Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
NT5C1A_chr1_39646229_39677107	39664497	T T	TCCTCTCC others(444): Show TCCTCTCCTCTCCTCTCCTCTCCTCTCCTTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCTCTCCTCTCCTCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCC TCCCCTCCCCCTTCCCCTTCCCTCTCCCCTTCCCCTCCCCTCCCCCTTCC CCTCCCCCTCCCCCTCCCCCTTCCCCTTCCCTCTCCCCTTCCCCTCCCCT CC	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	326	0.0031	451	c.433 others(468): Show c.433+1023_433+1024insGGAGGGGAGGGGAAGGGGAGAGGGAAGG GGAAGGGGGAGGGGGAGGGGGAGGGGAAGGGGGAGGGGAGGGGAAGGGGA GAGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGG GAAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGAGGAGAGGAGAGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAAGGAG AGGAGAGGAGAGGAGAGGAGAGG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NXN_chr17_794310_984776	949160	C C	CCCCCCTG others(444): Show CCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCGTGGCCTC CTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCC TGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCGCGGCCTCCTCCTCT CCCCGCGGCCTCCTACTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTC CTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCC CTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCT CTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCGCGGCC TCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCGTGGCCTCCTCCTCTCCCC CTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCGTGGCCTCCTCCT CT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0237 a0001c0001t0030g0237	1	242	0.0041	451	c.360 others(470): Show c.360+30158_360+30159insAGAGGAGGAGGCCACGGGGAGAGGAG GAGGCAGGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCCACGGGGA GAGGAGGAGGCAGGGGGAGAGGAGGAGGCCGCGGGGAGAGGAGGAGGCAG GGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAG GAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGG AGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGC AGGGGGGAGAGTAGGAGGCCGCGGGGAGAGGAGGAGGCCGCGGGGAGAGG AGGAGGCAGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGG GAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCCACGGGGAGAGGAGGAGGC AGGGGGGAGAGGAGGAGGCAGGGGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	952366	T T	TGGGGGGG others(444): Show TGGGGGGGGCTGGAGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTACCA CGGACGGTCACACTGTGGGGGGGCTGGAGTCAGAGAGACCAAGGTTGGAA CCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGCTGGGGTCAGACA GACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGG GCTGGGGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGT CACACTGTGGGGGGGCTGGAGTCAGAGAGACCAAGGTTGGAACCCGGCAG GTACCACGGACGGTCACACTGTGGGGGGGCTGGGGTCAGACAGACCAAGG TTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGGCTGGAG TCAGAGAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTG TG	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0008 a0001c0002t0009g0008	1	242	0.0041	451	c.360 others(470): Show c.360+26952_360+26953insCACAGTGTGACCGTCCGTGGTACCTG CCGGGTTCCAACCTTGGTCTCTCTGACTCCAGCCCCCCCCACAGTGTGAC CGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTGTCTGACCCCAGCCC CCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTC TCTGACTCCAGCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTT CCAACCTTGGTCTCTCTGACCCCAGCCCCCCCACAGTGTGACCGTCCGTG GTACCTGCCGGGTTCCAACCTTGGTCTGTCTGACCCCAGCCCCCCCACAG TGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTGACTC CAGCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTT GGTCTCTCTGACTCCAGCCCCCCCC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OR11H4_chr14_20234286_20249349	20237654	A A	ATAGTATA others(444): Show ATAGTATATATAGTATATAGTATATATAGTATATATAGGATATATAGGAT ATATAGGATATATATAATATAGTATATATAGTATATATACTCTATAGTAT ATATAGTATATATAGTATGTATACTCTATAGTATATATAGTATATATACT CTATAGTATATATAGTATATATAGTATATATACTCTATAGTATATATAGT ATATATACTCTATAGTATATATAGTATATATACTATAGAGTATATATAGT ATATATAGTATATATACTCTATAGTATACATATAGTATATATACTCTATA GTATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATA GTATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATA GTATATATACTATATATACTCTATAGTATATATAGTATATATACTCTATA GT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	439	0.0023	451	c.-16 others(462): Show c.-1689_-1688insTAGTATATATAGTATATAGTATATATAGTATATA TAGGATATATAGGATATATAGGATATATATAATATAGTATATATAGTATA TATACTCTATAGTATATATAGTATATATAGTATGTATACTCTATAGTATA TATAGTATATATACTCTATAGTATATATAGTATATATAGTATATATACTC TATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATACTA TAGAGTATATATAGTATATATAGTATATATACTCTATAGTATACATATAG TATATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAG TATATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAG TATATATACTCTATAGTATATATACTATATATACTCTATAGTATATATAG TATATATACTCTATAGT	OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding		1631		chr14	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(444): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTAATACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTAATACATATATAACATA TATGTATTACATATATGTAATACATATATAACATATATGTATTACATATA TGTAATACATATATAACATATATGTATTACATATATGTAATACATATATA AC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0001 a0001c0001t0037g0001	1	400	0.0025	451	c.70 others(462): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTAATACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAA TACATATATAACATATATGTATTACATATATGTAATACATATATAACATA TATGTATTACATATATGTAATACATATATAACATATATGTATTACATATA TGTAATACATATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PCBP3_chr21_45638725_45947450	45746625	C C	CGGTGTTG others(444): Show CGGTGTTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGTG GTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGGTGTC AGCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGTTGTCAGCAT CGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGGTGTCAGCATCGCCG TGTCAGTCCATTGACGTAGCGCACACGGTGGTGTCAGCATCGCCGTGTCA GTCCATTGACGTAGCGCACACGGTGGTGTCAGCATCGCCGTGTCAGTCCA TTGACGTAGCGCACACGGTGGTGTCAGCATCGCCGTGTCAGTCCATTGAC GTAGCGCACACGGTGGTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGC GCACACGGTGGTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCCAC AT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0215 a0001c0002t0009g0215	1	292	0.0034	451	c.-16 others(470): Show c.-161-8788_-161-8787insTTGTCAGCATCGCCGTGTCAGTCCAT TGACGTAGCGCACACGGTGGTGTCAGCATCGCCGTGTCAGTCCATTGACG TAGCGCACACGGTGGTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCG CACACGGTGTTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCACAC GGTGGTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGG TGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGGTGTCA GCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGGTGTCAGCATC GCCGTGTCAGTCCATTGACGTAGCGCACACGGTGGTGTCAGCATCGCCGT GTCAGTCCATTGACGTAGCGCACACGGTGGTGTCAGCATCGCCGTGTCAG TCCATTGACGTAGCGCCACATGGTG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45909771	A A	ACCCACTG others(444): Show ACCCACTGCCCAGATACGGACCCCCCCCCACCCACTGCCCAGATACGGAC CCGGCCCACCCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGAT ACGGACCCCCCCCCCGCCCACTGCCCAGATACGGACCCCCCCCACCCACT GCCCAGATACGGACCCGGCCCACCCACTGCCCAGATACGGACCCCCCCCA CCCACTGCCCAGATACGGACCCCCCCAACCCACTGCCCAGATACGGACCC CCCCCACCCACTGCCCAGATACGGACCCCCCCAACCCACTGCCCAGATAC GGACCCCCCCAACCCACTGCCCAGATACGGACCCCCCCCACCCACTGCCC AGATACGGACCCGGCCCACCCACTGCCCAGATATGGACCCCCCCCACCAC TGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATACGGACCCCCCCC CG	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02165.hp2 HG02080.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0092 a0001c0001t0002g0093	2	292	0.0069	451	c.471 others(466): Show c.471+313_471+314insACCCACTGCCCAGATACGGACCCGGCCCAC CCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATACGGACCCC CCCCCCGCCCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATA CGGACCCGGCCCACCCACTGCCCAGATACGGACCCCCCCCACCCACTGCC CAGATACGGACCCCCCCAACCCACTGCCCAGATACGGACCCCCCCCACCC ACTGCCCAGATACGGACCCCCCCAACCCACTGCCCAGATACGGACCCCCC CAACCCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATACGGA CCCGGCCCACCCACTGCCCAGATATGGACCCCCCCCACCACTGCCCAGAT ACGGACCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCCGCCCACTG CCCAGATACGGACCCCCCCCC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCDH11Y_chrY_4995296_5747224	5525214	T T	TGGGAGGA others(444): Show TGGGAGGAGGAGGAGTGGGAGGAGGAGGGGGGAGGAGGCGGAGGGGGAGG AGGAGGGGGGAGGAGGAGGGGGAGGGGGAGGAGGAGGGGGAGGGGAGGAG GAGGGGGCAGGAGGAGGAGTGGGAGGTGGAGGGGGTAGGAGGAGGAGGGG GAGGAGGGGGGAGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGGGGGAG GAGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGCGGA GGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGGGGAGGAGGACGGGGAGG AGGAGGGGGAGGGGGAGGAGGACGGGGAGGAGGAGGGGGAGGGGGAGGAG GAGGGGGAGGAGGAGGAGTGGGGAGGAGGAGGGGGCAGGAGGAGGAGTGG GAGGTGGAGGGGGTAGGAGGAGGAGGGGGAGGAGGGGGGGAGGAGGAGGA GG	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	115	0.0087	451	c.305 others(472): Show c.3052+23989_3052+23990insGAGGAGGCGGAGGGGGAGGAGGAG GGGGGAGGAGGAGGGGGAGGGGGAGGAGGAGGGGGAGGGGAGGAGGAGGG GGCAGGAGGAGGAGTGGGAGGTGGAGGGGGTAGGAGGAGGAGGGGGAGGA GGGGGGAGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGGGGGAGGAGGA GGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGCGGAGGGGG AGGAGGAGGGGGAGGAGGAGGGGGAGGGGGAGGAGGACGGGGAGGAGGAG GGGGAGGGGGAGGAGGACGGGGAGGAGGAGGGGGAGGGGGAGGAGGAGGG GGAGGAGGAGGAGTGGGGAGGAGGAGGGGGCAGGAGGAGGAGTGGGAGGT GGAGGGGGTAGGAGGAGGAGGGGGAGGAGGGGGGGAGGAGGAGGAGGGGG AGGAGGAGGAGTGGGAGGAGGAGGGGG	PCDH11Y	ENSG00000099715.15	transcript	ENST00000698851.1	protein_coding	4/5		INFO_REALIGN_3_PRIME	chrY	TogoVar
PCNT_chr21_46319156_46450769	46399277	C C	CTCCCTGT others(444): Show CTCCCTGTGCAGCCTGTGGGTCTGGGTCTCTGTTCAGCCTGTGGGTCTAG GTCTCCCTGTGCAGCCTGTGGGTCTAGGTCTCCCTGTGCAGCCTGTGGGT CTAGGTCTCCCTGTGCAGCCTCTGGGTCTGGGTCTCTGTGCAGCCTGTAG GTCTACGTCTCCGTGCAGCCTGTGGGTCTAGGTCTCCCTCTGCAGCCTGT GGGTCTGGGTCTCCCTGTGCAGCCTGTGGGTCTAGGTCTCCCTGTGCAGC CTGTGGGTCTGGGTCTCTGTTCAGCCTGTGGGTCTAGGTCTCCCTGTGCA GCCTGTGAGTCTGGGTCTCCCTGTGCAGCCTGTGGCTCTAGGTCTCTCTC TGCAGCCTGTGAGTCTGGGTCTCTGTGCAGCCTGTGGGTCTAGGTCTCCC TGTGCAGCCTGTGGGTCTAGGTCTCCCTGTGCAGCCTGTGGGTCTGCATC TG	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0158 a0003c0003t0001g0158	1	332	0.0030	451	c.458 others(468): Show c.4585-311_4585-310insCCTGTGCAGCCTGTGGGTCTGGGTCTCT GTTCAGCCTGTGGGTCTAGGTCTCCCTGTGCAGCCTGTGGGTCTAGGTCT CCCTGTGCAGCCTGTGGGTCTAGGTCTCCCTGTGCAGCCTCTGGGTCTGG GTCTCTGTGCAGCCTGTAGGTCTACGTCTCCGTGCAGCCTGTGGGTCTAG GTCTCCCTCTGCAGCCTGTGGGTCTGGGTCTCCCTGTGCAGCCTGTGGGT CTAGGTCTCCCTGTGCAGCCTGTGGGTCTGGGTCTCTGTTCAGCCTGTGG GTCTAGGTCTCCCTGTGCAGCCTGTGAGTCTGGGTCTCCCTGTGCAGCCT GTGGCTCTAGGTCTCTCTCTGCAGCCTGTGAGTCTGGGTCTCTGTGCAGC CTGTGGGTCTAGGTCTCCCTGTGCAGCCTGTGGGTCTAGGTCTCCCTGTG CAGCCTGTGGGTCTGCATCTGTC	PCNT	ENSG00000160299.19	transcript	ENST00000359568.10	protein_coding	24/46		INFO_REALIGN_3_PRIME	chr21	TogoVar
PIGQ_chr16_564968_589109	571109	C C	CTGGCTAG others(444): Show CTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGT CTGGCTAGCCTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGTGCCCGTG TGTGTGTGTATGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGC TAGCCTGGTGCCCGTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGCT CCCGTGGCTAGCCTGGTGCCTGTGTGTGTGTGTGTGTATGTGTCTGGCTA GCCTGGTGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTGTGTGGGGG GGCTAGCCTTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGC GTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGG CGCCCGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCACC CG	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0105 a0002c0001t0001g0105	1	408	0.0025	451	c.-10 others(468): Show c.-10+1024_-10+1025insTGTGTGTGTGTGTCTGGCTAGCCTGTGT GTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGTGTCTGGCTAGCCT GGTGCCCGTGTGTGTGTGTATGTGTGTGTGTGTGTGTCTGGCTAGCCTGG CGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTATGTGTCTGGC TAGCCTGGCTCCCGTGGCTAGCCTGGTGCCTGTGTGTGTGTGTGTGTATG TGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTG TGTGTGGGGGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTG TCTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTG GCTAGCCTGGCGCCCGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGGCTA GCCTGGCACCCGTGGCTAGCCTG	PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	494803	A A	AGAGGTGG others(444): Show AGAGGTGGGAGGATCACATGAGCCGGGGAGGTCGAGGCTGCAGAGGTGGG AGGATCACATGAGCCGGGGAGGTCGAGGCTGCAGAGGTGGGAGGATCACA TGAGCCGGGGAGGTCGAGGCTGCAGAGGTGGGAGGATCACATGAGCCGGG GAGGTCGAGGCTGCAGAGGTGGGAGGATCACATGAGCCGGGGAGGTCGAG GCTGCAGAGGTGGGAGGATCACATGAGCCGGGGAGGTCGAGGCTGCAGAG GTGGGAGGATCACATGATCCTGGGAGGTCGAGGCTGCAGAGGTGGGAGGA TCACATGAGCCGGGGAGGTCGAGGCTGCTGAGGTGGGAGGATCACATGAG CCGGGGAGGTCGAGGCTGCAGAGGTGGGAGGATCACATGAGCCGGGGAGG TCGAGGCTGCAGAGGTGGGAGGATCACATGAGCCTGGGAGGTCGAGGCTG CT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0045 a0001c0001t0035g0045	1	295	0.0034	451	c.126 others(470): Show c.1266-1998_1266-1997insGGGGAGGTCGAGGCTGCAGAGGTGGG AGGATCACATGAGCCGGGGAGGTCGAGGCTGCAGAGGTGGGAGGATCACA TGAGCCGGGGAGGTCGAGGCTGCAGAGGTGGGAGGATCACATGAGCCGGG GAGGTCGAGGCTGCAGAGGTGGGAGGATCACATGAGCCGGGGAGGTCGAG GCTGCAGAGGTGGGAGGATCACATGAGCCGGGGAGGTCGAGGCTGCAGAG GTGGGAGGATCACATGATCCTGGGAGGTCGAGGCTGCAGAGGTGGGAGGA TCACATGAGCCGGGGAGGTCGAGGCTGCTGAGGTGGGAGGATCACATGAG CCGGGGAGGTCGAGGCTGCAGAGGTGGGAGGATCACATGAGCCGGGGAGG TCGAGGCTGCAGAGGTGGGAGGATCACATGAGCCTGGGAGGTCGAGGCTG CTGAGGTGGGAGGATCACATGAGCC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RPA3_chr7_7631518_7723607	7679116	G G	GTTTATAA others(444): Show GTTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATATA TTTAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTA TATATTTAGTTTATAAACATATATTTATATATTTAGTTTATAAATATATA TTTATTTATTTAGTTTATAAATATATATTTATTTAGTTTATAAATATATA TTTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATACATA TTTACATATTTAGTTTATAAATATTTACATATTTAGTTTATAAATACATA TTTACATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATA CATATTTATATATTTAGTTTATAAATACATATTTATATATTTAGTTTATA AATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATTT AA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0301 a0001c0001t0002g0301	1	308	0.0033	451	c.-75 others(470): Show c.-758+6713_-758+6714insTTAAATATATAAATATATATTTATCT ATAAATTAAATATATAAATATATATTTATAAACTAAATATATAAATATGT ATTTATAAACTAAATATATAAATATGTATTTATAAACTAAATATGTAAAT ATGTATTTATAAACTAAATATGTAAATATGTATTTATAAACTAAATATGT AAATATTTATAAACTAAATATGTAAATATGTATTTATAAACTAAATAAAT ATATATTTATAAACTAAATATGTAAATATATATTTATAAACTAAATAAAT ATATATTTATAAACTAAATAAATAAATATATATTTATAAACTAAATATAT AAATATATGTTTATAAACTAAATATATAAATATATGTTTATAAACTAAAT ATATAAATATATGTTTATAAACTAAATATATAAATATATGTTTATAAACT AAATATATAAATATATGTTTATAAA	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RPA3_chr7_7631518_7723607	7679116	G G	GTTTATAA others(444): Show GTTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATATA TTTAGTTTATAAACATATATTTATATATTTAGTTTATAAATATATATTTA TATATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATATATA TTTACTTATTTAGTTTATAAATATATATTTATTTAGTTTATAAATATATA TTTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATACATA TTTACATATTTAGTTTATAAATATTTACATATTTAGTTTATAAATACATA TTTACATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATA CATATTTATATATTTAGTTTATAAATACATATTTATATATTTAGTTTATA AATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATTT AA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	308	0.0033	451	c.-75 others(470): Show c.-758+6713_-758+6714insTTAAATATATAAATATATATTTATCT ATAAATTAAATATATAAATATATATTTATAAACTAAATATATAAATATGT ATTTATAAACTAAATATATAAATATGTATTTATAAACTAAATATGTAAAT ATGTATTTATAAACTAAATATGTAAATATGTATTTATAAACTAAATATGT AAATATTTATAAACTAAATATGTAAATATGTATTTATAAACTAAATAAAT ATATATTTATAAACTAAATATGTAAATATATATTTATAAACTAAATAAAT ATATATTTATAAACTAAATAAGTAAATATATATTTATAAACTAAATATAT AAATATATATTTATAAACTAAATATATAAATATATATTTATAAACTAAAT ATATAAATATATGTTTATAAACTAAATATATAAATATATGTTTATAAACT AAATATATAAATATATGTTTATAAA	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RSPH10B_chr7_5921136_5975689	5930763	C C	CGTACACA others(444): Show CGTACACAGCCCACCAAGATGCCTAGCAGCAAAGGTGTACATGTACACAG CCCCCCAAGATACCTAGCAGCAAAGGTGAGCATGTACACAGCCCCCCAAG ATGCCTAGCAGCAAAGGTGAGCATGTACACAGCCCCCCAAGATGCCTAGC AGCAAAGGTGAGCATGTACACAGCCCCCCAAGATGCCTAGCAGCAAAGGT GAGCATGTACACAGCCCCCCAAGATGCCTAGCAGCAAAGGTGAGCATGTA CACAGCCCCCCAAGATACCTAGCAGCAAAGGTGAGCATGTACACAGCCCC CCAAGATGCCTAGCAGCAAAGGTGAGCATGTACACAGCCCCCCAAGATGC CTAGCAGCAAAGGTGAGCATGTACACAGCCCCCCAAGATACCTAGCAGCA AAGGTGAGCATGTACACAGCCCCCCAAGATACCTAGCAGCAAAGGTGAGC AT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00741.hp1 HG01071.hp2 HG00639.hp2 HG00741.hp1 HG01071.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0006 a0001c0001 a0006c0006	a0001c0001t0006 a0006c0006t0001 a0001c0001t0006 a0006c0006t0001	a0001c0001t0006g0013 a0006c0006t0001g0008 a0006c0006t0001g0017 a0001c0001t0006g0013 a0006c0006t0001g0008 a0006c0006t0001g0017	3	70	0.0429	451	c.223 others(470): Show c.2233+2018_2233+2019insATGCTCACCTTTGCTGCTAGGTATCT TGGGGGGCTGTGTACATGCTCACCTTTGCTGCTAGGTATCTTGGGGGGCT GTGTACATGCTCACCTTTGCTGCTAGGCATCTTGGGGGGCTGTGTACATG CTCACCTTTGCTGCTAGGCATCTTGGGGGGCTGTGTACATGCTCACCTTT GCTGCTAGGTATCTTGGGGGGCTGTGTACATGCTCACCTTTGCTGCTAGG CATCTTGGGGGGCTGTGTACATGCTCACCTTTGCTGCTAGGCATCTTGGG GGGCTGTGTACATGCTCACCTTTGCTGCTAGGCATCTTGGGGGGCTGTGT ACATGCTCACCTTTGCTGCTAGGCATCTTGGGGGGCTGTGTACATGCTCA CCTTTGCTGCTAGGTATCTTGGGGGGCTGTGTACATGTACACCTTTGCTG CTAGGCATCTTGGTGGGCTGTGTAC	RSPH10B	ENSG00000155026.17	transcript	ENST00000404406.6	protein_coding	19/20			chr7	TogoVar
RSPH1_chr21_42467486_42501224	42477223	G G	GCCCCCTC others(444): Show GCCCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGCCCCCTCC ACTCCACAGCCCGGGGATGCCCCACACCCTCTGCCCCCTCCACCCCACAG CCCGGGGATGCCCCACACCCTCTGACCCCTCCACCCCACAGCCCGGGGAT GCCCCACACCCTCTGTCCCACAGCCCGGGGGTGCCCCACACCCTCTGCCC CCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCACTC CACAGCCCGGGGGTGCCCTACACCCTCTGCCCCCTCCACCCCACAGCCCG GGGATGCCCCACACCCTCTGCCCCCTCCACTCCACAGCCCGGGGATGCCC CACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTC TGACCCCTCCACTCCACAGCCCGGGGGTGCCCTACACCCTCTGCCCCCTC CA	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	408	0.0025	451	c.727 others(464): Show c.727+67_727+68insTGGAGGGGGCAGAGGGTGTAGGGCACCCCCGG GCTGTGGAGTGGAGGGGTCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGG TGGAGGGGGCAGAGGGTGTGGGGCATCCCCGGGCTGTGGAGTGGAGGGGG CAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTG TAGGGCACCCCCGGGCTGTGGAGTGGAGGGGTCAGAGGGTGTGGGGCATC CCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCACCCCCGGGCTG TGGGACAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGTCAGA GGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGG GCATCCCCGGGCTGTGGAGTGGAGGGGGCAGAGGGTGTGGGGCATCCCCG GGCTGTGGGGTGGAGGGGG	RSPH1	ENSG00000160188.10	transcript	ENST00000291536.8	protein_coding	7/8			chr21	TogoVar
SAMD11_chr1_918923_949574	934349	A A	AGGCGGCT others(444): Show AGGCGGCTGCGTTACAGGTGGGCAGGGGGAGGCGGCTGCGTTACAGGTGG GCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTAC AGGTGGGCAGGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGGAGGCGGC TGCGTTACAGGTGGGCGGGGGGGCGGCTGCGTTACAGGTGGGCAGGGGGA GGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGC GGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAG GTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCG TTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCG GCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGG GG	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0320 a0001c0002t0002g0320	1	434	0.0023	451	c.843 others(468): Show c.843-1395_843-1394insAGGCGGCTGCGTTACAGGTGGGCGGGGG AGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGG CAGGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGGAGGCGGCTGCGTTA CAGGTGGGCGGGGGGGCGGCTGCGTTACAGGTGGGCAGGGGGAGGCGGCT GCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGAG GCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCG GGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGG TGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGT TACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGG CTGCGTTACAGGTGGGCAGGGGG	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCARB1_chr12_124771856_124868864	124839644	T T	TCCCAACA others(444): Show TCCCAACAGCACACATGGGCCCCGATTTCTCTGCACCCTCACCCCAACAG CACACATGGGCCCCGATTTCTCCGCATCCTCACCCCAACAGCACACATGG GCCCCGATTTCTCCGCACCCTCACCCCAACAGCACACATGGGCCCCGATT TCTCCGCACCCTCACCCCAACGGCACACATGGGCCCCGATTTCTCCGCAC CCTCACCCCAACAGCACACATGGGCCCCGATTTCTCCGCACCCTCACCCC AACGGCACACATGGGCCCCGATTTCTCTGCACCCTCACCCCAACAGCACA CATGGGCCCCGATTTCTCCGCATCCTCACCCCAACGGCACACATGGGCCC CGATTTCTCCGCACCCTCACCCCAACAGCACACATGGGCCCCGATTTCTC CGCACCCTCACCCCAACAGCACACATGGGCCCCGATTTCTCCGCATCCTC AC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0007 a0007	a0007c0014 a0007c0014	a0007c0014t0004 a0007c0014t0004	a0007c0014t0004g0033 a0007c0014t0004g0033	1	356	0.0028	451	c.127 others(470): Show c.127-21938_127-21937insGTGAGGATGCGGAGAAATCGGGGCCC ATGTGTGCTGTTGGGGTGAGGGTGCGGAGAAATCGGGGCCCATGTGTGCT GTTGGGGTGAGGGTGCGGAGAAATCGGGGCCCATGTGTGCCGTTGGGGTG AGGATGCGGAGAAATCGGGGCCCATGTGTGCTGTTGGGGTGAGGGTGCAG AGAAATCGGGGCCCATGTGTGCCGTTGGGGTGAGGGTGCGGAGAAATCGG GGCCCATGTGTGCTGTTGGGGTGAGGGTGCGGAGAAATCGGGGCCCATGT GTGCCGTTGGGGTGAGGGTGCGGAGAAATCGGGGCCCATGTGTGCTGTTG GGGTGAGGGTGCGGAGAAATCGGGGCCCATGTGTGCTGTTGGGGTGAGGA TGCGGAGAAATCGGGGCCCATGTGTGCTGTTGGGGTGAGGGTGCAGAGAA ATCGGGGCCCATGTGTGCTGTTGGG	SCARB1	ENSG00000073060.17	transcript	ENST00000261693.11	protein_coding	1/12			chr12	TogoVar
SCARB1_chr12_124771856_124868864	124839759	C C	CACCCTCA others(444): Show CACCCTCACCCCAACGGCACACATGGGCCCCGATTTCTCCGCACCCTCAC CCCAACGGCACACATGGGCCCCGATTTCTCCGCACCCTCACCCCAACGGC ACACATGGGCCCCGATTTCTCCGCACCCTCACCCCAACAGCACACATGGG CCCCGATTTCTCCGCACCCTCACCCCAACAGCACACATGGGCCCCGATTT CTCCGCACACTCACCCCAACGGCACACATGGGCCCCGATTTCTCCGCACA CTCACCCCAACGGCACACATGGGCCCCGATTTCTCTGCACCCTCACCCCA ACAGCACACATGGGCCCCGATTTCTCTGCACCCTCACCCCAACAGCACAC ATGGGCCCCGATTTCTCCGCACCCTCACCCCAACAGCACACATGGGCCCC GATTTCTCCACACCCTCACCCCAACAGCACACATGGGCCCCGATTTCTCC GT	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG01257.hp1 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0128 a0001c0001t0005g0084 a0001c0001t0002g0128 a0001c0001t0005g0084	2	356	0.0056	451	c.127 others(470): Show c.127-22053_127-22052insACGGAGAAATCGGGGCCCATGTGTGC TGTTGGGGTGAGGGTGTGGAGAAATCGGGGCCCATGTGTGCTGTTGGGGT GAGGGTGCGGAGAAATCGGGGCCCATGTGTGCTGTTGGGGTGAGGGTGCA GAGAAATCGGGGCCCATGTGTGCTGTTGGGGTGAGGGTGCAGAGAAATCG GGGCCCATGTGTGCCGTTGGGGTGAGTGTGCGGAGAAATCGGGGCCCATG TGTGCCGTTGGGGTGAGTGTGCGGAGAAATCGGGGCCCATGTGTGCTGTT GGGGTGAGGGTGCGGAGAAATCGGGGCCCATGTGTGCTGTTGGGGTGAGG GTGCGGAGAAATCGGGGCCCATGTGTGCCGTTGGGGTGAGGGTGCGGAGA AATCGGGGCCCATGTGTGCCGTTGGGGTGAGGGTGCGGAGAAATCGGGGC CCATGTGTGCCGTTGGGGTGAGGGT	SCARB1	ENSG00000073060.17	transcript	ENST00000261693.11	protein_coding	1/12			chr12	TogoVar
SCARB1_chr12_124771856_124868864	124840024	C C	CACATGGG others(444): Show CACATGGGCCCCGATTTCTCCGCACACTCACCCCAACAGCACACATGGGC CCCGATTTCTCCGCACCCTCACCCCAACAGCACACATGGGCCCCGATTTC TCCGCACCCTCACCCCAACGGCACACATGGGCCCCGATTTCTCCGCACCC TCACCCCAACGGCACACATGGGCCCCGATTTCTCCGCACCCTCACCCCAA CGGCACACATGGGCCCCGATTTCTCCGCACCCTCACCCCAACAGCACACA TGGGCCCCGATTTCTCCGCACCCTCACCCCAACGGCACACATGGGCCCCG ATTTCTCCGCATCCTCACCCCAACGGCACACATGGGCCCCGATTTCTCCG CACACTCACCCCAACGGCACACATGGGCCCCGATTTCTCCGCACCCTCAC CCCAACGGCACACATGGGCCCCGATTTCTCCGCATCCTCACCCCAACAGC AT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0003 a0003c0009t0003	a0003c0009t0003g0123 a0003c0009t0003g0123	1	356	0.0028	451	c.127 others(470): Show c.127-22318_127-22317insATGCTGTTGGGGTGAGGATGCGGAGA AATCGGGGCCCATGTGTGCCGTTGGGGTGAGGGTGCGGAGAAATCGGGGC CCATGTGTGCCGTTGGGGTGAGTGTGCGGAGAAATCGGGGCCCATGTGTG CCGTTGGGGTGAGGATGCGGAGAAATCGGGGCCCATGTGTGCCGTTGGGG TGAGGGTGCGGAGAAATCGGGGCCCATGTGTGCTGTTGGGGTGAGGGTGC GGAGAAATCGGGGCCCATGTGTGCCGTTGGGGTGAGGGTGCGGAGAAATC GGGGCCCATGTGTGCCGTTGGGGTGAGGGTGCGGAGAAATCGGGGCCCAT GTGTGCCGTTGGGGTGAGGGTGCGGAGAAATCGGGGCCCATGTGTGCTGT TGGGGTGAGGGTGCGGAGAAATCGGGGCCCATGTGTGCTGTTGGGGTGAG TGTGCGGAGAAATCGGGGCCCATGT	SCARB1	ENSG00000073060.17	transcript	ENST00000261693.11	protein_coding	1/12			chr12	TogoVar
SCARB1_chr12_124771856_124868864	124840024	C C	CACATGGG others(444): Show CACATGGGCCCCGATTTCTCCGCACCCTCACCCCAACGGCACACATGGGC CCCGATTTCTCCGCACCCTCACCCCAACAGCACACATGGGCCCCGATTTC TCCACACCCTCACCCCAACAGCACACATGGGCCCCGATTTCTCCGTACCC TCACCCCAACGGCACACATGGGCCCCGATTTCTCCGCACCCTCACCCCAA CGGCACACATGGGCCCCGATTTCTCCGCACCCTCACCCCAACGGCACACA TGGGCCCCGATTTCTCCGCACCCTCACCCCAACGGCACACATGGGCCCCG ATTTCTCCGCACACTCACCCCAACGGCACACATGGGCCCCGATTTCTCCG CACACTCACCCCAACGGCACACATGGGCCCCGATTTCTCCGCACCCTCAC CCCAACGGCACACATGGGCCCCGATTTCTCCGCATCCTCACCCCAACAGC AT	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0157 a0001c0001t0002g0157	1	356	0.0028	451	c.127 others(470): Show c.127-22318_127-22317insATGCTGTTGGGGTGAGGATGCGGAGA AATCGGGGCCCATGTGTGCCGTTGGGGTGAGGGTGCGGAGAAATCGGGGC CCATGTGTGCCGTTGGGGTGAGTGTGCGGAGAAATCGGGGCCCATGTGTG CCGTTGGGGTGAGTGTGCGGAGAAATCGGGGCCCATGTGTGCCGTTGGGG TGAGGGTGCGGAGAAATCGGGGCCCATGTGTGCCGTTGGGGTGAGGGTGC GGAGAAATCGGGGCCCATGTGTGCCGTTGGGGTGAGGGTGCGGAGAAATC GGGGCCCATGTGTGCCGTTGGGGTGAGGGTACGGAGAAATCGGGGCCCAT GTGTGCTGTTGGGGTGAGGGTGTGGAGAAATCGGGGCCCATGTGTGCTGT TGGGGTGAGGGTGCGGAGAAATCGGGGCCCATGTGTGCCGTTGGGGTGAG GGTGCGGAGAAATCGGGGCCCATGT	SCARB1	ENSG00000073060.17	transcript	ENST00000261693.11	protein_coding	1/12			chr12	TogoVar
SCARB1_chr12_124771856_124868864	124840024	C C	CACATGGG others(444): Show CACATGGGCCCCGATTTCTCCGCACCCTCACCCCAACGGCACACATGGGC CCCGATTTCTCCGCACCCTCACCCCAACGGCACACATGGGCCCCGATTTC TCCGCACCCTCACCCCAACGGCACACATGGGCCCCGATTTCTCCGCACCC TCACCCCAACGGCACACATGGGCCCCGATTTCTCCGCACCCTCACCCCAA CGGCACACATGGGCCCCGATTTCTCCGCACCCTCACCCCAACGGCACACA TGGGCCCCGATTTCTCCGCACCCTCACCCCAACGGCACACATGGGCCCCG ATTTCTCCGCACCCTCACCCCAACGGCACACATGGGCCCCGATTTCTCCG CACACTCACCCCAACGGCACACATGGGCCCCGATTTCTCCGCATCCTCAC CCCAACGGCACACATGGGCCCCGATTTCTCCGCATCCTCACCCCAACAGC AT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02258.hp1 HG02258.hp2 others(5): Show HG01175.hp1 HG02258.hp1 HG02258.hp2 HG02451.hp2 HG02630.hp2 HG02818.hp2 HG02886.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0002t0001	a0001c0001t0001g0146 a0001c0001t0001g0162 a0001c0001t0003g0117 others(5): Show a0001c0001t0001g0146 a0001c0001t0001g0162 a0001c0001t0003g0117 a0001c0001t0003g0169 a0001c0001t0003g0236 a0001c0001t0006g0118 a0001c0001t0006g0120 a0001c0002t0001g0256	8	356	0.0225	451	c.127 others(470): Show c.127-22318_127-22317insATGCTGTTGGGGTGAGGATGCGGAGA AATCGGGGCCCATGTGTGCCGTTGGGGTGAGGATGCGGAGAAATCGGGGC CCATGTGTGCCGTTGGGGTGAGTGTGCGGAGAAATCGGGGCCCATGTGTG CCGTTGGGGTGAGGGTGCGGAGAAATCGGGGCCCATGTGTGCCGTTGGGG TGAGGGTGCGGAGAAATCGGGGCCCATGTGTGCCGTTGGGGTGAGGGTGC GGAGAAATCGGGGCCCATGTGTGCCGTTGGGGTGAGGGTGCGGAGAAATC GGGGCCCATGTGTGCCGTTGGGGTGAGGGTGCGGAGAAATCGGGGCCCAT GTGTGCCGTTGGGGTGAGGGTGCGGAGAAATCGGGGCCCATGTGTGCCGT TGGGGTGAGGGTGCGGAGAAATCGGGGCCCATGTGTGCCGTTGGGGTGAG GGTGCGGAGAAATCGGGGCCCATGT	SCARB1	ENSG00000073060.17	transcript	ENST00000261693.11	protein_coding	1/12			chr12	TogoVar
SCARB1_chr12_124771856_124868864	124840024	C C	CACATGGG others(444): Show CACATGGGCCCCGATTTCTCCGCACCCTCACCCCAACGGCACACATGGGC CCCGATTTCTCCGCACCCTCACCCCAACGGCACACATGGGCCCCGATTTC TCCGCACCCTCACCCCAACGGCACACATGGGCCCCGATTTCTCCGCACCC TCACCCCAACGGCACACATGGGCCCCGATTTCTCCGCACCCTCACCCCAA CGGCACACATGGGCCCCGATTTCTCCGCACCCTCACCCCAACGGCACACA TGGGCCCCGATTTCTCCGCACCCTCACCCCAACGGCACACATGGGCCCCG ATTTCTCCGCACCCTCACCCCAACGGCACACATGGGCCCCGATTTCTCCG CACACTCACCCCAACGGCACACATGGGCCCCGATTTCTCCGCATCCTCAC CCCAACGGCACACATGGGCCCCGATTTCTCCGCATCCTCACCCCAACGGC AT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0028 a0001c0001t0017g0028	1	356	0.0028	451	c.127 others(470): Show c.127-22318_127-22317insATGCCGTTGGGGTGAGGATGCGGAGA AATCGGGGCCCATGTGTGCCGTTGGGGTGAGGATGCGGAGAAATCGGGGC CCATGTGTGCCGTTGGGGTGAGTGTGCGGAGAAATCGGGGCCCATGTGTG CCGTTGGGGTGAGGGTGCGGAGAAATCGGGGCCCATGTGTGCCGTTGGGG TGAGGGTGCGGAGAAATCGGGGCCCATGTGTGCCGTTGGGGTGAGGGTGC GGAGAAATCGGGGCCCATGTGTGCCGTTGGGGTGAGGGTGCGGAGAAATC GGGGCCCATGTGTGCCGTTGGGGTGAGGGTGCGGAGAAATCGGGGCCCAT GTGTGCCGTTGGGGTGAGGGTGCGGAGAAATCGGGGCCCATGTGTGCCGT TGGGGTGAGGGTGCGGAGAAATCGGGGCCCATGTGTGCCGTTGGGGTGAG GGTGCGGAGAAATCGGGGCCCATGT	SCARB1	ENSG00000073060.17	transcript	ENST00000261693.11	protein_coding	1/12			chr12	TogoVar
SCARB1_chr12_124771856_124868864	124840024	C C	CACATGGG others(444): Show CACATGGGCCCCGATTTCTCCGCACCCTCACCCCAACGGCACACATGGGC CCCGATTTCTCCGCACCCTCACCCCAACGGCACACATGGGCCCCGATTTC TCCGCACCCTCACCCCAACGGCACACATGGGCCCCGATTTCTCCGCACCC TCACCCCAACGGCACACATGGGCCCCGATTTCTCCGCACCCTCACCCCAA CGGCACACATGGGCCCCGATTTCTCCGCATCCTCACCCCAACGGCACACA TGGGCCCCGATTTCTCCGCACACTCACCCCAACGGCACACATGGGCCCCG ATTTCTCCGCATCCTCACCCCAACGGCACACATGGGCCCCGATTTCTCCG CATCCTCACCCCAACGGCACACATGGGCCCCGATTTCTCCGCACACTCAC CCCAACGGCACACATGGGCCCCGATTTCTCCGCATCCTCACCCCAACGGC AT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01433.hp1 HG01928.hp1 others(7): Show HG00280.hp1 HG01433.hp1 HG01928.hp1 HG02698.hp1 HG02738.hp2 HG03834.hp1 HG04199.hp2 HG04228.hp2 NA18995.hp1 NA20905.hp2	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0001c0002 a0001c0010 others(2): Show a0001c0001 a0001c0002 a0001c0010 a0003c0009 a0006c0015	a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 others(4): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 a0001c0002t0007 a0001c0010t0023 a0003c0009t0001 a0006c0015t0001	a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0002t0001g0227 others(7): Show a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0002t0001g0227 a0001c0002t0003g0198 a0001c0002t0003g0207 a0001c0002t0007g0201 a0001c0002t0007g0216 a0001c0010t0023g0166 a0003c0009t0001g0222 a0006c0015t0001g0108	10	356	0.0281	451	c.127 others(470): Show c.127-22318_127-22317insATGCCGTTGGGGTGAGGATGCGGAGA AATCGGGGCCCATGTGTGCCGTTGGGGTGAGTGTGCGGAGAAATCGGGGC CCATGTGTGCCGTTGGGGTGAGGATGCGGAGAAATCGGGGCCCATGTGTG CCGTTGGGGTGAGGATGCGGAGAAATCGGGGCCCATGTGTGCCGTTGGGG TGAGTGTGCGGAGAAATCGGGGCCCATGTGTGCCGTTGGGGTGAGGATGC GGAGAAATCGGGGCCCATGTGTGCCGTTGGGGTGAGGGTGCGGAGAAATC GGGGCCCATGTGTGCCGTTGGGGTGAGGGTGCGGAGAAATCGGGGCCCAT GTGTGCCGTTGGGGTGAGGGTGCGGAGAAATCGGGGCCCATGTGTGCCGT TGGGGTGAGGGTGCGGAGAAATCGGGGCCCATGTGTGCCGTTGGGGTGAG GGTGCGGAGAAATCGGGGCCCATGT	SCARB1	ENSG00000073060.17	transcript	ENST00000261693.11	protein_coding	1/12			chr12	TogoVar
SCARB1_chr12_124771856_124868864	124840024	C C	CACATGGG others(444): Show CACATGGGCCCCGATTTCTCCGCACCCTCACCCCAACGGCACACATGGGC CCCGATTTCTCCGCACCCTCACCCCAACGGCACACATGGGCCCCGATTTC TCCGCACCCTCACCCCAACGGCACACATGGGCCCCGATTTCTCCGCATCC TCACCCCAACGGCACACATGGGCCCCGATTTCTCCGCACACTCACCCCAA CGGCACACATGGGCCCCGATTTCTCCGCACCCTCACCCCAACGGCACACA TGGGCCCCGATTTCTCCGCACCCTCACCCCAACGGCACACATGGGCCCCG ATTTCTCCGCACGCTCACCCCAACGGCACACATGGGCCCCGATTTCTCCG CACCCTCACCCCAACGGCACACATGGGCCCCGATTTCTCCGCACCCTCAC CCCAACGGCACACATGGGCCCCGATTTCTCCGCATCCTCACCCCAACAGC AT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0025 a0001c0001t0003g0025	1	356	0.0028	451	c.127 others(470): Show c.127-22318_127-22317insATGCTGTTGGGGTGAGGATGCGGAGA AATCGGGGCCCATGTGTGCCGTTGGGGTGAGGGTGCGGAGAAATCGGGGC CCATGTGTGCCGTTGGGGTGAGGGTGCGGAGAAATCGGGGCCCATGTGTG CCGTTGGGGTGAGCGTGCGGAGAAATCGGGGCCCATGTGTGCCGTTGGGG TGAGGGTGCGGAGAAATCGGGGCCCATGTGTGCCGTTGGGGTGAGGGTGC GGAGAAATCGGGGCCCATGTGTGCCGTTGGGGTGAGTGTGCGGAGAAATC GGGGCCCATGTGTGCCGTTGGGGTGAGGATGCGGAGAAATCGGGGCCCAT GTGTGCCGTTGGGGTGAGGGTGCGGAGAAATCGGGGCCCATGTGTGCCGT TGGGGTGAGGGTGCGGAGAAATCGGGGCCCATGTGTGCCGTTGGGGTGAG GGTGCGGAGAAATCGGGGCCCATGT	SCARB1	ENSG00000073060.17	transcript	ENST00000261693.11	protein_coding	1/12			chr12	TogoVar
SDK1_chr7_3296252_4274000	3976616	C C	CCACGCAG others(444): Show CCACGCAGACGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCT GCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGC TGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGG CTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAG GCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGA GGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTG AGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCT GAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGC TGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGG CT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0060 a0001c0060	a0001c0060t0041 a0001c0060t0041	a0001c0060t0041g0080 a0001c0060t0041g0080	1	116	0.0086	451	c.199 others(470): Show c.1994+2071_1994+2072insCACGCAGACGGTCCTCCAGAGAATCA CTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATC ACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAAT CACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAA TCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGA ATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAG AATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGA GAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAG AGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCA GAGAATCACTGAGGGTCCCGGGGCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44			chr7	TogoVar
SDK1_chr7_3296252_4274000	3976616	C C	CCACGCAG others(444): Show CCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCT GCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGC TGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGG CTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAG GCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGA GGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTG AGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCT GAGGCTGCCACGCAGAGGATCCTCCAGAGAATCACTGAGGGTCCCGGGGC TGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGG CT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0095 a0001c0002t0002g0095	1	116	0.0086	451	c.199 others(470): Show c.1994+2071_1994+2072insCACGCAGAGGGTCCTCCAGAGAATCA CTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATC ACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAAT CACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAA TCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGA ATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAG AATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGA GAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGATCCTCCAG AGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCA GAGAATCACTGAGGGTCCCGGGGCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44			chr7	TogoVar
SDK1_chr7_3296252_4274000	3977201	C C	CCACACAG others(444): Show CCACACAGAGGATCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCT GCCACACAGAGGATCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGC TGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGG CTGCCACACAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAG GCTGCCACACAGAGGATCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGA GGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTG AGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCT GAGGCTGCCACACAGGGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGC TGAGGCTGCCACACAGAGGATCCTCCAGAGAATCACTGGGGGTCCCGGGG CT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0002 a0001c0010t0002	a0001c0010t0002g0085 a0001c0010t0002g0085	1	116	0.0086	451	c.199 others(470): Show c.1994+2656_1994+2657insCACACAGAGGATCCTCCAGAGAATCA CTGAGGGTCCCGGGGCTGAGGCTGCCACACAGAGGATCCTCCAGAGAATC ACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAAT CACTGAGGGTCCCGGGGCTGAGGCTGCCACACAGAGGGTCCTCCAGAGAA TCACTGGGGGTCCCGGGGCTGAGGCTGCCACACAGAGGATCCTCCAGAGA ATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAG AATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGA GAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACACAGGGGGTCCTCCAG AGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACACAGAGGATCCTCCA GAGAATCACTGGGGGTCCCGGGGCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44			chr7	TogoVar
SDK1_chr7_3296252_4274000	3977201	C C	CCACACAG others(444): Show CCACACAGAGGATCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCT GCCACACAGAGGATCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGC TGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGG CTGCCACACAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAG GCTGCCACACAGAGGATCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGA GGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTG AGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCT GAGGCTGCCACACAGGGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGC TGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGG CT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0095 a0001c0095	a0001c0095t0029 a0001c0095t0029	a0001c0095t0029g0050 a0001c0095t0029g0050	1	116	0.0086	451	c.199 others(470): Show c.1994+2656_1994+2657insCACACAGAGGATCCTCCAGAGAATCA CTGAGGGTCCCGGGGCTGAGGCTGCCACACAGAGGATCCTCCAGAGAATC ACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAAT CACTGAGGGTCCCGGGGCTGAGGCTGCCACACAGAGGGTCCTCCAGAGAA TCACTGGGGGTCCCGGGGCTGAGGCTGCCACACAGAGGATCCTCCAGAGA ATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAG AATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGA GAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACACAGGGGGTCCTCCAG AGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCA GAGAATCACTGGGGGTCCCGGGGCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44			chr7	TogoVar
SDK1_chr7_3296252_4274000	4083708	T T	TCCTCCCT others(444): Show TCCTCCCTCCCTTCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCCCTCC CTCCTTTACTTCCTCCCTCCCTCCTTTACTTCCTCCCTCCCTTCTTTACT TCCTCCCTCCCTTCTTTACTTCCTCCCTCCCTCCTTTACTTCCTCCCTCC CTCCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCCCTTCTTTACTTCCT CCCTTCTTTACTTCTTCCCTCCCTCCTTTACTTCCTCTCTCCCTTCTTTA CTTCTTCCCTCCCTCCTTTACTTCCTCTCTCCCTTCTTTACTTCCTCCCT CCCTTCTTTACTTCCTCCCTTCCTTCTTCTTCCCTCCCTCCTTTACTTCC TCTCTCCCTTCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCCCTTCCTT CTTTACTTCCTCCCTCCCTCCTTTACTTCCTCCCTCCCTCCTTTACTTGC TC	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG03471.hp1 HG02896.hp1 HG03471.hp1	a0001 a0001	a0001c0040 a0001c0060 a0001c0040 a0001c0060	a0001c0040t0001 a0001c0060t0041 a0001c0040t0001 a0001c0060t0041	a0001c0040t0001g0040 a0001c0060t0041g0080 a0001c0040t0001g0040 a0001c0060t0041g0080	2	116	0.0172	451	c.332 others(470): Show c.3324+4149_3324+4150insCTCCCTTCTTTACTTCCTCCCTCCCT CCTTTACTTCCTCCCTCCCTCCTTTACTTCCTCCCTCCCTTCTTTACTTC CTCCCTCCCTTCTTTACTTCCTCCCTCCCTCCTTTACTTCCTCCCTCCCT CCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCCCTTCTTTACTTCCTCC CTTCTTTACTTCTTCCCTCCCTCCTTTACTTCCTCTCTCCCTTCTTTACT TCTTCCCTCCCTCCTTTACTTCCTCTCTCCCTTCTTTACTTCCTCCCTCC CTTCTTTACTTCCTCCCTTCCTTCTTCTTCCCTCCCTCCTTTACTTCCTC TCTCCCTTCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCCCTTCCTTCT TTACTTCCTCCCTCCCTCCTTTACTTCCTCCCTCCCTCCTTTACTTGCTC CCTCCCTCCCTTCTTTACTTCCTCC	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	22/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SLC22A23_chr6_3263973_3462050	3356090	C C	CGGGGGGG others(444): Show CGGGGGGGGCGGGAGGGGGAGGAGGCGGGGGGGCGGCAGGGGGGAGGCGG GGGGGCGGGAGGGGAGGAGGCGGGGAGGCGGGAGGGGGAGGAGGCGGGGG GGCGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGGGGAGGCGGGGGGGCG GGAGGGGAGGAGGCGGGGGGGCGGGAGGGGGCCGGAGGGGGAGGAGGCGG GGGGGGGCGGGGGGGCGGGAGGGGCGGGAGGGGGAGGAGGCGGGGGGGCG GGAGGGGGGAGGCGGGGGGGCGGGAGGGGGCGGGAGGGGAAGGAGGCGGG GGGGGCGGGGGGGAGGGAGGGGAAGGAGGCGGGGGGGGCGGGAGGGGGAG GACGCGGGGGGGGCGGGGGGGGCGGGAGGGGGAGGAGGCGGGGGGGCGGG AGGGGGGAGGCGGGAGGGGAAGGAGGCGGGGGGGGGCGGGGGGGGCGGGA GG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	222	0.0045	451	c.914 others(470): Show c.914-32089_914-32088insCCTCCCGCCCCCCCCGCCCCCCCCCG CCTCCTTCCCCTCCCGCCTCCCCCCTCCCGCCCCCCCGCCTCCTCCCCCT CCCGCCCCCCCCGCCCCCCCCGCGTCCTCCCCCTCCCGCCCCCCCCGCCT CCTTCCCCTCCCTCCCCCCCGCCCCCCCCGCCTCCTTCCCCTCCCGCCCC CTCCCGCCCCCCCGCCTCCCCCCTCCCGCCCCCCCGCCTCCTCCCCCTCC CGCCCCTCCCGCCCCCCCGCCCCCCCCCGCCTCCTCCCCCTCCGGCCCCC TCCCGCCCCCCCGCCTCCTCCCCTCCCGCCCCCCCGCCTCCCCCCTCCCG CCCCCCCGCCTCCTCCCCCTCCCGCCCCCCCGCCTCCTCCCCCTCCCGCC TCCCCGCCTCCTCCCCTCCCGCCCCCCCGCCTCCCCCCTGCCGCCCCCCC GCCTCCTCCCCCTCCCGCCCCCCCC	SLC22A23	ENSG00000137266.15	transcript	ENST00000406686.8	protein_coding	3/9			chr6	TogoVar
SLC35F1_chr6_117902264_118322671	118071064	G G	GTATATAT others(444): Show GTATATATATACACATAGTATATATATTCTACGTGTATATATATACACAT AGTATATATATTCTACGTATATATATACACATAGTATATATATTCTACGT ATATATATACACATAGTATATATATTCTACGTATATATATACACATAGTA TATATATTCTACGTATATATATACACATAGTATATATATTCTACGTGTGT ATATATATACACATAGTATATATATTCTACGTGTGTATATATATACACAT AGTATATATATTCTACGTGTATGTATACACATATATACATAGAATATATA TACTATGTGTATATATATACGTAGAATATATATACTATGTGTATATATAC GTAGAATATATATACTATGTGTGTATATATACGTAGAATATATATACTAT GTGTATATATATACGTAGAATATATATACTATGTGTATATATATACGTAG AA	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0048 a0001c0001t0018g0048	1	182	0.0055	451	c.174 others(470): Show c.174-83373_174-83372insTACACATAGTATATATATTCTACGTG TATATATATACACATAGTATATATATTCTACGTATATATATACACATAGT ATATATATTCTACGTATATATATACACATAGTATATATATTCTACGTATA TATATACACATAGTATATATATTCTACGTATATATATACACATAGTATAT ATATTCTACGTGTGTATATATATACACATAGTATATATATTCTACGTGTG TATATATATACACATAGTATATATATTCTACGTGTATGTATACACATATA TACATAGAATATATATACTATGTGTATATATATACGTAGAATATATATAC TATGTGTATATATACGTAGAATATATATACTATGTGTGTATATATACGTA GAATATATATACTATGTGTATATATATACGTAGAATATATATACTATGTG TATATATATACGTAGAATATATATA	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC35F1_chr6_117902264_118322671	118071064	G G	GTATATAT others(444): Show GTATATATATACACATAGTATATATATTCTACGTGTATATATATACACAT AGTATATATATTCTACGTATATATATACACATAGTATATATATTCTACGT ATATATATACACATAGTATATATATTCTACGTATATATATACACATAGTA TATATATTCTACGTATATATATACACATAGTATATATATTCTACGTGTGT ATATATATACACATAGTATATATATTCTACGTGTGTATATATATACACAT AGTATATATATTCTACGTGTATGTATACACATATATACATAGAATATATA TACTATGTGTATATATATACGTAGAATATATATACTATGTGTATATATAC GTAGAATATATATACTATGTGTGTATATATACGTAGAATATATATACTAT GTGTGTATATATACGTAGAATATATATACTATGTGTATATATATACGTAG AA	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	182	0.0055	451	c.174 others(470): Show c.174-83373_174-83372insTACACATAGTATATATATTCTACGTG TATATATATACACATAGTATATATATTCTACGTATATATATACACATAGT ATATATATTCTACGTATATATATACACATAGTATATATATTCTACGTATA TATATACACATAGTATATATATTCTACGTATATATATACACATAGTATAT ATATTCTACGTGTGTATATATATACACATAGTATATATATTCTACGTGTG TATATATATACACATAGTATATATATTCTACGTGTATGTATACACATATA TACATAGAATATATATACTATGTGTATATATATACGTAGAATATATATAC TATGTGTATATATACGTAGAATATATATACTATGTGTGTATATATACGTA GAATATATATACTATGTGTGTATATATACGTAGAATATATATACTATGTG TATATATATACGTAGAATATATATA	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMAD2_chr18_47803957_47935659	47850548	A A	AATATATA others(444): Show AATATATATTATGTATAATATATATTATATATTATATATATATTATATAT ATTATGTATACTATATATTATATATTATATATATTATGTATACTATATAT TATATATTATATATATTATGTATACTATATATTATATATTATATATATAT TATATATATTATGTATACTATATATTATATATTATATATATATTATATAT ATTATGTATACTATATATTATATATTATATATATATTATATATATTATGT ATAATATATATTATATATTATATATATATTATATATATTATGTATAATAT ATATTATATATTATATATATATTATATATATTATGTATAATATATATTAT ATATTATATATATATTATATATATTATGTATAATATATATTATATATTAT ATATATATTATATATATTATGTATAATATATATTATATATTATATATATA TT	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0278 a0001c0001t0005g0278	1	310	0.0032	451	c.784 others(466): Show c.784+725_784+726insAATATATATATAATATATAATATATATTAT ACATAATATATATAATATATATATAATATATAATATATATTATACATAAT ATATATAATATATATATAATATATAATATATATTATACATAATATATATA ATATATATATAATATATAATATATATTATACATAATATATATAATATATA TATAATATATAATATATATTATACATAATATATATAATATATATATAATA TATAATATATAGTATACATAATATATATAATATATATATAATATATAATA TATAGTATACATAATATATATAATATATATATAATATATAATATATAGTA TACATAATATATATAATATATAATATATAGTATACATAATATATATAATA TATAATATATAGTATACATAATATATATAATATATATATAATATATAATA TATATTATACATAATATATAT	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SMOC2_chr6_168436184_168672992	168653613	T T	TCCTGAGC others(444): Show TCCTGAGCTCCAACCAAATGTTAGGAACTCACCAACCCTCTACCTGAGCT CCAACCAAATGTTAGGAACTCACCACCCCTGTACCTGAGCTCCAACCAAA TGTTAGGAACTCACCAACCCTGTACCTGAGCTCCAACCAGATGTTAGGAA CTCACCACCCCTGTACCTGAGCTCCAACCAGATGTTAGGAACTCACCAAC CCTGCACCTGAGCTCCAACCAGATGTTAGGAACTCACCAACCCTGCACCT GAGCTCCAACCAGATGTTAGGAACTCACCAACCCTGCACCTGAGCTCCAA CCAGATGTTAGGAACTCACCAACCCTGCACCTGAGCTCCAACCAGATGTT AGGAACTCACCAACCCTGCACCTGAGCTCCAACCAGATGTTAGGAACTCA CCAACCCTGCTCCTGAGCTCCAACCAAATGTTAGGAACTCACCAACCCTC TA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0001 a0002c0010t0001	a0002c0010t0001g0130 a0002c0010t0001g0130	1	180	0.0056	451	c.128 others(468): Show c.1285+459_1285+460insCCCCTGTACCTGAGCTCCAACCAAATGT TAGGAACTCACCAACCCTGTACCTGAGCTCCAACCAGATGTTAGGAACTC ACCACCCCTGTACCTGAGCTCCAACCAGATGTTAGGAACTCACCAACCCT GCACCTGAGCTCCAACCAGATGTTAGGAACTCACCAACCCTGCACCTGAG CTCCAACCAGATGTTAGGAACTCACCAACCCTGCACCTGAGCTCCAACCA GATGTTAGGAACTCACCAACCCTGCACCTGAGCTCCAACCAGATGTTAGG AACTCACCAACCCTGCACCTGAGCTCCAACCAGATGTTAGGAACTCACCA ACCCTGCTCCTGAGCTCCAACCAAATGTTAGGAACTCACCAACCCTCTAC CTGAGCTCCAACCAAATGTTAGGAACTCACCAACCCTCTACCTGAGCTCC AACCAAATGTTAGGAACTCACCA	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168653934	A A	ACCCTGCT others(444): Show ACCCTGCTCCTGAGCTCCAACCAGATGTTAGGAACTCACCAACCCTGTAC CTGAGCTCCAACCAGATGTTAGGAACTCACCAACCCTCTACCTGAGCTCC AACCAGATGTTAGGAACTCACCAACCCTGCACCTGAGCTCCAACCAGATG TTAGGAACTCACCAACCCTGCACCTGAGCTCCAACCAGATGTTAGGAACT CACCAACCCTGCACCTGAGCTCCAACCAGATGTTAGGAACTCACCAACCC TGCTCCTGAGCTCCAACCAAATGTTAGGAACTCACCAACCCTCTACCTGA GCTCCAACCAAATGTTAGGAACTCACCAACCCTCTACCTGAGCTCCAACC AAATGTTAGGAACTCACCAACCCTCTACCTGAGCTCCAACCAAATGTTAG GAACTCACCACCCCTGTACCTGAGCTCCAACCAAATGTTAGGAACTCACC AC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02896.hp2 HG02897.hp1 HG02109.hp1 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0001 a0001c0013t0002 a0001c0001t0001 a0001c0013t0002	a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0013t0002g0033 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0013t0002g0033	3	180	0.0167	451	c.128 others(468): Show c.1285+712_1285+713insTCCTGAGCTCCAACCAGATGTTAGGAAC TCACCAACCCTGTACCTGAGCTCCAACCAGATGTTAGGAACTCACCAACC CTCTACCTGAGCTCCAACCAGATGTTAGGAACTCACCAACCCTGCACCTG AGCTCCAACCAGATGTTAGGAACTCACCAACCCTGCACCTGAGCTCCAAC CAGATGTTAGGAACTCACCAACCCTGCACCTGAGCTCCAACCAGATGTTA GGAACTCACCAACCCTGCTCCTGAGCTCCAACCAAATGTTAGGAACTCAC CAACCCTCTACCTGAGCTCCAACCAAATGTTAGGAACTCACCAACCCTCT ACCTGAGCTCCAACCAAATGTTAGGAACTCACCAACCCTCTACCTGAGCT CCAACCAAATGTTAGGAACTCACCACCCCTGTACCTGAGCTCCAACCAAA TGTTAGGAACTCACCACCCCTGC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168653975	A A	ACCCTGCA others(444): Show ACCCTGCACCTGAGCTCCAACCAGATGTTAGGAACTCACCAACCCTGCTC CTGAGCTCCAACCAAATGTTAGGAACTCACCAACCCTGTACCTGAGCTCC AACCAAATGTTAGGAACTCACCAACCCTGCACCTGAGCTCCAACCAGATG TTAGGAACTCACCAACCCTGCACCTGAGCTCCAACCAGATGTTAGGAACT CACCAACCCTGCACCTGAGCTCCAACCAGATGTTAGGAACTCACCAACCC TGCTCCTGAGCTCCAACCAAATGTTAGGAACTCACCAACCCTCTACCTGA GCTCCAACCAAATGTTAGGAACTCACCAACCCTCTACCTGAGCTCCAACC AAATGTTAGGAACTCACCACCCCTGTACCTGAGCTCCAACCAAATGTTAG GAACTCACCACCCCTGTACCTGAGCTCCAACCAGATGTTAGGAACTCACC AC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	180	0.0056	451	c.128 others(468): Show c.1285+794_1285+795insTCCTGAGCTCCAACCAAATGTTAGGAAC TCACCAACCCTGTACCTGAGCTCCAACCAAATGTTAGGAACTCACCAACC CTGCACCTGAGCTCCAACCAGATGTTAGGAACTCACCAACCCTGCACCTG AGCTCCAACCAGATGTTAGGAACTCACCAACCCTGCACCTGAGCTCCAAC CAGATGTTAGGAACTCACCAACCCTGCTCCTGAGCTCCAACCAAATGTTA GGAACTCACCAACCCTCTACCTGAGCTCCAACCAAATGTTAGGAACTCAC CAACCCTCTACCTGAGCTCCAACCAAATGTTAGGAACTCACCACCCCTGT ACCTGAGCTCCAACCAAATGTTAGGAACTCACCACCCCTGTACCTGAGCT CCAACCAGATGTTAGGAACTCACCACCCCTGCACCTGAGCTCCAACCAGA TGTTAGGAACTCACCAACCCTGC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168653975	A A	ACCCTGCT others(444): Show ACCCTGCTCCTGAGCTCCAACCAGATGTTAGGAACTCACCAACCCTGTAC CTGAGCTCCAACCAGATGTTAGGAACTCACCAACCCTCTACCTGAGCTCC AACCAGATGTTAGGAACTCACCAACCCTGCACCTGAGCTCCAACCAGATG TTAGGAACTCACCAACCCTGCACCTGAGCTCCAACCAGATGTTAGGAACT CACCAACCCTGCACCTGAGCTCCAACCAGATGTTAGGAACTCACCAACCC TGCTCCTGAGCTCCAACCAAATGTTAGGAACTCACCAACCCTCTACCTGA GCTCCAACCAAATGTTAGGAACTCACCAACCCTCTACCTGAGCTCCAACC AAATGTTAGGAACTCACCAACCCTCTACCTGAGCTCCAACCAAATGTTAG GAACTCACCACCCCTGTACCTGAGCTCCAACCAAATGTTAGGAACTCACC AC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02572.hp1 HG02809.hp1 others(4): Show HG01167.hp1 HG02572.hp1 HG02809.hp1 HG03130.hp2 HG03139.hp1 HG03516.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 a0001c0001 a0001c0002 a0001c0008	a0001c0001t0001 a0001c0002t0002 a0001c0008t0002 a0001c0001t0001 a0001c0002t0002 a0001c0008t0002	a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 others(4): Show a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0124 a0001c0002t0002g0043 a0001c0002t0002g0044 a0001c0008t0002g0042	7	180	0.0389	451	c.128 others(468): Show c.1285+753_1285+754insTCCTGAGCTCCAACCAGATGTTAGGAAC TCACCAACCCTGTACCTGAGCTCCAACCAGATGTTAGGAACTCACCAACC CTCTACCTGAGCTCCAACCAGATGTTAGGAACTCACCAACCCTGCACCTG AGCTCCAACCAGATGTTAGGAACTCACCAACCCTGCACCTGAGCTCCAAC CAGATGTTAGGAACTCACCAACCCTGCACCTGAGCTCCAACCAGATGTTA GGAACTCACCAACCCTGCTCCTGAGCTCCAACCAAATGTTAGGAACTCAC CAACCCTCTACCTGAGCTCCAACCAAATGTTAGGAACTCACCAACCCTCT ACCTGAGCTCCAACCAAATGTTAGGAACTCACCAACCCTCTACCTGAGCT CCAACCAAATGTTAGGAACTCACCACCCCTGTACCTGAGCTCCAACCAAA TGTTAGGAACTCACCACCCCTGC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMYD3_chr1_245744347_246512279	245798402	A A	ACCACACA others(444): Show ACCACACATACACACACACACACATACACACACAAACACACACACATACA CACCACACACACATACCCACACACACACATACATACACACACACCACACA CCCCCACACACATACACACACACAAAAATACACATACACACAAACACACA AATACACACATACACACAAAAATACACATACACACAAACACACAAATACA CACACAGAAATACACATACACACACACACCCACATACCCACACACACATA CCCACACACCCACAAACACACATACACACACACACACACACAAATACACA CACATACATAACACACCCACACACATACACACACAATACACATACACACA AACACACAAATACACACATACACATACAAAAATACACACATACACACACA CAAATACACACATACACACACATACCCACACACACACATACACACACATA CT	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0109 a0002c0003t0001g0109	1	150	0.0067	451	c.107 others(472): Show c.1077-34254_1077-34253insAGTATGTGTGTGTATGTGTGTGTG TGGGTATGTGTGTGTATGTGTGTATTTGTGTGTGTGTATGTGTGTATTTT TGTATGTGTATGTGTGTATTTGTGTGTTTGTGTGTATGTGTATTGTGTGT GTATGTGTGTGGGTGTGTTATGTATGTGTGTGTATTTGTGTGTGTGTGTG TGTGTATGTGTGTTTGTGGGTGTGTGGGTATGTGTGTGTGGGTATGTGGG TGTGTGTGTGTATGTGTATTTCTGTGTGTGTATTTGTGTGTTTGTGTGTA TGTGTATTTTTGTGTGTATGTGTGTATTTGTGTGTTTGTGTGTATGTGTA TTTTTGTGTGTGTGTATGTGTGTGGGGGTGTGTGGTGTGTGTGTATGTAT GTGTGTGTGTGGGTATGTGTGTGTGGTGTGTATGTGTGTGTGTTTGTGTG TGTATGTGTGTGTGTGTGTATGTGTGG	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	10/11			chr1	TogoVar
SYT2_chr1_202585596_202715454	202672766	A A	AGAGGGAG others(444): Show AGAGGGAGGGGGGGAGGGGGAGAGAGAGGGGGAGGGGGAGAGAGAGGGGG AGGGGGAGAGAGTGGGGAGGGAGAGAGAGAAGGGGAGGCGGAGAGGGAGG GAGGGGGGAGAGAGAGGGGGAGGGAGGGAGGGGGAGAGAGGGGGAGGGGG GGAGAGAGGGGGAGGGAGGGGGGAGAGGGGGGGAGGGAGGGGGGAGAGAG AGGGGGAGGGAGGGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGG GAGAGAGAGGGGGAGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGAG GGGGGAGAGAGAGGGGGAGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAG GGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGG GAGAGAGAGGGGGAGGGAGGGGGGAGAGAGGGGGGGGAGAGAGAGGGGGA GG	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0061 a0001c0002t0061	a0001c0002t0061g0153 a0001c0002t0061g0153	1	276	0.0036	451	c.-18 others(470): Show c.-18+37491_-18+37492insCCTCCCCCTCTCTCTCCCCCCCCTCT CTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCC CCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCC TCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCTCCCCCTCTCTCTCC CCCCTCCCTCCCTCCCCCTCTCTCTCCCCCTCCCTCCCCCTCTCTCTCCC CCCTCCCTCCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCCC TCTCCCCCCTCCCTCCCCCTCTCTCCCCCCCTCCCCCTCTCTCCCCCTCC CTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCTCTCCGCCTCCCCTTCTC TCTCTCCCTCCCCACTCTCTCCCCCTCCCCCTCTCTCTCCCCCTCCCCCT CTCTCTCCCCCTCCCCCCCTCCCTC	SYT2	ENSG00000143858.12	transcript	ENST00000367268.5	protein_coding	1/8			chr1	TogoVar
TBC1D22A_chr22_46757650_47180693	47128216	C C	CCATCCTC others(444): Show CCATCCTCCCTCCACCCCACCCATCCTCCCCTCTGCCCCACCCATCCCCC CCTCCCCTCACCCATCCCTCCCTCCGCCCCACCCATCCCTCCCTCCGCCC TACCCATCCTCCTCCGCCCCACCCACCCCCCCTCCGCCCCACCCATCCCC CCTCCCCTCACCCATCCCTCCCTCCGCCCCACCCATCCCCCCTCCCCTCA CCCATCCCTCCCTCCCCCCCACCCATCCCTCCCTCCGCCCCACCCATCCC TCCTCCGCCCCACCCACCACCCCTCCGCCCCACCCATCCCCCCTCCCCTC ACCCATCCCTCCATCTTCCCTCCACCCCACCCATTCTCCCCTCCACCCCA CCCATCCCCCATCCTCCCTCCACCCCACCCATCCCTCCTCCGCCCCACCC ACCACCCCTCCACCCCACCCATCCCCCCTTCCCTCACCCATCCCTCCCTC CG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0017 a0001c0001t0024g0017	1	112	0.0089	451	c.142 others(472): Show c.1425+16614_1425+16615insATCCTCCCTCCACCCCACCCATCC TCCCCTCTGCCCCACCCATCCCCCCCTCCCCTCACCCATCCCTCCCTCCG CCCCACCCATCCCTCCCTCCGCCCTACCCATCCTCCTCCGCCCCACCCAC CCCCCCTCCGCCCCACCCATCCCCCCTCCCCTCACCCATCCCTCCCTCCG CCCCACCCATCCCCCCTCCCCTCACCCATCCCTCCCTCCCCCCCACCCAT CCCTCCCTCCGCCCCACCCATCCCTCCTCCGCCCCACCCACCACCCCTCC GCCCCACCCATCCCCCCTCCCCTCACCCATCCCTCCATCTTCCCTCCACC CCACCCATTCTCCCCTCCACCCCACCCATCCCCCATCCTCCCTCCACCCC ACCCATCCCTCCTCCGCCCCACCCACCACCCCTCCACCCCACCCATCCCC CCTTCCCTCACCCATCCCTCCCTCCGC	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TERT_chr5_1248167_1300068	1273190	A A	ACACATCA others(444): Show ACACATCAGACCCCACAACCGCCATCCACAGTCACCACATCAGACCCCAC GACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACA GTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGA CCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATC CACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACAC ATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACC GCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACC ACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCC ACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCACCATCCACA GT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0321 a0001c0001t0001g0321	1	392	0.0026	451	c.228 others(468): Show c.2287-911_2287-910insACTGTGGATGGTGGTCGTGGGGTCTGAT GTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGA TGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGG TCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTG TGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGT GGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGG TGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGG TCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGAT GTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGA TGGCGGTTGTGGGGTCTGATGTG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273330	C C	CATCAGAC others(444): Show CATCAGACCCCCACAACCGCCATCCACAGTCACCACACATCAGACCCCAC GACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACA GTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCA GACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCA TCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACAC ATCAGACCCCACAACCGCCATCCACAGTCACCACATCAGACCCCACGACC GCCATCCACAGTCACCACATCAGACCCTACGACCGCCATCCACAGTCACC ACACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCAC GACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACA GT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0251 a0001c0001t0001g0251	1	392	0.0026	451	c.228 others(470): Show c.2287-1051_2287-1050insACTGTGGATGGCGGTCGTGGGGTCTG ATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTG GATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTAG GGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGAC TGTGGATGGCGGTTGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTC GTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGG TGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGC GGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTG ATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTG TGGATGGCGGTTGTGGGGGTCTGAT	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
THEG_chr19_356747_381026	377263	T T	TGTGCCCC others(444): Show TGTGCCCCCACCCAGCCTCTCCCCTCTGTGCCCCCACCCAGCCTCTCCCC TCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTC CCCCTCTGTGCCCCACCCAGCCTCTCCCCCCCCGTGCCCCACCCAGCCTC TCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCC TCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCTCTGTGCCCCCACCCA GCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCA CCCAGCCTCTCCCCCCCCCGTGCCCCACCCAGCCTCTCCCCTCTGTGCCC CCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCCCCCG TGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCC CC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0039	1	370	0.0027	451	c.-12 others(462): Show c.-1294_-1293insGGGGGGGGGAGAGGCTGGGTGGGGCACAGAGGGG GAGAGGCTGGGTGGGGCACGGGGGGGGGAGAGGCTGGGTGGGGGCACAGA GGGGGAGAGGCTGGGTGGGGGCACAGAGGGGAGAGGCTGGGTGGGGCACG GGGGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGG GCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGAGAGGCTGGGTG GGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGG GTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACGGGGGGGGAGAGGCT GGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAG GCTGGGTGGGGGCACAGAGGGGAGAGGCTGGGTGGGGGCACAGAGGGGAG AGGCTGGGTGGGGGCAC	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1238		chr19	TogoVar
TRAF7_chr16_2150782_2183129	2164209	T T	TAGTGCTG others(444): Show TAGTGCTGTGTGGCGCGGCCTGGTTGCATGGTTAAGCGTGTGAGTGCTGC GTGGCGCGGCCTGGTCGCATGGTTAAGCGTGTGAGTGCTGCGTGACCTGG CCTGGTCGCATGGTAAAGCGTGTTAGTGCTGCGTGGCGCGGCCTGGTTGC ATGGTTAAGCGTGTTAGTGCTGCGTGGTGCGGCCTGGTCGCATGGTTAAG CGTGTGAGTGCTGCGTGGCCTGGCCTGGTCGCATGGTTAAGCGTGTTAGT GCTGCGTGGCCTGGCCTGGTCGCATGGTTAAGCGTGTGAGTGCTACGTGG CCTGGCCTGGTCGCATGGTTAAGCGTGTGAGTGCTGCGTGGCCTGGCCTG GTCGCATGGTTAAGCATGTTAGTGCTACGTGGCGCGGCCTGGTCGCATGG TTAAGCGTGTTAGTGCTGCGTGGCGCGGCCTGGTCGCATGGTTAAGCGTG TG	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0120 a0001c0005t0001g0120	1	320	0.0031	451	c.81+ others(464): Show c.81+302_81+752dupACCTGGCCTGGTCGCATGGTAAAGCGTGTTAG TGCTGCGTGGCGCGGCCTGGTTGCATGGTTAAGCGTGTTAGTGCTGCGTG GTGCGGCCTGGTCGCATGGTTAAGCGTGTGAGTGCTGCGTGGCCTGGCCT GGTCGCATGGTTAAGCGTGTTAGTGCTGCGTGGCCTGGCCTGGTCGCATG GTTAAGCGTGTGAGTGCTACGTGGCCTGGCCTGGTCGCATGGTTAAGCGT GTGAGTGCTGCGTGGCCTGGCCTGGTCGCATGGTTAAGCATGTTAGTGCT ACGTGGCGCGGCCTGGTCGCATGGTTAAGCGTGTTAGTGCTGCGTGGCGC GGCCTGGTCGCATGGTTAAGCGTGTGAGTGCTGTGTGGCGCGGCCTGGTT GCATGGTTAAGCGTGTGAGTGCTGCGTGGCGCGGCCTGGTCGCATGGTTA AGCGTGTGAGTGCTGCGTG	TRAF7	ENSG00000131653.14	transcript	ENST00000326181.11	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
TSHZ2_chr20_52967358_53500330	53204100	T T	TATACTAT others(444): Show TATACTATTATATCATCATATGATGATATGATACTATATCATCATATGAT GATATGATACTATATCATCATATGATGATATGATACTATATCATCATATG ATGATATGATACTATATCATCATATGATGATATGATACTATATCATCATA TGATGATATGATACTATATCATCATATGATGATATGATACTATATCATCA TATGATATACTATATCATCATATGATGATATGATACTATATCATCATATG ATATACTATATCATCATATGATGATATGATACTATATCATCATATGATGA TATGATACTATATCATCATATGATGATATGATACTATATCATCATATGAT GATATGATACTATATCATCATATGATGATATGATACTATATCATCATATG ATGATATGATACTATATCATCATATGATGATATGATACTATATCATCATA TG	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0033 a0006c0010t0033	a0006c0010t0033g0138 a0006c0010t0033g0138	1	174	0.0058	451	c.41- others(468): Show c.41-49397_41-49396insACTATTATATCATCATATGATGATATGA TACTATATCATCATATGATGATATGATACTATATCATCATATGATGATAT GATACTATATCATCATATGATGATATGATACTATATCATCATATGATGAT ATGATACTATATCATCATATGATGATATGATACTATATCATCATATGATG ATATGATACTATATCATCATATGATATACTATATCATCATATGATGATAT GATACTATATCATCATATGATATACTATATCATCATATGATGATATGATA CTATATCATCATATGATGATATGATACTATATCATCATATGATGATATGA TACTATATCATCATATGATGATATGATACTATATCATCATATGATGATAT GATACTATATCATCATATGATGATATGATACTATATCATCATATGATGAT ATGATACTATATCATCATATGAT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
TTC16_chr9_127711079_127736590	127720839	T T	TCCCTCCC others(444): Show TCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTC CCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCT TCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCTTCCTCCTCCCTTCCCCC TTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTC CCTTCCCCCCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCT CCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTA TCCCTCCTCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCTCCCT TCCCCCTTCCTCCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTC CCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTCTCCCTCCCCCT TC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0107 a0001c0002t0001g0107	1	334	0.0030	451	c.657 others(466): Show c.657+448_657+449insCCCCCCTTCCTCCCTCCCCCCTTCCTCCCT CCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCC TTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCTTC CTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCCCC CCTTCTTCCCTCCTCCCTTCCCCCCTTCCCCCTTCCTTCTTCCTCCCTTC CTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTC CCCCTTTCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCCTTCCTCCCT TCCCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTACCCCCTTCCTC TCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCC TTTCTCCCTCCCCCTTCCCCT	TTC16	ENSG00000167094.16	transcript	ENST00000373289.4	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
UMAD1_chr7_7635752_7884223	7679116	G G	GTTTATAA others(444): Show GTTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATATA TTTAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTA TATATTTAGTTTATAAACATATATTTATATATTTAGTTTATAAATATATA TTTATTTATTTAGTTTATAAATATATATTTATTTAGTTTATAAATATATA TTTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATACATA TTTACATATTTAGTTTATAAATATTTACATATTTAGTTTATAAATACATA TTTACATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATA CATATTTATATATTTAGTTTATAAATACATATTTATATATTTAGTTTATA AATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATTT AA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0074 a0001c0001t0074	a0001c0001t0074g0240 a0001c0001t0074g0240	1	250	0.0040	451	c.82+ others(466): Show c.82+5669_82+5670insAACATATATTTATATATTTAGTTTATAAAC ATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTAT AAACATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGT TTATAAATATATATTTATTTATTTAGTTTATAAATATATATTTATTTAGT TTATAAATATATATTTACATATTTAGTTTATAAATATATATTTATTTAGT TTATAAATACATATTTACATATTTAGTTTATAAATATTTACATATTTAGT TTATAAATACATATTTACATATTTAGTTTATAAATACATATTTACATATT TAGTTTATAAATACATATTTATATATTTAGTTTATAAATACATATTTATA TATTTAGTTTATAAATATATATTTATATATTTAATTTATAGATAAATATA TATTTATATATTTAATTTATA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UNC5C_chr4_95157504_95553973	95196757	A A	ATATATTT others(444): Show ATATATTTATATATTATATTTATGTAATATATAATATATATTATATATTA TATTTATGTAATATATAATATATATTATATATTATATTTATGTAATATAT AATATATATTATATATTATATTTATGTAATATATAATATATATTTATATA TTATATTTATGTAATATATAATATTTATATATTATATTTATGTAATATAT AATATTTATATATTATATTTATGTAATATATAATATTTATATATTATATT TATGTAATATATAATATTTATATATTATATTTATGTAATATATAATATTT ATATATTATATTTATGTAATATATAATATTTATATATATTTATGTAATAT ATAATATTTATATATATTTATGTAATATATAATATTTATATATTATATTT ATGTAATATATAATATTTATATATTATATTTATGTAATATATAATATATA TT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0008 a0002c0007t0008	a0002c0007t0008g0033 a0002c0007t0008g0033	1	204	0.0049	451	c.213 others(470): Show c.2136+5973_2136+5974insAATATATATTATATATTACATAAATA TAATATATAAATATTATATATTACATAAATATAATATATAAATATTATAT ATTACATAAATATATATAAATATTATATATTACATAAATATATATAAATA TTATATATTACATAAATATAATATATAAATATTATATATTACATAAATAT AATATATAAATATTATATATTACATAAATATAATATATAAATATTATATA TTACATAAATATAATATATAAATATTATATATTACATAAATATAATATAT AAATATTATATATTACATAAATATAATATATAAATATATATTATATATTA CATAAATATAATATATAATATATATTATATATTACATAAATATAATATAT AATATATATTATATATTACATAAATATAATATATAATATATATTATATAT TACATAAATATAATATATAAATATA	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	12/15			chr4	TogoVar
USP37_chr2_218445251_218573351	218557668	G G	GCTGTAAT others(444): Show GCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACAAGGTCA AGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAA AATACAAAAAATTAGCTGGGCATGGTGGCAGGCGCCTGTAGTCCCAGCTA CTCGAGAGGCTGAGGCAGGAGGATGGTATGAACCCAGGAGGCAGGGTTTG CAGTAAGCCGAGATCACACCACCGCACTCCAGCCTGGGCAACAGAGCGAG ACTCCGTCTCAAAAAACAAAACAAAAAGCAAAAAAACCCCATATATATAT ATATATATATATATATATATATATATGATCTTAAAGTGCAGAAAAACATA AAACATTATGTTCTTAACTTCAACTCATATCAAGATGAGTAACTTGGTTG CATAAGAGAAGCAATAAAGAAGTGAAAACAGGCTGGGCGCAGTGGCTCAC AC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02074.hp1 HG02083.hp2 others(6): Show HG00621.hp2 HG02074.hp1 HG02083.hp2 NA18939.hp1 NA19011.hp1 NA19081.hp2 NA19088.hp1 NA19089.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0003 a0001c0001t0007	a0001c0001t0003g0095 a0001c0001t0003g0097 a0001c0001t0003g0098 others(6): Show a0001c0001t0003g0095 a0001c0001t0003g0097 a0001c0001t0003g0098 a0001c0001t0003g0099 a0001c0001t0003g0100 a0001c0001t0003g0133 a0001c0001t0007g0096 a0001c0001t0007g0101 a0001c0001t0007g0127	9	282	0.0319	451	c.156 others(466): Show c.156+829_156+830insGTGTGAGCCACTGCGCCCAGCCTGTTTTCA CTTCTTTATTGCTTCTCTTATGCAACCAAGTTACTCATCTTGATATGAGT TGAAGTTAAGAACATAATGTTTTATGTTTTTCTGCACTTTAAGATCATAT ATATATATATATATATATATATATATATATATGGGGTTTTTTTGCTTTTT GTTTTGTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCG GTGGTGTGATCTCGGCTTACTGCAAACCCTGCCTCCTGGGTTCATACCAT CCTCCTGCCTCAGCCTCTCGAGTAGCTGGGACTACAGGCGCCTGCCACCA TGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTT AGCCAGGATGGTCTCGATCTCTTGACCTTGTGATCCACCTGCCTCAGCCT CCCAAAGTGCTGGGATTACAG	USP37	ENSG00000135913.11	transcript	ENST00000258399.8	protein_coding	4/25			chr2	TogoVar
VAT1L_chr16_77783564_77985107	77815892	C C	CGGGAGGT others(444): Show CGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGCACCATTGTACTCCAGCT GGGTGACAAGAGTGAACCAAAACTCCATCTCAAAAAAAAAAAAATAAAAA AAAAAATAAAAAGAACTAGTTCAAGTCACCTAGCTTGGAAAAGAAGCTGT GGTTGGATGCTAATGGATGTTGGGTCAGACTGAAGAGTGTACTTTCTATA GTCTGAGTCTTTCTTAGATGGCGGCTTCTAAAAATAGAAAGTACAGGCTG GGTACAGTAGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGG GTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCAGGCCAACATGGTGA AACCCCATCTATATTAAAAATACAAAAAATAGCCAGGCGTGGTGGCGGGC ACCTGTAATCCCAGCTACTCAGGAGGCTGAGGTAGGAGAATTGCTTGAAC CT	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0290 a0001c0001t0005g0290	1	342	0.0029	451	c.234 others(466): Show c.234-999_234-998insGCACCATTGTACTCCAGCTGGGTGACAAGA GTGAACCAAAACTCCATCTCAAAAAAAAAAAAATAAAAAAAAAAATAAAA AGAACTAGTTCAAGTCACCTAGCTTGGAAAAGAAGCTGTGGTTGGATGCT AATGGATGTTGGGTCAGACTGAAGAGTGTACTTTCTATAGTCTGAGTCTT TCTTAGATGGCGGCTTCTAAAAATAGAAAGTACAGGCTGGGTACAGTAGC TCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCT GAGGTCAGGAGTTCAAGACCAGCCAGGCCAACATGGTGAAACCCCATCTA TATTAAAAATACAAAAAATAGCCAGGCGTGGTGGCGGGCACCTGTAATCC CAGCTACTCAGGAGGCTGAGGTAGGAGAATTGCTTGAACCTGGGAGGTGG AGGTTGCAGTGAGCTGAGATC	VAT1L	ENSG00000171724.3	transcript	ENST00000302536.3	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr16	TogoVar

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