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
NCAPG2_chr7_158626169_158709804	158655677	T T	TTGCCCTG others(434): Show TTGCCCTGCACGCAGCACCACCCGTCCCCTCCCTGCCTCATGACCAGGCC CCGTCCTCCCCATCTGCCCTGCACGCAGCACCACCCGTCCCCTCCCTGCC TCATGACCAGGCCCCATCCTCCCCATCTGCCCTGCACGCAGCACCACCCG TCCCCTCCCTGCCTCATGACCAGGCCCCGTCCTCCCCATCTGCCCTGCAC GCAGCACCACCCGTCCCCTCCCTGCCTCATGACCAGGCCCCATCCTCCCC ATCTGCCCTGCACGCAGCACCACCCGTCCCCTCCCTGCCTCATGACCAGG CCCCATCCTCCCCATCTGCCCTGCACGCAGCACCACCCGTCCCCTCCCTG CCTCATGACCAGGCCCCGTCCTCCCCATGTGCCCTGCACGCAGCACCACC CGTCCCCTCCCTGCCTCATGACCAGGCCCCGTCCTCCCCATC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0117 a0001c0001t0002g0117	1	378	0.0027	441	c.238 others(458): Show c.2389-223_2389-222insGATGGGGAGGACGGGGCCTGGTCATGAG GCAGGGAGGGGACGGGTGGTGCTGCGTGCAGGGCACATGGGGAGGACGGG GCCTGGTCATGAGGCAGGGAGGGGACGGGTGGTGCTGCGTGCAGGGCAGA TGGGGAGGATGGGGCCTGGTCATGAGGCAGGGAGGGGACGGGTGGTGCTG CGTGCAGGGCAGATGGGGAGGATGGGGCCTGGTCATGAGGCAGGGAGGGG ACGGGTGGTGCTGCGTGCAGGGCAGATGGGGAGGACGGGGCCTGGTCATG AGGCAGGGAGGGGACGGGTGGTGCTGCGTGCAGGGCAGATGGGGAGGATG GGGCCTGGTCATGAGGCAGGGAGGGGACGGGTGGTGCTGCGTGCAGGGCA GATGGGGAGGACGGGGCCTGGTCATGAGGCAGGGAGGGGACGGGTGGTGC TGCGTGCAGGGCA	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	19/27			chr7	TogoVar
NCAPG2_chr7_158626169_158709804	158655677	T T	TTGCCCTG others(434): Show TTGCCCTGCACGCAGCACCACCCGTCCCCTCCCTGCCTCATGACCAGGCC CCGTCCTCCCCATCTGCCCTGCACGCAGCACCACCCGTCCCCTCCCTGCC TCATGACCAGGCCCCGTCCTCCCCATCTGCCCTGCACGCAGCACCACCCG TCCCCTCCCTGCCTCATGACCAGGCCCCATCCTCCCCATGTGCCCTGCAC GCAGCACCACCCGTCCCCTCCCTGCCTCATGACCAGGCCCCATCCTCCCC ATGTGCCCTGCACGCAGCACCACCCGTCCCCTCCCTGCCTCATGACCAGG CCCCATCCTCCCCATGTGCCCTGCACGCAGCACCACCCGTCCCCTCCCTG CCTCATGACCAGGCCCCATCCTCCCCATGTGCCCTGCACGCAGCACCACC CGTCCCCTCCCTGCCTCATGACCAGGCCCCATCCTCCCCATG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0352 a0001c0001t0001g0352	1	378	0.0027	441	c.238 others(458): Show c.2389-223_2389-222insCATGGGGAGGATGGGGCCTGGTCATGAG GCAGGGAGGGGACGGGTGGTGCTGCGTGCAGGGCACATGGGGAGGATGGG GCCTGGTCATGAGGCAGGGAGGGGACGGGTGGTGCTGCGTGCAGGGCACA TGGGGAGGATGGGGCCTGGTCATGAGGCAGGGAGGGGACGGGTGGTGCTG CGTGCAGGGCACATGGGGAGGATGGGGCCTGGTCATGAGGCAGGGAGGGG ACGGGTGGTGCTGCGTGCAGGGCACATGGGGAGGATGGGGCCTGGTCATG AGGCAGGGAGGGGACGGGTGGTGCTGCGTGCAGGGCAGATGGGGAGGACG GGGCCTGGTCATGAGGCAGGGAGGGGACGGGTGGTGCTGCGTGCAGGGCA GATGGGGAGGACGGGGCCTGGTCATGAGGCAGGGAGGGGACGGGTGGTGC TGCGTGCAGGGCA	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	19/27			chr7	TogoVar
NCAPG2_chr7_158626169_158709804	158655677	T T	TTGCCCTG others(434): Show TTGCCCTGCACGCAGCACCACCCGTCCCCTCCCTGCCTCATGACCAGGCC CCGTCCTCCCCATCTGCCCTGCACGCAGCACCACCCGTCCCCTCCCTGCC TCATGACCAGGCCCCGTCCTCCCCATGTGCCCTGCACGCAGCACCACCCG TCCCCTCCCTGCCTCATGACCAGGCCCCATCCTCCCCATCTGCCCTGCAC GCAGCACCACCCGTCCCCTCCCTGCCTCATGACCAGGCCCCGTCCTCCCC ATCTGCCCTGCACGCAGCACCACCCGTCCCCTCCCTGCCTCATGACCAGG CCCCGTCCTCCCCATCTGCCCTGCACGCAGCACCACCCGTCCCCTCCCTG CCTCATGACCAGGCCCCGTCCTCCCCATGTGCCCTGCACGCAGCACCACC CGTCCCCTCCCTGCCTCATGACCAGGCCCCGTCCTCCCCATG	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0363 a0001c0001t0001g0363	1	378	0.0027	441	c.238 others(458): Show c.2389-223_2389-222insCATGGGGAGGACGGGGCCTGGTCATGAG GCAGGGAGGGGACGGGTGGTGCTGCGTGCAGGGCACATGGGGAGGACGGG GCCTGGTCATGAGGCAGGGAGGGGACGGGTGGTGCTGCGTGCAGGGCAGA TGGGGAGGACGGGGCCTGGTCATGAGGCAGGGAGGGGACGGGTGGTGCTG CGTGCAGGGCAGATGGGGAGGACGGGGCCTGGTCATGAGGCAGGGAGGGG ACGGGTGGTGCTGCGTGCAGGGCAGATGGGGAGGATGGGGCCTGGTCATG AGGCAGGGAGGGGACGGGTGGTGCTGCGTGCAGGGCACATGGGGAGGACG GGGCCTGGTCATGAGGCAGGGAGGGGACGGGTGGTGCTGCGTGCAGGGCA GATGGGGAGGACGGGGCCTGGTCATGAGGCAGGGAGGGGACGGGTGGTGC TGCGTGCAGGGCA	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	19/27			chr7	TogoVar
NCAPG2_chr7_158626169_158709804	158668012	T T	TCCCTTAC others(434): Show TCCCTTACCCACAACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTC CCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCCCCCTTACCCAC TACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCACCCGC CTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCT CCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACT GGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTAC CCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCC CTCCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGG TCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTC	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0284 a0001c0001t0001g0284	1	378	0.0027	441	c.148 others(460): Show c.1480-3263_1480-3262insGAGGGCGGAGGGACCCAGTAGTGGGT AAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCA GTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGG AGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAG GCGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAG TGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGA CCCAGTAGTGGGTAAGGCGGGTGGAGGGACCCAGTAGTGGGTAAGGGAGG GCGGAGGGACCCAGTAGTGGGTAAGGGGGGGCGGAGGGACCCAGTAGTGG GTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCC AGTTGTGGGTAAGGG	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NFATC1_chr18_79390930_79534323	79532308	C C	CCGGCAGA others(434): Show CCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCCGCCCCCCGGCAGAC CCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCT CCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAG CCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCC CCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGAC CCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCT CCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAG CCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCC CCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0244 a0001c0006t0001g0244	1	322	0.0031	441	c.47 others(452): Show c.4731_*4732insCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCC CGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGG CAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCC TGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCC TGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCC CGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGG CAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCC TGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCT TGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCC CGCCCCT	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding		2986		chr18	TogoVar
NFILZ_chr19_8625633_8686151	8678091	T T	TCATCCAT others(434): Show TCATCCATCCATTCTTCCATCCACCCATCATTAGTTATCATCCATCTCCA TCACCATCATCCATCATCATCCATCCCTCCCATCCATCCATCCATCCATC CATCCATCCATCCATCCATCCTTCCATCCATTCATCCACTTGTTCATCCA TCCATCCATCCATCCATCCATCCTTCCATCCATTCATCCACTTGTCCATC CATCCATCCATCCATCCATCCATCCATCCATCCATCCATTTGTCCATCCA TCCATCCACCTATCCATCCATCCGTCCGTCTGTCCCATCCGTCCGTCCAT CCGTCCGTCCGTCCATCCATCCATCCATCCATTCTTCCATCCATCCATCC ATTCAGCCATCCATCCATCCATCCATTCCATCCATCCATCCATCCATTCT TCCATCCATCCATTCATTAGTTTATCCATCCTCACCCATCCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0015 a0015	a0015c0014 a0015c0014	a0015c0014t0165 a0015c0014t0165	a0015c0014t0165g0109 a0015c0014t0165g0109	1	366	0.0027	441	c.45 others(450): Show c.456_*457insCATCCATCCATTCTTCCATCCACCCATCATTAGTTA TCATCCATCTCCATCACCATCATCCATCATCATCCATCCCTCCCATCCAT CCATCCATCCATCCATCCATCCATCCATCCATCCTTCCATCCATTCATCC ACTTGTTCATCCATCCATCCATCCATCCATCCATCCTTCCATCCATTCAT CCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCC ATTTGTCCATCCATCCATCCACCTATCCATCCATCCGTCCGTCTGTCCCA TCCGTCCGTCCATCCGTCCGTCCGTCCATCCATCCATCCATCCATTCTTC CATCCATCCATCCATTCAGCCATCCATCCATCCATCCATTCCATCCATCC ATCCATCCATTCTTCCATCCATCCATTCATTAGTTTATCCATCCTCACCC ATCCA	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	6/6	457		chr19	TogoVar
NFILZ_chr19_8625633_8686151	8678091	T T	TTCCATCC others(434): Show TTCCATCCATCCATCCATTCTTCCATCCACCCATTCATTAGTTTATCCAT CCTCACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCAT TCATCCACTTGTCCATCCATCCATCCATCCATCCTTCCATCCATTCATCC ACTTGTTCATCCATCCATCCATCCATCCATCCATCCATCCTTCCATCCAT TCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCATTTGTCCATCCATCCATCCACCTATCCATCCATCCGTCCGTCTGT CCCATCCATCCGTCCATCCGTCCGTCCGTCCATCCATCCATCCATCCATT CTTCCATCCATCCATCCATTCAGCCATCCATCCATCCATCCATCCATTCT TCCATCCATCCATTCATTAGTTTATCCATCCTCATCCATCCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0014 a0014	a0014c0015 a0014c0015	a0014c0015t0055 a0014c0015t0055	a0014c0015t0055g0097 a0014c0015t0055g0097	1	366	0.0027	441	c.47 others(450): Show c.473_*474insTCTTCCATCCACCCATTCATTAGTTTATCCATCCTC ACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCATTCAT CCACTTGTCCATCCATCCATCCATCCATCCTTCCATCCATTCATCCACTT GTTCATCCATCCATCCATCCATCCATCCATCCATCCTTCCATCCATTCAT CCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCC ATTTGTCCATCCATCCATCCACCTATCCATCCATCCGTCCGTCTGTCCCA TCCATCCGTCCATCCGTCCGTCCGTCCATCCATCCATCCATCCATTCTTC CATCCATCCATCCATTCAGCCATCCATCCATCCATCCATCCATTCTTCCA TCCATCCATTCATTAGTTTATCCATCCTCATCCATCCATCCATCCATCCA TCCAT	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	6/6	474	INFO_REALIGN_3_PRIME	chr19	TogoVar
NRDE2_chr14_90262860_90336941	90300868	A A	AGGAGGGG others(434): Show AGGAGGGGAGGGGAGGGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGGAGG GGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGG GGAGGGGAGGGGGAGGGGTGGGGGAGGGAGAGGGGAAAGGGAGAGGGGAA AGGAGGGGATGGGGGAGGGAGAAGGGAGGGGGAGGGGGAGGGGGAGGGGA GGGGGAGGGGAGGGGGAGGGGGAAGGGAGGGGGAGGGGAAAGGGGGAAGG GAGAAGGGGGAGGGGGGAGGGGAAGGGGAGGAAGAGGGGAGGGGAGGAGG AAGGGGGAGGGGGAGGGGAAAGGAGGAGGAAGGGGAGGGGGAAGGGGAGG GAGGGGAGGAGGGGGAAGGGAGGGGAGGAGGGGGAAGGGAGGGGAGGGGA GGAGGGGGGAGGGAGAGGGGAGGGGAGGAAGCAGGGGAAGGG	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0107 a0001c0001t0003g0107	1	344	0.0029	441	c.154 others(458): Show c.1545+370_1545+371insCCCTTCCCCTGCTTCCTCCCCTCCCCTC TCCCTCCCCCCTCCTCCCCTCCCCTCCCTTCCCCCTCCTCCCCTCCCTTC CCCCTCCTCCCCTCCCTCCCCTTCCCCCTCCCCTTCCTCCTCCTTTCCCC TCCCCCTCCCCCTTCCTCCTCCCCTCCCCTCTTCCTCCCCTTCCCCTCCC CCCTCCCCCTTCTCCCTTCCCCCTTTCCCCTCCCCCTCCCTTCCCCCTCC CCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCTTCTCCCTC CCCCATCCCCTCCTTTCCCCTCTCCCTTTCCCCTCTCCCTCCCCCACCCC TCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCTCCCCTCCCCCTCCCTCCCCCTCCCCTCCTCCCCTCCTCCCCCCC TCCCCTCCCCTCC	NRDE2	ENSG00000119720.18	transcript	ENST00000354366.8	protein_coding	7/13			chr14	TogoVar
NT5C1A_chr1_39646229_39677107	39664492	T T	TCTCCTCC others(434): Show TCTCCTCCCCCTCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCC CTCCTCTCCCCTCCCCTCCCCTCCCCTCCCCTCCTCTCCCCTCCCCTCCC ACCCTCCCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCCTTCCCCTTCCC CCTCCCCTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCC CCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTT CCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCC TTCCCTCTCCCCTTCCCCTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCC CCCTTCCCCTCCCCCTTCCCCTTCCCTCTCCCCTTCCCCTCC	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0249 a0001c0001t0002g0249	1	326	0.0031	441	c.433 others(458): Show c.433+1028_433+1029insGGAGGGGAAGGGGAGAGGGAAGGGGAAG GGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAGGGG AAGGGGAGAGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAG GGGAGGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGA GGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGGG AAGGGGAGGGGAGGGGGAAGGGGAAGGGGGAGGGGAGGGGAGGGGAAGGG GGAGGGGGGAGGGTGGGAGGGGAGGGGAGAGGAGGGGAGGGGAGGGGAGG GGAGGGGAGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGAGGGGGAGGAG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NT5DC3_chr12_103767310_103846234	103768598	G G	GGGGAGGG others(434): Show GGGGAGGGGGGAGGGAGAGGACAGGGACAGGGAGAGGGAGAGGGAGAGAG AGGGAGGGAGAGGGGGAGGGAGAGGGAGAGGGACAGGGAGAGGGAGGGAG AGAGGGAGAGGGAGGGGAGGGGGGAGAGGGAGGGGAGGGGGAGAGGGGGG AGAGAGAGGGAGGGGGTGGGAGGGGAGGGAGGGAGAGGGACAGGGAGAGG GAGGGAGAGGGAGAGAAGGAGGGAGAGGGAGGGAGAGGGAGAGGGAGGGA GAGGGAGGGAGAGGGAGAGGGAGGGAGGGGGGAGGGAGAGAGATGGGGGA GGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGA CAGGGGGAGGGAGAAGGAGAGGGAGAGGGGGAGGGAGAGGGGGAGAGAGG GAGAGGGAGAGAGAGGGAAAGGGAGTGAGAGAGAGAGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0338 a0001c0002t0001g0338	1	386	0.0026	441	c.92 others(452): Show c.9230_*9231insTCTCCCTCTCTCTCTCACTCCCTTTCCCTCTCTC TCCCTCTCCCTCTCTCCCCCTCTCCCTCCCCCTCTCCCTCTCCTTCTCCC TCCCCCTGTCCCTCTCCCTCCCCCATCCCTCTCCCTCCCCCATCCCTCTC CCTCCCCCTCCCCCATCTCTCTCCCTCCCCCCTCCCTCCCTCTCCCTCTC CCTCCCTCTCCCTCCCTCTCCCTCTCCCTCCCTCTCCCTCCTTCTCTCCC TCTCCCTCCCTCTCCCTGTCCCTCTCCCTCCCTCCCCTCCCACCCCCTCC CTCTCTCTCCCCCCTCTCCCCCTCCCCTCCCTCTCCCCCCTCCCCTCCCT CTCCCTCTCTCCCTCCCTCTCCCTGTCCCTCTCCCTCTCCCTCCCCCTCT CCCTCCCTCTCTCTCCCTCTCCCTCTCCCTGTCCCTGTCCTCTCCCTCCC CCCTCCC	NT5DC3	ENSG00000111696.12	transcript	ENST00000392876.8	protein_coding		3711		chr12	TogoVar
NT5DC3_chr12_103767310_103846234	103768598	G G	GGGGAGGG others(434): Show GGGGAGGGGGGAGGGAGAGGGACAGGGACAGGGAGAGGGAGAGGGAGAGA GAGGGAGGGAGAGGGGGAGGGAGAGGGAGAGGGACAGGGAGAGGGAGGGA GAGAGGGAGAGGGAGGGGAGGGGGGAGAGGGAGGGGAGGGGGAGAGGGGG AGAGAGAGGGAGGGGGTGGGAGGGGAGGGAGGGAGAGGGACAGGGAGAGG GAGGGAGAGGGAGAGAAGGAGGGAGAGGGAGGGAGAGGGAGAGGGAGGGA GAGGGAGGGAGAGGGAGAGGGAGGGAGGGGGGAGGGAGAGAGATGGGGGA GGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGA CAGGGGGAGGGAGAAGGAGAGGGAGAGGGGGAGGGAGAGGGGGAGAGAGG GAGAGGGAGAGAGAGGGAAAGGGAGTGAGAGAGAGAGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0048 a0001c0002t0048	a0001c0002t0048g0063 a0001c0002t0048g0063	1	386	0.0026	441	c.92 others(452): Show c.9230_*9231insTCTCCCTCTCTCTCTCACTCCCTTTCCCTCTCTC TCCCTCTCCCTCTCTCCCCCTCTCCCTCCCCCTCTCCCTCTCCTTCTCCC TCCCCCTGTCCCTCTCCCTCCCCCATCCCTCTCCCTCCCCCATCCCTCTC CCTCCCCCTCCCCCATCTCTCTCCCTCCCCCCTCCCTCCCTCTCCCTCTC CCTCCCTCTCCCTCCCTCTCCCTCTCCCTCCCTCTCCCTCCTTCTCTCCC TCTCCCTCCCTCTCCCTGTCCCTCTCCCTCCCTCCCCTCCCACCCCCTCC CTCTCTCTCCCCCTCTCCCCCTCCCCTCCCTCTCCCCCCTCCCCTCCCTC TCCCTCTCTCCCTCCCTCTCCCTGTCCCTCTCCCTCTCCCTCCCCCTCTC CCTCCCTCTCTCTCCCTCTCCCTCTCCCTGTCCCTGTCCCTCTCCCTCCC CCCTCCC	NT5DC3	ENSG00000111696.12	transcript	ENST00000392876.8	protein_coding		3711		chr12	TogoVar
NT5DC3_chr12_103767310_103846234	103768598	G G	GGGGAGGG others(434): Show GGGGAGGGGGGAGGGAGAGGGACAGGGACAGGGAGAGGGAGAGGGAGAGA GAGGGAGGGAGAGGGGGAGGGAGAGGGAGAGGGACAGGGAGAGGGAGGGA GAGAGGGAGAGGGAGGGGAGGGGGGAGAGGGAGGGGAGGGGGAGAGGGGG GAGAGAGAGGGAGGGGGTGGGAGGGGAGGGAGGGAGAGGGACAGGGAGAG GGAGGGAGAGGGAGAGAAGGAGGGAGAGGGAGGGAGAGGGAGAGGGAGGG AGAGGGAGGGAGAGGGAGAGGGAGGGAGGGGGGAGGGAGAGAGATGGGGG AGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGG ACAGGGGGAGGGAGAAGGAGAGGGAGAGGGGGAGGGAGAGGGGGAGAGAG GAGAGGGAGAGAGAGGGAAAGGGAGTGAGAGAGAGAGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0198 a0001c0002t0001g0198	1	386	0.0026	441	c.92 others(452): Show c.9230_*9231insTCTCCCTCTCTCTCTCACTCCCTTTCCCTCTCTC TCCCTCTCCTCTCTCCCCCTCTCCCTCCCCCTCTCCCTCTCCTTCTCCCT CCCCCTGTCCCTCTCCCTCCCCCATCCCTCTCCCTCCCCCATCCCTCTCC CTCCCCCTCCCCCATCTCTCTCCCTCCCCCCTCCCTCCCTCTCCCTCTCC CTCCCTCTCCCTCCCTCTCCCTCTCCCTCCCTCTCCCTCCTTCTCTCCCT CTCCCTCCCTCTCCCTGTCCCTCTCCCTCCCTCCCCTCCCACCCCCTCCC TCTCTCTCCCCCCTCTCCCCCTCCCCTCCCTCTCCCCCCTCCCCTCCCTC TCCCTCTCTCCCTCCCTCTCCCTGTCCCTCTCCCTCTCCCTCCCCCTCTC CCTCCCTCTCTCTCCCTCTCCCTCTCCCTGTCCCTGTCCCTCTCCCTCCC CCCTCCC	NT5DC3	ENSG00000111696.12	transcript	ENST00000392876.8	protein_coding		3711		chr12	TogoVar
PAK2_chr3_196734857_196837647	196811213	T T	TTCCTTCC others(434): Show TTCCTTCCCTTCCCTACCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCT TCCCTCCCTTCCTTCCCTCCCTTCCTTCCTTCCCTCCCTTCCTTCCCTCC CTTCCTTCCCTTCCTTCCTTCCTTCCCTCCCTTCCTTCCCTTCCTTCCTT CCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCC TTCCTTCCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTTCCTTCCCTCC CTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCC TCCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTT CCTTCCCTTCCCTCCCTCCCCTCCCTTCCTTCCCTTCCCTCCCTTCCTTC CCTCCCTTCCTTCCCTCCCTCCCCTCCCTTCCCTCCCTCCCC	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0036 a0001c0001t0004g0036	1	178	0.0056	441	c.773 others(456): Show c.773+563_773+564insTTCCCTTCCCTACCCTCCCTTCCCTCCCTT CCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCTTCCC TCCCTTCCTTCCCTCCCTTCCTTCCCTTCCTTCCTTCCTTCCCTCCCTTC CTTCCCTTCCTTCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCT CCCTTCCTTCCCTCCCTTCCTTCCCTTCCTTCCTTCCTTCCTTCCTTCCC TCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTC CCTTCCCTCCCTCCCCTCCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTCC CTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCCTCCCTTCCTTCCC TTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTCCCCTCCCTTCCCT CCCTCCCCTCC	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PARP10_chr8_143972158_143991460	143981916	T T	TGGTGGTG others(434): Show TGGTGGTGACGACAGTGAGTGGTGAAGGTGATGGTGATGGTGGTGATGAC AGTGAGTGGTGAGGGTCATGGTGATGGTGATGATGATGAGTGGGGATGAT GGTGGTGATGGTGACTGTTGTGATGGTGATTGTTGTGATGGTGATGGTGG TGATGACAGTGAGTGGTGAGGGTCATGGTGATGGTGATGGTGATGATGAT GAGTGGGGATGATTATGGTGATGGTGGTGGTGATGGTGACTGTTGTAATG GTGATGGTGGTGATGGTGATGATGGTGGTGACGACAGTGAGTGGTGAAGG TGATGGTGATGGTGGTGATGACAGTGAGTGGTGAGGGTCATGGTGATGGT GATGATGATGAGTGGGGATGGTGGTGATGGTGACTGTTGTGATGGTGATG GTGGTGATGGTGATGGTGGTGGTGACGACAGTGAGTGGTGAA	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18982.hp2 NA19000.hp1 others(1): Show NA18962.hp2 NA18982.hp2 NA19000.hp1 NA19088.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0029 a0002c0002t0002g0226 a0002c0002t0002g0227 others(1): Show a0002c0002t0002g0029 a0002c0002t0002g0226 a0002c0002t0002g0227 a0002c0002t0002g0228	4	380	0.0105	441	c.255 others(460): Show c.2556+1015_2556+1016insTTCACCACTCACTGTCGTCACCACCA CCATCACCATCACCACCATCACCATCACAACAGTCACCATCACCACCATC CCCACTCATCATCATCACCATCACCATGACCCTCACCACTCACTGTCATC ACCACCATCACCATCACCTTCACCACTCACTGTCGTCACCACCATCATCA CCATCACCACCATCACCATTACAACAGTCACCATCACCACCACCATCACC ATAATCATCCCCACTCATCATCATCACCATCACCATCACCATGACCCTCA CCACTCACTGTCATCACCACCATCACCATCACAACAATCACCATCACAAC AGTCACCATCACCACCATCATCCCCACTCATCATCATCACCATCACCATG ACCCTCACCACTCACTGTCATCACCACCATCACCATCACCTTCACCACTC ACTGTCGTCACCACC	PARP10	ENSG00000178685.14	transcript	ENST00000313028.12	protein_coding	9/10			chr8	TogoVar
PASK_chr2_241101099_241154472	241116173	C C	CCGGTCCC others(434): Show CCGGTCCCCAAGCATCCCATTACACCAGGGCCACCCGGTCCTCAAGCATC CCATTACACCAGGGCCACCCGGTCCCCAAGCATCCCATTACACCAGGGCC ACCCGGTCCCCAAGCATCCCATTACACCAGGGGCCACCGGTCCCCAAGCA TCCCATTACACCAGGGGCCACCGGTCCCCAAGCATCCCATTACACCAGGG GCCACCGGTCCCCAAGCATCCCATTACACCAGGGGCCACCGGTCCCCAAG CATCCCATTACACCAGGGGCCACCGGTCCTCAAGCATCCCATTACACCGG GGCCACCGGTCCTCAAGCATCCCATTACACCAGGGGCCACCGGTCCCCAA GCATCCCATTACGCCAGGGACACCTGGTCCCCAAGCATCCCGTTACACCA GGGCCACCCAGTCCCCAAGCATCCCATTACACCAGGGCCACA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0008 a0008	a0008c0059 a0008c0059	a0008c0059t0014 a0008c0059t0014	a0008c0059t0014g0039 a0008c0059t0014g0039	1	376	0.0027	441	c.307 others(458): Show c.3073-761_3073-760insTGTGGCCCTGGTGTAATGGGATGCTTGG GGACTGGGTGGCCCTGGTGTAACGGGATGCTTGGGGACCAGGTGTCCCTG GCGTAATGGGATGCTTGGGGACCGGTGGCCCCTGGTGTAATGGGATGCTT GAGGACCGGTGGCCCCGGTGTAATGGGATGCTTGAGGACCGGTGGCCCCT GGTGTAATGGGATGCTTGGGGACCGGTGGCCCCTGGTGTAATGGGATGCT TGGGGACCGGTGGCCCCTGGTGTAATGGGATGCTTGGGGACCGGTGGCCC CTGGTGTAATGGGATGCTTGGGGACCGGTGGCCCCTGGTGTAATGGGATG CTTGGGGACCGGGTGGCCCTGGTGTAATGGGATGCTTGGGGACCGGGTGG CCCTGGTGTAATGGGATGCTTGAGGACCGGGTGGCCCTGGTGTAATGGGA TGCTTGGGGACCG	PASK	ENSG00000115687.14	transcript	ENST00000234040.9	protein_coding	12/17			chr2	TogoVar
PASK_chr2_241101099_241154472	241116173	C C	CCGGTCCC others(434): Show CCGGTCCCCAAGCATCCCATTACACCAGGGCCACCCGGTCCTCAAGCATC CCATTACACCAGGGCCACCCGGTCCTCAAGCATCCCATTACACCAGGGCC ACCCGGTCCCCAAGCATCCCATTACACCAGGGGCCACCGGTCCCCAAGCA TCCCATTACACCAGGGGCCACCGGTCCCCAAGCATCCCATTACACCAGGG GCCACCGGTCCCCAAGCATCCCATTACACCAGGGGCCACCGGTCCCCAAG CATCCCATTACACCAGGGGCCACCGGTCCTCAAGCATCCCATTACACCGG GGCCACCGGTCCTCAAGCATCCCATTACACCAGGGGCCACCGGTCCCCAA GCATCCCATTACGCCAGGGACACCTGGTCCCCAAGCATCCCGTTACACCA GGGCCACCCAGTCCCCAAGCATCCCATTACACCAGGGCCACA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0008 a0008	a0008c0016 a0008c0016	a0008c0016t0001 a0008c0016t0001	a0008c0016t0001g0145 a0008c0016t0001g0145	1	376	0.0027	441	c.307 others(458): Show c.3073-761_3073-760insTGTGGCCCTGGTGTAATGGGATGCTTGG GGACTGGGTGGCCCTGGTGTAACGGGATGCTTGGGGACCAGGTGTCCCTG GCGTAATGGGATGCTTGGGGACCGGTGGCCCCTGGTGTAATGGGATGCTT GAGGACCGGTGGCCCCGGTGTAATGGGATGCTTGAGGACCGGTGGCCCCT GGTGTAATGGGATGCTTGGGGACCGGTGGCCCCTGGTGTAATGGGATGCT TGGGGACCGGTGGCCCCTGGTGTAATGGGATGCTTGGGGACCGGTGGCCC CTGGTGTAATGGGATGCTTGGGGACCGGTGGCCCCTGGTGTAATGGGATG CTTGGGGACCGGGTGGCCCTGGTGTAATGGGATGCTTGAGGACCGGGTGG CCCTGGTGTAATGGGATGCTTGAGGACCGGGTGGCCCTGGTGTAATGGGA TGCTTGGGGACCG	PASK	ENSG00000115687.14	transcript	ENST00000234040.9	protein_coding	12/17			chr2	TogoVar
PDCD6_chr5_266646_319974	318187	A A	ACCCTGCA others(434): Show ACCCTGCACCTCCCCCATCCTTCACCTCCCCTCTCACCCTCCACCTCCCC CACTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCAC CTCCCGCCCTCACCCTGCACCTCCCCCCCTCACCCTGCACCTCCCCCAAT CCTTTACCTCCCCCCACCCTCCATCTGCCCCAACCCTGCACCTCCCCCAT CCTTCACCTCCCCTCTCACCCTCCACCTCCCCACTCACCCTCCACCTCCC CCCCACCCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCA CCTCCCCCCATCCTTTACCTCCCCCCCACCCTCCATCTGCCCCCAAACCC TGCACCTCCCCCAATCCTTCACCTCCCCCCTCCCTTCATCTCCTCCCCCC TCACCCTCCACCTCCCCCCCGCACCCTGCACCTCCCACCCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0221 a0001c0001t0006g0221	1	360	0.0028	441	c.36 others(452): Show c.3672_*3673insCCCTGCACCTCCCCCATCCTTCACCTCCCCTCTC ACCCTCCACCTCCCCCACTCACCCTCCACCTCCCCCCCACCCTGCACCTC CCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCCTCACCC TGCACCTCCCCCAATCCTTTACCTCCCCCCACCCTCCATCTGCCCCAACC CTGCACCTCCCCCATCCTTCACCTCCCCTCTCACCCTCCACCTCCCCACT CACCCTCCACCTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCACCTCC CGCCCTCACCCTGCACCTCCCCCCATCCTTTACCTCCCCCCCACCCTCCA TCTGCCCCCAAACCCTGCACCTCCCCCAATCCTTCACCTCCCCCCTCCCT TCATCTCCTCCCCCCTCACCCTCCACCTCCCCCCCGCACCCTGCACCTCC CACCCTT	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3214		chr5	TogoVar
PDXK_chr21_43714129_43767299	43741292	G G	GGGGGGGC others(434): Show GGGGGGGCTCGCAGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGG GGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCAGGGGGGC TCGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGGCTCGCG GGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGC TCGCGGGGGGCTGGCGGGGGGCTGGCGGGGGGGCTCGCGGGGGGGCTCGC GGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGG GGCTGGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTC GCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTGGCGG GGGGCTGGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTGGC	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0249 a0001c0002t0003g0249	1	358	0.0028	441	c.143 others(456): Show c.143-364_143-363insAGGGGGGCTCGCGGGGGGCTCGCGGGGGGG CTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGC AGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGG GGCTCGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTCG CGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTGGCGGGGGGGCTCGCGGGG GGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGC TCGCGGGGGGCTGGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTCGCGG GGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGG GCTGGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTGGC GGGGGGCTCGC	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PGAP6_chr16_365788_386978	370390	G G	GCTACCCC others(434): Show GCTACCCCTGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCAC CTCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTC TCACCCCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGC TCTCACCCGCTACCCCTGCCCCCGGCTCTCACCCGCTACCCCTGCCCCCG GCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCC GGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCC CGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCC CCCGGCTCTCACCCGCTACCCCGGCCCCCGGGCTCTCACTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00609.hp1 HG02015.hp2 others(6): Show HG00423.hp2 HG00609.hp1 HG02015.hp2 HG02083.hp1 HG02155.hp2 NA18747.hp1 NA19009.hp1 NA19010.hp2 NA19065.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0008 a0001c0001t0002 a0002c0002t0008	a0001c0001t0002g0001 a0001c0001t0002g0031 a0001c0001t0002g0074 others(2): Show a0001c0001t0002g0001 a0001c0001t0002g0031 a0001c0001t0002g0074 a0001c0001t0002g0105 a0002c0002t0008g0120	9	376	0.0239	441	c.15 others(452): Show c.1596_*1597insGGAGTGAGAGCCCGGGGGCCGGGGTAGCGGGTGA GAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGT GAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGG TGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGG GTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGC GGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTA GGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGG TAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGG GGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCA GGGGTAG	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding		397		chr16	TogoVar
PLCXD1_chrX_276381_308356	298499	C C	CCACATGG others(434): Show CCACATGGGGATTAGGACGTGGACATCTTTGGGGCCATTATTCTGTCTAT CACATGGGGATTAGGACGTGGACATCTTTGGGGCCATTATTCTGTCTATC ACATTGGGATTAGGACGTGGACATCTTTGGGGCCATTATCCTGTCTATCA CATGGGGATTAGGACGTGGACATCTTTGGGGCCATTATCCTGTCTATCAC ATGGGGATTAGGACGTGGACATCTTTGGGGACATTATTCTGTCTATCACA TGGGGATTAGGACGTGGACATCTTTGGGGACATTATCCTGTCTATCACAT GGGGATTAGGACGTGGACATCTTTGGGGACATTATCCTGTCTATCACATG GGGATTAGGACGTGGACATCTTTGGGGCCATTATCCTGTCTATCACATGG GGATTAGGACGTGGACATCTTTGGGGCCATTATCCTGTCTAT	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0068 a0001c0001t0052g0068	1	176	0.0057	441	c.734 others(456): Show c.734-565_734-564insCCATTATTCTGTCTATCACATGGGGATTAG GACGTGGACATCTTTGGGGCCATTATTCTGTCTATCACATTGGGATTAGG ACGTGGACATCTTTGGGGCCATTATCCTGTCTATCACATGGGGATTAGGA CGTGGACATCTTTGGGGCCATTATCCTGTCTATCACATGGGGATTAGGAC GTGGACATCTTTGGGGACATTATTCTGTCTATCACATGGGGATTAGGACG TGGACATCTTTGGGGACATTATCCTGTCTATCACATGGGGATTAGGACGT GGACATCTTTGGGGACATTATCCTGTCTATCACATGGGGATTAGGACGTG GACATCTTTGGGGCCATTATCCTGTCTATCACATGGGGATTAGGACGTGG ACATCTTTGGGGCCATTATCCTGTCTATCACATGGGGATTAGGACGTGGA CATCTTTGGGG	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
PLEKHG4B_chr5_87168_194966	92369	G G	GGGCGCCG others(434): Show GGGCGCCGGGGTAGGGGCGGGGTGGGGGCGCCGGGGTAGGGGCGGGGTGG GGGCGCGGGGGTAGGGGCGGGGTGGGGGCGCCGGGGTAGGGGCGGGGTGG GGGCGCGGGGGTAGGGGCGGGTGGGGGCGCCGGGGTAGGGGCGGGTGGGG GCGCCGGGGTAGGGGCGGGGTGGGGGCGCGGGGGTAGGGGCGGGGTGGGG GCGCGGGGGTAGGGGCGGGGTGGGGGCGCCGGAGTAGGGGCGGGGTGGGG GCGCCGGAGTAGGGGCGGGTGGGGGCGCCGGGGTAGGGGCGGGTGGGGGG CGCGGGGGTAGGGGTGGGGTGGGGGCGCCGGAGTAGGGGCGGGTGGGGGC GCGGGGGTAGGGGTGGGGTGGGGGCGCCGGAGTAGGGGCGGGTGGGGGCG CCGGGGTAGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGT	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0003 a0002c0005t0003	a0002c0005t0003g0167 a0002c0005t0003g0167	1	210	0.0048	441	c.45+ others(452): Show c.45+95_45+96insCGCCGGGGTAGGGGCGGGGTGGGGGCGCCGGGGT AGGGGCGGGGTGGGGGCGCGGGGGTAGGGGCGGGGTGGGGGCGCCGGGGT AGGGGCGGGGTGGGGGCGCGGGGGTAGGGGCGGGTGGGGGCGCCGGGGTA GGGGCGGGTGGGGGCGCCGGGGTAGGGGCGGGGTGGGGGCGCGGGGGTAG GGGCGGGGTGGGGGCGCGGGGGTAGGGGCGGGGTGGGGGCGCCGGAGTAG GGGCGGGGTGGGGGCGCCGGAGTAGGGGCGGGTGGGGGCGCCGGGGTAGG GGCGGGTGGGGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGCCGGAGTAGG GGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGCCGGAGTAGGG GCGGGTGGGGGCGCCGGGGTAGGGGCGGGTGGGGGCGCGGGGGTAGGGGT GGGGTGG	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PRKCZ_chr1_2045411_2190395	2124192	T T	TGTAGTTA others(434): Show TGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCA TGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGG GTCGTGGTGGTTAGGGTCATGGTGGTAGTTAGGATCACGGCTGTAGTTAG GGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAG TTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGATCATGGCT GTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCAT GGTGGTAGTTAGGGTCGTGGTGGTTAGGGTCATGGTGGTAGTTAGGATCA CGGCTGTAGTTAGGGTCAAGGTGGTAGTTAGGATCATGGCTGTAGTTAGG GTCATGGTGGTAGTTAGGGTCGTGGTGGTTAGGGTCATGGTG	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	286	0.0035	441	c.335 others(460): Show c.335-11057_335-11056insTGGTGGTAGTTAGGATCATGGCTGTA GTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGT GGTAGTTAGGGTCGTGGTGGTTAGGGTCATGGTGGTAGTTAGGATCACGG CTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTC ATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAG GATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAG TTAGGGTCATGGTGGTAGTTAGGGTCGTGGTGGTTAGGGTCATGGTGGTA GTTAGGATCACGGCTGTAGTTAGGGTCAAGGTGGTAGTTAGGATCATGGC TGTAGTTAGGGTCATGGTGGTAGTTAGGGTCGTGGTGGTTAGGGTCATGG TGGTAGTTAGGGTCA	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
RAD21L1_chr20_1221044_1260876	1258613	C C	CAAACACA others(434): Show CAAACACATAAAGCTCTGTTTCCTTCTAGGTAACTGATTTGAGATCTTCC CTCTTTTATAATATAAACACATAAAGCTCTGTTTCCTTCTAGGTAACTGA TTTGGGATCTTCCCTCTTTTCTAATATAAACACATAAAGCTCTGTTTCCT TCTAGGTAACTGATTTGAGATCTTCCCTCTTTTCTAATATAAACACATAA AGCTCTGTTTCCTTCTAGGTAACTGGTTTGGGATCTTCCCTCTTTTCTAA TACAAACACATAAAGCTCTGTTTCCTTCTAGGTAACTGATTTGGGATCTT CCCTCTTTTCTAATACAAACACATAAAGCTCTGTTTCCTTCTAGGTAACT GATTTGGGATCTTCCCTCTTTTCTAATATAAACACATAAAGCTCTGTTTC CTTCTAGGTAACTGGTTTGAGATCTTCCCTCTTTTCTAATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(169): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01169.hp1 HG01175.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01517.hp2 HG01943.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp2 HG02155.hp1 HG02273.hp2 HG02300.hp2 HG02523.hp1 HG02523.hp2 HG02602.hp2 HG02735.hp1 HG02738.hp2 HG02965.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03492.hp2 HG03579.hp2 HG03688.hp2 HG03710.hp2 HG03834.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp2 HG04199.hp2 HG04228.hp2 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18949.hp2 NA18952.hp1 NA18954.hp1 NA18955.hp1 NA18957.hp1 NA18957.hp2 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18968.hp2 NA18969.hp1 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18979.hp1 NA18982.hp1 NA18983.hp1 NA18985.hp2 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19001.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19043.hp2 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp2 NA19062.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19074.hp1 NA19075.hp1 NA19075.hp2 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19084.hp1 NA19088.hp1 NA19088.hp2 NA20905.hp2	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0001 a0001c0008 a0004c0005 others(2): Show a0001c0001 a0001c0008 a0004c0005 a0004c0011 a0006c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0008t0001 a0004c0005t0001 a0004c0005t0003 a0004c0011t0001 a0006c0007t0001 a0006c0007t0003	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(65): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0035 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0144 a0001c0001t0001g0153 a0001c0001t0003g0003 a0001c0001t0003g0006 a0001c0001t0003g0015 a0001c0001t0003g0025 a0001c0001t0003g0042 a0001c0001t0003g0044 a0001c0001t0003g0046 a0001c0001t0003g0082 a0001c0001t0003g0131 a0001c0001t0003g0132 a0001c0001t0003g0133 a0001c0001t0003g0170 a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0008g0010 a0001c0001t0009g0119 a0001c0001t0010g0116 a0001c0008t0001g0021 a0004c0005t0001g0003 a0004c0005t0001g0012 a0004c0005t0001g0121 a0004c0005t0001g0124 a0004c0005t0003g0012 a0004c0005t0003g0149 a0004c0011t0001g0012 a0006c0007t0001g0036 a0006c0007t0003g0167	172	364	0.4725	441	c.41 others(452): Show c.4156_*4157insAAACACATAAAGCTCTGTTTCCTTCTAGGTAACT GATTTGAGATCTTCCCTCTTTTATAATATAAACACATAAAGCTCTGTTTC CTTCTAGGTAACTGATTTGGGATCTTCCCTCTTTTCTAATATAAACACAT AAAGCTCTGTTTCCTTCTAGGTAACTGATTTGAGATCTTCCCTCTTTTCT AATATAAACACATAAAGCTCTGTTTCCTTCTAGGTAACTGGTTTGGGATC TTCCCTCTTTTCTAATACAAACACATAAAGCTCTGTTTCCTTCTAGGTAA CTGATTTGGGATCTTCCCTCTTTTCTAATACAAACACATAAAGCTCTGTT TCCTTCTAGGTAACTGATTTGGGATCTTCCCTCTTTTCTAATATAAACAC ATAAAGCTCTGTTTCCTTCTAGGTAACTGGTTTGAGATCTTCCCTCTTTT CTAATAT	RAD21L1	ENSG00000244588.6	transcript	ENST00000683101.1	protein_coding		2738		chr20	TogoVar
RAD21L1_chr20_1221044_1260876	1258613	C C	CAAACACA others(434): Show CAAACACATAAAGCTCTGTTTCCTTCTAGGTAACTGATTTGAGATCTTCC CTCTTTTATAATATAAACACATAAAGCTCTGTTTCCTTCTAGGTAACTGA TTTGGGATCTTCCCTCTTTTCTAATATAAACACATAAAGCTCTGTTTCCT TCTAGGTAACTGATTTGAGATCTTCCCTCTTTTCTAATATAAACACATAA AGCTCTGTTTCCTTCTAGTTAACTGGTTTGGGATCTTCCCTCTTTTCTAA TACAAACACATAAAGCTCTGTTTCCTTCTAGGTAACTGATTTGGGATCTT CCCTCTTTTCTAATACAAACACATAAAGCTCTGTTTCCTTCTAGGTAACT GATTTGGGATCTTCCCTCTTTTCTAATATAAACACATAAAGCTCTGTTTC CTTCTAGGTAACTGGTTTGAGATCTTCCCTCTTTTCTAATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp1 HG02698.hp1 NA20805.hp2 HG01168.hp1 HG02698.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0150 a0001c0001t0001g0045 a0001c0001t0001g0150	3	364	0.0082	441	c.41 others(452): Show c.4156_*4157insAAACACATAAAGCTCTGTTTCCTTCTAGGTAACT GATTTGAGATCTTCCCTCTTTTATAATATAAACACATAAAGCTCTGTTTC CTTCTAGGTAACTGATTTGGGATCTTCCCTCTTTTCTAATATAAACACAT AAAGCTCTGTTTCCTTCTAGGTAACTGATTTGAGATCTTCCCTCTTTTCT AATATAAACACATAAAGCTCTGTTTCCTTCTAGTTAACTGGTTTGGGATC TTCCCTCTTTTCTAATACAAACACATAAAGCTCTGTTTCCTTCTAGGTAA CTGATTTGGGATCTTCCCTCTTTTCTAATACAAACACATAAAGCTCTGTT TCCTTCTAGGTAACTGATTTGGGATCTTCCCTCTTTTCTAATATAAACAC ATAAAGCTCTGTTTCCTTCTAGGTAACTGGTTTGAGATCTTCCCTCTTTT CTAATAT	RAD21L1	ENSG00000244588.6	transcript	ENST00000683101.1	protein_coding		2738		chr20	TogoVar
RAD21L1_chr20_1221044_1260876	1258613	C C	CAAACACA others(434): Show CAAACACATAAAGCTCTGTTTCCTTCTAGGTAACTGATTTGAGATCTTCC CTCTTTTATAATATAAACACATAAAGCTCTGTTTCCTTCTAGGTATTTGG GATCTTCCCTCTTTTCTAATATAAACACATAAAAGCTCTGTTTCCTTCTA GGTAACTGATTTGAGATCTTCCCTCTTTTCTAATATAAAACCACATAAAG CTCTGTTTCCTTCTAGGTAACTGATTTGAGGATCTTCCCTCTTTTCTAAT AAAAACACATAAAGCTCTGTTTCCTTCTAGGTAACTGGATTTGGGATCTT CCCTCTTTTCTAATACAAACACATAAAGCTCTGTTTCCTTCTAGGTAACT GATTTGGGATCTTCCCTCTTTTCTAATATAAACACATAAAGCTCTGTTTC CTTCTAGGTAACTGGTTTGAGATCTTCCCTCTTTTCTAATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	364	0.0028	441	c.41 others(452): Show c.4156_*4157insAAACACATAAAGCTCTGTTTCCTTCTAGGTAACT GATTTGAGATCTTCCCTCTTTTATAATATAAACACATAAAGCTCTGTTTC CTTCTAGGTATTTGGGATCTTCCCTCTTTTCTAATATAAACACATAAAAG CTCTGTTTCCTTCTAGGTAACTGATTTGAGATCTTCCCTCTTTTCTAATA TAAAACCACATAAAGCTCTGTTTCCTTCTAGGTAACTGATTTGAGGATCT TCCCTCTTTTCTAATAAAAACACATAAAGCTCTGTTTCCTTCTAGGTAAC TGGATTTGGGATCTTCCCTCTTTTCTAATACAAACACATAAAGCTCTGTT TCCTTCTAGGTAACTGATTTGGGATCTTCCCTCTTTTCTAATATAAACAC ATAAAGCTCTGTTTCCTTCTAGGTAACTGGTTTGAGATCTTCCCTCTTTT CTAATAT	RAD21L1	ENSG00000244588.6	transcript	ENST00000683101.1	protein_coding		2738		chr20	TogoVar
SAMD12_chr8_118372984_118626963	118469545	T T	TATAATAT others(434): Show TATAATATATAATTATATAATATATATTATATATAATATATAATATATAT AATATACATTTATATATTATATAATATATAAATATATATTATATATAATA TATAATATATATTTATATATTATATATAATATATAATTATATTTATATAT TATATATAAATATATATTATATATAATATATATTATATATTATATATAAT ATATATTATATATAATATAAATATATATTATATATAATATATAATATATA TTATATATAATATATATTATATATAATATATAAATATAATTATATATTAT ATATAATATATAAATATATATTATATATTATATATAATATATATTTATAT ATTATATAATATATAAATATATATTATATATATTTAATATATATTTTATA TATAAATTATATATTATATATATTTAATATATATTTTATATA	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0052 a0001c0002t0001g0052	1	188	0.0053	441	c.193 others(460): Show c.193-29585_193-29584insTATATAAAATATATATTAAATATATA TAATATATAATTTATATATAAAATATATATTAAATATATATAATATATAT TTATATATTATATAATATATAAATATATATTATATATAATATATAATATA TATTTATATATTATATATAATATATAATTATATTTATATATTATATATAA TATATATTATATATAATATATATTATATATTATATATAATATATATTTAT ATTATATATAATATATATTATATATAATATATAATATATATTATATATAA TATATATTTATATATAATATATAAATATAATTATATATTATATATAATAT ATAAATATATATTATATATTATATATAATATATATTTATATATTATATAA TATATAAATGTATATTATATATATTATATATTATATATAATATATATTAT ATAATTATATATTAT	SAMD12	ENSG00000177570.15	transcript	ENST00000314727.9	protein_coding	2/3			chr8	TogoVar
SAMD12_chr8_118372984_118626963	118469545	T T	TATAATAT others(434): Show TATAATATATAATTATATAATATATATTATATATAATATATAATATATAT AATATATATTTATATATTATATAATATATAAATATATATTATATATAATA TATAATATATATTTATATATTATATATAATATATAATTATATTTATATAT TATATATAAATATATATTATATATAATATATATTATATATTATATATAAT ATATATTATATATAATATAAATATATATTATATATTATATATAATATATA TTATATATAATATATATTATATATAATATATAAATATAATTATATATTAT ATATAATATATAAATATATATTATATATTATATATAATATATATTTATAT ATTATATAATATATAAATATATATTATATATATTTAATATATATTTTATA TATAAATTATATATTATATATATTTAATATATATTTTATATA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0153 a0001c0001t0002g0153	1	188	0.0053	441	c.193 others(460): Show c.193-29585_193-29584insTATATAAAATATATATTAAATATATA TAATATATAATTTATATATAAAATATATATTAAATATATATAATATATAT TTATATATTATATAATATATAAATATATATTATATATAATATATAATATA TATTTATATATTATATATAATATATAATTATATTTATATATTATATATAA TATATATTATATATAATATATATTATATATAATATATAATATATATTTAT ATTATATATAATATATATTATATATAATATATAATATATATTATATATAA TATATATTTATATATAATATATAAATATAATTATATATTATATATAATAT ATAAATATATATTATATATTATATATAATATATATTTATATATTATATAA TATATAAATATATATTATATATATTATATATTATATATAATATATATTAT ATAATTATATATTAT	SAMD12	ENSG00000177570.15	transcript	ENST00000314727.9	protein_coding	2/3			chr8	TogoVar
SEPTIN9_chr17_77276499_77505593	77485015	G G	GTGATTGT others(434): Show GTGATTGTGATGGTGGTGAAGGGGGTGATGGTGGTGATTGTGATGGTGGT GAAGGGGGTGATGGTGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGG TGATTGTGATGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGGG GTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATGGTGATTGTGATGGT GGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGATGGGGTGATGGTGGT GATGGGGCGATGGTGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGGT GATTGTGATGGTGGTGATGGTGATGGTGGTGATTGGTGTGGTGATGTGGG TGGTGGTGGTGATGTGGGTGGTGGTGGTGATTGTGATGGGGTGATGGTAA TGTGGGTGATGGTGATTGTGGTGGTAGTGGTGGTGATGGTGA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	150	0.0067	441	c.914 others(458): Show c.914-2368_914-2367insATGGTGGTGAAGGGGGTGATGGTGGTGA TTGTGATGGTGGTGAAGGGGGTGATGGTGGTGATTGTGATGGTGAAGGGG GTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGGCGATTGTGGT GGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGA TTGTGATGGTGGTGATGGGGTGATGGTGGTGATGGGGCGATGGTGGTGAT TGTGATGGTGGTGAAGGGGGTGATGGTGGTGATTGTGATGGTGGTGATGG TGATGGTGGTGATTGGTGTGGTGATGTGGGTGGTGGTGGTGATGTGGGTG GTGGTGGTGATTGTGATGGGGTGATGGTAATGTGGGTGATGGTGATTGTG GTGGTAGTGGTGGTGATGGTGATGATTGTGATGGTGGTGAAGGGGGTGAT GGTGGTGATTGTG	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77485015	G G	GTGATTGT others(434): Show GTGATTGTGATGGTGGTGAAGGGGGTGATGGTGGTGATTGTGATGGTGGT GAAGGGGGTGATGGTGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGG TGATTGTGATGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGGG GTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATGGTGATTGTGATGGT GGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGATGGGGTGATGGTGGT GATGGGGCGATGGTGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGGT GATTGTGATGGTGGTGATGGTGATGGTGGTGATTGGTGTGGTGATGTGGG TGGTGGTGGTGATGTGGGTGGTGGTGGTGATTGTGATGGGGTGATGGTAA TGTGGGTGATGGTGATTGTGGTGGTAGTGGTGGTGATGGTGA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	158	0.0063	441	c.860 others(458): Show c.860-2368_860-2367insATGGTGGTGAAGGGGGTGATGGTGGTGA TTGTGATGGTGGTGAAGGGGGTGATGGTGGTGATTGTGATGGTGAAGGGG GTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGGCGATTGTGGT GGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGA TTGTGATGGTGGTGATGGGGTGATGGTGGTGATGGGGCGATGGTGGTGAT TGTGATGGTGGTGAAGGGGGTGATGGTGGTGATTGTGATGGTGGTGATGG TGATGGTGGTGATTGGTGTGGTGATGTGGGTGGTGGTGGTGATGTGGGTG GTGGTGGTGATTGTGATGGGGTGATGGTAATGTGGGTGATGGTGATTGTG GTGGTAGTGGTGGTGATGGTGATGATTGTGATGGTGGTGAAGGGGGTGAT GGTGGTGATTGTG	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SERINC2_chr1_31408213_31439678	31431885	A A	AGAGGGTG others(434): Show AGAGGGTGGAGAGGGTGAATAGGGTGGTTAGGGTGGTTAGGGTGGATAGG ACGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGA TAGGGTGGAGAGGGTGGATAGGGTGGACAGGGTGGAGAGGGTGGATAGGG TGGATAGGGTGGTTAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGTT AGGGTGGTTAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGT GGATAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATA GGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTG GAGAGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGATAG GGTGGATAGGGTGGATAGGGTGGTTAGGGTGGTTAGGGTGGT	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0286 a0002c0002t0001g0286	1	376	0.0027	441	c.101 others(460): Show c.1014-1082_1014-1081insGAGGGTGGAGAGGGTGAATAGGGTGG TTAGGGTGGTTAGGGTGGATAGGACGGTTAGGGTGGATAGGGTGGATAGG GTGGATAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGA CAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGTTAGGG TGGATAGGGTGGATAGGGTGGTTAGGGTGGTTAGGGTGGTTAGGGTGGAT AGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGT GGATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATA GGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGAGAGGGTG GATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAG GGTGGTTAGGGTGGT	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9			chr1	TogoVar
SLC22A23_chr6_3263973_3462050	3356090	C C	CGGGGGGC others(434): Show CGGGGGGCGCGGGAGGGGGAGGAGGCGGGGGGGCGGCAGGGGGGAGGCGG GGGGGCGGGAGGGGAGGAGGCGGGGAGGCGGGAGGGGGAGGAGGCGGGGA GGCGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGGGAGGAGGCGGGGGGG CGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGGGGAGGAGGCGGGGGGGC GGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGGGGAGGCGGGGGGGCGGGA GGGGGCCGGAGGGGGAGGAGGCGGGGGGGGCGGGGGGGCGGGAGGGGCGG GAGGGGGAGGAGGCGGGGGGGCGGGAGGGGGGAGGCGGGGGGGCGGGAGG GGAAGGAGGCGGGGGGGGCGGGGGGGAGGGAGGGGAAGGAGGCGGGGGGG GCGGGAGGGGGAGGACGCGGGGGGGGCGGGGGGGGCGGGAGG	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	222	0.0045	441	c.914 others(460): Show c.914-32089_914-32088insCCTCCCGCCCCCCCCGCCCCCCCCGC GTCCTCCCCCTCCCGCCCCCCCCGCCTCCTTCCCCTCCCTCCCCCCCGCC CCCCCCGCCTCCTTCCCCTCCCGCCCCCCCGCCTCCCCCCTCCCGCCCCC CCGCCTCCTCCCCCTCCCGCCCCTCCCGCCCCCCCGCCCCCCCCGCCTCC TCCCCCTCCGGCCCCCTCCCGCCCCCCCGCCTCCCCCCTCCCGCCCCCCC GCCTCCTCCCCCTCCCGCCCCCCCGCCTCCTCCCCCCTCCCGCCCCCCCG CCTCCTCCCCCTCCCGCCCCCCCGCCTCCTCCCCCTCCCGCCCCCCCGCC TCCTCCCCCTCCCGCCTCCCCGCCTCCTCCCCCTCCCGCCTCCCCGCCTC CTCCCCTCCCGCCCCCCCGCCTCCCCCCTGCCGCCCCCCCGCCTCCTCCC CCTCCCGCGCCCCCC	SLC22A23	ENSG00000137266.15	transcript	ENST00000406686.8	protein_coding	3/9			chr6	TogoVar
SMYD3_chr1_245744347_246512279	245798398	A A	ACACACCA others(434): Show ACACACCACACATACACACACACACATACACACACAAACACACACACATA CACACCACACACACATACCCACACACACACATACATACACACCACACACC CCCACACACATACACACACACAAAAATACACATACACACAAACACACAAA TACACACATACACACAAAAATACACATACACACAAACACACAAATACACA CACAGAAATACACATACATACACACACACACACCCACATACCCACACACA TACCCACACACCCACAAACACACATACACACACACACACAAATACACACA CATACATAACACACCCACACACATACACACACACAATACACATACACACA AACACACACATACACATACAAAAATACACACATACACACACACAAATACA CACATACACACACATACCCACACACACATACACACACATACT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00544.hp1 HG00597.hp2 others(17): Show HG00423.hp2 HG00544.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp2 HG02056.hp1 HG02132.hp1 HG02273.hp2 HG02615.hp1 HG02886.hp2 HG04228.hp2 NA18747.hp1 NA18963.hp2 NA19000.hp1 NA19057.hp2 NA19090.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0002c0003t0001 a0002c0003t0002	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0042 others(17): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0042 a0001c0001t0001g0054 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0090 a0001c0001t0002g0004 a0001c0001t0002g0027 a0001c0001t0002g0032 a0001c0001t0002g0085 a0001c0002t0001g0016 a0001c0002t0001g0056 a0001c0002t0001g0079 a0001c0002t0002g0010 a0001c0002t0002g0083 a0001c0002t0002g0084 a0002c0003t0001g0100 a0002c0003t0002g0104 a0002c0003t0002g0130	20	150	0.1333	441	c.107 others(462): Show c.1077-34250_1077-34249insAGTATGTGTGTGTATGTGTGTGTG GGTATGTGTGTGTATGTGTGTATTTGTGTGTGTGTATGTGTGTATTTTTG TATGTGTATGTGTGTGTTTGTGTGTATGTGTATTGTGTGTGTGTATGTGT GTGGGTGTGTTATGTATGTGTGTGTATTTGTGTGTGTGTGTGTATGTGTG TTTGTGGGTGTGTGGGTATGTGTGTGGGTATGTGGGTGTGTGTGTGTGTA TGTATGTGTATTTCTGTGTGTGTATTTGTGTGTTTGTGTGTATGTGTATT TTTGTGTGTATGTGTGTATTTGTGTGTTTGTGTGTATGTGTATTTTTGTG TGTGTGTATGTGTGTGGGGGTGTGTGGTGTGTATGTATGTGTGTGTGTGG GTATGTGTGTGTGGTGTGTATGTGTGTGTGTTTGTGTGTGTATGTGTGTG TGTGTATGTGTGGTGTG	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	10/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245798398	A A	ACACACCA others(434): Show ACACACCACACATACACACACACACATACACACACAAACACACACACATA CACACCACACACACATACCCACACACACACATACATACACACCACACACC CCCACACACATACACACACACAAAAATACACATACACACAAACACACAAA TACACACATACACACAAAAATACACATACACACAAACACACAAATACACA CACAGAAATACACATACATACACACACACACACCCACATACCCACACACA TACCCACACACCCACAAACACACATACACACACACACACAAATACACACA CATACATAACACACCCACACACATACACACACACAATACACATACACACA AACACACACATACACATACAAAAATACACACATACACACATACAAATACA CACATACACACACATACCCACACACACATACACACACATACT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03225.hp1 HG03130.hp1 HG03225.hp1	a0002 a0002	a0002c0003 a0002c0017 a0002c0003 a0002c0017	a0002c0003t0001 a0002c0017t0001 a0002c0003t0001 a0002c0017t0001	a0002c0003t0001g0111 a0002c0017t0001g0122 a0002c0003t0001g0111 a0002c0017t0001g0122	2	150	0.0133	441	c.107 others(462): Show c.1077-34250_1077-34249insAGTATGTGTGTGTATGTGTGTGTG GGTATGTGTGTGTATGTGTGTATTTGTATGTGTGTATGTGTGTATTTTTG TATGTGTATGTGTGTGTTTGTGTGTATGTGTATTGTGTGTGTGTATGTGT GTGGGTGTGTTATGTATGTGTGTGTATTTGTGTGTGTGTGTGTATGTGTG TTTGTGGGTGTGTGGGTATGTGTGTGGGTATGTGGGTGTGTGTGTGTGTA TGTATGTGTATTTCTGTGTGTGTATTTGTGTGTTTGTGTGTATGTGTATT TTTGTGTGTATGTGTGTATTTGTGTGTTTGTGTGTATGTGTATTTTTGTG TGTGTGTATGTGTGTGGGGGTGTGTGGTGTGTATGTATGTGTGTGTGTGG GTATGTGTGTGTGGTGTGTATGTGTGTGTGTTTGTGTGTGTATGTGTGTG TGTGTATGTGTGGTGTG	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	10/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245798399	C C	CACACCAC others(434): Show CACACCACACATACACACACACACACATACACACAGAAACACACACACAT ACACACCACACACACATACCCACACACACACATACATACACACCACACAC CCCCACACACATACACACACACAAAAATACACATACACACAAACACACAA ATACACACATACACACAAAAATACACATACACACAAACACACAAATACAC ACACAGAAATACACATACATACACACACACACCCACATACCCACACACAT ACCCACACACCCACAAACACACATACACACACACACACACAAATACACAC ACATACATAACACACCCACACACATACACACACACAATACACATACACAC AAACACACACATACACATACAAAAATACACACATACACACACACAAATAC ACACATACACACACATACCCACACACACACATACACACACAT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02622.hp2 HG02809.hp2 HG00738.hp1 HG02622.hp2 HG02809.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0002c0003t0002 a0001c0001t0001 a0002c0003t0001 a0002c0003t0002	a0001c0001t0001g0038 a0002c0003t0001g0133 a0002c0003t0002g0110 a0001c0001t0001g0038 a0002c0003t0001g0133 a0002c0003t0002g0110	3	150	0.0200	441	c.107 others(462): Show c.1077-34251_1077-34250insATGTGTGTGTATGTGTGTGTGTGG GTATGTGTGTGTATGTGTGTATTTGTGTGTGTGTATGTGTGTATTTTTGT ATGTGTATGTGTGTGTTTGTGTGTATGTGTATTGTGTGTGTGTATGTGTG TGGGTGTGTTATGTATGTGTGTGTATTTGTGTGTGTGTGTGTGTATGTGT GTTTGTGGGTGTGTGGGTATGTGTGTGGGTATGTGGGTGTGTGTGTGTAT GTATGTGTATTTCTGTGTGTGTATTTGTGTGTTTGTGTGTATGTGTATTT TTGTGTGTATGTGTGTATTTGTGTGTTTGTGTGTATGTGTATTTTTGTGT GTGTGTATGTGTGTGGGGGTGTGTGGTGTGTATGTATGTGTGTGTGTGGG TATGTGTGTGTGGTGTGTATGTGTGTGTGTTTCTGTGTGTATGTGTGTGT GTGTGTATGTGTGGTGT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	10/11			chr1	TogoVar
SNX6_chr14_34556093_34635148	34557559	T T	TTCTCTTC others(434): Show TTCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTTTCTTTCTTCTTCTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0284 a0001c0001t0003g0284	1	322	0.0031	441	c.55 others(452): Show c.5562_*5563insGAAGAAGAAGAAAGAAAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAGA	SNX6	ENSG00000129515.20	transcript	ENST00000362031.10	protein_coding		3533		chr14	TogoVar
SNX9_chr6_157818246_157950077	157827118	T T	TATATTAT others(434): Show TATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATA TATAAACATATATTATAGTTTATATAATATATAAACATATATTATAGTTT ATATAATATATAAACATATATTATAGTTTATATAATATATAAACATATAT TATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATATAA ACATATAGTTTATATAATATATAAACATATAGTTTATATAATATATAAAC ATATAGTTTATATAATATATAAACATATAGTTTATATAATATATAAACAT ATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAATAT ATACACATATATTATAGTTTATATAATATATACACATATATTATAGTTTA TATAATATATACACATATATTATAGTTTATATAATATATAAA	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	302	0.0033	441	c.12+ others(456): Show c.12+3676_12+3677insTATAGTTTATATAATATATAAACATATATT ATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATATAAA CATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAA TATATAAACATATATTATAGTTTATATAATATATAAACATATATTATAGT TTATATAATATATAAACATATAGTTTATATAATATATAAACATATAGTTT ATATAATATATAAACATATAGTTTATATAATATATAAACATATAGTTTAT ATAATATATAAACATATATTATAGTTTATATAATATATACACATATATTA TAGTTTATATAATATATACACATATATTATAGTTTATATAATATATACAC ATATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAAT ATATAAAATAT	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SPATC1L_chr21_46156160_46189459	46161029	A A	AAGGGGAA others(434): Show AAGGGGAAGGGGGAAGGGGGAGGGGGAAGGGGGAGGGGGAGGGGGAGGGG GAGGTGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGTGGGAGGGG GAGGGGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGGAAGCGGGAA CGGGGGAGGGGGGAGAGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGGA GGGGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGAGATGGGGAGGG GGAGGGGGGAGGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGGGGGA GGGGAGATGGGGAGGGGGAGGGGGGAGGGGGAGGGGGGAGGGGGAGGGGA GGGGGGAGGGGGAAGGGGGAGGGGGGAGGGGGAAGGGGGAGGGGGAACGG GGGAGGGGAGATGGGGAGGGGGAGGGGGAGGGGGAAGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG01169.hp2 HG01256.hp1 HG00280.hp2 HG01169.hp2 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0003 a0001c0001t0004g0161 a0001c0001t0004g0164 a0001c0001t0004g0003 a0001c0001t0004g0161 a0001c0001t0004g0164	3	251	0.0120	441	c.34 others(450): Show c.349_*350insCCCCGCTTCCCCCTCCCCCTCCCCCTCCCCATCTCC CCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCCTTCCCCCT CCCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCTCCCCAT CTCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCCTCCC CCCTCCCCCTCCCCATCTCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCT TCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCTCTCCCCCCT CCCCCGTTCCCGCTTCCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTC CCCCTCCCCCTCCCACCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCC CACCTCCCCCTCCCCCTCCCCCTCCCCCTTCCCCCTCCCCCTTCCCCCTT CCCCT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		130		chr21	TogoVar
SPATC1L_chr21_46156160_46189459	46161029	A A	AAGGGGAA others(434): Show AAGGGGAAGGGGGAAGGGGGAGGGGGAAGGGGGAGGGGGAGGGGGAGGGG GAGGTGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGTGGGAGGGG GAGGGGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGGAAGCGGGAA CGGGGGAGGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGGA GGGGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGAGATGGGGAGGG GGAGGGGGGAGGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGGGGGA GGGGAGATGGGGAGGGGGAGGGGGGAGGGGGAGGGGGGAGGGGGAGGGGA GGGGGGAGGGGGAAGGGGGAGGGGGGAGGGGGAAGGGGGAGGGGGAACGG GGGAGGGGAGATGGGGAGGGGGAGGGGGAGGGGGAAGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00735.hp1 others(5): Show HG00140.hp2 HG00323.hp1 HG00735.hp1 HG02129.hp1 HG03239.hp1 NA18983.hp2 NA19004.hp1 NA20905.hp1	a0001 a0012 a0001 a0012	a0001c0001 a0012c0011 a0001c0001 a0012c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0012c0011t0004	a0001c0001t0001g0016 a0001c0001t0001g0152 a0001c0001t0002g0015 others(4): Show a0001c0001t0001g0016 a0001c0001t0001g0152 a0001c0001t0002g0015 a0001c0001t0004g0003 a0001c0001t0004g0020 a0001c0001t0004g0177 a0012c0011t0004g0160	8	251	0.0319	441	c.34 others(450): Show c.349_*350insCCCCGCTTCCCCCTCCCCCTCCCCCTCCCCATCTCC CCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCCTTCCCCCT CCCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCTCCCCAT CTCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCCTCCC CCCTCCCCCTCCCCATCTCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCT TCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCT CCCCCGTTCCCGCTTCCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTC CCCCTCCCCCTCCCACCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCC CACCTCCCCCTCCCCCTCCCCCTCCCCCTTCCCCCTCCCCCTTCCCCCTT CCCCT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		130		chr21	TogoVar
SRXN1_chr20_641615_658200	641972	G G	GGGGGGGG others(434): Show GGGGGGGGCCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGTCCAGCGGGGG TGGAGTTGCCTGGGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGG GGGAGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGCGCCCAGCGGGGGTG GGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGG CCCAGCGGGGGTGGAGTTGCCTGGGGGGAGGCCCAGCGGGGGTGGGGTTG CCTGGGGGGGTGCCCAGCGGGGGTGGAGTTGCCTGGGGGGTGCCCAGCGG GGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTG GGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGT GGAGTTGCCTGGGGGGGGGGCCCAGCGGGGGTGGGGTTGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0048 a0001c0002t0005g0048	1	422	0.0024	441	c.67 others(452): Show c.6741_*6742insAGGCAACCCCACCCCCGCTGGGCCCCCCCCCCAG GCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGG CCCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCCCCACAGGCAA CTCCACCCCCGCTGGGCACCCCCCAGGCAACTCCACCCCCGCTGGGCACC CCCCCAGGCAACCCCACCCCCGCTGGGCCTCCCCCCAGGCAACTCCACCC CCGCTGGGCCCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCCCA GGCAACCCCACCCCCGCTGGGCGCCCCCCCAGGCAACCCCACCCCCGCTG GGCCTCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCCCAGG CAACTCCACCCCCGCTGGACCCCCCCCAGGCAACTCCACCCCCGCTGGGG CCCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4642		chr20	TogoVar
SRXN1_chr20_641615_658200	642230	T T	TGGGGGGG others(434): Show TGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGAGGCCCAGCGG GGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGATGGGGTTGCCTGGGGG GGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGA GTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCA GCGGGGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCC TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGG GGTGGAGTTGCCTGTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGG GGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCAGGGGT GGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp1 NA18747.hp1 NA18947.hp2 others(7): Show HG03669.hp1 NA18747.hp1 NA18947.hp2 NA18966.hp2 NA18986.hp1 NA18993.hp2 NA19012.hp1 NA19055.hp1 NA19055.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0019 a0001c0001t0001 a0001c0001t0002 a0001c0001t0019	a0001c0001t0001g0002 a0001c0001t0002g0001 a0001c0001t0002g0004 others(4): Show a0001c0001t0001g0002 a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0030 a0001c0001t0002g0064 a0001c0001t0002g0107 a0001c0001t0019g0100	10	422	0.0237	441	c.64 others(452): Show c.6483_*6484insCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAG GCAACTCCACCCCTGCTGGGCCCCCCCCCACAGGCAACTCCACCCCCGCT GGGCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCACCACAGGCA ACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCC CCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCACAGGCAACTCC ACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCC CAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACCCCACCCCCGC TGGGCCCCCCCCCAGGCAACCCCATCCCCGCTGGGCCCCCCCCCAGGCAA CTCCACCCCCGCTGGGCCTCCCCCCACAGGCAACTCCACCCCCGCTGGGC CCCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4384		chr20	TogoVar
SRXN1_chr20_641615_658200	642230	T T	TGGGGGGG others(434): Show TGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTTGGGGGAGGCCCAGCGG GGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGATGGGGTTGCCTGGGGG GGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGA GTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCA GCGGGGGTGAGTTGCCTGTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCT GGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGG GGTGGAGTTGCCTGTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGG GGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCAGGGGT GGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0001 a0001c0001t0005g0001	1	422	0.0024	441	c.64 others(452): Show c.6483_*6484insCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAG GCAACTCCACCCCTGCTGGGCCCCCCCCCACAGGCAACTCCACCCCCGCT GGGCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCACCACAGGCA ACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCC CCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCACAGGCAACTC ACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCC CAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACCCCACCCCCGC TGGGCCCCCCCCCAGGCAACCCCATCCCCGCTGGGCCCCCCCCCAGGCAA CTCCACCCCCGCTGGGCCTCCCCCAACAGGCAACTCCACCCCCGCTGGGC CCCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4384		chr20	TogoVar
STAB2_chr12_103582273_103771719	103768598	G G	GGGGAGGG others(434): Show GGGGAGGGGGGAGGGAGAGGACAGGGACAGGGAGAGGGAGAGGGAGAGAG AGGGAGGGAGAGGGGGAGGGAGAGGGAGAGGGACAGGGAGAGGGAGGGAG AGAGGGAGAGGGAGGGGAGGGGGGAGAGGGAGGGGAGGGGGAGAGGGGGG AGAGAGAGGGAGGGGGTGGGAGGGGAGGGAGGGAGAGGGACAGGGAGAGG GAGGGAGAGGGAGAGAAGGAGGGAGAGGGAGGGAGAGGGAGAGGGAGGGA GAGGGAGGGAGAGGGAGAGGGAGGGAGGGGGGAGGGAGAGAGATGGGGGA GGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGA CAGGGGGAGGGAGAAGGAGAGGGAGAGGGGGAGGGAGAGGGGGAGAGAGG GAGAGGGAGAGAGAGGGAAAGGGAGTGAGAGAGAGAGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0043 a0043	a0043c0123 a0043c0123	a0043c0123t0001 a0043c0123t0001	a0043c0123t0001g0214 a0043c0123t0001g0214	1	256	0.0039	441	c.22 others(452): Show c.2262_*2263insGGGAGGGGGGAGGGAGAGGACAGGGACAGGGAGA GGGAGAGGGAGAGAGAGGGAGGGAGAGGGGGAGGGAGAGGGAGAGGGACA GGGAGAGGGAGGGAGAGAGGGAGAGGGAGGGGAGGGGGGAGAGGGAGGGG AGGGGGAGAGGGGGGAGAGAGAGGGAGGGGGTGGGAGGGGAGGGAGGGAG AGGGACAGGGAGAGGGAGGGAGAGGGAGAGAAGGAGGGAGAGGGAGGGAG AGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGAGGGAGGGAGGGGGGAGG GAGAGAGATGGGGGAGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGATG GGGGAGGGAGAGGGACAGGGGGAGGGAGAAGGAGAGGGAGAGGGGGAGGG AGAGGGGGAGAGAGGGAGAGGGAGAGAGAGGGAAAGGGAGTGAGAGAGAG AGGGAGA	STAB2	ENSG00000136011.15	transcript	ENST00000388887.7	protein_coding		1880		chr12	TogoVar
SUFU_chr10_102498972_102638535	102637512	A A	ATATTATA others(434): Show ATATTATATATTATATAAACTATATATTATATATAATATATATATTATAT ATTATATAACTATATATTATATATAATATATATATTATATATTATATAAC TATATATATATATAATAATATTATTTATATTATTATTTAAACTATATATT ATATATAATATATATATTATATATTATAAAACTATATATTATATATAATA TATATATATATATTATATAACTATATATTAATATATATATATATTATATA TTATATAACTAGTATATTATATATAATATATATATTTTATATTATATAAC TATATATAATATATAATATATATATTTTATATTATATAACTATATATTAT ATATAATATATAACTATATATTATATAACTATATATTATATATAATATAT ATATTATATATTATATAACTATATATTATATATAATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	268	0.0037	441	c.73 others(452): Show c.7357_*7358insTATTATATATTATATAAACTATATATTATATATA ATATATATATTATATATTATATAACTATATATTATATATAATATATATAT TATATATTATATAACTATATATATATATAATAATATTATTTATATTATTA TTTAAACTATATATTATATATAATATATATATTATATATTATAAAACTAT ATATTATATATAATATATATATATATATTATATAACTATATATTAATATA TATATATATTATATATTATATAACTAGTATATTATATATAATATATATAT TTTATATTATATAACTATATATAATATATAATATATATATTTTATATTAT ATAACTATATATTATATATAATATATAACTATATATTATATAACTATATA TTATATATAATATATATATTATATATTATATAACTATATATTATATATAA TATATAT	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		3978		chr10	TogoVar
SYK_chr9_90796819_90903549	90884880	T T	TACACATA others(434): Show TACACATATGTGTACATATGTGTATATATACATATATATACACATATATA TGTATATATACACATATGTGAATATGTATATATGTGTTATATATACACAT ATGTGTATATGTATATATACATATATACACATATGTGTATATATACATAT ATACATATACACATATGTGTATATACATATATACATATACACATATGTGT ATATATACATATATACATATACACATATGTGTATATATACATATATACAT ATACACATATGTGTATATATAACACATATATACACCTATGTGTATATATA ACACATATATACACCTATGTGTATATATAACACATATATACACCTATGTG TATATATACATATATACACCTATGTGTATATATACATATATACACCTATG TGTATATATACATATATACATATACACATATGTGTATATATA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0045 a0001c0005t0045	a0001c0005t0045g0168 a0001c0005t0045g0168	1	376	0.0027	441	c.158 others(460): Show c.1582-2866_1582-2865insCATATGTGTACATATGTGTATATATA CATATATATACACATATATATGTATATATACACATATGTGAATATGTATA TATGTGTTATATATACACATATGTGTATATGTATATATACATATATACAC ATATGTGTATATATACATATATACATATACACATATGTGTATATACATAT ATACATATACACATATGTGTATATATACATATATACATATACACATATGT GTATATATACATATATACATATACACATATGTGTATATATAACACATATA TACACCTATGTGTATATATAACACATATATACACCTATGTGTATATATAA CACATATATACACCTATGTGTATATATACATATATACACCTATGTGTATA TATACATATATACACCTATGTGTATATATACATATATACATATACACATA TGTGTATATATAACA	SYK	ENSG00000165025.15	transcript	ENST00000375754.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
SYT2_chr1_202585596_202715454	202672778	G G	GGAGGGGG others(434): Show GGAGGGGGAGAGAGAGGGGGAGGGGGAGAGAGTGGGGAGGGAGAGAGAGA AGGGGAGGCGGAGAGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGAG GGGGGAGAGAGGGGGAGGGGGGGAGAGAGGGGGAGGGAGGGGGGAGAGAG GGGGGAGAGGGGGAGGGAGGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGG GAGGGGGAGAGAGAGGGGGAGGGAGGGAGGGGGGAGAGAGAGGGGGAGGG AGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGAGGGAGGGG GAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGG GAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGGGG GAGAGAGAGGGGGAGGGAGGGAGGGAGGGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0108 a0001c0002t0013g0108	1	276	0.0036	441	c.-18 others(460): Show c.-18+37479_-18+37480insTCTCTCTCTCTCTCCCTCCCTCCCTC CCTCCCCCTCTCTCTCCCCCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCC CTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCT CTCTCCCCCCTCCCTCCCCCTCCCTCCCCTCTCTCTCCCCCCTCCCTCCC CCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCTCCC CCTCTCTCTCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCCTC CCTCCCCCTCTCCCCCCTCTCTCCCCCCTCCCTCCCCCTCTCTCCCCCCC TCCCCCTCTCTCCCCCCTCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTC CCTCTCCGCCTCCCCTTCTCTCTCTCCCTCCCCACTCTCTCCCCCTCCCC CTCTCTCTCCCCCTC	SYT2	ENSG00000143858.12	transcript	ENST00000367268.5	protein_coding	1/8			chr1	TogoVar
SYT2_chr1_202585596_202715454	202672778	G G	GGAGGGGG others(434): Show GGAGGGGGAGAGAGAGGGGGAGGGGGAGAGAGTGGGGAGGGAGAGAGAGA AGGGGAGGCGGAGAGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGAG GGGGGAGAGAGGGGGAGGGGGGGAGAGAGGGGGAGGGAGGGGGGAGAGAG GGGGGAGAGGGGGAGGGAGGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGG GAGGGGGAGAGAGAGGGGGAGGGAGGGAGGGGGGAGAGAGAGGGGGAGGG AGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGG GGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAG GGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGGG GAGAGAGAGGGGGAGGGAGGGAGGGAGGGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0094 a0001c0003t0094	a0001c0003t0094g0116 a0001c0003t0094g0116	1	276	0.0036	441	c.-18 others(460): Show c.-18+37479_-18+37480insTCTCTCTCTCTCTCCCTCCCTCCCTC CCTCCCCCTCTCTCTCCCCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCC TCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCTC TCTCCCCCCTCCCTCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCC CCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCTCCC CCTCTCTCTCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCCTC CCTCCCCCTCTCCCCCCTCTCTCCCCCCTCCCTCCCCCTCTCTCCCCCCC TCCCCCTCTCTCCCCCCTCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTC CCTCTCCGCCTCCCCTTCTCTCTCTCCCTCCCCACTCTCTCCCCCTCCCC CTCTCTCTCCCCCTC	SYT2	ENSG00000143858.12	transcript	ENST00000367268.5	protein_coding	1/8			chr1	TogoVar
SYT2_chr1_202585596_202715454	202672778	G G	GGAGGGGG others(434): Show GGAGGGGGAGAGAGAGGGGGAGGGGGAGAGAGTGGGGAGGGAGAGAGAGA AGGGGAGGCGGAGAGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGAG GGGGGAGAGAGGGGGAGGGGGGGAGAGAGGGGGAGGGAGGGGGGAGAGAG GGGGGAGAGGGGGAGGGAGGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGG GAGGGGGAGAGAGAGGGGGAGGGAGGGAGGGGGGAGAGAGAGGGGGAGGG AGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGG GGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAG GGAGGGGGGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGGGGG GAGAGAGAGGGGGAGGGAGGGAGGGAGGGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0125 a0001c0003t0125	a0001c0003t0125g0221 a0001c0003t0125g0221	1	276	0.0036	441	c.-18 others(460): Show c.-18+37479_-18+37480insTCTCTCTCTCTCTCCCTCCCTCCCTC CCTCCCCCTCTCTCTCCCCCCCCTCCCCCTCTCTCTCCCCCCTCCCTCCC CCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCTC TCTCCCCCCTCCCTCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCC CCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCTCCC CCTCTCTCTCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCCTC CCTCCCCCTCTCCCCCCTCTCTCCCCCCTCCCTCCCCCTCTCTCCCCCCC TCCCCCTCTCTCCCCCCTCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTC CCTCTCCGCCTCCCCTTCTCTCTCTCCCTCCCCACTCTCTCCCCCTCCCC CTCTCTCTCCCCCTC	SYT2	ENSG00000143858.12	transcript	ENST00000367268.5	protein_coding	1/8			chr1	TogoVar
TAF4_chr20_61969798_62070881	62058768	C C	CGGGGGCC others(434): Show CGGGGGCCAACCTCAGCAAGACCTCAGGAAGGACGGACACAGGCCTACAC ACCAGGCCACAGACAATGGGGCTCGGGGGGCCAACCTCAGCAAGACCTCA GGAAGGACGGACACAGGCCTACACACCAGGCCACAGACAATGGGGCTCGG GGGCCAACCTCAGCAAGACCTCAGGAAGGACGGACACAGGTCTACACACC AGGCCACAGACAATGGGGCTCGGGGGCCAACCTCAGCAAGACCTCAGGAA GGACGGACACAGGTCTACACACCAGGCCACAGACAATGGGGCTCGGGGGC CAACCTCAGCAAGACCTCAGGAAGGACGGACACAGGTCTACACACCAGGC CACAGACAATGGGGCTCGGGGGGCCAACCTCAGCAAGACCTCAGGAAGGA CGGACACAGGTCTACACACCAGGCCACAGACAATGGGGCTCG	intron_variant intron_variant	MODIFIER	HG00609.hp2 NA18956.hp2 HG00609.hp2 NA18956.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0230 a0001c0002t0001g0268 a0001c0002t0001g0230 a0001c0002t0001g0268	2	314	0.0064	441	c.136 others(460): Show c.1360+5682_1360+5683insCGAGCCCCATTGTCTGTGGCCTGGTG TGTAGACCTGTGTCCGTCCTTCCTGAGGTCTTGCTGAGGTTGGCCCCCCG AGCCCCATTGTCTGTGGCCTGGTGTGTAGACCTGTGTCCGTCCTTCCTGA GGTCTTGCTGAGGTTGGCCCCCGAGCCCCATTGTCTGTGGCCTGGTGTGT AGACCTGTGTCCGTCCTTCCTGAGGTCTTGCTGAGGTTGGCCCCCGAGCC CCATTGTCTGTGGCCTGGTGTGTAGACCTGTGTCCGTCCTTCCTGAGGTC TTGCTGAGGTTGGCCCCCGAGCCCCATTGTCTGTGGCCTGGTGTGTAGGC CTGTGTCCGTCCTTCCTGAGGTCTTGCTGAGGTTGGCCCCCCGAGCCCCA TTGTCTGTGGCCTGGTGTGTAGGCCTGTGTCCGTCCTTCCTGAGGTCTTG CTGAGGTTGGCCCCC	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	1/14			chr20	TogoVar
TAFA5_chr22_48484553_48756932	48620601	A A	ACCCATCC others(434): Show ACCCATCCTATCCACCCACCCACCATCCCCCATCCTATCCACCCACCCAC CATCCACCATCCTATCCACCCACCCACCATCCACCATCCATCCACCACCC CCACATCCATCCTATCTACTCACCCCCATACCCATCCTATCCACCCACCC ACCATCCCCCATCCTATCCACCCACCCACCATCCCCCATCCTATCCACCC CCCCACCATCCACCATCCATCCACCACCCCCACATCCATCCTATCTACTC ACCCCCATACCCATCCTATCCACCCACCCACCATCCCCCATCCTATCTAC CCCCCCACCATCCCCCATCCTATCTACCCCCCCACCATCCCCCATCCTAT CCACCCCCCCACCATCCACCATCCATCCACCACCCCCACATCCATCCTAT CTACTCACCCCCATACCCATCCTATCCACCCACCCACCATCC	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0063 a0001c0001t0003g0063	1	258	0.0039	441	c.113 others(460): Show c.113-25935_113-25934insTATCCACCCACCCACCATCCACCATC CATCCACCACCCCCACATCCATCCTATCTACTCACCCCCATACCCATCCT ATCCACCCACCCACCATCCCCCATCCTATCCACCCACCCACCATCCCCCA TCCTATCCACCCCCCCACCATCCACCATCCATCCACCACCCCCACATCCA TCCTATCTACTCACCCCCATACCCATCCTATCCACCCACCCACCATCCCC CATCCTATCTACCCCCCCACCATCCCCCATCCTATCTACCCCCCCACCAT CCCCCATCCTATCCACCCCCCCACCATCCACCATCCATCCACCACCCCCA CATCCATCCTATCTACTCACCCCCATACCCATCCTATCCACCCACCCACC ATCCCCCATCCTATCCACCCACCCACCATCCCCCATCCTATCCACCCACC CACCATCCACCATCC	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TAFA5_chr22_48484553_48756932	48620608	C C	CTATCCAC others(434): Show CTATCCACCCACCCACCATCCCCCATCCTATCCACCCACCCACCATCCAC CATCCTATCCACCCACCCACCATCCACCATCCATCCACCACCCCCACATC CATCCTATCTACTCACCCCCATACCCATCCTATCCACCCACCCACCATCC CCCATCCTATCCACCCACCCACCATCCCCCATCCTATCCACCCACCCACC ATCCACCATCCATCCACCACCCCCACATCCATCCTATCTACTCACCCCCA TACCCATCCTATCCACCCACCCACCATCCCCCATCGTATCCACCCACCCA CCATCCCCCATCCTATCCACCCACCCACCATCCACCATCCTATCCACCCA CCCACCATCCACCATCCATCCACCACCCCCACATCCATCCTATCTACTCA CCCCCATACCCATCCTATCCACCCACCCACCATCCCCCATCG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	258	0.0039	441	c.113 others(460): Show c.113-25935_113-25934insTATCCACCCACCCACCATCCACCATC CATCCACCACCCCCACATCCATCCTATCTACTCACCCCCATACCCATCCT ATCCACCCACCCACCATCCCCCATCCTATCCACCCACCCACCATCCCCCA TCCTATCCACCCACCCACCATCCACCATCCATCCACCACCCCCACATCCA TCCTATCTACTCACCCCCATACCCATCCTATCCACCCACCCACCATCCCC CATCGTATCCACCCACCCACCATCCCCCATCCTATCCACCCACCCACCAT CCACCATCCTATCCACCCACCCACCATCCACCATCCATCCACCACCCCCA CATCCATCCTATCTACTCACCCCCATACCCATCCTATCCACCCACCCACC ATCCCCCATCGTATCCACCCACCCACCATCCCCCATCCTATCCACCCACC CACCATCCACCATCC	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar

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