Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

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
NGEF_chr2_232873701_233018256	232995356	C C	CTGTGTAC others(621): Show CTGTGTACAGCATGTATACTGTGTACAGCATGTATACTGTGTACAGCATG TATACTGTATGTATGTATACTGTATGTATGTATACTGTATGTATGTATAC TGTATGTATGTATACCGTATATATACACAGTATGTATACCGTATATATAC ACAGTATGTATACCGTATATATACACAGTATGTATACCGTATATATACAC AGTATGTATACCGTATATATACACAGTATGTATACCGTATATATACACAG TATGTATACCGTATATATACACAGTATGTATACCGTATATATACACAGTA TGTATACCGTATATATACACAGTATGTATACCGTATATATACACAGTATG TATACCGTATATATACACAGTATGTATACCGTATATATACACAGTATGTA TACCGTATATATACACAGTATGTATACCGTATATATACACAGTATGTATA CTGTGTATGCAGTATGTATACAGTATACATACTGCATGCAGTATGTATAC TGTATACATACTGCATGCAGTATGTATACTGTATATATACACTATACAGT ATGTATACTGTATATATACACACAGTATGTATACTGTATATATACACACA GTATGTATACTGTATATATACACACAGTA	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0308 a0001c0001t0032g0308	1	118	0.0085	628	c.-75 others(647): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTATA CATACTGTATAGTGTATATATACAGTATACATACTGCATGCAGTATGTAT ACAGTATACATACTGCATGCAGTATGTATACTGTATACATACTGCATACA CAGTATACATACTGTGTATATATACGGTATACATACTGTGTATATATACG GTATACATACTGTGTATATATACGGTATACATACTGTGTATATATACGGT ATACATACTGTGTATATATACGGTATACATACTGTGTATATATACGGTAT ACATACTGTGTATATATACGGTATACATACTGTGTATATATACGGTATAC ATACTGTGTATATATACGGTATACATACTGTGTATATATACGGTATACAT ACTGTGTATATATACGGTATACATACTGTGTATATATACGGTATACATAC TGTGTATATATACGGTATACATACTGTGTATATATACGGTATACATACAT ACAGTATACATACATACAGTATACATACATACAGTATACATACATACAGT ATACATGCTGTACACAGTATACATGCTGTACACAGTATACATGCTGTACA CA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
OPHN1_chrX_68037344_68438495	68326722	A A	AGGGAGGT others(621): Show AGGGAGGTGAGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGGG GGGGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGCCC GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCCCC GTCCAGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCCCAG TCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTC CGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGGGGTCA GCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAG CCCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGGGGGGGTCAGC CCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGC CCCCCGCCCGGCCAGCCGCCCCGTCCGGG	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0041 a0001c0001t0009g0041	1	59	0.0169	628	c.155 others(647): Show c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG GGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGGG GGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGAGG GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC CCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCCC GGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCTG GACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCCC CCCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCA GAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCA CCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCTCACCTC CC	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24			chrX	TogoVar
OPHN1_chrX_68037344_68438495	68326722	A A	AGGGAGGT others(621): Show AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGGG GGGGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGCCC GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCCCC GTCCAGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCCCAG TCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTC CGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGGGGTCA GCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAG CCCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGGGGGGGTCAGC CCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGC CCCCCGCCCGGCCAGCCGCCCCGTCCGGG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01069.hp1 HG01099.hp1 others(6): Show HG00099.hp1 HG01069.hp1 HG01099.hp1 HG01934.hp1 NA18952.hp1 NA18971.hp1 NA18977.hp1 NA19056.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0021 a0001c0001t0001 a0001c0001t0003 a0001c0001t0021	a0001c0001t0001g0017 a0001c0001t0001g0072 a0001c0001t0001g0073 others(6): Show a0001c0001t0001g0017 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0080 a0001c0001t0001g0133 a0001c0001t0001g0145 a0001c0001t0003g0040 a0001c0001t0021g0077	9	67	0.1343	628	c.155 others(647): Show c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG GGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGGG GGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGAGG GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC CCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCCC GGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCTG GACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCCC CCCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCA GAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCA CCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTC CC	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24			chrX	TogoVar
OPHN1_chrX_68037344_68438495	68326722	A A	AGGGAGGT others(621): Show AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGGG GGGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGCCCG GCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCCCCG TCCAGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCCCAGT CCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCC GGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAG CCCCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGGGGTCAG CCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGGTCAG CCCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGGGGGGGTCAGC CCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGC CCCCCGCCCGGCCAGCCGCCCCGTCCGGG	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	59	0.0169	628	c.155 others(647): Show c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG GGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGGG GGGCTGACCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGG GGGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGAG GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT CCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCC CGGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCT GGACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCC CCCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCA GAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCA CCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTC CC	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24			chrX	TogoVar
OPHN1_chrX_68037344_68438495	68326722	A A	AGGGAGGT others(621): Show AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGGG GGGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGCCCG GCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCCCCG TCCAGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCCCAGT CCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCC GGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAG CCCCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGGGGTCAG CCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGC CCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGGGGGGGTCAGCC CCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGC CCCCCGCCCGGCCAGCCGCCCCGTCCGGG	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	59	0.0169	628	c.155 others(647): Show c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCA GGGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGG GGGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGAG GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT CCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCC CGGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCT GGACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCC CCCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCA GAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCA CCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTC CC	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24			chrX	TogoVar
OPHN1_chrX_68037344_68438495	68326722	A A	AGGGAGGT others(621): Show AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGGG GGGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGCCCG GCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCCCCG TCCAGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCCCAGT CCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCC GGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAG CCCCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGGGGTCAG CCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGC CCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGGGGGGGTCAGCC CCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCC CCCCCGCCCGGCCAGCCGCCCCGTCCGGG	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	59	0.0169	628	c.155 others(647): Show c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG GGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCA GGGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGG GGGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGAG GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT CCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCC CGGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCT GGACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCC CCCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCA GAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCA CCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTC CC	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24			chrX	TogoVar
OPHN1_chrX_68037344_68438495	68326722	A A	AGGGAGGT others(621): Show AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGGG GGGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGCCCG GCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCCCCG TCCAGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCCCAGT CCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCC GGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAG CCCCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGGGGTCAG CCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGC CCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGGAGGGGGGGTCAGC CCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGC CCCCCGCCCGGCCAGCCGCCCCGTCCGGG	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	59	0.0169	628	c.155 others(647): Show c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG GGGGCTGACCCCCCCTCCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGG GGGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGAG GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT CCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCC CGGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCT GGACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCC CCCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCA GAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCA CCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTC CC	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24			chrX	TogoVar
OSGIN1_chr16_83948240_83971332	83950857	A A	ACACACGT others(621): Show ACACACGTACACATGCACACATGAGCACATGTGCACACATGCACATACAT ACTGGCACACACGTACATGCACACATGAGCACATGTGCACACATGCACAT ACATACTGGCACACACGTACATGCACACATGAGCACATGTGCACACATGC ACATACATACCGGCACACGTACACACATGCACACATGAACACATGTGCAC ACGTACACACACATGCACACATGAGCACATGTGCACACATGCACATACAT ACTGGCACACACGTACATGCACACATGAGCACATGTGCACACATGCACAT ACATACTGGCACACGTACACACACGCACACATGAGCACATGTGCACACAT GCACATACATACTGGCACACACGTACACACATGCATACATGAGCACATGT GCACACATGCACATACATACTGGCACACGTACACGCACACATGAGCACAT GTGCACACATGCCCATACACACTGGCACACACGTACACACACATGCACAC ATGAGCACATGTGCACACATGCACATACACACTGGCACACACGTACACAC ACATGCACACATGAGCACATGTGCACACATGCACATACATACCGGCACAC GTACACACATGCACACATGAACACATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	203	0.0049	628	c.-25 others(639): Show c.-2546_-2545insCACACGTACACATGCACACATGAGCACATGTGCA CACATGCACATACATACTGGCACACACGTACATGCACACATGAGCACATG TGCACACATGCACATACATACTGGCACACACGTACATGCACACATGAGCA CATGTGCACACATGCACATACATACCGGCACACGTACACACATGCACACA TGAACACATGTGCACACGTACACACACATGCACACATGAGCACATGTGCA CACATGCACATACATACTGGCACACACGTACATGCACACATGAGCACATG TGCACACATGCACATACATACTGGCACACGTACACACACGCACACATGAG CACATGTGCACACATGCACATACATACTGGCACACACGTACACACATGCA TACATGAGCACATGTGCACACATGCACATACATACTGGCACACGTACACG CACACATGAGCACATGTGCACACATGCCCATACACACTGGCACACACGTA CACACACATGCACACATGAGCACATGTGCACACATGCACATACACACTGG CACACACGTACACACACATGCACACATGAGCACATGTGCACACATGCACA TACATACCGGCACACGTACACACATGCACACATGAACACATGTG	OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding		2382		chr16	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CTATAGAT others(621): Show CTATAGATAGACATATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGT ATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0010	1	182	0.0055	628	c.-26 others(639): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATC TATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTA TCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCTATC GATAGATACATCTATCTATCGATAGATACATCTATCTATCGATAGATACA TCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATC TATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCTATCGA TAGATACATCTATCTATCGATAGATACATCTATCTATCGATAGATACATC TATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCGA TAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATA GATACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCTATCGATAGATACATCTATATGTCTATCTATA	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2190		chr20	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CTATAGAT others(621): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCTATAGATAGACATATAGATGTATCTATCTATAGATAGACATAT AGATGTATCTATCTATAGATAGACATATAGATGTATCTATCGATAGACAG ATAGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGAT AGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAG ATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGAT AGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTAT CTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	182	0.0055	628	c.-26 others(639): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACA TCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATC TATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCGA TAGATACATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTA TCTGTCTATCGATAGATACATCTATCTGTCTATCGATAGATACATCTATC TGTCTATCGATAGATACATCTATCTGTCTATCGATAGATACATCTATCTG TCTATCGATAGATACATCTATCTGTCTATCGATAGATACATCTATCTGTC TATCGATAGATACATCTATATGTCTATCTATAGATAGATACATCTATATG TCTATCTATAGATAGATACATCTATATGTCTATCTATAGATAGATACATC TATATGTCTATCTATAGATAGATACATCTATATGTCTATCTATA	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2190		chr20	TogoVar
PDGFC_chr4_156755454_156976799	156847740	A A	AAATCTAA others(621): Show AAATCTAAAGTTATTCCAAATCTTAAAGTTTAAGTTAAAACGAAGAATAA AAGCAGGAATAGGATAAAGGTATATACTAATTCAATCAACAACATAATAA GAGATAGAAAAGGAACAGTAAAAGACTCGGAAGAAAAAAATCTTTCTTCT CACAGACGATATCATCTTTTGCATAAATAAAATATAATTTCCACAACAAC TGTCAAAATAAATGAAAAAGCTTAACAAGTTTTCTAGACATAAGATCAAT ACTAAAAAATTGATTGCATTTCTAAACACCAGCAATATACAGTTAGAAAA TGTAGTGTCAAAAAAAGATTTTAGCAATAGCCTATAAGGAATCTAGAACT AACACTAAATAATGGATGTGCAACATCATTATGAATAAAATTTTAAAACC ATATAGACATTAAACAAGACTCCAATAAATGGAGCAATGTAAATAAAGTT CTCCATTTGTAAATAAAGCAATGTAAATAAAGGACAGAGTCATTATTACT GTGATGTCAGTTCTCTTCAAAATGATCTATACATTCAATGTTCTTACAAT AAAAATAACAACAGTAGTTTTCAATGAACTTTACAACTATTTCTCAAGGT TGAAAACAGTAGCTTTCAATGAACTCTAC	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0053 a0001c0001t0014g0053	1	71	0.0141	628	c.314 others(645): Show c.314+2480_314+2481insGTAGAGTTCATTGAAAGCTACTGTTTTC AACCTTGAGAAATAGTTGTAAAGTTCATTGAAAACTACTGTTGTTATTTT TATTGTAAGAACATTGAATGTATAGATCATTTTGAAGAGAACTGACATCA CAGTAATAATGACTCTGTCCTTTATTTACATTGCTTTATTTACAAATGGA GAACTTTATTTACATTGCTCCATTTATTGGAGTCTTGTTTAATGTCTATA TGGTTTTAAAATTTTATTCATAATGATGTTGCACATCCATTATTTAGTGT TAGTTCTAGATTCCTTATAGGCTATTGCTAAAATCTTTTTTTGACACTAC ATTTTCTAACTGTATATTGCTGGTGTTTAGAAATGCAATCAATTTTTTAG TATTGATCTTATGTCTAGAAAACTTGTTAAGCTTTTTCATTTATTTTGAC AGTTGTTGTGGAAATTATATTTTATTTATGCAAAAGATGATATCGTCTGT GAGAAGAAAGATTTTTTTCTTCCGAGTCTTTTACTGTTCCTTTTCTATCT CTTATTATGTTGTTGATTGAATTAGTATATACCTTTATCCTATTCCTGCT TTTATTCTTCGTTTTAACTTAAACTTTAAGATTTGGAATAACTTTAGATT	PDGFC	ENSG00000145431.11	transcript	ENST00000502773.6	protein_coding	2/5			chr4	TogoVar
PLEKHG4B_chr5_87168_194966	164773	A A	AGCTCACA others(621): Show AGCTCACACTAATGCTCTGACGGGGCGGAGCTCACACACTAATGCTGTGA CGGAGCGGAGCTCACACTAATGCTGTGACAGGGGGCGGGGCTCACAGTAA TGCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGGGCTCA CACTAATGCTGTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGG AGCTCACACTAATGCTCTGACGGGGCGGCGCTCACACTAATGCTGTGACG GGGCGGGGCTCACAGTAATGCTCTGACGGGGCGGAGCTCACACTAATGCT CTGATGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGAGCTCACACT AATGCTGTGACGGGGCGGGGCTCACAGTAATGCTCTGACGGGGCGGAGCT CACACTAATGCTCTGACGGGGCGGAGCTCACACACTAATGCTGTGACGGA GCGGAGCTCACACTAATGCTGTGACAGGGGGCGGGGCTCACAGTAATGCT CTGACGGGGCGGAGCTCACACAGTAATGCTGTGACGGGGCGGAGCTCACA CTAATGCTGTGACGGGGCGGGGCTTACACACTAATGCTCTGACGGGGCGG AGCTCACACTAATGCTCTGACGGGGCGGG	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01074.hp2 HG01106.hp1 others(1): Show HG00733.hp2 HG01074.hp2 HG01106.hp1 HG01256.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0004 a0001c0001 a0001c0002 a0003c0004	a0001c0001t0017 a0001c0002t0017 a0003c0004t0086 a0001c0001t0017 a0001c0002t0017 a0003c0004t0086	a0001c0001t0017g0069 a0001c0002t0017g0067 a0001c0002t0017g0073 others(1): Show a0001c0001t0017g0069 a0001c0002t0017g0067 a0001c0002t0017g0073 a0003c0004t0086g0041	4	203	0.0197	628	c.347 others(647): Show c.3476+1349_3476+1350insTAATGCTCTGACGGGGCGGGGCTCAC ACTAATGCTGTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGA GCTCACACTAATGCTCTGACGGGGCGGCGCTCACACTAATGCTGTGACGG GGCGGGGCTCACAGTAATGCTCTGACGGGGCGGAGCTCACACTAATGCTC TGATGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGAGCTCACACTA ATGCTGTGACGGGGCGGGGCTCACAGTAATGCTCTGACGGGGCGGAGCTC ACACTAATGCTCTGACGGGGCGGAGCTCACACACTAATGCTGTGACGGAG CGGAGCTCACACTAATGCTGTGACAGGGGGCGGGGCTCACAGTAATGCTC TGACGGGGCGGAGCTCACACAGTAATGCTGTGACGGGGCGGAGCTCACAC TAATGCTGTGACGGGGCGGGGCTTACACACTAATGCTCTGACGGGGCGGA GCTCACACTAATGCTCTGACGGGGCGGGGCTCACACTAATGCTCTGACGG GGCGGAGCTCACACACTAATGCTGTGACGGAGCGGAGCTCACACTAATGC TGTGACAGGGGGCGGGGCTCACAGTAATGCTCTGACGGGGCGGAGCTCAC AC	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHN1_chr1_961482_980865	976939	C C	CAACCCCG others(621): Show CAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCT CCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCC CGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACT CCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGG AACCGCCTCCCACTCCCCCCACCAACCCGGGAACCGCCTCCCACTCCCCC CCACCAACCCCGGGAACCGCCTGCCCCCGCCACCAACCCCCGGGAACCGC CTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAAC CCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCAC TCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGG AACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCC CACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGC CTCCCACTCCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCA ACCCCGGGAACCGCCTCCCACTCCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	407	0.0025	628	c.23 others(639): Show c.2364_*2365insAACCCCGGGAACCGCCTCCCACTCCCCCCACCAA CCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCA CTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGG GAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCC CCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCGGGAACC GCCTCCCACTCCCCCCCACCAACCCCGGGAACCGCCTGCCCCCGCCACCA ACCCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCC CACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCG GGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCC CCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACC GCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGC AACCCCGGGAACCGCCTCCCACTCCCCCCCGCAACCCCGGGAACCGCCTC CCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCG	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1075		chr1	TogoVar
PRDM16_chr1_3064203_3443621	3351524	G G	GTCTCTCC others(621): Show GTCTCTCCCCTCCTCTCTCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCC TCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTC TCCCCCTCCCTCTCTCCCCCACCTCCCCCCTCCCTCTCTCCCCCTCCTTC TCTCTTCCCCTCCTTCTCTCCCCTCCCTCTCTCCCCTCCCTCTTTCCCCC CTCCCCCTCCTTCTCTCTCCCCTTCCCTCTCTCCCCTCCCTCTCTGTCCC CCTCCCTCTCTCATCCCCTTCCTCTTTCTCTCCCTCCCTCTCCTTCCCCT CCCTCCCACTCTCCCCCTCCCTCTCTCCCCCTTTCCCTCCCTCTCTCCCC TTCTCTCTCTTCTGCTCCTTCTCTCTCCCCCTTCCTCTCTCCCCTCCCTC TCTGTCCCCCTCCCTCTCTCATCCCCTTCCTCTTTCTCTCCCTCTCTCTT CCCCTCCCTCCCTCTCTCCCCCTCCCTCTGTCCCGTCCCTCTCTCCCCCT CCCTCTGTCCCATCCCTCTCTCCCCCTCCCTCTCTCCCCTCCCTCTCCTC CCTCTTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCC TTCTCTCTCCCCTCCCTCTCTCCCCTCCC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0057 a0001c0022t0057	a0001c0022t0057g0138 a0001c0022t0057g0138	1	62	0.0161	628	c.439 others(647): Show c.439-33623_439-33622insCCCCTCCTCTCTCCCCTCCCTCTCTC CCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCC TCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCACCTCCCCCCTC CCTCTCTCCCCCTCCTTCTCTCTTCCCCTCCTTCTCTCCCCTCCCTCTCT CCCCTCCCTCTTTCCCCCCTCCCCCTCCTTCTCTCTCCCCTTCCCTCTCT CCCCTCCCTCTCTGTCCCCCTCCCTCTCTCATCCCCTTCCTCTTTCTCTC CCTCCCTCTCCTTCCCCTCCCTCCCACTCTCCCCCTCCCTCTCTCCCCCT TTCCCTCCCTCTCTCCCCTTCTCTCTCTTCTGCTCCTTCTCTCTCCCCCT TCCTCTCTCCCCTCCCTCTCTGTCCCCCTCCCTCTCTCATCCCCTTCCTC TTTCTCTCCCTCTCTCTTCCCCTCCCTCCCTCTCTCCCCCTCCCTCTGTC CCGTCCCTCTCTCCCCCTCCCTCTGTCCCATCCCTCTCTCCCCCTCCCTC TCTCCCCTCCCTCTCCTCCCTCTTCCCTCTCTCCCCCTCCCTCTCTCCCC CTCCCTCTCTCCCCCTCCTTCTCTCTCCCCTCCCTCTCTCCCCTCCCTCT CT	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3351524	G G	GTCTCTCC others(621): Show GTCTCTCCCCTCCTCTCTCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCC TCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTC TCCCCCTCCCTCTCTCCCCCACCTCCCCCCTCCCTCTCTCCCCCTCCTTC TCTCTTCCCCTCCTTCTCTCCCCTCCCTCTCTCCCCTCCCTCTTTCCCCC CTCCCCCTCCTTCTCTCTCCCCTTCCCTCTCTCCCCTCCCTCTCTGTCCC CCTCCCTCTCTCATCCCCTTCCTCTTTCTCTCCCTCCCTCTCCTTCCCCT CCCTCCCACTCTCCCCCTCCCTCTCTCCCCCTTTCCCTCCCTCTCTCCCC TTCTCTCTCTTCTGCTCCTTCTCTCTCCCCCTTCCTCTCTCCCCTCCCTC TCTGTCCCCCTCCCTCTCTCATCCCCTTCCTCTTTCTCTCCCTCTCTCTT CCCCTCCCTCCCTCTCTCCTCCTCCCTCTGTCCCGTCCCTCTCTCCCCCT CCCTCTGTCCCGTCCCTCTCTCCCCCTCCCTCTCTCCCCTCCCTCTCCTC CCTCTTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCC TTCTCTCTCCCCTCCCTCTCTCCCCTCCC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00597.hp1 HG00639.hp2 others(8): Show HG00438.hp1 HG00597.hp1 HG00639.hp2 HG00738.hp1 HG01106.hp2 HG01496.hp1 HG01517.hp2 HG02300.hp2 HG02698.hp1 NA19085.hp1 NA20129.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0029 others(2): Show a0001c0001 a0001c0002 a0001c0029 a0002c0003 a0003c0005	a0001c0001t0006 a0001c0001t0008 a0001c0002t0001 others(7): Show a0001c0001t0006 a0001c0001t0008 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0029t0065 a0002c0003t0009 a0003c0005t0001 a0003c0005t0006 a0003c0005t0009	a0001c0001t0006g0155 a0001c0001t0008g0097 a0001c0002t0001g0080 others(8): Show a0001c0001t0006g0155 a0001c0001t0008g0097 a0001c0002t0001g0080 a0001c0002t0001g0114 a0001c0002t0002g0169 a0001c0002t0003g0147 a0001c0029t0065g0131 a0002c0003t0009g0078 a0003c0005t0001g0171 a0003c0005t0006g0053 a0003c0005t0009g0136	11	72	0.1528	628	c.439 others(647): Show c.439-33623_439-33622insCCCCTCCTCTCTCCCCTCCCTCTCTC CCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCC TCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCACCTCCCCCCTC CCTCTCTCCCCCTCCTTCTCTCTTCCCCTCCTTCTCTCCCCTCCCTCTCT CCCCTCCCTCTTTCCCCCCTCCCCCTCCTTCTCTCTCCCCTTCCCTCTCT CCCCTCCCTCTCTGTCCCCCTCCCTCTCTCATCCCCTTCCTCTTTCTCTC CCTCCCTCTCCTTCCCCTCCCTCCCACTCTCCCCCTCCCTCTCTCCCCCT TTCCCTCCCTCTCTCCCCTTCTCTCTCTTCTGCTCCTTCTCTCTCCCCCT TCCTCTCTCCCCTCCCTCTCTGTCCCCCTCCCTCTCTCATCCCCTTCCTC TTTCTCTCCCTCTCTCTTCCCCTCCCTCCCTCTCTCCTCCTCCCTCTGTC CCGTCCCTCTCTCCCCCTCCCTCTGTCCCGTCCCTCTCTCCCCCTCCCTC TCTCCCCTCCCTCTCCTCCCTCTTCCCTCTCTCCCCCTCCCTCTCTCCCC CTCCCTCTCTCCCCCTCCTTCTCTCTCCCCTCCCTCTCTCCCCTCCCTCT CT	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKAG2_chr7_151551127_151882115	151855208	C C	CTCCACAC others(621): Show CTCCACACACACCACCCTCCACACACCACCCTCCACACACACCACCCTCC ACACACCACCCTCCACACACACCACCCTCCACACACCGCCCTCCACACAC ACCATGCTCCACACACACCGCCCTCCACACACACCGCCCTCCACACACAC CATCCACACACCACCCTCCACACACACCATGCTCCACACACACCGCCCTC CACACACACCATGCTCCACACACACCGCCCTCCACACACACCATCCTCCA CACACACCATGCTCCACACACCACCCTCCACACACCACCCTCTACCACCC TCCACACACCACCATCCACACACACCACGCTCCACACACACCGCCCTCCA CACACACCATCCTCCACACACACCATCCTCCACACACACCACCCTCCACA CACACCGCCCTCCACACACACCGCCCTCCACACACACCGCCCTCCACACA CACCATCCTCCACACACCACCCTCCACACACCACCCTCCACACACACCAT CCACACACCACCCTCCACACACACCATGCTCCACACACACCGCCCTCCAC ACACACCATCCTCCACACACACCATGCTCCACACACCACCCTCCACACAC CACCCTCTACCACCCTCCACACACCACCA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0226 a0001c0001t0004g0226	1	250	0.0040	628	c.114 others(647): Show c.114+21298_114+21299insTGGTGGTGTGTGGAGGGTGGTAGAGG GTGGTGTGTGGAGGGTGGTGTGTGGAGCATGGTGTGTGTGGAGGATGGTG TGTGTGGAGGGCGGTGTGTGTGGAGCATGGTGTGTGTGGAGGGTGGTGTG TGGATGGTGTGTGTGGAGGGTGGTGTGTGGAGGGTGGTGTGTGGAGGATG GTGTGTGTGGAGGGCGGTGTGTGTGGAGGGCGGTGTGTGTGGAGGGCGGT GTGTGTGGAGGGTGGTGTGTGTGGAGGATGGTGTGTGTGGAGGATGGTGT GTGTGGAGGGCGGTGTGTGTGGAGCGTGGTGTGTGTGGATGGTGGTGTGT GGAGGGTGGTAGAGGGTGGTGTGTGGAGGGTGGTGTGTGGAGCATGGTGT GTGTGGAGGATGGTGTGTGTGGAGGGCGGTGTGTGTGGAGCATGGTGTGT GTGGAGGGCGGTGTGTGTGGAGCATGGTGTGTGTGGAGGGTGGTGTGTGG ATGGTGTGTGTGGAGGGCGGTGTGTGTGGAGGGCGGTGTGTGTGGAGCAT GGTGTGTGTGGAGGGCGGTGTGTGGAGGGTGGTGTGTGTGGAGGGTGGTG TGTGGAGGGTGGTGTGTGTGGAGGGTGGTGTGTGGAGGGTGGTGTGTGTG GA	PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	1/15			chr7	TogoVar
PRR22_chr19_5777960_5789746	5787211	G G	GGTCGTGG others(621): Show GGTCGTGGGAGATGGTGGGAGGTCGTGGGAGATGGTGGGAGGTAGTGGGA GACAGTGGCAGACAGTGGGAGGTGGTGGAGATGGTGGCAGACGGTGGGAG GTGGTGGGAGACAGTGGGAAGTGGTGGGAGGTGGTGGGAGACGGTGGGAG GTGGTAGGAGACGGTGGGAGGTGGTGGGAGACACTCGGAGACGGTGGGAT GTGGTGGGAGGTAGTGGGAGACATTGGCAGACGGTGGGAGGTGGTGGGAG ATGGTGAGAGGTGGTGGGAGACGGCGGGAGGTGGTGGGAGATGGCGGGAG GTGGTGGGAGACGGTGGGAGGTGGTGGGAGGTGGTGGGAGACGGAGAAGG TGGGATGTGGTGGGAGGTAGTGGGAGACACTGGCAGATGGTGGGAGGTCG TGGGAGATGGTGGGAGGTGGTGGAGACGGTGGGAGATGGTGGGAGGTGGT GGGAGACGGCGGGAGGTGGTGGGAGATGGCGGGAGGTGGTGGGAAGTGGT GGGAGACGGAGATGGTGGGAGACGGTGGGAGACGGCGGGAGGTGGAGGGA GGCGGCGGGAGATGGCGGGAGGTGGCAGGAGACGTGGGAGGTGGCAGGAG ACGGTGGGAGGTGGTGGGAGACAGTGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	380	0.0026	628	c.-25 others(639): Show c.-2552_-2551insTCCCACTGTCTCCCACCACCTCCCACCGTCTCCT GCCACCTCCCACGTCTCCTGCCACCTCCCGCCATCTCCCGCCGCCTCCCT CCACCTCCCGCCGTCTCCCACCGTCTCCCACCATCTCCGTCTCCCACCAC TTCCCACCACCTCCCGCCATCTCCCACCACCTCCCGCCGTCTCCCACCAC CTCCCACCATCTCCCACCGTCTCCACCACCTCCCACCATCTCCCACGACC TCCCACCATCTGCCAGTGTCTCCCACTACCTCCCACCACATCCCACCTTC TCCGTCTCCCACCACCTCCCACCACCTCCCACCGTCTCCCACCACCTCCC GCCATCTCCCACCACCTCCCGCCGTCTCCCACCACCTCTCACCATCTCCC ACCACCTCCCACCGTCTGCCAATGTCTCCCACTACCTCCCACCACATCCC ACCGTCTCCGAGTGTCTCCCACCACCTCCCACCGTCTCCTACCACCTCCC ACCGTCTCCCACCACCTCCCACCACTTCCCACTGTCTCCCACCACCTCCC ACCGTCTGCCACCATCTCCACCACCTCCCACTGTCTGCCACTGTCTCCCA CTACCTCCCACCATCTCCCACGACCTCCCACCATCTCCCACGAC	PRR22	ENSG00000212123.4	transcript	ENST00000419421.3	protein_coding		2466		chr19	TogoVar
PTPRT_chr20_42067756_43194906	43068103	G G	GGAGGGAG others(621): Show GGAGGGAGGAAGGAAGGGGAGGGAGGGGAGGAAGGAAGGGGAGGGAGGGG AGGAAGGAAGGGGAGGGAGGGGAGGAAGGAAGGGCAGAGAGGAGGGAAGG AAGGAAGGGCAGAGACGAGGGAAGGAAGGAAGGGCAGAGAGGAGGGAAGG AAGGGGTGAGAGGAGGGAAGGAAGGGGGAGAGGAGGGAAGGAAGGGGGGA GAGGAGAGAAGGAAGGGGGAGAGGAGGGAAGGAAGGGGGAGAGGAGGGAA GGAGGGGGGAGAGGAGGGAAGGAAGGGGGGAGAGGAGGGAAGGAAGTGGG GAGAGGAGGGAAGAAAGGGGGGAGAGGAGGGAAGGAAGGGGGAGAGGAGG GAAGGAAGGGGGAGAGGAGGGAAGGAAGGGGGAGAGGAGGAAAGGAAGGG GGAGAGGAGGGAAGGAAGGGGGAGAGGGAGGGAGGAAGGGGGAGGGAGGG AGGGAGGAAGGAAGGAAGGAAGCAAGCAAGCAAGCCAAGCTGCTCAGAAG CTAACTTCAGGAAGAAGGGAGGGAAGCTAACTTCAGAAGCTAACTTCAGG AGGGAGGGAAGGAAGGAAGGGAAGAAGGAGGGAAGGGAGGTAGGAAGGAG GGAGGGAAGGGAGGAAGGGAGGAGGGAAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03195.hp1 NA19030.hp1 HG02280.hp1 HG03195.hp1 NA19030.hp1	a0001 a0004 a0001 a0004	a0001c0007 a0001c0021 a0004c0006 a0001c0007 a0001c0021 a0004c0006	a0001c0007t0004 a0001c0021t0001 a0004c0006t0009 a0001c0007t0004 a0001c0021t0001 a0004c0006t0009	a0001c0007t0004g0062 a0001c0021t0001g0053 a0004c0006t0009g0051 a0001c0007t0004g0062 a0001c0021t0001g0053 a0004c0006t0009g0051	3	18	0.1667	628	c.88+ others(647): Show c.88+121542_88+121543insTTTCCCTCCTCCCTTCCTCCCTTCCC TCCCTCCTTCCTACCTCCCTTCCCTCCTTCTTCCCTTCCTTCCTTCCCTC CCTCCTGAAGTTAGCTTCTGAAGTTAGCTTCCCTCCCTTCTTCCTGAAGT TAGCTTCTGAGCAGCTTGGCTTGCTTGCTTGCTTCCTTCCTTCCTTCCTC CCTCCCTCCCTCCCCCTTCCTCCCTCCCTCTCCCCCTTCCTTCCCTCCTC TCCCCCTTCCTTTCCTCCTCTCCCCCTTCCTTCCCTCCTCTCCCCCTTCC TTCCCTCCTCTCCCCCTTCCTTCCCTCCTCTCCCCCCTTTCTTCCCTCCT CTCCCCACTTCCTTCCCTCCTCTCCCCCCTTCCTTCCCTCCTCTCCCCCC TCCTTCCCTCCTCTCCCCCTTCCTTCCCTCCTCTCCCCCTTCCTTCTCTC CTCTCCCCCCTTCCTTCCCTCCTCTCCCCCTTCCTTCCCTCCTCTCACCC CTTCCTTCCCTCCTCTCTGCCCTTCCTTCCTTCCCTCGTCTCTGCCCTTC CTTCCTTCCCTCCTCTCTGCCCTTCCTTCCTCCCCTCCCTCCCCTTCCTT CCTCCCCTCCCTCCCCTTCCTTCCTCCCCTCCCTCCCCTTCCTTCCTCCC TC	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	1/30			chr20	TogoVar
RBFOX3_chr17_79084345_79616051	79245543	C C	CACTCCCG others(621): Show CACTCCCGCCGCCCACCCCCACTGCCGCCGCCCACCCCCACTGCCGCCGC CCACCCCCACTGCCGCCGCCCACCCCCACTGCCGCCGCCCACCCCCACTC CCGCCGCCCACCCCCACTCCCGCCGCCCACCCCCACTGCCGCCGCCCACC CCCACTGCCGCCGCCCACCCCCACTCCCGCCGCCCACCCCCACTGCCGCC GCCCACCCCCACTCCCGCCGCCCACCCCCACTGCCGCCGCCCACCCCCAC TGCCGCCGCCCACCCCCACTGCCGCCGCCCACCCCCACTGCCGCCGCCCA CCCCCACTGCCGCCGCCCACCCCCACTCCCGCCGCCCACCCCCACTGCCG CCGCCCACCCCCACTCCCGCCGCCCACCCCCACTCCCGCCGCTCATCTCC AGGACTTCTTCATCTCTCCAAACCAAAGCTCTGTCCCCGTTAAACACCCA CTCTCCACTCCCCCTTCAGCCCCTGGCAACGCCCATTCTACTTTCTATCT CTATGACTTGGCCTACTCTAGGGACCCTCATTTACGTGGAATCAGATGAC ATTTGTCCTTTTGTGCCCGGCCATTTCACTCAGCATAATGTCCTCAAGGT TCATCCCTGTTGCAGCCGGGGTCAGAATT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0153 a0001c0002t0002g0153	1	151	0.0066	628	c.-73 others(645): Show c.-73-9739_-73-9738insAATTCTGACCCCGGCTGCAACAGGGATG AACCTTGAGGACATTATGCTGAGTGAAATGGCCGGGCACAAAAGGACAAA TGTCATCTGATTCCACGTAAATGAGGGTCCCTAGAGTAGGCCAAGTCATA GAGATAGAAAGTAGAATGGGCGTTGCCAGGGGCTGAAGGGGGAGTGGAGA GTGGGTGTTTAACGGGGACAGAGCTTTGGTTTGGAGAGATGAAGAAGTCC TGGAGATGAGCGGCGGGAGTGGGGGTGGGCGGCGGGAGTGGGGGTGGGCG GCGGCAGTGGGGGTGGGCGGCGGGAGTGGGGGTGGGCGGCGGCAGTGGGG GTGGGCGGCGGCAGTGGGGGTGGGCGGCGGCAGTGGGGGTGGGCGGCGGC AGTGGGGGTGGGCGGCGGCAGTGGGGGTGGGCGGCGGGAGTGGGGGTGGG CGGCGGCAGTGGGGGTGGGCGGCGGGAGTGGGGGTGGGCGGCGGCAGTGG GGGTGGGCGGCGGCAGTGGGGGTGGGCGGCGGGAGTGGGGGTGGGCGGCG GGAGTGGGGGTGGGCGGCGGCAGTGGGGGTGGGCGGCGGCAGTGGGGGTG GGCGGCGGCAGTGGGGGTGGGCGGCGGCAGTGGGGGTGGGCGGCGGGAGT	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	3/14			chr17	TogoVar
RUNX1_chr21_34782801_35054302	34931569	A A	ATGTATAC others(621): Show ATGTATACATACAGACATGTATGTATAATATATATACATATAGACATGTA TATTATATGTACATATATGTATATATTATATATACATATATATGTATATA TAATATATACATGTATATATTATACATGTATATATTAATATATAATATAT AGTATATATATACATGTATATATTATATATAAAGTATATATTATATATAC GTGTATACAATATATATACGTGTATATATATTATATACACGTATATATAA TATATTGTATACAGGTATATATACATGTATATAATATATATGTATATATA ATATATTGTATACATGTATATATATACATGATATATACACATATATATCG TGTATATATACACATATATGTATATATATACATGATATATACATACATAT ATATCATGTGTATATATATACATAATATACACGTATATATACATACATAT ATACATGTATATATACACATATATACATACATATATATACATGTATATAT ACACACATATATATGTGTATGTATATGTGTGTGTGTGTGTGTGTGTGTGT GTATATATATATATATATATATATATATATATATATATATATATATATAA TTTTACAACTAACATTAGCCATTGAATAG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0157 a0001c0001t0002g0157	1	121	0.0083	628	c.59- others(645): Show c.59-38607_59-38606insCTATTCAATGGCTAATGTTAGTTGTAAA ATTATATATATATATATATATATATATATATATATATATATATATATATA CACACACACACACACACACACACACATATACATACACATATATATGTGTG TATATATACATGTATATATATGTATGTATATATGTGTATATATACATGTA TATATGTATGTATATATACGTGTATATTATGTATATATATACACATGATA TATATGTATGTATATATCATGTATATATATACATATATGTGTATATATAC ACGATATATATGTGTATATATCATGTATATATATACATGTATACAATATA TTATATATACATATATATTATATACATGTATATATACCTGTATACAATAT ATTATATATACGTGTATATAATATATATACACGTATATATATTGTATACA CGTATATATAATATATACTTTATATATAATATATACATGTATATATATAC TATATATTATATATTAATATATACATGTATAATATATACATGTATATATT ATATATACATATATATGTATATATAATATATACATATATGTACATATAAT ATACATGTCTATATGTATATATATTATACATACATGTCTGTATGTATACA	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
SAMM50_chr22_43950442_44001529	43980136	A A	ACATCCAT others(621): Show ACATCCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCCATCC ATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCCAT CCACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCCATCC ACCCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCAC CCATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCCATCC ACCCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCATCCAT CCATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCC ATCCACTCATCCATCCATCCATCCGTCCATCCACCCACCCACACACACAC CTATCCATCCATCCACCCATCAACCCATCCACCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATTCATTCATCCATCCATCCATCCATCTAC CCATCCACCCACCCACCCACACACCTATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCACCCATCCAT CCATCCACCCACCCACCCACCCACCCATC	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02132.hp1 HG02027.hp1 HG02132.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0226 a0002c0001t0001g0247 a0002c0001t0001g0226 a0002c0001t0001g0247	2	9	0.2222	628	c.937 others(645): Show c.937-1228_937-1227insCCATCCATCCACTCATCCATCCATCCAT CCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCCATCCACCC ACCCACACACACACCTATCCATCCATCCACCCATCCACCCATCCACCCAT CCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCACCCATCC ACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCCATCCACCCAT CCACCCATCCACCCACCCACCTACCCACCCACACACCCATCCATCCATCC ATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCAC TCATCCATCCATCCATCCGTCCATCCACCCACCCACACACACACCTATCC ATCCATCCACCCATCAACCCATCCACCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATTCATTCATCCATCCATCCATCCATCTACCCATCC ACCCACCCACCCACACACCTATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCACCCACCCACCCACCCACCCACCCATCCATCCATCC ACCCACCCACCCACCCACCCATCCATCCATCCATCCATCCATCCATCCAT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SAMM50_chr22_43950442_44001529	43980136	A A	ACATCCAT others(621): Show ACATCCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCCATCC ATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCCAT CCACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCCATCC ACCCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCAC CCATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCCATCC ACCCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCATCCAT CCATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCC ATCCACTCATCCATCCATCCATCCGTCCATCCACCCACCCACACACACAC CTATCCATCCATCCACCCATCAACCCATCCACCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATTCATTCATCCATCCATCCATCCATCTAC CCATCCACCCACCCACCCACACACCTATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCATCCATCCAT CCATCCACCCACCCACCCACCCACCCATC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00438.hp2 others(51): Show HG00140.hp2 HG00323.hp2 HG00438.hp2 HG00609.hp2 HG00621.hp2 HG00639.hp2 HG00738.hp1 HG01074.hp1 HG01074.hp2 HG01123.hp1 HG01192.hp2 HG01258.hp2 HG01261.hp1 HG01361.hp2 HG01515.hp1 HG01934.hp1 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp2 HG02040.hp1 HG02083.hp1 HG02129.hp1 HG02300.hp2 HG03654.hp2 HG03688.hp1 HG04184.hp2 NA18747.hp2 NA18939.hp2 NA18940.hp2 NA18945.hp1 NA18947.hp1 NA18947.hp2 NA18951.hp1 NA18953.hp1 NA18955.hp2 NA18959.hp1 NA18965.hp1 NA18968.hp1 NA18990.hp2 NA18997.hp2 NA18999.hp2 NA19002.hp2 NA19010.hp2 NA19011.hp1 NA19056.hp1 NA19062.hp2 NA19063.hp1 NA19082.hp2 NA19086.hp2 NA19089.hp1 NA19091.hp1 NA20752.hp2	a0002 a0005 a0002 a0005	a0002c0001 a0002c0018 a0005c0019 a0002c0001 a0002c0018 a0005c0019	a0002c0001t0001 a0002c0018t0001 a0005c0019t0007 a0002c0001t0001 a0002c0018t0001 a0005c0019t0007	a0002c0001t0001g0005 a0002c0001t0001g0021 a0002c0001t0001g0022 others(45): Show a0002c0001t0001g0005 a0002c0001t0001g0021 a0002c0001t0001g0022 a0002c0001t0001g0024 a0002c0001t0001g0025 a0002c0001t0001g0181 a0002c0001t0001g0182 a0002c0001t0001g0185 a0002c0001t0001g0190 a0002c0001t0001g0194 a0002c0001t0001g0196 a0002c0001t0001g0199 a0002c0001t0001g0202 a0002c0001t0001g0203 a0002c0001t0001g0204 a0002c0001t0001g0205 a0002c0001t0001g0206 a0002c0001t0001g0207 a0002c0001t0001g0208 a0002c0001t0001g0210 a0002c0001t0001g0211 a0002c0001t0001g0212 a0002c0001t0001g0213 a0002c0001t0001g0214 a0002c0001t0001g0215 a0002c0001t0001g0216 a0002c0001t0001g0220 a0002c0001t0001g0222 a0002c0001t0001g0223 a0002c0001t0001g0224 a0002c0001t0001g0227 a0002c0001t0001g0232 a0002c0001t0001g0233 a0002c0001t0001g0234 a0002c0001t0001g0237 a0002c0001t0001g0239 a0002c0001t0001g0240 a0002c0001t0001g0241 a0002c0001t0001g0248 a0002c0001t0001g0251 a0002c0001t0001g0254 a0002c0001t0001g0258 a0002c0001t0001g0268 a0002c0001t0001g0270 a0002c0001t0001g0272 a0002c0001t0001g0274 a0002c0018t0001g0219 a0005c0019t0007g0231	54	61	0.8852	628	c.937 others(645): Show c.937-1228_937-1227insCCATCCATCCACTCATCCATCCATCCAT CCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCCATCCACCC ACCCACACACACACCTATCCATCCATCCACCCATCCACCCATCCACCCAT CCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCACCCATCC ACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCCATCCACCCAT CCACCCATCCACCCACCCACCTACCCACCCACACACCCATCCATCCATCC ATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCAC TCATCCATCCATCCATCCGTCCATCCACCCACCCACACACACACCTATCC ATCCATCCACCCATCAACCCATCCACCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATTCATTCATCCATCCATCCATCCATCTACCCATCC ACCCACCCACCCACACACCTATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCACCCACCCACCCACCCACCCATCCATCCATCCATCC ACCCACCCACCCACCCACCCATCCATCCATCCATCCATCCATCCATCCAT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SAMM50_chr22_43950442_44001529	43980136	A A	ACATCCAT others(621): Show ACATCCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCCATCC ATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCCAT CCACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCCATCC ACCCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCAC CCATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCCATCC ACCCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCATCCAT CCATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCC ATCCACTCATCCATCCATCCATCCGTCCATCCACCCACCCACACACACAC CTATCCATCCATCCACCCATCAACCCATCCACCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATTCATTCATCCATCCATCCATCTACCCAT CCACCCACCCACCCACACACCTATCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCATCCATCCAT CCATCCACCCACCCACCCACCCACCCATC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0192 a0002c0001t0001g0192	1	8	0.1250	628	c.937 others(645): Show c.937-1228_937-1227insCCATCCATCCACTCATCCATCCATCCAT CCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCCATCCACCC ACCCACACACACACCTATCCATCCATCCACCCATCCACCCATCCACCCAT CCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCACCCATCC ACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCCATCCACCCAT CCACCCATCCACCCACCCACCTACCCACCCACACACCCATCCATCCATCC ATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCAC TCATCCATCCATCCATCCGTCCATCCACCCACCCACACACACACCTATCC ATCCATCCACCCATCAACCCATCCACCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATTCATTCATCCATCCATCCATCTACCCATCCACCC ACCCACCCACACACCTATCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCACCCACCCACCCACCCACCCATCCATCCATCCATCC ACCCACCCACCCACCCACCCATCCATCCATCCATCCATCCATCCATCCAT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SAMM50_chr22_43950442_44001529	43980136	A A	ACATCCAT others(621): Show ACATCCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCCATCC ATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCCAT CCACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCCATCC ACCCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCAC CCATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCCATCC ACCCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCATCCAT CCATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCC ATCCACTCATCCATCCATCCATCCGTCCATCCACCCACCCACACACACAC CTATCCATCCATCCACCCATCAACCCATCCACCCATCCATCCATCCATCC ATCCATCCATCCATCCATTCATTCATCCATCCATCCATCCATCTACCCAT CCACCCACCCACCCACACACCTATCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCATCCATCCAT CCACCCACCCACCCACCCACCCACCCATC	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0109 a0001c0006t0001g0109	1	8	0.1250	628	c.937 others(645): Show c.937-1228_937-1227insCCATCCATCCACTCATCCATCCATCCAT CCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCCATCCACCC ACCCACACACACACCTATCCATCCATCCACCCATCCACCCATCCACCCAT CCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCACCCATCC ACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCCATCCACCCAT CCACCCATCCACCCACCCACCTACCCACCCACACACCCATCCATCCATCC ATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCAC TCATCCATCCATCCATCCGTCCATCCACCCACCCACACACACACCTATCC ATCCATCCACCCATCAACCCATCCACCCATCCATCCATCCATCCATCCAT CCATCCATCCATTCATTCATCCATCCATCCATCCATCTACCCATCCACCC ACCCACCCACACACCTATCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCACCCACCCACCCACCCACCCATCCATCCATCCACCC ACCCACCCACCCACCCACCCATCCATCCATCCATCCATCCATCCATCCAT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SAMM50_chr22_43950442_44001529	43980136	A A	ACATCCAT others(621): Show ACATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCC ATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGT CCATCCACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCC ATCCACCCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCAT CCACCCATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCC ATCCACCCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCAT CCATCCATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCC ATCCATCCACTCATCCATCCATCCATCCGTCCATCCACCCACCCACACAC ACACCTATCCATCCATCCACCCATCAACCCATCCACCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCATTCATCCATCCATCCATCCATCTAC CCATCCACCCACCCACCCACACACCTATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCATCCATCCAT CCATCCACCCACCCACCCACCCACCCATC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0332 a0001c0002t0001g0332	1	8	0.1250	628	c.937 others(645): Show c.937-1228_937-1227insCCATCCATCCATCCACTCATCCATCCAT CCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCCATCC ACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCCATCCAC CCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCACCC ATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCCATCCAC CCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCATCCATCC ATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCAT CCACTCATCCATCCATCCATCCGTCCATCCACCCACCCACACACACACCT ATCCATCCATCCACCCATCAACCCATCCACCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATTCATCCATCCATCCATCCATCTACCCATCC ACCCACCCACCCACACACCTATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCACCCACCCACCCACCCACCCATCCATCCATCCATCC ACCCACCCACCCACCCACCCATCCATCCATCCATCCATCCATCCATCCAT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SAMM50_chr22_43950442_44001529	43980136	A A	ACATCCAT others(621): Show ACATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCC ATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGT CCATCCACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCC ATCCACCCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCAT CCACCCATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCC ATCCACCCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCAT CCATCCATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCC ATCCATCCACTCATCCATCCATCCATCCGTCCATCCACCCACCCACACAC ACACCTATCCATCCATCCACCCATCAACCCATCCACCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCATTCATTCATCCATCCATCCATCCAT CTACCCATCCACCCACCCACCCACACACCTATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCATCCATCCAT CCATCCACCCACCCACCCACCCACCCATC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0331 a0001c0002t0001g0331	1	8	0.1250	628	c.937 others(645): Show c.937-1228_937-1227insCCATCCATCCATCCACTCATCCATCCAT CCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCCATCC ACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCCATCCAC CCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCACCC ATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCCATCCAC CCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCATCCATCC ATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCAT CCACTCATCCATCCATCCATCCGTCCATCCACCCACCCACACACACACCT ATCCATCCATCCACCCATCAACCCATCCACCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATTCATTCATCCATCCATCCATCCATCTACCC ATCCACCCACCCACCCACACACCTATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCACCCACCCACCCACCCACCCATCCATCCATCCATCC ACCCACCCACCCACCCACCCATCCATCCATCCATCCATCCATCCATCCAT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SAMM50_chr22_43950442_44001529	43980136	A A	ACATCCAT others(621): Show ACATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCC ATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGT CCATCCACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCC ATCCACCCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCAT CCACCCATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCC ATCCACCCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCAT CCATCCATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCC ATCCATCCACTCATCCATCCATCCATCCGTCCATCCACCCACCCACACAC ACACCTATCCATCCATCCACCCATCAACCCATCCACCCATCCATCCATCC ATCCATCCATCCATCCATCCATTCATTCATCCATCCATCCATCCATCTAC CCATCCACCCACCCACCCACACACCTATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCATCCATCCAT CCACCCACCCACCCACCCACCCACCCATC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01167.hp1 HG01169.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0103 a0001c0006t0001g0106 a0001c0006t0001g0103 a0001c0006t0001g0106	2	9	0.2222	628	c.937 others(645): Show c.937-1228_937-1227insCCATCCATCCATCCACTCATCCATCCAT CCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCCATCC ACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCCATCCAC CCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCACCC ATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCCATCCAC CCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCATCCATCC ATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCAT CCACTCATCCATCCATCCATCCGTCCATCCACCCACCCACACACACACCT ATCCATCCATCCACCCATCAACCCATCCACCCATCCATCCATCCATCCAT CCATCCATCCATCCATTCATTCATCCATCCATCCATCCATCTACCCATCC ACCCACCCACCCACACACCTATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCACCCACCCACCCACCCACCCATCCATCCATCCACCC ACCCACCCACCCACCCACCCATCCATCCATCCATCCATCCATCCATCCAT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SAMM50_chr22_43950442_44001529	43980136	A A	ACATCCAT others(621): Show ACATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCACTC ATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCAT CCGTCCATCCACCCACCCACACACACACCTATCCATCCATCCACCCATCC ACCCATCCACCCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCAT CCATCCACCCATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCC ACCCATCCACCCATCCACCCATCCACCCACCCACCTACCCACCCACACAC CCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCCATCCATCC ATCCATCCATCCACTCATCCATCCATCCATCCGTCCATCCACCCACCCAC ACACACACCTATCCATCCATCCACCCATCAACCCATCCACCCATCCATCC ATCCATCCATCCATTCATTCATCCATCCATCCATCCATCTACCCATCCAC CCACCCACCCACACACCTATCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCACCCACCCACCCACCCACCCATCCATCCATCCAT CCACCCACCCACCCACCCACCCATCCATC	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0005 a0001c0007t0005	a0001c0007t0005g0037 a0001c0007t0005g0037	1	8	0.1250	628	c.937 others(645): Show c.937-1228_937-1227insCCATCCATCCATCCATCCACTCATCCAT CCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCC ATCCACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCCAT CCACCCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCC ACCCATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCCAT CCACCCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCATCC ATCCATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCAT CCATCCACTCATCCATCCATCCATCCGTCCATCCACCCACCCACACACAC ACCTATCCATCCATCCACCCATCAACCCATCCACCCATCCATCCATCCAT CCATCCATTCATTCATCCATCCATCCATCCATCTACCCATCCACCCACCC ACCCACACACCTATCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCACCCACCCACCCACCCACCCATCCATCCATCCATCCACCC ACCCACCCACCCACCCATCCATCCATCCATCCATCCATCCATCCATCCAT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SDK1_chr7_3296252_4274000	3976544	A A	AGGGTCCC others(621): Show AGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACT GAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCAC TGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCA CTGGGGGTCCCGGGGCTGAGGCTGCGAGGCTGCCACACAGACGGTCCTCC AGAGAATCACTGAGGGTCCCAGGGCTGAGGCTGCCACGCAGAGGGTCCTC CAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCT CCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACACAGAGGGTCC TCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTC CTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGT CCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGG TCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGG GTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCGAGGCTGCC ACGCAGAGGGTCCTCCAGAGAATCACTGG	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0051 a0001c0005t0051	a0001c0005t0051g0030 a0001c0005t0051g0030	1	94	0.0106	628	c.199 others(647): Show c.1994+2049_1994+2050insAGGGTCCCGGGGCTGAGGCTGCCACG CAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCAC GCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCGA GGCTGCCACACAGACGGTCCTCCAGAGAATCACTGAGGGTCCCAGGGCTG AGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCT GAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGC TGAGGCTGCCACACAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGG CTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGG GCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGG GGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCG GGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCC GGGGCTGAGGCTGCGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACT GGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCAC TG	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SEPTIN9_chr17_77276499_77505593	77356670	C C	CCCCCTCC others(621): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTACCTCCTCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCTCTCCCCCTTCCCT CCCCTCCCCCTCCCCCTCCCCTCCCCTTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCA CCCCTTCCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCACCCCTTCCC CCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCACCCCTCCCCCTC CCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCAC CCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCC CCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCC CCCCTCCCCTCCCCATCCCCTCCCCTCCCCCCTCCCCTTCCCCCTCCCCC CTCCCCTTCCCCCTCCCCCCCCTCCCCCCTCCCCCCCCCTCCCCCCTCCC CCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0131 a0001c0001t0002g0131	1	40	0.0250	628	c.77- others(645): Show c.77-45374_77-45373insTCCCCTCCCCTCCCCTCCCCTACCTCCT CCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCTCTCCCCC TTCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTTCCCCTCCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCC TCCCCACCCCTTCCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCACCC CTTCCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCACCCCTC CCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCT CCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCC CCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTC CCCTCCCCCCTCCCCTCCCCATCCCCTCCCCTCCCCCCTCCCCTTCCCCC TCCCCCCTCCCCTTCCCCCTCCCCCCCCTCCCCCCTCCCCCCCCCTCCCC CCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCTCCCCCTTTCCCTTCCCCTCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77356670	C C	CCCCCTCC others(621): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTACCTCCTCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCTCTCCCCCTTCCCT CCCCTCCCCCTCCCCCTCCCCTCCCCTTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCA CCCCTTCCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCACCCCTTCCC CCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCACCCCTCCCCCTC CCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCAC CCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCC CCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCC CCCCTCCCCTCCCCATCCCCTCCCCTCCCCCCTCCCCTTCCCCCTCCCCC CTCCCCTTCCCCCTCCCCCCCCTCCCCCCTCCCCCCCCCTCCCCCCTCCC CCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0077 a0001c0001t0002g0077	1	45	0.0222	628	c.22+ others(645): Show c.22+36337_22+36338insTCCCCTCCCCTCCCCTCCCCTACCTCCT CCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCTCTCCCCC TTCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTTCCCCTCCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCC TCCCCACCCCTTCCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCACCC CTTCCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCACCCCTC CCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCT CCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCC CCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTC CCCTCCCCCCTCCCCTCCCCATCCCCTCCCCTCCCCCCTCCCCTTCCCCC TCCCCCCTCCCCTTCCCCCTCCCCCCCCTCCCCCCTCCCCCCCCCTCCCC CCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCTCCCCCTTTCCCTTCCCCTCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SERPINF2_chr17_1737871_1760265	1739135	A A	AGCCTGAT others(621): Show AGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCT GATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGC AGGGAGTGAGGAACAGGACAGTGAGGCTGGGAAGGAGCCTGATGCAGGGA GTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAG GAGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCA GGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAACAGGACA GTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAG GGTGGGAAGTGGCCTGATGCAGGGAGTGAGGAGCAGGTGTGAGGGCGGGA AGCGGCCTGATTCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAG CCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGA TGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAGGCGGCCTGATGCAG GGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGT GAGGCGCAGGACAGTGAGGGTGGGAGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp2 NA18943.hp1 NA18945.hp2 others(6): Show HG02735.hp2 NA18943.hp1 NA18945.hp2 NA18970.hp2 NA19062.hp1 NA19066.hp2 NA19078.hp2 NA19081.hp1 NA19086.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0006 a0002c0002t0001g0050 others(1): Show a0002c0002t0001g0002 a0002c0002t0001g0006 a0002c0002t0001g0050 a0002c0002t0001g0055	9	315	0.0286	628	c.-37 others(639): Show c.-3778_-3777insGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAG GGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGG GAAGGAGCCTGATGCAGGGAGTGAGGAACAGGACAGTGAGGCTGGGAAGG AGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCT GATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGC AGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGA GTGAGGAACAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAG GAGCAGGACAGTGAGGGTGGGAAGTGGCCTGATGCAGGGAGTGAGGAGCA GGTGTGAGGGCGGGAAGCGGCCTGATTCAGGGAGTGAGGCGCAGGACAGT GAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGG TGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGA GGCGGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAG CCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAGGCG	SERPINF2	ENSG00000167711.14	transcript	ENST00000453066.6	protein_coding		3735		chr17	TogoVar
SERPINF2_chr17_1737871_1760265	1739135	A A	AGCCTGAT others(621): Show AGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCT GATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGC AGGGAGTGAGGAACAGGACAGTGAGGCTGGGAAGGAGCCTGATGCAGGGA GTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAG GAGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCA GGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAACAGGACA GTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAG GGTGGGAAGTGGCCTGATGCAGGGAGTGAGGAGCAGGTGTGAGGGCGGGA AGCGGCCTGATTCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAG CCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGA TGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAGGCGGCCTGATGCAG GGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGT GAGGCGCAGGACAGTGAGGGTGGGAGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0006 a0002c0002t0001g0006	1	307	0.0033	628	c.-37 others(639): Show c.-3778_-3777insGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAG GGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGG GAAGGAGCCTGATGCAGGGAGTGAGGAACAGGACAGTGAGGCTGGGAAGG AGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCT GATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGC AGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGA GTGAGGAACAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAG GAGCAGGACAGTGAGGGTGGGAAGTGGCCTGATGCAGGGAGTGAGGAGCA GGTGTGAGGGCGGGAAGCGGCCTGATTCAGGGAGTGAGGCGCAGGACAGT GAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGG TGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGA GGCGGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAG CCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAGGCG	SERPINF2	ENSG00000167711.14	transcript	ENST00000453066.6	protein_coding		3735		chr17	TogoVar
SH3BP5_chr3_15249353_15337586	15272534	C C	CATTACAA others(621): Show CATTACAAAACAGAGTGCCTGTAGGATAAAGACATTACAAAACAGAGTGC CCGTAGGATAAAGACATATTACAAAACAGAGTGCCTGTAGGATAAAGACA TATTACAAAACAGAGTGCCCGTAGGATAAAGACATATTACAAAACAGAGT GCCTGTAGGATAAAGACATATTACAAAACAGAGTGCCTGTAGGATAAAGA CATTACAAAACAGAGTGCCCGTAGGATAAAGACATATTACAAAACAGAGT GCCTGTAGGATAAAGACATATTACAAAACAGAGTGCCTGTAGGATAAAGA CATTACAAAACAGAGTGCCCGTAGGATAAAGACATATTACAAAACAGAGT GCCTGTAGGATAAAGACATTACAAAACAGAGTGCCTGTAGGATAAAGACA TTACAAAACAGAGTGCCCGTAGGATAAAGACATATTACAAAACAGAGTGC CTGTAGGATAAAGACATTACAAAACAGAGTGCCTGTAGGATAAAGACATT ACAAAACAGAGTGCCTGTAGGATAAAGACATTACAAAACAGAGTGCCCGT AGGATAAAGACATATTACAAAACAGAGTGCCTGTAGGATAAAGACATTAC AAAACAGAGTGCCTGTAGGATAAAGACAT	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0132 a0001c0001t0003g0132	1	319	0.0031	628	c.331 others(645): Show c.331-2658_331-2657insATGTCTTTATCCTACAGGCACTCTGTTT TGTAATGTCTTTATCCTACAGGCACTCTGTTTTGTAATATGTCTTTATCC TACGGGCACTCTGTTTTGTAATGTCTTTATCCTACAGGCACTCTGTTTTG TAATGTCTTTATCCTACAGGCACTCTGTTTTGTAATGTCTTTATCCTACA GGCACTCTGTTTTGTAATATGTCTTTATCCTACGGGCACTCTGTTTTGTA ATGTCTTTATCCTACAGGCACTCTGTTTTGTAATGTCTTTATCCTACAGG CACTCTGTTTTGTAATATGTCTTTATCCTACGGGCACTCTGTTTTGTAAT GTCTTTATCCTACAGGCACTCTGTTTTGTAATATGTCTTTATCCTACAGG CACTCTGTTTTGTAATATGTCTTTATCCTACGGGCACTCTGTTTTGTAAT GTCTTTATCCTACAGGCACTCTGTTTTGTAATATGTCTTTATCCTACAGG CACTCTGTTTTGTAATATGTCTTTATCCTACGGGCACTCTGTTTTGTAAT ATGTCTTTATCCTACAGGCACTCTGTTTTGTAATATGTCTTTATCCTACG GGCACTCTGTTTTGTAATGTCTTTATCCTACAGGCACTCTGTTTTGTAAT	SH3BP5	ENSG00000131370.16	transcript	ENST00000383791.8	protein_coding	3/8			chr3	TogoVar
SLC6A3_chr5_1387794_1450440	1422744	C C	CCACAGTG others(621): Show CCACAGTGCTGCCCACGCTGCTGGGTACCCACCGCTGCCCAGTGCTGCCC ACGCTGCTGGGTGCCCACCGCTGCCCACAGTGCTGCCCACGCTGCTGGGT GCCCACCGCTGCCCACAGTGCTGCCCATGCTGCTGGGTGCCCACCGCTGC CCACAGTGCTGCCCACGCTGCTGGGTGCCCACCGCTGCCCACAGTACTGC CCAAGGTGCTGGGTGCCCACCGCTGCCCACAGTGCTGCCCACGCTGCTGG GTGCCCACCGCTGCCCAGTGCTGCCCACGCTGCTGGGTACCCACCGCTGC CCAGTGCTGCCCACGGTGCTGGGTGCCCACCGCTGCCCACGGTGCTGGGT GCCCACCGCTGCCCACAGTGCTGCCCACGCTGCTGGGTACCCACCGCTGC CCAGTGCTGCCCACGCTGCTGGGTGCCCACCGATGCCCACAGTGCTGCCC ACGCTGCTGGGTGCCCACCGCTGCCCACAGTGCTGCCCACGCTGCTGGGT GCCCACCGCTGCCCACAGTACTGCCCAAGGTGCTGGGTAACCACCGCTGC CCACAGTGCTGCTCACGGTGCTGGGTACCCACCGCTGCCCACAGTGCTGC CCACGGTGCTGGGTGCCCACCGCTGCCCA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02622.hp1 HG02630.hp1 others(1): Show HG02451.hp2 HG02622.hp1 HG02630.hp1 HG03540.hp1	a0001 a0001	a0001c0003 a0001c0017 a0001c0003 a0001c0017	a0001c0003t0001 a0001c0003t0004 a0001c0003t0028 others(1): Show a0001c0003t0001 a0001c0003t0004 a0001c0003t0028 a0001c0017t0016	a0001c0003t0001g0036 a0001c0003t0004g0129 a0001c0003t0028g0131 others(1): Show a0001c0003t0001g0036 a0001c0003t0004g0129 a0001c0003t0028g0131 a0001c0017t0016g0130	4	190	0.0211	628	c.654 others(643): Show c.654-731_654-730insTGGGCAGCGGTGGGCACCCAGCACCGTGGG CAGCACTGTGGGCAGCGGTGGGTACCCAGCACCGTGAGCAGCACTGTGGG CAGCGGTGGTTACCCAGCACCTTGGGCAGTACTGTGGGCAGCGGTGGGCA CCCAGCAGCGTGGGCAGCACTGTGGGCAGCGGTGGGCACCCAGCAGCGTG GGCAGCACTGTGGGCATCGGTGGGCACCCAGCAGCGTGGGCAGCACTGGG CAGCGGTGGGTACCCAGCAGCGTGGGCAGCACTGTGGGCAGCGGTGGGCA CCCAGCACCGTGGGCAGCGGTGGGCACCCAGCACCGTGGGCAGCACTGGG CAGCGGTGGGTACCCAGCAGCGTGGGCAGCACTGGGCAGCGGTGGGCACC CAGCAGCGTGGGCAGCACTGTGGGCAGCGGTGGGCACCCAGCACCTTGGG CAGTACTGTGGGCAGCGGTGGGCACCCAGCAGCGTGGGCAGCACTGTGGG CAGCGGTGGGCACCCAGCAGCATGGGCAGCACTGTGGGCAGCGGTGGGCA CCCAGCAGCGTGGGCAGCACTGTGGGCAGCGGTGGGCACCCAGCAGCGTG GGCAGCACTGGGCAGCGGTGGGTACCCAGCAGCGTGGGCAGCACTGTG	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	4/14			chr5	TogoVar
SLC6A3_chr5_1387794_1450440	1422744	C C	CCACAGTG others(621): Show CCACAGTGCTGCCCACGCTGCTGGGTACCCACCGCTGCCCAGTGCTGCCC ACGCTGCTGGGTGCCCACCGCTGCCCACAGTGCTGCCCACGCTGCTGGGT GCCCACCGCTGCCCACAGTGCTGCCCATGCTGCTGGGTGCCCACCGCTGC CCACAGTGCTGCCCACGCTGCTGGGTGCCCACCGCTGCCCACAGTACTGC CCAAGGTGCTGGGTGCCCACCGCTGCCCACAGTGCTGCCCACGCTGCTGG GTGCCCACCGCTGCCCAGTGCTGCCCACGCTGCTGGGTACCCACCGCTGC CCAGTGCTGCCCACGGTGCTGGGTGCCCACCGCTGCCCACGGTGCTGGGT GCCCACCGCTGCCCACAGTGCTGCCCACGCTGCTGGGTGCCCACCGCTGC CCAGTGCTGCCCACGCTGCTGGGTGCCCACCGATGCCCACAGTGCTGCCC ACGCTGCTGGGTGCCCACCGCTGCCCACAGTGCTGCCCACGCTGCTGGGT GCCCACCGCTGCCCACAGTACTGCCCAAGGTGCTGGGTAACCACCGCTGC CCACAGTGCTGCTCACGGTGCTGGGTACCCACCGCTGCCCACAGTGCTGC CCACGGTGCTGGGTGCCCACCGCTGCCCA	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0339 a0001c0001t0001g0339	1	187	0.0053	628	c.654 others(643): Show c.654-731_654-730insTGGGCAGCGGTGGGCACCCAGCACCGTGGG CAGCACTGTGGGCAGCGGTGGGTACCCAGCACCGTGAGCAGCACTGTGGG CAGCGGTGGTTACCCAGCACCTTGGGCAGTACTGTGGGCAGCGGTGGGCA CCCAGCAGCGTGGGCAGCACTGTGGGCAGCGGTGGGCACCCAGCAGCGTG GGCAGCACTGTGGGCATCGGTGGGCACCCAGCAGCGTGGGCAGCACTGGG CAGCGGTGGGCACCCAGCAGCGTGGGCAGCACTGTGGGCAGCGGTGGGCA CCCAGCACCGTGGGCAGCGGTGGGCACCCAGCACCGTGGGCAGCACTGGG CAGCGGTGGGTACCCAGCAGCGTGGGCAGCACTGGGCAGCGGTGGGCACC CAGCAGCGTGGGCAGCACTGTGGGCAGCGGTGGGCACCCAGCACCTTGGG CAGTACTGTGGGCAGCGGTGGGCACCCAGCAGCGTGGGCAGCACTGTGGG CAGCGGTGGGCACCCAGCAGCATGGGCAGCACTGTGGGCAGCGGTGGGCA CCCAGCAGCGTGGGCAGCACTGTGGGCAGCGGTGGGCACCCAGCAGCGTG GGCAGCACTGGGCAGCGGTGGGTACCCAGCAGCGTGGGCAGCACTGTG	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	4/14			chr5	TogoVar
SLIT3_chr5_168656740_169306139	168726523	G G	GGAGGGAG others(621): Show GGAGGGAGAGGGAGGCAGGGAGGGAGGGAGGGAGAGGGAGGCAGGGAGAG AGGGAGAGGGAGGCAGGGAGGGAGGGAGGGAGAGGGAGGCAGGGAGGGAG CGAGGGAGAGGGAGGCAAGGAGGGAGGGAGGGAGAGGGAGGGAGGGTGGG AGGGAGGGAGAGGGAGGCAAGGAGGGAGGGAGGGTGGGAGGGAGGGAGAG GGAGGGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGTGGGAG GGAGGGAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGAGAGGGAGGGTGGG AGGGAGGGAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGAG GGAGGGAGGGAGGGAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGG TGGGAGAGGGGGAGGCAGGGAGGGAGGGAGAGGGAGGCAGGGAGGGAGGG AGGGAGAGGGAGGCAGGGAGGGAGGGAGGGGGAGGGAGGCAGGGAGAGGG AGGCAAGGAGGGAGGGAGGGAGAGGGAGGCAGGGAGGGAGGGAGAGGGAG GGAGAGGGAGGCAGGGAGAGAGGGAGGGAGAGGGAGGCAGGGAGGGAGAG GGACGCAGGGGGAGAGGTAGGGAGGGAGA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0011 a0011	a0011c0031 a0011c0031	a0011c0031t0006 a0011c0031t0006	a0011c0031t0006g0084 a0011c0031t0006g0084	1	107	0.0093	628	c.227 others(647): Show c.2271-2040_2271-2039insTCTCCCTCCCTACCTCTCCCCCTGCG TCCCTCTCCCTCCCTGCCTCCCTCTCCCTCCCTCTCTCCCTGCCTCCCTC TCCCTCCCTCTCCCTCCCTCCCTGCCTCCCTCTCCCTCCCTCCCTCCTTG CCTCCCTCTCCCTGCCTCCCTCCCCCTCCCTCCCTCCCTGCCTCCCTCTC CCTCCCTCCCTCCCTGCCTCCCTCTCCCTCCCTCCCTGCCTCCCCCTCTC CCACCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCC TCCCTCCCTCCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTC CCTCCCACCCTCCCTCTCTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCC TCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCCC TCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCCTTGCCTCCCTCTCCCTC CCTCCCACCCTCCCTCCCTCTCCCTCCCTCCCTCCTTGCCTCCCTCTCCC TCGCTCCCTCCCTGCCTCCCTCTCCCTCCCTCCCTCCCTGCCTCCCTCTC CCTCTCTCCCTGCCTCCCTCTCCCTCCCTCCCTCCCTGCCTCCCTCTCCC TC	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	20/35			chr5	TogoVar
SMYD3_chr1_245744347_246512279	246243972	G G	GGCTGAAG others(621): Show GGCTGAAGCAGGAGGATCACCTGAGGCTAGGAGTTTGAAGCCACGGTCTG CTATGATCATACCACAGTATTCTAAAGCCCAGGCAACACAGTGAAACCCC ACTGCTTACCCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCTGGTC TCAGTGGCTCATGCCTGTAATCCTTGCATATCTTGGGATGGCAAGGAGGG AGCATCACTTGAGCCCAGGAGTTCAAAACCAGCCTGGGCAACACACTGAG ATTCCATCTCTCATTAAAATATTAGCTGGGTGCGATGGTGCATGCCTGCA GTCCCAGCTACTCCAGAGTCTGAGGTGGCAGGATTGCTTGAGCCCAGGAA GTCAAGGCTACAGTGAGCTGTGTTATTGCCACTGCACTCCAGCCAAGGTG ACCACAGCAAGACTCTGTCTCCAAAAAAAAAAAAAAAAGGCCAACCAATT TCCCAATCTAATGTGAAATATAAACTGAAGTGTAGCCTGTCATTTTTAAA AACTTCATACTCTATACATGCATACTTTTTGGTAATCAAATTTATAACGT GTGTCTAGGCAACCACACATTCAACAGACTACCACGACAGATTTTGCCTA GCACTGTGGTTTAAGAGAAGGATAACTAT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01081.hp2 HG01496.hp2 others(5): Show HG00738.hp1 HG01081.hp2 HG01496.hp2 HG02132.hp2 HG02615.hp2 NA18963.hp1 NA19057.hp2 NA19086.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0002c0003t0001 a0002c0004t0001	a0001c0001t0001g0084 a0001c0001t0001g0093 a0001c0001t0002g0059 others(5): Show a0001c0001t0001g0084 a0001c0001t0001g0093 a0001c0001t0002g0059 a0001c0002t0001g0022 a0001c0002t0002g0010 a0001c0002t0002g0048 a0002c0003t0001g0099 a0002c0004t0001g0098	8	105	0.0762	628	c.531 others(647): Show c.531+83228_531+83229insATAGTTATCCTTCTCTTAAACCACAG TGCTAGGCAAAATCTGTCGTGGTAGTCTGTTGAATGTGTGGTTGCCTAGA CACACGTTATAAATTTGATTACCAAAAAGTATGCATGTATAGAGTATGAA GTTTTTAAAAATGACAGGCTACACTTCAGTTTATATTTCACATTAGATTG GGAAATTGGTTGGCCTTTTTTTTTTTTTTTTGGAGACAGAGTCTTGCTGT GGTCACCTTGGCTGGAGTGCAGTGGCAATAACACAGCTCACTGTAGCCTT GACTTCCTGGGCTCAAGCAATCCTGCCACCTCAGACTCTGGAGTAGCTGG GACTGCAGGCATGCACCATCGCACCCAGCTAATATTTTAATGAGAGATGG AATCTCAGTGTGTTGCCCAGGCTGGTTTTGAACTCCTGGGCTCAAGTGAT GCTCCCTCCTTGCCATCCCAAGATATGCAAGGATTACAGGCATGAGCCAC TGAGACCAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGGTAAGC AGTGGGGTTTCACTGTGTTGCCTGGGCTTTAGAATACTGTGGTATGATCA TAGCAGACCGTGGCTTCAAACTCCTAGCCTCAGGTGATCCTCCTGCTTCA GC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
TERT_chr5_1248167_1300068	1273007	A A	ACACATCA others(621): Show ACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCC ACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACA GTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGA CCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCA TCCACAGTCACCACACATCAGACCCCACGACCACCATCCACAGTCACCAC ACATCAGACCCCACGACCGCCATCCACAGTCACATCAGACCCCCACAACC GCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACC ACACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCAC GACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGT CACCACACATCAGACCCCACAACCGCCATCCACAGTCACCACATCAGACC CCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCACCATCCA CAGTCACCACACATCAGACCCCACGACCACCATCCACAGTCACCACACAT CAGACCCCACGACCGCCATCCACAGTCAC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0314 a0001c0001t0001g0314	1	378	0.0026	628	c.228 others(645): Show c.2287-728_2287-727insGTGACTGTGGATGGCGGTCGTGGGGTCT GATGTGTGGTGACTGTGGATGGTGGTCGTGGGGTCTGATGTGTGGTGACT GTGGATGGTGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTG GGGTCTGATGTGGTGACTGTGGATGGCGGTTGTGGGGTCTGATGTGTGGT GACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGT CGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTG TGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGG CGGTTGTGGGGGTCTGATGTGACTGTGGATGGCGGTCGTGGGGTCTGATG TGTGGTGACTGTGGATGGTGGTCGTGGGGTCTGATGTGTGGTGACTGTGG ATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGG GTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGA CTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCG TGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273402	A A	ACATCAGA others(621): Show ACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCTACGA CCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGT CACCACACATCAGACCCCACAACCGCCATCCACAGTCACCACATCAGACC CCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCA CAGTCACCACACATCAGACCCCACAACCGCCATCCACAGTCACCACACAT CAGACCCCACAACCGCCATCCACAGTCACCACACATCAGACCCCACAACC GCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACC ACACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCAC GACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACA GTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACC CCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCA CAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACAT CAGACCCCACGACCGCCATCCACAGTCAC	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0001 a0001c0024t0001	a0001c0024t0001g0382 a0001c0024t0001g0382	1	371	0.0027	628	c.228 others(647): Show c.2287-1123_2287-1122insGTGACTGTGGATGGCGGTCGTGGGGT CTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGA CTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCG TGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGT GACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCG GTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATG TGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGAT GGCGGTTGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTTGTGGGGT CTGATGTGTGGTGACTGTGGATGGCGGTTGTGGGGTCTGATGTGTGGTGA CTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCG TGGGGTCTGATGTGGTGACTGTGGATGGCGGTTGTGGGGTCTGATGTGTG GTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGG CGGTCGTAGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGA TG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TLL2_chr10_96359608_96518926	96415729	G G	GTCTCTCT others(621): Show GTCTCTCTCTGTCTCTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTGT CTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTCT CTGTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCT CTGTCTCTCTCTCTCTGTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCT CTCTCTGTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTCT CTGTCTCTCTCTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCTCTGTCTCT GTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTTTCTCTCTCT GTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTCTGTCTCTTTCT CTCTCTCTCTCTCTCTGTCTCTCTCTGTCTCTTTCTCTCTGTCTCTCTCT GTCTCTTTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTCT CTCTGTCTCTTTCTCTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCTCTGT CTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTCTCTGTCTCTCTCT GTCTCTCTCTCTGTCTCTCTCTCTCTGTC	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	111	0.0090	628	c.924 others(645): Show c.924-2414_924-2413insGACAGAGAGAGAGAGACAGAGAGAGAGA CAGAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGA GACAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGAGAAAGAGACAGA GAGAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAAAGAGA CAGAGAGAGACAGAGAGAAAGAGACAGAGAGAGACAGAGAGAGAGAGAGA GAGAAAGAGACAGAGAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAGAGA CAGAGAGAGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGAGAGAGAGA CAGAGACAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGAGAGAGACA GAGAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGAGAGACAGAGA GAGAGACAGAGAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGAGAGACA GAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGAGACA GAGAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGA GACAGAGAGAGAGAGACAGAGAGAGAGAGAGAGAGAGAGACAGAGAGAGA	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding	7/20			chr10	TogoVar
TLL2_chr10_96359608_96518926	96415739	G G	GTCTCTCT others(621): Show GTCTCTCTCTCTCTCTCTCTCTCTGTCTCTCTCTGTCTCTCTCTCTGTCT CTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTGTCTCTCT CTCTCTGTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCT CTCTCTCTGTCTCTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCT CTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCT CTGTCTCTCTCTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCTGTCTCTCT CTCTCTGTCTCTTTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCT CTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTGTCTCTTTCTCTCTCT CTCTGTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTGTCTCTTTCTCT CTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTGTCTCTTTCTCTCT CTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTGT CTCTCTCTCTCTGTCTCTCTCTCTCTCTGTCTCTCTCTGTCTCTCTCTCT GTCTCTCTCTCTCTGTCTCTCTCTCTGTC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01496.hp1 HG00735.hp2 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0216 a0001c0001t0001g0217	2	159	0.0126	628	c.924 others(645): Show c.924-2424_924-2423insGACAGAGAGAGAGACAGAGAGAGAGAGA CAGAGAGAGAGACAGAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGAGA GACAGAGAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGA GAGAGAGAAAGAGACAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGA GAGAGAAAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGACAGA GAGAGAGAGAAAGAGACAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGA GAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAAAGAGACAGAGA GAGAGAGACAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGAGAGAGACA GAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGA GAGAGACAGAGAGAGAGACAGAGAGAGAGAGAGAGAGAGAGACAGAGAGA GAGAGAGACAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGACAGAGA GAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGA GAGACAGAGAGAGAGACAGAGAGAGACAGAGAGAGAGAGAGAGAGAGAGA	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding	7/20			chr10	TogoVar
TM4SF1_chr3_149364022_149382649	149380314	G G	GCCCCGCC others(621): Show GCCCCGCCAGCCACCCCGTCCGGGAGGGAGGTGTGGGGGTCAGCCCCCCG CCCGGCCAGCCACCCCGTCCGGGAGGGAGGCGGGGAGGTCAGCCCCCCGC CCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCC CCTACTGGCAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGGGGTCACCTCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCATCCG GGAGGTGAGGGGCGCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAGC CCCTCTGCCCGGCCAGCAGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGCC CCCCACCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTTTGGGGGTCAGCCC CCCGCCCGACCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGAGTCAGCCCC CCGCCCGGCCAGCCACCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCAGCCCCGTC CGGGAGGGAGGTGGGGGGTCAGCCCCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	178	0.0056	628	c.-27 others(639): Show c.-2768_-2767insTGGGGGGCTGACCCCCCACCTCCCTCCCGGACGG GGCTGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGC TGACTCCCCCACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCT GACCCCCAAACCTCCCTCCCAGACGGGGCGGCTGGCCGGGTGGGGGGCTG ACCCCCCACCTCCCTCCCGGACGGGGCTGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCGGAT GGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGAGGTGACCCCCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTGCCAGTAGGGGCGG CCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGG GGGCTGACCTCCCCGCCTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGG GGCTGACCCCCACACCTCCCTCCCGGACGGGGTGGCTGGCGGGG	TM4SF1	ENSG00000169908.12	transcript	ENST00000305366.8	protein_coding		2666		chr3	TogoVar
TM4SF1_chr3_149364022_149382649	149380314	G G	GCCCCGCC others(621): Show GCCCCGCCAGCCACCCCGTCCGGGAGGGAGGTGTGGGGGTCAGCCCCCCG CCCGGCCAGCCACCCCGTCCGGGAGGGAGGCGGGGAGGTCAGCCCCCCGC CCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCC CCTACTGGCAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGGGGTCACCTCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCATCCG GGAGGTGAGGGGCGCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAGC CCCTCTGCCCGGCCAGCAGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGCC CCCCACCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTTTGGGGGTCAGCCC CCCGCCCGACCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGAGTCAGCCCC CCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCAGCCCCGTC CGGGAGGGAGGTGGGGGGTCAGCCCCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00741.hp1 HG01081.hp1 others(9): Show HG00408.hp1 HG00741.hp1 HG01081.hp1 HG01433.hp1 HG01943.hp2 HG01978.hp1 HG02004.hp1 HG02055.hp1 HG02074.hp1 HG02074.hp2 HG02132.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0028 a0001c0001t0001g0032 a0001c0002t0002g0004	12	189	0.0635	628	c.-27 others(639): Show c.-2768_-2767insTGGGGGGCTGACCCCCCACCTCCCTCCCGGACGG GGCTGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACTCCCCCACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCT GACCCCCAAACCTCCCTCCCAGACGGGGCGGCTGGCCGGGTGGGGGGCTG ACCCCCCACCTCCCTCCCGGACGGGGCTGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCGGAT GGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGAGGTGACCCCCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTGCCAGTAGGGGCGG CCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGG GGGCTGACCTCCCCGCCTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGG GGCTGACCCCCACACCTCCCTCCCGGACGGGGTGGCTGGCGGGG	TM4SF1	ENSG00000169908.12	transcript	ENST00000305366.8	protein_coding		2666		chr3	TogoVar
TMC6_chr17_78102397_78133755	78115847	G G	GGGGCGAA others(621): Show GGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGAGCGAA GGGAGTGGGCACGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACA GGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAA GGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGG GCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGA GCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGG AGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCA CAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCG AAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGT GGGCACAGGGGCGAAGGGAGTGGGCACAG	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0236 a0004c0006t0001g0236	1	442	0.0023	628	c.227 others(647): Show c.2277+1421_2277+1422insCTGTGCCCACTCCCTTCGCCCCTGTG CCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCC CTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCC CTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCC ACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTT CGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTG TGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCC TTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCC TGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCGTGCCCACT CCCTTCGCTCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGC CC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMEM120B_chr12_121707752_121787068	121747713	G G	TCTGGGGT others(621): Show TCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG GCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGT AGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGG AGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGT AGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGG AGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGG GTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCG GGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTG GGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGG CGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTG GGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGG CGGGAGTCTGGGGTAGAAGGCGGGAGGCA	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0031 a0002c0002t0031	a0002c0002t0031g0091 a0002c0002t0031g0091	1	236	0.0042	628	c.189 others(640): Show c.189-613delGinsTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGG CGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTG GGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGG TGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGC TGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAG AAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAG GCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGG AGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGG AGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCA	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11			chr12	TogoVar
TRIM48_chr11_55257155_55276114	55273323	T T	TTATATAT others(621): Show TTATATATATATTATATATATAAAAATTATATATATATTATATATATATA AAAATTATATATATATTATATATATATAAAAATTATATATATATTATATA TATATAAAAATTATATATATATTATATATATATAAAAATTATATATATAT TATATATATATAAAAATTATATATATATTATATATAAAAATTATATATAT TATATATATAAAAATTATATATATATTATATATATAAAAATTATATATAT ATTATATATATATAAAAATTATATATATATTATATATATATAAAAATTAT ATATATATTATATATATATAAAAATTATATATATATTATATATATAAAAA TTATATATATATTATATATATATAAAAATTATATATATATTATATATATA TAAAAATTATATATATATTATATATATATAAAAATTATATATATATTATA TATATATAAAAATTATATATATTATATATATATAAAAATTATATATATAT TATATATATAAAAAAATTATATATATATTATATATATATAAAAATTATAT ATATATTATATATATATAAAAATTATATATATTATATATATATAAAAATT ATATATATTATATATATATAAAAATTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18944.hp2 NA18974.hp1 NA19088.hp1 NA18944.hp2 NA18974.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	3	146	0.0205	628	c.28 others(639): Show c.2888_*2889insTATATATATATTATATATATAAAAATTATATATA TATTATATATATATAAAAATTATATATATATTATATATATATAAAAATTA TATATATATTATATATATATAAAAATTATATATATATTATATATATATAA AAATTATATATATATTATATATATATAAAAATTATATATATATTATATAT AAAAATTATATATATTATATATATAAAAATTATATATATATTATATATAT AAAAATTATATATATATTATATATATATAAAAATTATATATATATTATAT ATATATAAAAATTATATATATATTATATATATATAAAAATTATATATATA TTATATATATAAAAATTATATATATATTATATATATATAAAAATTATATA TATATTATATATATATAAAAATTATATATATATTATATATATATAAAAAT TATATATATATTATATATATATAAAAATTATATATATTATATATATATAA AAATTATATATATATTATATATATAAAAAAATTATATATATATTATATAT ATATAAAAATTATATATATATTATATATATATAAAAATTATATATATTAT ATATATATAAAAATTATATATATTATATATATATAAAAATTATA	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2210		chr11	TogoVar
TRIM48_chr11_55257155_55276114	55273323	T T	TTATATAT others(621): Show TTATATATATATTATATATATAAAAATTATATATATATTATATATATATA AAAATTATATATATATTATATATATATAAAAATTATATATATATTATATA TATATAAAAATTATATATATATTATATATATATAAAAATTATATATATAT TATATATATATAAAAATTATATATATATTATATATAAAAATTATATATAT TATATATATAAAAATTATATATATATTATATATATAAAAATTATATATAT ATTATATATATATAAAAATTATATATATATTATATATATATAAAAATTAT ATATATATTATATATATATAAAAATTATATATATATTATATATATAAAAA TTATATATATATTATATATATATAAAAATTATATATATATTATATATATA TAAAAATTATATATATATTATATATATATAAAAATTATATATATATTATA TATATATAAAAATTATATATATTATATATATATAAAAATTATATATATAT TATATATATATAAAAATTATATATATATTATATATATATAAAAATTATAT ATATATTATATATATATAAAAATTATATATATTATATATATATAAAAATT ATATATATTATATATATATAAAAATTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	144	0.0069	628	c.28 others(639): Show c.2888_*2889insTATATATATATTATATATATAAAAATTATATATA TATTATATATATATAAAAATTATATATATATTATATATATATAAAAATTA TATATATATTATATATATATAAAAATTATATATATATTATATATATATAA AAATTATATATATATTATATATATATAAAAATTATATATATATTATATAT AAAAATTATATATATTATATATATAAAAATTATATATATATTATATATAT AAAAATTATATATATATTATATATATATAAAAATTATATATATATTATAT ATATATAAAAATTATATATATATTATATATATATAAAAATTATATATATA TTATATATATAAAAATTATATATATATTATATATATATAAAAATTATATA TATATTATATATATATAAAAATTATATATATATTATATATATATAAAAAT TATATATATATTATATATATATAAAAATTATATATATTATATATATATAA AAATTATATATATATTATATATATATAAAAATTATATATATATTATATAT ATATAAAAATTATATATATATTATATATATATAAAAATTATATATATTAT ATATATATAAAAATTATATATATTATATATATATAAAAATTATA	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2210		chr11	TogoVar
TRIM48_chr11_55257155_55276114	55273358	T T	TTATATAT others(621): Show TTATATATATAAAAATTATATATATATTATATATATATAAAAATTATATA TATATTATATATATATAAAAATTATATATATATTATATATATATAAAAAT TATATATATATTATATATATATAAAAATTATATATATATTATATATAAAA ATTATATATATTATATATATAAAAATTATATATATATTATATATATAAAA ATTATATATATATTATATATATATAAAAATTATATATATATTATATATAT ATAAAAATTATATATATATTATATATATATAAAAATTATATATATATTAT ATATATATAAAAATTATATATATATTATATATATATAAAAATTATATATA TATTATATATATATAAAAATTATATATATATTATATATATATAAAAATTA TATATATATTATATATATATAAAAATTATATATATATTATATATATATAA AAATTATATATATATTATATATATAAAAATTATATATATAATATATATAT AAAAATTATATATATAATATATATATAAAAATTATATATATATTATATAT ATATAAAAATTATATATATATTATATATATATAAAAATTATATATATATT GTATATATATAAAAATTATATATATATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	2	73	0.0274	628	c.29 others(639): Show c.2923_*2924insTATATATATAAAAATTATATATATATTATATATA TATAAAAATTATATATATATTATATATATATAAAAATTATATATATATTA TATATATATAAAAATTATATATATATTATATATATATAAAAATTATATAT ATATTATATATAAAAATTATATATATTATATATATAAAAATTATATATAT ATTATATATATAAAAATTATATATATATTATATATATATAAAAATTATAT ATATATTATATATATATAAAAATTATATATATATTATATATATATAAAAA TTATATATATATTATATATATATAAAAATTATATATATATTATATATATA TAAAAATTATATATATATTATATATATATAAAAATTATATATATATTATA TATATATAAAAATTATATATATATTATATATATATAAAAATTATATATAT ATTATATATATATAAAAATTATATATATATTATATATATAAAAATTATAT ATATAATATATATATAAAAATTATATATATAATATATATATAAAAATTAT ATATATATTATATATATATAAAAATTATATATATATTATATATATATAAA AATTATATATATATTGTATATATATAAAAATTATATATATATTA	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2245		chr11	TogoVar
TRIM48_chr11_55257155_55276114	55273429	T T	TTATATAT others(621): Show TTATATATATATTATATATATATAAAAATTATATATATATTATATATATA TAAAAATTATATATATATTATATATATATAAAAATTATATATATATTATA TATATATAAAAATTATATATATATTATATATATATAAAAATTATATATAT ATTATATATATATAAAAATTATATATATATTATATATATATAAAAATTAT ATATATATTATATATATATAAAAATTATATATATATTATATATATATAAA AATTATATATATATTATATATATATAAAAATTATATATATATTATATATA TATAAAAATTATATATATATTATATATATATAAAAATTATATATATATTA TATATATATAAAAATTATATATATATTATATATACATAAAAATTATATAT ATATTATATATACATAAAAATTATATATATATTATATATACATAAAAATT ATATATATATTATATATATATAAAAATTATATATATATAATATATATATA TAAAAATTATATATATATATTATATATATATAAAAATTATATATATATAT TATATATATATAAAAATTATATATATATATTATATATATATAAAAATTAT ATATATATATTATATATATATAAAAATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	115	0.0087	628	c.29 others(639): Show c.2994_*2995insTATATATATATTATATATATATAAAAATTATATA TATATTATATATATATAAAAATTATATATATATTATATATATATAAAAAT TATATATATATTATATATATATAAAAATTATATATATATTATATATATAT AAAAATTATATATATATTATATATATATAAAAATTATATATATATTATAT ATATATAAAAATTATATATATATTATATATATATAAAAATTATATATATA TTATATATATATAAAAATTATATATATATTATATATATATAAAAATTATA TATATATTATATATATATAAAAATTATATATATATTATATATATATAAAA ATTATATATATATTATATATATATAAAAATTATATATATATTATATATAC ATAAAAATTATATATATATTATATATACATAAAAATTATATATATATTAT ATATACATAAAAATTATATATATATTATATATATATAAAAATTATATATA TATAATATATATATATAAAAATTATATATATATATTATATATATATAAAA ATTATATATATATATTATATATATATAAAAATTATATATATATATTATAT ATATATAAAAATTATATATATATATTATATATATATAAAAATTA	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2316		chr11	TogoVar

Search by Variant

Search

Search Results