGGAGTGGCGGATGGGTGAG TGTCTGAGCGCCTGGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGT ACGGGAGGGAGTGGCGGATGGGTGAGCCTCTGAGCGCCT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0179 a0001c0002t0012g0179	1	434	0.0023	838	c.513 others(853): Show c.513+707_513+708insGGGGGTGGGAGAGCTGGGGTGCGAGGGTAC AGACGTACGGGAGGGAGTGGCGGATGGGTGAGTGTCTGAGCGCCTGTGGG GGTGGGAGAGCTGGGGTGCGAGGGTACAGAGGTACGGGAGGGAGTGGCGG ATGGGTGAGTGTCTGAGCGCCTGGGGGGTGGGAGAGCTGGGGTGCGAGGG TACAGACGTACGGGAGGGAGTGGCGGATGGGTGAGTGTCTGAGCGCCTGT GGGGGTGGGAGAGCTGGGGTGCGAGGGTACAGAGGTACGGGAGGGAGTGG CGGATGGGTGAGTGTCTGAGCGCCTGTGGGGGTGGGAGAGCTGGGGTGCG AGGGTGCAGAGGTACGGGAGGGAGTGGCGGATGGGTGAGTGTCTGAGCGC CTGGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTACGGGAGGGAG TGGCGGATGGGTGAGCCTCTGAGCGCCTGGGGGGTGGGAGAGCTGGGGTG CGAGGGTACAGACGTACGGGAGGGAGTGGCGGATGGGTGAGTGTCTGAGC GCCTGGGGGGTGGGAGAGCTGGGGTGCGAGGGTACAGACGTACGGGAGGG AGTGGCGGATGGGTGAGTGTCTGAGCGCCTGGGGGGTGGGAGAGCTGGGG TGCGAGGGTGCAGAGGTACGGGAGGGAGTGGCGGATGGGTGAGCCTCTGA GCGCCTGGGGGGTGGGAGAGCTGGGGTGCGAGGGTACAGACGTACGGGAG GGAGTGGCGGATGGGTGAGTGTCTGAGCGCCTGGGGGGTGGGAGAGCTGG GGTGCGAGGGTGCAGAGGTACGGGAGGGAGTGGCGGATGGGTGAGCCTCT GAGCGCCT	BOK	ENSG00000176720.6	transcript	ENST00000318407.5	protein_coding	4/4			chr2	TogoVar
C20orf96_chr20_265863_295750	279069	A A	AGGGAGGG others(831): Show AGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAG GGAGGGACGGAGGGCGGGACGGCGGGAGGGCGGGACGGAGGGACGGAGGG AGGGCGGGACGGAGGGCGGGAGGGCGGGACGGAGGGACGGAGGGAGGGAG GGCGGGACGGAGGGAGGGAGGGCGGGACGGAGGGACGGAGGGAGGGAGGG CGGGACGGAGGGAGGGAGGGAGGGACGGAGGGCGGGACGGCGGGGAGGGC GGGACGGAGGGACGGAGGGAGGGCGGGACGGAGGGCGGGAGGGAGGGAGG GCGGGACGGAGGGAGGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGA GGGAGGGACGGAGGGACGGAGGGAGGGAGGGAGGGAGGGACGGAGGGCGG GACGGAGGGAGGGAGGGCGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAG GGAGGGACGGAGGGAGGGAGGGCGGGAGGGCGGGACGGAGGGAGGGCGGG AGGGAGGGACGGAGGGACGGAGGGAGGGAGGGAGGGAGGGACGGAGGGCG GGACGGAGGGAGGGAGGGCGGAGGGAGGGAGGGCGGGACGGAGGGAGGGA GGGCGGGACGGAGGGAGGGAGGGCGGGAGGGCGGGACGGAGGGAGGGCGG GAGGGAGGGACGGAGGGCGGGACGGAGGGACGGAGGGAGGGAGGGAGGGA CGGAGGGACGGAGGGAGGGAGGGAGGGAGGGACGGAGGGCGGGACGGAGG GAGGGAGGGCGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGCGGGAC GGAGGGAGGGAGGGCGGGAGGGCGGGACGGAGGGAGGGC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0148 a0002c0002t0001g0148	1	410	0.0024	838	c.465 others(853): Show c.465+102_465+103insGCCCTCCCTCCGTCCCGCCCTCCCGCCCTC CCTCCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCG CCCTCCCTCCCTCCGTCCCGCCCTCCGTCCCTCCCTCCCTCCCTCCCTCC GTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCGT CCCTCCCTCCCGCCCTCCCTCCGTCCCGCCCTCCCGCCCTCCCTCCCTCC GTCCCGCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGCCCTCCCTC CCTCCGTCCCGCCCTCCGTCCCTCCCTCCCTCCCTCCCTCCGTCCCTCCG TCCCTCCCTCCCGCCCTCCCTCCGTCCCGCCCTCCCGCCCTCCCTCCCTC CGTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGCCCTCCCT CCCTCCGTCCCGCCCTCCGTCCCTCCCTCCCTCCCTCCCTCCGTCCCTCC GTCCCTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCCTCCCT CCGTCCCGCCCTCCCTCCCTCCCGCCCTCCGTCCCGCCCTCCCTCCGTCC CTCCGTCCCGCCCTCCCCGCCGTCCCGCCCTCCGTCCCTCCCTCCCTCCC TCCGTCCCGCCCTCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCTCCCTC CGTCCCGCCCTCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCGCCCTCCG TCCCGCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCGCCGTCCCGCCCTC CGTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCGCCC TCCCTCCC	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
CACNA1H_chr16_1148106_1226768	1185658	A A	ATAGGGCC others(831): Show ATAGGGCCGGGGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCA TGCATAGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGT AGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTGCGT AGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGT AGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGG GCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGG GCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGT AGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTGCGT AGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCATGTGT AGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGG GCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGG GCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGTCGGCGTGCGT AGGGGCCGGAGGCGTGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGGCG GGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGA GGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCGTGCGTAGGGGCCGGA GGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCATAGGGGC CGAAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCG	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	338	0.0030	838	c.300 others(855): Show c.300-9309_300-9308insCCGGGGGCGGGGTGTGTACGGGGCGGGT GAGTAGACGGTCGGCATGCATAGGGCCGGAGGCGGGGTGTGTACGGGGCG GGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTG AGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTG AGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTG AGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTA GACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTA GACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTG AGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTG AGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTG AGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTA GACGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTA GACGGTCGGCGTGCGTAGGGGCCGGAGGCGTGGTGTGTACGGGGCGGGTG AGTAGACGGTCGGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGC GTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGC GTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGT CGGCGTGCATAGGGGCCGAAGGCGGGGTGTGTACGGGGCGGGTGAGTAGA CGGCGTAGGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(831): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGG AGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAA ATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATA AAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCT ATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAAT TGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGT ACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAAATATC CTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTGGACA TGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGG AGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGA ATTATACGTTAAACAATAAGTCGTATTTATTGAACCTCCATAGATATATA TGTATGCTATAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGATATA AATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAATACAT CCATACTACATATATATATATATATATATATATATATATATATATATATA TATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTGGTTTTTTG TTTTTTGAGATGAAGTCTCGCTCTGTCGCCCATGCTGGA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0294 a0001c0001t0002g0294	1	336	0.0030	838	c.248 others(855): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGG GAGGGAGGGAGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTC TTAAGGCAAAGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACAT TCAGATCGTTATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAA GAGACAAAATTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACA AAATGGGGAAAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAG ATGAGGGACAAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGA TTCCTTAAATATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAA TACTTGGTGGACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAA TGATGGAGTTTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAG TAATTAAGAAGGAATTATACGTTAAACAATAAGTCGTATTTATTGAACCT CCATAGATATATATGTATGCTATAAGCCAAAAAAATAAACAGATTCAAAT AATTTTAGATATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTC ATGGGCAATACATCCATACTACATATATATATATATATATATATATATAT ATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTT TTTTGGTTTTTTGTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCATGCTG GAGTGCAGTG	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(831): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGG AGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAA ATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATA AAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCT ATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAAT TGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGT ACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAAATATC CTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTGGACA TGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGG AGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGA ATTATACGTTAAACAATAAGTCGTATTTATTGAACCTCCATAGATATATA TGTATGCTATAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGATATA AATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAATACAT CCATACTACATATATATATATATATATATATATATATATATATATATATA TATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTGGTTTTTTG TTTTTTGAGATGAAGTCTCGCTCTGTCGCCCATGCTGGA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0285 a0001c0001t0023g0285	1	336	0.0030	838	c.248 others(855): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGG GAGGGAGGGAGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTC TTAAGGCAAAGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACAT TCAGATCGTTATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAA GAGACAAAATTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACA AAATGGGGAAAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAG ATGAGGGACAAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGA TTCCTTAAATATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAA TACTTGGTGGACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAA TGATGGAGTTTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAG TAATTAAGAAGGAATTATACGTTAAACAATAAGTCGTATTTATTGAACCT CCATAGATATATATGTATGCTATAAGCCAAAAAAATAAACAGATTCAAAT AATTTTAGATATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTC ATGGGCAATACATCCATACTACATATATATATATATATATATATATATAT ATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTT TTTTGGTTTTTTGTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCATGCTG GAGTGCAGTG	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(831): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGG AGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAA ATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATA AAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCT ATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAAT TGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGT ACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAAATATC CTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTGGACA TGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGG AGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGA ATTATACGTTAAACAATAAGTCGTATTTATTGAACCTCCATAGATATATA TGTATGCTATAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGATATA AATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAATACAT CCATACTACATATATATATATATATATATATATATATATATATATATATA TATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTTTTTTG TTTTTTGAGATGAAGTCTCGCTCTGTCGCCCATGCTGGA	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0296 a0001c0001t0004g0296	1	336	0.0030	838	c.248 others(855): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGG GAGGGAGGGAGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTC TTAAGGCAAAGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACAT TCAGATCGTTATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAA GAGACAAAATTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACA AAATGGGGAAAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAG ATGAGGGACAAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGA TTCCTTAAATATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAA TACTTGGTGGACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAA TGATGGAGTTTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAG TAATTAAGAAGGAATTATACGTTAAACAATAAGTCGTATTTATTGAACCT CCATAGATATATATGTATGCTATAAGCCAAAAAAATAAACAGATTCAAAT AATTTTAGATATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTC ATGGGCAATACATCCATACTACATATATATATATATATATATATATATAT ATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTT TTTTGGTTTTTTGTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCATGCTG GAGTGCAGTG	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(831): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGG AGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAA ATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATA AAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCT ATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAAT TGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGT ACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAAATATC CTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTGGACA TGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGG AGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGA ATTATACGTTAAACAATAAGTCGTATTTATTGAACCTCCATAGATATATA TGTATGCTATAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGATATA AATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAATACAT CCATACTACATATATATATATATATATATATATATATATATATATATATA TATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTTTTTTG TTTTTTGAGATGAAGTCTCGCTCTGTCGCCCATGCTGGA	intron_variant intron_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0184 a0001c0001t0002g0184	1	336	0.0030	838	c.248 others(855): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGG GAGGGAGGGAGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTC TTAAGGCAAAGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACAT TCAGATCGTTATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAA GAGACAAAATTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACA AAATGGGGAAAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAG ATGAGGGACAAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGA TTCCTTAAATATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAA TACTTGGTGGACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAA TGATGGAGTTTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAG TAATTAAGAAGGAATTATACGTTAAACAATAAGTCGTATTTATTGAACCT CCATAGATATATATGTATGCTATAAGCCAAAAAAATAAACAGATTCAAAT AATTTTAGATATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTC ATGGGCAATACATCCATACTACATATATATATATATATATATATATATAT ATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTGGTTTTTTGTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCATGCTG GAGTGCAGTG	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(831): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGG AGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAA ATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATA AAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCT ATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAAT TGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGT ACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAAATATC CTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTGGACA TGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGG AGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGA ATTATACGTTAAACAATAAGTCGTATTTATTGAACCTCCATAGATATATA TGTATGCTATAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGATATA AATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAATACAT CCATACTACATATATATATATATATATATATATATATATATATATATATA TATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTTTTTTG TTTTTTGAGATGAAGTCTCGCTCTGTCGCCCATGCTGGA	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0186 a0001c0001t0056g0186	1	336	0.0030	838	c.248 others(855): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGG GAGGGAGGGAGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTC TTAAGGCAAAGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACAT TCAGATCGTTATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAA GAGACAAAATTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACA AAATGGGGAAAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAG ATGAGGGACAAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGA TTCCTTAAATATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAA TACTTGGTGGACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAA TGATGGAGTTTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAG TAATTAAGAAGGAATTATACGTTAAACAATAAGTCGTATTTATTGAACCT CCATAGATATATATGTATGCTATAAGCCAAAAAAATAAACAGATTCAAAT AATTTTAGATATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTC ATGGGCAATACATCCATACTACATATATATATATATATATATATATATAT ATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTGGTTTTTTGTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCATGCTG GAGTGCAGTG	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(831): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGG AGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAA AGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGT TATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAA TTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGA AAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGAC AAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAAA TATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTG GACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGT TTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGA AGGAATTATACGTTAAACAATAAGTCGTATTTATTGAACCTCCATAGATA TATATGTATGCTATAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGA TATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAAT ACATCCATACTACATATATATATATATATATATATATATATATATATATA TATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTTTTTTG TTTTTTGAGATGAAGTCTCGCTCTGTCGCCCATGCTGGA	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0254 a0001c0001t0004g0254	1	336	0.0030	838	c.248 others(855): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGG GAGGGAGGGAGGGAGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAA CTTCTTAAGGCAAAGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGA ACATTCAGATCGTTATAAAACACTATAATATAGGCACATAAAAGCTCAGA TGAAGAGACAAAATTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACAC CACAAAATGGGGAAAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATG ACAGATGAGGGACAAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAA AAGATTCCTTAAATATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGT GAAATACTTGGTGGACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTG AGAATGATGGAGTTTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCT AGAGTAATTAAGAAGGAATTATACGTTAAACAATAAGTCGTATTTATTGA ACCTCCATAGATATATATGTATGCTATAAGCCAAAAAAATAAACAGATTC AAATAATTTTAGATATAAATTTAAAACTATCAATATCAATAGGTCTAAAT ATTCATGGGCAATACATCCATACTACATATATATATATATATATATATAT ATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTGGTTTTTTGTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCATGCTG GAGTGCAGTG	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CFAP61_chr20_20047532_20365698	20337583	T T	TAGATGGA others(831): Show TAGATGGATAGATGGGTGGGTGGATGGATGGATGGATGGATGGATGGATG GATGGATAGATGGGTGGATGGATGGATAGATGGGTGGGTGGATGGATGGA TGGATAGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGATA GATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGA TGGATAGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTG GGTGGATGGATGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGGA TGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATG GATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGATAGA TGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATG GATGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGA TGGGTGGGTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATA GATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGA TGGATGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGGATGGATA GATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGA TGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTG GGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGA TGGGTGGGTGGATGGATGGATGGATAGATGGATAGATGG	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0006 a0001c0012t0006	a0001c0012t0006g0009 a0001c0012t0006g0009	1	236	0.0042	838	c.342 others(857): Show c.3423-4248_3423-4247insAGATGGATAGATGGGTGGGTGGATGG ATGGATGGATGGATGGATGGATGGATGGATAGATGGGTGGATGGATGGAT AGATGGGTGGGTGGATGGATGGATGGATAGATGGATAGATGGGTGGGTGG ATGGATGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGGATGGAT AGATGGGTGGGTGGATGGATGGATGGATAGATGGATAGATGGGTGGGTGG ATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGAT AGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGG ATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGAT GGATGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGGATGGATAG ATGGGTGGGTGGATGGATGGATGGATGGATGGATGGATGGATAGATGGGT GGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATGG ATGGATGGATGGATGGATGGATAGATGGATAGATGGGTGGGTGGATGGAT GGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGATAGATGG GTGGGTGGATGGATGGATGGATAGATGGATAGATGGGTGGGTGGATGGAT GGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGG ATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGT GGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAG ATGGATAGATGG	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	25/26			chr20	TogoVar
CFAP61_chr20_20047532_20365698	20337583	T T	TAGATGGA others(831): Show TAGATGGATAGATGGGTGGGTGGATGGATGGATGGATGGATGGATGGATG GATGGATGGATAGATGGGTGGATGGATGGATAGATGGGTGGGTGGATGGA TGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATG GATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGA TGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATG GGTGGGTGGATGGATGGATGGATAGATGGATAGATGGGTGGGTGGATGGA TGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTG GATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGA TAGATGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATG GATGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGA TGGGTGGGTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATA GATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGA TGGATGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGGATGGATA GATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGA TGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTG GGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGA TGGGTGGGTGGATGGATGGATGGATAGATGGATAGATGG	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0042 a0001c0001t0002g0042	1	236	0.0042	838	c.342 others(857): Show c.3423-4248_3423-4247insAGATGGATAGATGGGTGGGTGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGATAGATGGGTGGATGGAT GGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGATAGATGGGTGG GTGGATGGATGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGGAT GGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGATAGATGGGTGG GTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGAT GGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGG ATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGT GGATGGATGGATGGATAGATGGATAGATGGGTGGATGGATGGATGGATAG ATGGGTGGGTGGATGGATGGATGGATGGATGGATGGATGGATAGATGGGT GGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATGG ATGGATGGATGGATGGATGGATAGATGGATAGATGGGTGGGTGGATGGAT GGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGATAGATGG GTGGGTGGATGGATGGATGGATAGATGGATAGATGGGTGGGTGGATGGAT GGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGG ATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGT GGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAG ATGGATAGATGG	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	25/26			chr20	TogoVar
CFAP61_chr20_20047532_20365698	20337583	T T	TAGATGGA others(831): Show TAGATGGATAGATGGGTGGGTGGATGGATGGATGGATGGATGGATGGATG GATGGATGGATAGATGGGTGGATGGATGGATAGATGGGTGGGTGGATGGA TGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATG GATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGA TGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATG GGTGGGTGGATGGATGGATGGATAGATGGATAGATGGGTGGGTGGATGGA TGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTG GATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGA TAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATG GATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGG TGGGTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATA GATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGA TGGATGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGGATGGATA GATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGA TGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTG GGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGA TGGGTGGGTGGATGGATGGATGGATAGATGGATAGATGG	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG02451.hp2 HG03453.hp2 HG01975.hp1 HG02451.hp2 HG03453.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0004 a0007c0010 a0001c0001 a0002c0004 a0007c0010	a0001c0001t0003 a0002c0004t0003 a0007c0010t0003 a0001c0001t0003 a0002c0004t0003 a0007c0010t0003	a0001c0001t0003g0060 a0002c0004t0003g0207 a0007c0010t0003g0130 a0001c0001t0003g0060 a0002c0004t0003g0207 a0007c0010t0003g0130	3	236	0.0127	838	c.342 others(857): Show c.3423-4248_3423-4247insAGATGGATAGATGGGTGGGTGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGATAGATGGGTGGATGGAT GGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGATAGATGGGTGG GTGGATGGATGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGGAT GGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGATAGATGGGTGG GTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGAT GGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGG ATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGT GGATGGATGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGGATGG ATAGATGGGTGGGTGGATGGATGGATGGATGGATGGATAGATGGGTGGGT GGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATGGATGG ATGGATGGATGGATGGATGGATAGATGGATAGATGGGTGGGTGGATGGAT GGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGATAGATGG GTGGGTGGATGGATGGATGGATAGATGGATAGATGGGTGGGTGGATGGAT GGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGG ATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGT GGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAG ATGGATAGATGG	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	25/26			chr20	TogoVar
CFAP61_chr20_20047532_20365698	20337583	T T	TGGATAGA others(831): Show TGGATAGATGGGTGGGTGGATGGATGGATGGATGGATGGATGGATGGATG GATGGATAGATGGGTGGATGGATGGATAGATGGGTGGGTGGATGGATGGA TGGATAGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGATA GATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGA TGGATAGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTG GGTGGATGGATGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGGA TGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATG GATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGATAGA TGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATG GATGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGA TGGGTGGGTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATA GATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGA TGGATGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGGATGGATA GATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGA TGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTG GGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGA TGGGTGGGTGGATGGATGGATGGATAGATGGATAGATGG	intron_variant intron_variant	MODIFIER	HG00639.hp2 NA19003.hp1 homoSapiens_chm13v2.hp1 HG00639.hp2 NA19003.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0007 a0002c0002 a0002c0004 a0001c0007 a0002c0002 a0002c0004	a0001c0007t0002 a0002c0002t0001 a0002c0004t0001 a0001c0007t0002 a0002c0002t0001 a0002c0004t0001	a0001c0007t0002g0084 a0002c0002t0001g0174 a0002c0004t0001g0025 a0001c0007t0002g0084 a0002c0002t0001g0174 a0002c0004t0001g0025	3	236	0.0127	838	c.342 others(857): Show c.3423-4247_3423-4246insGATAGATGGGTGGGTGGATGGATGGA TGGATGGATGGATGGATGGATGGATGGATAGATGGGTGGATGGATGGATA GATGGGTGGGTGGATGGATGGATGGATAGATGGATAGATGGGTGGGTGGA TGGATGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGGATGGATA GATGGGTGGGTGGATGGATGGATGGATAGATGGATAGATGGGTGGGTGGA TGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGATA GATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGA TGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATG GATGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGA TGGGTGGGTGGATGGATGGATGGATGGATGGATGGATGGATAGATGGGTG GGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATGGA TGGATGGATGGATGGATGGATAGATGGATAGATGGGTGGGTGGATGGATG GATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGATAGATGGG TGGGTGGATGGATGGATGGATAGATGGATAGATGGGTGGGTGGATGGATG GATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGA TGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTG GGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGA TGGATAGATGGG	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20337583	T T	TGGGTGGG others(831): Show TGGGTGGGTGGATGGATGGATGGATGGATGGATGGATGGATGGATAGATG GGTGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGA TAGATGGGTGGGTGGATGGATGGATGGATAGATGGATAGATGGGTGGGTG GATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGA TAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATG GATGGATAGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGG TGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATA GATGGGTGGGTGGATGGATGGATGGATAGATGGATAGATGGGTGGGTGGA TGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATGGATGGATA GATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGA TGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATAGATGGATA GATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGA TGGATAGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGATA GATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGA TGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGATAGATGGGTG GGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGA TGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGG	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01243.hp2 HG02109.hp1 others(1): Show HG01099.hp1 HG01243.hp2 HG02109.hp1 NA19003.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0004 a0001c0001 a0002c0002 a0002c0004	a0001c0001t0002 a0001c0001t0003 a0002c0002t0002 others(1): Show a0001c0001t0002 a0001c0001t0003 a0002c0002t0002 a0002c0004t0002	a0001c0001t0002g0198 a0001c0001t0003g0095 a0002c0002t0002g0002 others(1): Show a0001c0001t0002g0198 a0001c0001t0003g0095 a0002c0002t0002g0002 a0002c0004t0002g0209	4	236	0.0170	838	c.342 others(857): Show c.3423-4247_3423-4246insGGTGGGTGGATGGATGGATGGATGGA TGGATGGATGGATGGATAGATGGGTGGATGGATGGATAGATGGGTGGGTG GATGGATGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGGATGGA TAGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTG GATGGATGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGGATGGA TAGATGGGTGGGTGGATGGATGGATGGATAGATGGATAGATGGGTGGGTG GATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGG TGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATA GATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGA TGGATGGATGGATGGATGGATAGATGGATAGATGGGTGGGTGGATGGATG GATGGATAGATGGGTGGGTGGATGGATGGATGGATGGATGGATGGATGGA TGGATGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGGATGGATA GATGGGTGGGTGGATGGATGGATGGATAGATGGATAGATGGGTGGGTGGA TGGATGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGGATGGATA GATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGA TGGATAGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTG GGTGGATGGATGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGGA TGGATAGATGGG	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
DGCR8_chr22_20075241_20116872	20075553	C C	CGAGACCA others(831): Show CGAGACCAGCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATATAA AAATTAGCCAAGCGTGGTGGTGGGCGCCTATAATCCCAGCTACTTGGGAG GCTGAGGCAGGAGAAATTGCATGAACCCGGGAGGCGGAGCTTGCAGTGAG CCAGACTGTGCCATTGCACTCCAGCCTGGGCGACAGAACGAGACTCTGTC TCAAAAAAAAAAAAGAAAATAATAATAATAATAATATTAAAAGGTAAACA GAAATCTTCATAATCTCAAATACTGTAAGAAAACTTTGTCATTTCAACAG AGAAGATCAAGTTAAAGTTCTGCATCATAGCACTACTAATAAAGCTAATT TTAACAAAACCTTATAAATGAATCCATCCAATCTCACGCAAGATAATATT TCTTTCCAAGATTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTTTCGCCCAGGCTGGAGTGTAGTGGCGCTGTCTTGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCG AGTAGCTGGGACTACAGGCGCCCACTACCACGCCCGGCTAATTTTTTTGT ATTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCT CCTGACCTAGTGATCGCCCCGCCTCGGCCTCCCAAAGTGCTGGATTACAG GCGTGAGCCACCGCCCGGCCAGATTTCTTTTCTATAGATGTTTTACAACT TAAAAAAAATATCTGGCGGGCACCGTGGCTCATGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGTGGATCATGAGGCAGGAGATT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	419	0.0024	838	c.-51 others(849): Show c.-5108_-5107insGAGACCAGCTGGCTAACACGGTGAAACCCTGTCT CTACTAAAAATATAAAAATTAGCCAAGCGTGGTGGTGGGCGCCTATAATC CCAGCTACTTGGGAGGCTGAGGCAGGAGAAATTGCATGAACCCGGGAGGC GGAGCTTGCAGTGAGCCAGACTGTGCCATTGCACTCCAGCCTGGGCGACA GAACGAGACTCTGTCTCAAAAAAAAAAAAGAAAATAATAATAATAATAAT ATTAAAAGGTAAACAGAAATCTTCATAATCTCAAATACTGTAAGAAAACT TTGTCATTTCAACAGAGAAGATCAAGTTAAAGTTCTGCATCATAGCACTA CTAATAAAGCTAATTTTAACAAAACCTTATAAATGAATCCATCCAATCTC ACGCAAGATAATATTTCTTTCCAAGATTTCTTTTCTTTTTTTTTTTTTTT TTTTTTTTGAGACGGAGTCTCGCTCTTTCGCCCAGGCTGGAGTGTAGTGG CGCTGTCTTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTC CTGCCTCAGCCTCCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCC GGCTAATTTTTTTGTATTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCA GGATGGTCTCGATCTCCTGACCTAGTGATCGCCCCGCCTCGGCCTCCCAA AGTGCTGGATTACAGGCGTGAGCCACCGCCCGGCCAGATTTCTTTTCTAT AGATGTTTTACAACTTAAAAAAAATATCTGGCGGGCACCGTGGCTCATGC CTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGTGGATCATGAGGCAGGA GATT	DGCR8	ENSG00000128191.17	transcript	ENST00000351989.8	protein_coding		4687		chr22	TogoVar
DIP2C_chr10_269201_694668	323393	C C	CGGGGCTC others(831): Show CGGGGCTCCAGGGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGC GGGGCTCCAGCGAGAGACCGGCGTTGTTAGAACAGTCAGTCGGGGGTGCG GGGGCTCCGGTGAGAGACCGGCGTTGTTAGAACAGTCAGTCGGGGGTGCG GGGGTCCGGCGAGAGACCGGCGTTGTTAGAACAGTCAGTCGGGGGTGCGG GGCTCCAGGGAGAGACCGGCGTTGTTAGAACAGTCAGTCGGGGGTGCGGG GGTCCGGCGAGAGACCGGCGTTGTTAGAACAGTCAGTCGGGGGTGCGGGG CTCCGGCGAGAGACCGGCGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGC TCCAGGGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCT CCAGCGAGAGACCGGCGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTC CGGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCC GGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGGCTCC AGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGGCTCC AGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGGCTCC AGCGAGAGACCGGCGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCG GCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGG CGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGC GAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0003 a0001c0018t0003	a0001c0018t0003g0011 a0001c0018t0003g0011	1	88	0.0114	838	c.392 others(857): Show c.3924+3612_3924+3613insCGCACCCCCGACTGACTGTTCTAACA GCGCCGGTCTCTCGCCGGAGCCCCGCACCCCCGACTGACTGTTCTAACAG CGCCGGTCTCTCGCCGGAGCCCCGCACCCCCGACTGACTGTTCTAACAGC GCCGGTCTCTCGCCGGAGCCCCGCACCCCCGACTGACTGTTCTAACAACG CCGGTCTCTCGCTGGAGCCCCCGCACCCCCGACTGACTGTTCTAACAGCG CCGGTCTCTCGCTGGAGCCCCCGCACCCCCGACTGACTGTTCTAACAGCG CCGGTCTCTCGCTGGAGCCCCCGCACCCCCGACTGACTGTTCTAACAGCG CCGGTCTCTCGCCGGAGCCCCGCACCCCCGACTGACTGTTCTAACAGCGC CGGTCTCTCGCCGGAGCCCCGCACCCCCGACTGACTGTTCTAACAACGCC GGTCTCTCGCTGGAGCCCCGCACCCCCGACTGACTGTTCTAACAGCGCCG GTCTCTCCCTGGAGCCCCGCACCCCCGACTGACTGTTCTAACAACGCCGG TCTCTCGCCGGAGCCCCGCACCCCCGACTGACTGTTCTAACAACGCCGGT CTCTCGCCGGACCCCCGCACCCCCGACTGACTGTTCTAACAACGCCGGTC TCTCCCTGGAGCCCCGCACCCCCGACTGACTGTTCTAACAACGCCGGTCT CTCGCCGGACCCCCGCACCCCCGACTGACTGTTCTAACAACGCCGGTCTC TCACCGGAGCCCCCGCACCCCCGACTGACTGTTCTAACAACGCCGGTCTC TCGCTGGAGCCCCGCACCCCCGACTGACTGTTCTAACAGCGCCGGTCTCT CCCTGGAGCCCC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DPEP1_chr16_89608642_89643433	89619512	T T	TCCCTGCC others(831): Show TCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCC CTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCC CCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGC TCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCC CTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCC CCCCGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGC TCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCC TCTCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCC CCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGC CCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCT CCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCC CTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCC CCCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCC TCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCATGCCCC CCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCTCTGCAGCC CCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTC CCTGCAGCTCCCTGCCCCCCTGCTCCCCTCTCTGCAGCC	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	250	0.0040	838	c.-10 others(857): Show c.-107+5804_-107+5805insCTGCTCCCCTCCCTGCAGCCCCCTGC CCCCCCGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCA GCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCC CCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCC CCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGC AGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCC CCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCC CCCCTGCTCCCCTCTCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCA GCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCC CCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCATGCC CCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAG CTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCC CTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCC CCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCA GCTCCATGCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCC CTCTCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCC CCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCTCTGCAGC CCCCTGCCCCCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
FBXO47_chr17_38931432_38972403	38946735	T T	TATATATG others(831): Show TATATATGAATATATAAATATATATAAATATATAAATATATAAATAAAAA TATATAAAAATATATACATATATAAATATAAATATATAATATATAAATAT ATAAATATATAAATATATAAATATAAATATATAAAAATATATAAATATAT AAAAATATATAAATATATAAATATATATAAATATATATAAATATATAAAT ATATAAATATATATAAATATATAAATATATAAATATATAAAAATATATAA ATACATAAATATATAAATATATAAATATATAAATATATAAATATATATAA GTACATATAAATATATATACATAAATATATAAATATATAAATATATAAAT ACATAATATATATAAATATAAAATATATATAATATATAAAATATATTAAA AATATAAAAATATATATAAAAAATATATAAATATATAAAAATATATAAAA AATATATACACATATAAATATATATAAAAATATATAAATATATATAAAAA TATATAAATATATATTATATATAAATATATAATATATAAATATATATAAA TATATAAATATATATAAATATATACAATATATAAATATATATAAATATAT ACAATATATAAATATATATATACAATATATAAATATATATAAATATATAC AATATATAAATATATATAAATATATACAATATATAAATATATATAAATAT ATACAATATATAAATATATATAAATATATACAATATATAAATATATATAA ATATATATAATATATAAATATATATAAATATATAAATATATATAAATATA TATAATATATAAATATATAAAAATATATAAATATATATA	intron_variant intron_variant	MODIFIER	HG04184.hp2 NA18983.hp2 HG04184.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0072 a0001c0001t0001g0065 a0001c0001t0001g0072	2	344	0.0058	838	c.617 others(855): Show c.617-1600_617-1599insTATATATATTTATATATTTTTATATATT TATATATTATATATATTTATATATATTTATATATTTATATATATTTATAT ATTATATATATTTATATATATTTATATATTGTATATATTTATATATATTT ATATATTGTATATATTTATATATATTTATATATTGTATATATTTATATAT ATTTATATATTGTATATATTTATATATATTTATATATTGTATATATATAT TTATATATTGTATATATTTATATATATTTATATATTGTATATATTTATAT ATATTTATATATTTATATATATTTATATATTATATATTTATATATAATAT ATATTTATATATTTTTATATATATTTATATATTTTTATATATATTTATAT GTGTATATATTTTTTATATATTTTTATATATTTATATATTTTTTATATAT ATTTTTATATTTTTAATATATTTTATATATTATATATATTTTATATTTAT ATATATTATGTATTTATATATTTATATATTTATATATTTATGTATATATA TTTATATGTACTTATATATATTTATATATTTATATATTTATATATTTATA TATTTATGTATTTATATATTTTTATATATTTATATATTTATATATTTATA TATATTTATATATTTATATATTTATATATATTTATATATATTTATATATT TATATATTTTTATATATTTATATATTTTTATATATTTATATTTATATATT TATATATTTATATATTTATATATTATATATTTATATTTATATATGTATAT ATTTTTATATATTTTTATTTATATATTTATATATTTATATATATTTATAT ATTCATATAT	FBXO47	ENSG00000204952.3	transcript	ENST00000378079.3	protein_coding	6/10			chr17	TogoVar

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Search Results (Total: 7053 hits)