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
GNG13_chr16_793041_805734	795584	G G	GCCCCCCC others(712): Show GCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCGCC CCCCTGTGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCA AACACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCCAAC CACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCA CACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACAC TGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCC GTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTG TGGCTGCCCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGC CCCCGGCCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCC CCGGCCCCGTGCCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCG GCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGC CCCGTGCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTG CCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCC CGCCCCGCCCCTCCCCTCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	216	0.0046	719	c.31 others(730): Show c.3134_*3135insGGGAGGGGAGGGGCGGGGCGGGGCGGCACGGGGC CGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGCACGGGGCCGGGGG CAGCCACACGGGCAGTGTGGTTGGGGGGGGCACGGGGCCGGGGGCAGCCA CACGGGCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGGGGCAGCCACA CGGGCAGTGTGGTTGGGGGGGGGGGCACGGGGCCGGGGGCAGCCACACGG GCAGTGTGTTTGGGGGGGAGGGGCACGGGGCCGGGGGCAGCCACACGGGC AGCACAGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGT TTGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTG GGGGAGAAGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGTTTGGG GGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGTTTGGGGGG GCGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGAGAA GGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGGGG GCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGTTTGGGGGGGAGGGGC ACGGGGCCGGGGGCAGCCACACGGGCAGCACAGGGGGGCGGGCACGGGGC CGGGGGCAGCCACACGGGCAGTGTGTTTGGGGGGG	GNG13	ENSG00000127588.5	transcript	ENST00000248150.5	protein_coding		2456		chr16	TogoVar
IFNAR1_chr21_33319970_33364864	33322909	T T	TGGAATAC others(712): Show TGGAATACATATATATGGAATACATATATATGGAATACATATATGGAATA CATATATATGGAATACACATATGGAATACATATATATGGAATACATATAT GGAATACATATATATGGAATACATATATGGAATACATATATATGGAATAC ATATATGGAATACATATATATGGAATACATATATGGAATACATATATGTG GAATACATATATGGAATATATATATATGTGGAATATATATATATGGAATA TATATATGGAATATATATATATGGAATATATATATGGAATATATATACAT GGAATATATATATGGAATATATATACATGGAATATATATATGGAATATAT ATACATGGAATATATATATGGAATATATATACATGGAATATATATATATG GAATATATACATGGAATATATATATGGAATATATACATATGGAATATATA TATGGAATATATACATATGGAATATATATATGGAATATATACATATGGAA TATATATATGGAATATATACATATGGAATATATATATGGAATATATACAT ATGGAATATATATATGGAATATATACATATGGAATATATATATGGAATAT ATACATATGGAATATATATGGAATATATACGTATGGAATATATATATGGA ATATATACGTATGGAATATATATATGGAATATATACGTATGGAATATATA TATGGAATATATACGTATGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0200 a0002c0002t0002g0200	1	62	0.0161	719	c.-21 others(730): Show c.-2147_-2146insGGAATACATATATATGGAATACATATATATGGAA TACATATATGGAATACATATATATGGAATACACATATGGAATACATATAT ATGGAATACATATATGGAATACATATATATGGAATACATATATGGAATAC ATATATATGGAATACATATATGGAATACATATATATGGAATACATATATG GAATACATATATGTGGAATACATATATGGAATATATATATATGTGGAATA TATATATATGGAATATATATATGGAATATATATATATGGAATATATATAT GGAATATATATACATGGAATATATATATGGAATATATATACATGGAATAT ATATATGGAATATATATACATGGAATATATATATGGAATATATATACATG GAATATATATATATGGAATATATACATGGAATATATATATGGAATATATA CATATGGAATATATATATGGAATATATACATATGGAATATATATATGGAA TATATACATATGGAATATATATATGGAATATATACATATGGAATATATAT ATGGAATATATACATATGGAATATATATATGGAATATATACATATGGAAT ATATATATGGAATATATACATATGGAATATATATGGAATATATACGTATG GAATATATATATGGAATATATACGTATGGAATATATATATGGAATATATA CGTATGGAATATATATATGGAATATATACGTATGG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2060		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33323156	A A	ACGTATGG others(712): Show ACGTATGGAATATATATATGGAATATATACGTATGGAATATATATATGGA ATATATACGTATGGAATATATATATGGAATATATACGTATGGAATATATA TATATGGAATATACGTATGGAATATATATATATGGAATATACGTATGGAA TATATATATATGGAATATACGTATGGAATATATATATATGGAATATATAT GTATGGAATATATATATGGAATATATATGTATGGAATATATATATGGAAT ATATATGTATGGAATATATATGTATGGAATATATATGTATGGAATATATA TATGGAATATATATGTATGGAATATATATATGGAATATATGTATGGAATA TATATGTATGGAATATACGTATGGAATATATATGTATGGAATATACATAT GGAATATATATGTATGGAATATACATATGGAATATATATGTATGGAATAT ACATATATGGAATATATATGTATGGAATATATATATATGGAATATATATG TATGGAATATATATATGGAATATATGTATGGAATATATATATATGGAATA TATGTATGGAATATATATATATGGAATATATGTATGGAATATATATATAT GGAATATATGTATGGAATATATATATGGAATATATGTATATGGAATATAT ATATGGAATATATGTATATGGAATATATATATGGAATATATGTATATGGA ATATATATATGGAATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0001	1	312	0.0032	719	c.-19 others(730): Show c.-1900_-1899insCGTATGGAATATATATATGGAATATATACGTATG GAATATATATATGGAATATATACGTATGGAATATATATATGGAATATATA CGTATGGAATATATATATATGGAATATACGTATGGAATATATATATATGG AATATACGTATGGAATATATATATATGGAATATACGTATGGAATATATAT ATATGGAATATATATGTATGGAATATATATATGGAATATATATGTATGGA ATATATATATGGAATATATATGTATGGAATATATATGTATGGAATATATA TGTATGGAATATATATATGGAATATATATGTATGGAATATATATATGGAA TATATGTATGGAATATATATGTATGGAATATACGTATGGAATATATATGT ATGGAATATACATATGGAATATATATGTATGGAATATACATATGGAATAT ATATGTATGGAATATACATATATGGAATATATATGTATGGAATATATATA TATGGAATATATATGTATGGAATATATATATGGAATATATGTATGGAATA TATATATATGGAATATATGTATGGAATATATATATATGGAATATATGTAT GGAATATATATATATGGAATATATGTATGGAATATATATATGGAATATAT GTATATGGAATATATATATGGAATATATGTATATGGAATATATATATGGA ATATATGTATATGGAATATATATATGGAATATATG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		1813		chr21	TogoVar
KRT82_chr12_52388931_52411335	52409039	T T	TCCTCTCC others(712): Show TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCT CTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCC TCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCC CTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCC TCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCC CTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTC CCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCT CCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTC TCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCT CCTCTCCCTCTCCCTCCTCTCCCTGTCCCTCCTCTCCCTCTCCCTCTCCC TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCC CTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCT CTCCCTCACTCTCCCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0071 a0001c0001t0002g0071	1	77	0.0130	719	c.-27 others(730): Show c.-2763_-2762insGGAGAGGGAGAGTGAGGGAGAGGAGGGAGAGGGA GAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGA GGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGG GAGAGGAGGGACAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAG GAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGG AGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGG GAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAG GGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGA GGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAG AGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGA GAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGA GGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGG AGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGA GAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGG AGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGG	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		2705		chr12	TogoVar
LMF1_chr16_848634_975984	859664	C C	CGGGTGTG others(712): Show CGGGTGTGAGTCGTGTCACGGGACGGGTGTGCAGTGGTGTCTCGGGACGG GTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGT GTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGA GTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGAGTG ATGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGT CACGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCAC GGGACGGGTGCGAGTGGTGTCTCGGGACGGGTGCGAGTGGTGTCTCGGGA CGGGTGCGAGTGGTGTCACGGGACGGGTGCGAGTGGTGTCACGGGAGGGG TGCGAGTGGTGTCTCGGGACGGGTGCGAGTGGTGTCTCGGGACGGGTGCG AGTGGTGTCTCGGGACGGGTGCGAGTGGTGTCTCGGGACGGGTGCGAGTG GTGTCACGGGACGGGTGCGAGTGGTGTCTCGGGACGGGTGTGCGTGGTGT CTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCG GGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGGT GGGTGTGAGTGGTGTCTCGGGGTGGGTGTGAGTGGTGTCTCGGGGTGGGT GTGCAGTGGTGTCTCGGGAT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0284 a0001c0002t0001g0284	1	188	0.0053	719	c.153 others(738): Show c.1530-4959_1530-4958insATCCCGAGACACCACTGCACACCCAC CCCGAGACACCACTCACACCCACCCCGAGACACCACTCACACCCACCCCG TGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGAC ACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCA CGCACACCCGTCCCGAGACACCACTCGCACCCGTCCCGTGACACCACTCG CACCCGTCCCGAGACACCACTCGCACCCGTCCCGAGACACCACTCGCACC CGTCCCGAGACACCACTCGCACCCGTCCCGAGACACCACTCGCACCCCTC CCGTGACACCACTCGCACCCGTCCCGTGACACCACTCGCACCCGTCCCGA GACACCACTCGCACCCGTCCCGAGACACCACTCGCACCCGTCCCGTGACA CCACTGCACACCCGTCCCGTGACACCACTCACACCCGTCCCGTGACACCA CTCACACCCGTCCCGTGACACCACTCACACCCGTCCCGAGACATCACTCA CACCCGTCCCGTGACACCACTGCACACCCGTCCCGAGACACCACTCACAC CCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGT CCCGTGACACCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCC CGAGACACCACTGCACACCCGTCCCGTGACACGACTCACACCC	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	859736	C C	CGGGTGTG others(712): Show CGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGG TGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGT GAGTGATGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGT GGTGTCACGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGCAGTGGT GTCACGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGCGAGTGGTGTC TCGGGACGGGTGCGAGTGGTGTCTCGGGACGGGTGCGAGTGGTGTCACGG GACGGGTGCGAGTGGTGTCACGGGAGGTGTGCGAGTGGTGTCTCGGGACG GGTGCGAGTGGTGTCTCGGGACGGGTGCGAGTGGTGTCTCGGGACGGGTG CGAGTGGTGTCTCGGGACGGGTGTGCGTGGTGTCTCGGGACGGGTGTGCG TGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGG TGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTC TCGGGACGGGTGTGAGTGGTGTCTCGGGGTGGGTGTGAGTGGTGTCTCGG GGTGGGTGTGAGTGGTGTCTCGGGGTGGGTGTGAGTGGTGTCTCGGGGTG GGTGTGAGTGGTGTCTCGGGGTGGGTGTGCAGTGGTGTCTCGGGATGGGT GTGCAGTGGTGTCTCGGGGT	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01934.hp1 HG01952.hp1 HG01928.hp1 HG01934.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0005t0001g0114 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0005t0001g0114	3	34	0.0882	719	c.153 others(738): Show c.1530-5031_1530-5030insACCCCGAGACACCACTGCACACCCAT CCCGAGACACCACTGCACACCCACCCCGAGACACCACTCACACCCACCCC GAGACACCACTCACACCCACCCCGAGACACCACTCACACCCACCCCGAGA CACCACTCACACCCACCCCGAGACACCACTCACACCCGTCCCGAGACACC ACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTG CACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACGCACA CCCGTCCCGAGACACCACGCACACCCGTCCCGAGACACCACTCGCACCCG TCCCGAGACACCACTCGCACCCGTCCCGAGACACCACTCGCACCCGTCCC GAGACACCACTCGCACACCTCCCGTGACACCACTCGCACCCGTCCCGTGA CACCACTCGCACCCGTCCCGAGACACCACTCGCACCCGTCCCGAGACACC ACTCGCACCCGTCCCGTGACACCACTGCACACCCGTCCCGTGACACCACT GCACACCCGTCCCGTGACACCACTCACACCCGTCCCGTGACACCACTCAC ACCCGTCCCGTGACACCACTCACACCCGTCCCGAGACATCACTCACACCC GTCCCGTGACACCACTGCACACCCGTCCCGAGACACCACTCACACCCGTC CCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACCC	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
MAN2B2_chr4_6570189_6628362	6579111	T T	TCACCACC others(712): Show TCACCACCACCACCACCACCACCACCATCACCACCACCACCCTTCACCAC CACCACCACCACCACCACCATCACCACCACCACCCTTCACCACCATCACC ACCACCACCATCACCACCACCATCACCATCACCACCACCACCATCACCAC CATCACCATCACCACCACCACCACCATCACCACCACCACCACCACCACCA CCACCACCATCACCACCACCACCACCACCACCATCACCACCACCACCACC ACCATCACCACCATCACCACCACCACCATCACCACCACCACCACCACCAC CATCACCACCACCACCACCATCACCACCACCACCATCACCACCATCACCA CCACCACCACCACCACCATCACCACCACCACCACCACCACCATCACCACC ACCACCATCACCACCACCACCACCACCACCACCACCACCATCACCACCAC CACCATCACCACCACCATCACCATCACCACCACCACCATCACCACCATCA CCACCACCACCACCACCACCATCACCACCACCACCATCACCACCACCACC ACCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCAC CACCACCATCACCACCATCACCACCACCACCATCACCACCACCACCACCA CCATCACCACCATCACCACCACCACCATCACCACCACCACCACCACCACC ATCACCACCACCACCACCAC	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0238	1	327	0.0031	719	c.391 others(734): Show c.391+618_391+619insCCACCACCACCACCACCACCATCACCACCA CCACCCTTCACCACCACCACCACCACCACCACCATCACCACCACCACCCT TCACCACCATCACCACCACCACCATCACCACCACCATCACCATCACCACC ACCACCATCACCACCATCACCATCACCACCACCACCACCATCACCACCAC CACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCATCA CCACCACCACCACCACCATCACCACCATCACCACCACCACCATCACCACC ACCACCACCACCACCATCACCACCACCACCACCATCACCACCACCACCAT CACCACCATCACCACCACCACCACCACCACCATCACCACCACCACCACCA CCACCATCACCACCACCACCATCACCACCACCACCACCACCACCACCACC ACCATCACCACCACCACCATCACCACCACCATCACCATCACCACCACCAC CATCACCACCATCACCACCACCACCACCACCACCATCACCACCACCACCA TCACCACCACCACCACCACCACCACCACCACCACCACCATCACCACCACC ACCACCACCACCACCACCACCATCACCACCATCACCACCACCACCATCAC CACCACCACCACCACCATCACCACCATCACCACCACCACCATCACCACCA CCACCACCACCACCATCACCACCACCACCACCACCACCA	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
MED27_chr9_131855112_132084867	131964326	G G	GTGGTGCT others(712): Show GTGGTGCTGGTGATGGTGGTGGTGATGGTGGTGGGGGGTGGTGGTGGGGA TGGAGGTGGTGATGGTGATGGTGGTGGTGGAGGTGCTGGTGGTAGAGGTT ATGGTGGTGGTGGTGATGGTGGGGGTGGAGGTGGTGATAGTGGTGGTGGG GGTGGAGATGGTGATGGTAGTGGTGATGGTAGAGGTTATGGTGGTGGTGG TGATGGTGTTGGTAGAGGTGATGGTGATAGAGGTGATGGTGATGGTGGTG GTGGGGGTGATGGTGACAGGAGGTGGTGGCGATGATGGAAATGATGGTGG TAGTGAAGGTGATGGTGGTGGTGGTGATGGTAGTCGAGGTGATGGTGGTA GTGATGGTGGTGGTGGTGGAGGTGATGGTAGTGGAGGTGATGGTGGTGGA GATGATCATGATGGTGGTGGTGGTGATGGTGGAGGGTGTGGTGGTAGTGA AGGTGATGGTGGTGGTGGTAGAGGTGATGGTAATGGTGGAGGTGATGGTG GTGATGGTGGTAGTGAAAGTGATGGTGGTGATGGTGGAGGGTGTGGTGGT AGTGAAGGTGATGGTGGTGGTGGTGATGGCAGAGGGTGTGGTGGTAGTGA AGGTGATGGTGGTGGTGGTAGAGGTGATGGTAGAGGTGATGGTAATGGTG GAGGTGATGGTGGTGATGATGGTGGTAGTGAAAGTGATGGTGGTGATGGT TGAGGGTGTGGTGGTAGTGA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02630.hp2 HG02717.hp2 others(2): Show HG02622.hp2 HG02630.hp2 HG02717.hp2 NA18906.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0093 a0001c0001t0001g0097 a0001c0001t0001g0184 others(2): Show a0001c0001t0001g0093 a0001c0001t0001g0097 a0001c0001t0001g0184 a0001c0001t0001g0252 a0001c0001t0002g0091	5	113	0.0442	719	c.480 others(738): Show c.480-24853_480-24852insTCACTACCACCACACCCTCAACCATC ACCACCATCACTTTCACTACCACCATCATCACCACCATCACCTCCACCAT TACCATCACCTCTACCATCACCTCTACCACCACCACCATCACCTTCACTA CCACCACACCCTCTGCCATCACCACCACCACCATCACCTTCACTACCACC ACACCCTCCACCATCACCACCATCACTTTCACTACCACCATCACCACCAT CACCTCCACCATTACCATCACCTCTACCACCACCACCATCACCTTCACTA CCACCACACCCTCCACCATCACCACCACCACCATCATGATCATCTCCACC ACCATCACCTCCACTACCATCACCTCCACCACCACCACCATCACTACCAC CATCACCTCGACTACCATCACCACCACCACCATCACCTTCACTACCACCA TCATTTCCATCATCGCCACCACCTCCTGTCACCATCACCCCCACCACCAC CATCACCATCACCTCTATCACCATCACCTCTACCAACACCATCACCACCA CCACCATAACCTCTACCATCACCACTACCATCACCATCTCCACCCCCACC ACCACTATCACCACCTCCACCCCCACCATCACCACCACCACCATAACCTC TACCACCAGCACCTCCACCACCACCATCACCATCACCACCTCCATCCCCA CCACCACCCCCCACCACCATCACCACCACCATCACCAGCACCA	MED27	ENSG00000160563.14	transcript	ENST00000292035.10	protein_coding	3/7			chr9	TogoVar
MFRP_chr11_119333942_119351705	119351510	C C	CCTCCTCT others(712): Show CCTCCTCTCTCCTCCTCTGTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCC CCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCC CCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCTCTCTCCTCCCCTCC CCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTCC CCTCCCCTCTCTCCTCCGCTCCGCTCCCCTCTCCTCCACTCCTCTCCCCT CCCTTCCCCTCTCCTCCCCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCT CCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCTCTCCTCCGCTCCC CTCCCCTCTCCTCCGCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCT CTCTCCTCCCCTCCCCTCTCCTCCGCTCCTCTCCCCTCCCTTCCCCTCTC CTCCCCTCCTCTCTCCTCCCCTCCCCTCTCCTCTGCTCCTCTCCCCTCCC TTCCCCTCTCCTCCCCTCCTCTCTCCTCCCCTCCCCTCTCCTCCGCTCCC CTCCCCTCTCCTCCACTCCTCTCCCCTCCCCTCCTCTCTCCTCCACTCCT CTCCCCTCCTCTCCTCTCTCCTCCCCTCCCCTCTCCTCCCCTCCCCACCC CTCCCCTCCCCTCCTTTCTCCTCCCCTCCCCACGGCTCCCCTCCCCTCCT TTCTCCTCCCTTGCCGTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp2 NA19043.hp1 NA18522.hp2 NA19043.hp1	a0006 a0006	a0006c0015 a0006c0015	a0006c0015t0002 a0006c0015t0002	a0006c0015t0002g0217 a0006c0015t0002g0218 a0006c0015t0002g0217 a0006c0015t0002g0218	2	126	0.0159	719	c.-49 others(730): Show c.-4998_-4997insAGGACGGCAAGGGAGGAGAAAGGAGGGGAGGGGA GCCGTGGGGAGGGGAGGAGAAAGGAGGGGAGGGGAGGGGTGGGGAGGGGA GGAGAGGGGAGGGGAGGAGAGAGGAGAGGAGGGGAGAGGAGTGGAGGAGA GAGGAGGGGAGGGGAGAGGAGTGGAGGAGAGGGGAGGGGAGCGGAGGAGA GGGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGA GCAGAGGAGAGGGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGA GGGGAGAGGAGCGGAGGAGAGGGGAGGGGAGGAGAGAGGAGGGGAGGAGA GGGGAAGGGAGGGGAGAGGAGCGGAGGAGAGGGGAGGGGAGCGGAGGAGA GAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGGG GAAGGGAGGGGAGAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGTG GAGGAGAGGGGAGCGGAGCGGAGGAGAGAGGGGAGGGGAGGGGAGGAGAG AGGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAG AGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGAG GGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGAG GGGAGGGGAGGGGAGGACAGAGGAGGAGAGAGGAG	MFRP	ENSG00000235718.9	transcript	ENST00000619721.6	protein_coding		4806		chr11	TogoVar
MOCS1_chr6_39899170_39939462	39926745	G G	GGGAAGGG others(712): Show GGGAAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGG GAAGGAGGAAGGCGGAAAGGGGGAGGGGAGAAGGGGAGGGGCAGGGGGAG GGGGAAAAGGGGCGGGGAAGGGGGGGAAAAGGGGCGGGGGGGAAGGGGGA AAGGGGTGGGGGGAAGGGGGGGGAAGGGGAAAGGGGTGAGGGGAAGGGGG GAAGGGGGAAAGGGGGTGAGGGGAGGATGGAGGGGGAGGGGGAGGGAGGG GAGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGG GGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGG GGGAGGGGAGGGGGGGGAGGGGAGGGGGGGAGGGGAGGGGGGAGGGGGGG GAGGGGAGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGGGGA GGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGGGAGGGGAGGGGGGGAG GGGGAGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGAAGGGAGGGAGGGGG AGGGGGAGGGAAGGGAGGGAGGGGAGGGGGAGGGAGGGGGAGGGGAGTGG AGGGGGAGGGGGAGGGAGGAGGGATGGGAGTGGAGGGGGAGGGGGAGGGA GGGGAGGGGAGGGGGAGGGGGAGGGAAGGGAGGGAGGGGGAGGGGGAGGG AGGGGAGGGGAAGGGAGGGT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0179 a0002c0002t0002g0179	1	213	0.0047	719	c.250 others(734): Show c.250+583_250+584insACCCTCCCTTCCCCTCCCCTCCCTCCCCCT CCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCTCCCCC TCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCACTCCCCT CCCCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCT CCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCCCT CCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCCTC CCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCCCCTCC CCCCTCCCCTCCCCCCCTCCCCTCCCCCCCCTCCCCTCCCCCTCCCCCTC CCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTC CCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCTCC CCCTCCCCCTCCATCCTCCCCTCACCCCCTTTCCCCCTTCCCCCCTTCCC CTCACCCCTTTCCCCTTCCCCCCCCTTCCCCCCACCCCTTTCCCCCTTCC CCCCCGCCCCTTTTCCCCCCCTTCCCCGCCCCTTTTCCCCCTCCCCCTGC CCCTCCCCTTCTCCCCTCCCCCTTTCCGCCTTCCTCCTTCCCCCTCCTTC CCCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCCTTCC	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MOGAT3_chr7_101190007_101206036	101191958	G G	GGGAGGCC others(712): Show GGGAGGCCAAGGCAGGTAGATCGCTTGAGGCCAGGAATTAGAGACCAGCC TGGCCAACATGGTGAAACCCCATCTCCACAAAAAATACCAAAATTATCTG GGTGTGGTGGCACATCCCTGTAGTCCCAGCTACTCGGGAGGCTGAGAGGC TGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCCGTGAGCCG AGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCCAGACTCCGTCTT AAAAAAAAAGAACCCATGGATTGAAACATGTTTAATGTGTTTCAATCCAA TGCAGTTGCCTTTTTTTTTTTTTTTTTCAGACGGAGGCTCGCTCTGTCGC CAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCC CGGGTTCAAGCAATTCTCTTGCTTCAGCCTTCCGAGTAGCTGAGACTACA GGCGCACACCACCACACCCAGCTGATTTTTGTATTTTTAGTAGAGACGGG GTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTCGTGATCCG CCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATCGCGC CCAGCCTGCTGTTGCCTTTCTTACTGATGCTCAAGTTATTTAATTTTTGG ATAAATTGCTGTTTTAAAGCAATACAGAGGGCCAGGTGCGGTGGCTCACA CCTGTAATCCCAGCACTTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	295	0.0034	719	c.39 others(730): Show c.3987_*3988insTAAAGTGCTGGGATTACAGGTGTGAGCCACCGCA CCTGGCCCTCTGTATTGCTTTAAAACAGCAATTTATCCAAAAATTAAATA ACTTGAGCATCAGTAAGAAAGGCAACAGCAGGCTGGGCGCGATGGCTCAC ACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACGAGGTC AAGAGATCGAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTACTAA AAATACAAAAATCAGCTGGGTGTGGTGGTGTGCGCCTGTAGTCTCAGCTA CTCGGAAGGCTGAAGCAAGAGAATTGCTTGAACCCGGGAGGCGGAGGTTG CAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGCGACAGAGCGAGC CTCCGTCTGAAAAAAAAAAAAAAAAAGGCAACTGCATTGGATTGAAACAC ATTAAACATGTTTCAATCCATGGGTTCTTTTTTTTTAAGACGGAGTCTGG CTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACGGCAAC CTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCTCAGCCTCC CGAGTAGCTGGGACTACAGGGATGTGCCACCACACCCAGATAATTTTGGT ATTTTTTGTGGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCTAAT TCCTGGCCTCAAGCGATCTACCTGCCTTGGCCTCC	MOGAT3	ENSG00000106384.12	transcript	ENST00000223114.9	protein_coding		3048		chr7	TogoVar
MOGAT3_chr7_101190007_101206036	101191958	G G	GGGAGGCC others(712): Show GGGAGGCCAAGGCAGGTAGATCGCTTGAGGCCAGGAATTAGAGACCAGCC TGGCCAACATGGTGAAACCCCATCTCCACAAAAAATACCAAAATTATCTG GGTGTGGTGGCACATCCCTGTAGTCCCAGCTACTCGGGAGGCTGAGAGGC TGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCCGTGAGCCG AGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCCAGACTCCGTCTT AAAAAAAAAGAACCCATGGATTGAAACATGTTTAATGTGTTTCAATCCAA TGCAGTTGCCTTTTTTTTTTTTTTTTTCAGACGGAGTCTCGCTCTGTCGC CAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCC CAGGTTCAAGCAATTCTCTTGCTTCAGCCTTCCGAGTAGCTGAGACTACA GGCGCACACCACCACACCCAGCTGATTTTTGTATTTTTAGTAGAGACGGG GTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTCGTGATCCG CCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATCGCGC CCAGCCTGCTGTTGCCTTTCTTACTGATGCTCAAGTTATTTAATTTTTGG ATAAATTGCTGTTTTAAAGCAATACAGAGGGCCAGGTGCGGTGGCTCACA CCTGTAATCCCAGCACTTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	295	0.0034	719	c.39 others(730): Show c.3987_*3988insTAAAGTGCTGGGATTACAGGTGTGAGCCACCGCA CCTGGCCCTCTGTATTGCTTTAAAACAGCAATTTATCCAAAAATTAAATA ACTTGAGCATCAGTAAGAAAGGCAACAGCAGGCTGGGCGCGATGGCTCAC ACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACGAGGTC AAGAGATCGAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTACTAA AAATACAAAAATCAGCTGGGTGTGGTGGTGTGCGCCTGTAGTCTCAGCTA CTCGGAAGGCTGAAGCAAGAGAATTGCTTGAACCTGGGAGGCGGAGGTTG CAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGCGACAGAGCGAGA CTCCGTCTGAAAAAAAAAAAAAAAAAGGCAACTGCATTGGATTGAAACAC ATTAAACATGTTTCAATCCATGGGTTCTTTTTTTTTAAGACGGAGTCTGG CTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACGGCAAC CTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCTCAGCCTCC CGAGTAGCTGGGACTACAGGGATGTGCCACCACACCCAGATAATTTTGGT ATTTTTTGTGGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCTAAT TCCTGGCCTCAAGCGATCTACCTGCCTTGGCCTCC	MOGAT3	ENSG00000106384.12	transcript	ENST00000223114.9	protein_coding		3048		chr7	TogoVar
MOGAT3_chr7_101190007_101206036	101191958	G G	GGGAGGCC others(712): Show GGGAGGCCAAGGCAGGTAGATCGCTTGAGGCCAGGAATTAGAGACCAGCC TGGCCAACATGGTGAAACCCCATCTCCACAAAAAATACCAAAATTATCTG GGTGTGGTGGCACATCCCTGTAGTCCCAGCTACTCGGGAGGCTGAGAGGC TGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCCGTGAGCCG AGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCCAGACTCCGTCTT AAAAAAAAAGAACCCATGGATTGAAACATGTTTAATGTGTTTCAATCCAA TGCAGTTGCCTTTTTTTTTTTTTTTTTCAGACGGAGTCTCGCTCTGTCGC CAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCC CGGGTTCAAGCAATTCTCTTGCTTCAGCCTTCCGAGTAGCTGAGACTACA GGCGCACACCACCACACCCAGCTGATTTTTGTATTTTTAGTAGAGACGGG GTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTCGTGATCCA CCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATCGCGC CCAGCCTGCTGTTGCCTTTCTTACTGATGCTCAAGTTATTTAATTTTTGG ATAAATTGCTGTTTTAAAGCAATACAGAGGGCCAGGTGCGGTGGCTCACA CCTGTAATCCCAGCACTTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 HG03579.hp1 HG02818.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0031 a0001c0001t0006g0031	2	296	0.0068	719	c.39 others(730): Show c.3987_*3988insTAAAGTGCTGGGATTACAGGTGTGAGCCACCGCA CCTGGCCCTCTGTATTGCTTTAAAACAGCAATTTATCCAAAAATTAAATA ACTTGAGCATCAGTAAGAAAGGCAACAGCAGGCTGGGCGCGATGGCTCAC ACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACGAGGTC AAGAGATCGAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTACTAA AAATACAAAAATCAGCTGGGTGTGGTGGTGTGCGCCTGTAGTCTCAGCTA CTCGGAAGGCTGAAGCAAGAGAATTGCTTGAACCCGGGAGGCGGAGGTTG CAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGCGACAGAGCGAGA CTCCGTCTGAAAAAAAAAAAAAAAAAGGCAACTGCATTGGATTGAAACAC ATTAAACATGTTTCAATCCATGGGTTCTTTTTTTTTAAGACGGAGTCTGG CTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACGGCAAC CTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCTCAGCCTCC CGAGTAGCTGGGACTACAGGGATGTGCCACCACACCCAGATAATTTTGGT ATTTTTTGTGGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCTAAT TCCTGGCCTCAAGCGATCTACCTGCCTTGGCCTCC	MOGAT3	ENSG00000106384.12	transcript	ENST00000223114.9	protein_coding		3048		chr7	TogoVar
MOGAT3_chr7_101190007_101206036	101191958	G G	GGGAGGCC others(712): Show GGGAGGCCAAGGCAGGTAGATCGCTTGAGGCCAGGAATTAGAGACCAGCC TGGCCAACATGGTGAAACCCCATCTCCACAAAAAATACCAAAATTATCTG GGTGTGGTGGCACATCCCTGTAGTCCCAGCTACTCGGGAGGCTGAGAGGC TGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCCGTGAGCCG AGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCCAGACTCCGTCTT AAAAAAAAAGAACCCATGGATTGAAACATGTTTAGTGTGTTTCAATCCAA TGCAGTTGCCTTTTTTTTTTTTTTTTTCAGACGGAGTCTCGCTCTGTCGC CAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCC CGGGTTCAAGCAATTCTCTTGCTTCAGCCTTCCGAGTAGCTGAGACTACA GGCGCACACCACCACACCCAGCTGATTTTTGTATTTTTAGTAGAGACGGG GTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTCGTGATCCG CCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATCGCGC CCAGCCTGCTGTTGCCTTTCTTACTGATGCTCAAGTTATTTAATTTTTGG ATAAATTGCTGTTTTAAAGCAATACAGAGGGCCAGGTGCGGTGGCTCACA CCTGTAATCCCAGCACTTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02723.hp2 HG02886.hp1 others(5): Show HG02257.hp2 HG02723.hp2 HG02886.hp1 HG03139.hp2 HG03225.hp1 HG03579.hp2 NA18522.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0017 a0001c0001t0005 a0001c0001t0017	a0001c0001t0005g0016 a0001c0001t0005g0049 a0001c0001t0005g0051 others(1): Show a0001c0001t0005g0016 a0001c0001t0005g0049 a0001c0001t0005g0051 a0001c0001t0017g0052	8	302	0.0265	719	c.39 others(730): Show c.3987_*3988insTAAAGTGCTGGGATTACAGGTGTGAGCCACCGCA CCTGGCCCTCTGTATTGCTTTAAAACAGCAATTTATCCAAAAATTAAATA ACTTGAGCATCAGTAAGAAAGGCAACAGCAGGCTGGGCGCGATGGCTCAC ACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACGAGGTC AAGAGATCGAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTACTAA AAATACAAAAATCAGCTGGGTGTGGTGGTGTGCGCCTGTAGTCTCAGCTA CTCGGAAGGCTGAAGCAAGAGAATTGCTTGAACCCGGGAGGCGGAGGTTG CAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGCGACAGAGCGAGA CTCCGTCTGAAAAAAAAAAAAAAAAAGGCAACTGCATTGGATTGAAACAC ACTAAACATGTTTCAATCCATGGGTTCTTTTTTTTTAAGACGGAGTCTGG CTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACGGCAAC CTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCTCAGCCTCC CGAGTAGCTGGGACTACAGGGATGTGCCACCACACCCAGATAATTTTGGT ATTTTTTGTGGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCTAAT TCCTGGCCTCAAGCGATCTACCTGCCTTGGCCTCC	MOGAT3	ENSG00000106384.12	transcript	ENST00000223114.9	protein_coding		3048		chr7	TogoVar
MOGAT3_chr7_101190007_101206036	101191958	G G	GGGAGGCC others(712): Show GGGAGGCCAAGGCAGGTAGATCGCTTGAGGCCAGGAATTAGAGACCAGCC TGGCCAACATGGTGAAACCCCATCTCCACAAAAAATACCAAAATTATCTG GGTGTGGTGGCACATCCCTGTGGTCCCAGCTACTCGGGAGGCTGAGAGGC TGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCCGTGAGCCG AGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCCAGACTCCGTCTT AAAAAAAAAGAACCCATGGATTGAAACATGTTTAATGTGTTTCAATCCAA TGCAGTTGCCTTTTTTTTTTTTTTTTTCAGACGGAGTCTCGCTCTGTCGC CAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCC CGGGTTCAAGCAATTCTCTTGCTTCAGCCTTCCGAGTAGCTGAGACTACA GGCGCACACCACCACACCCAGCTGATTTTTGTATTTTTAGTAGAGACGGG GTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTCGTGATCCG CCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATCGCGC CCAGCCTGCTGTTGCCTTTCTTACTGATGCTCAAGTTATTTAATTTTTGG ATAAATTGCTGTTTTAAAGCAATACAGAGGGCCAGGTGCGGTGGCTCACA CCTGTAATCCCAGCACTTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	295	0.0034	719	c.39 others(730): Show c.3987_*3988insTAAAGTGCTGGGATTACAGGTGTGAGCCACCGCA CCTGGCCCTCTGTATTGCTTTAAAACAGCAATTTATCCAAAAATTAAATA ACTTGAGCATCAGTAAGAAAGGCAACAGCAGGCTGGGCGCGATGGCTCAC ACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACGAGGTC AAGAGATCGAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTACTAA AAATACAAAAATCAGCTGGGTGTGGTGGTGTGCGCCTGTAGTCTCAGCTA CTCGGAAGGCTGAAGCAAGAGAATTGCTTGAACCCGGGAGGCGGAGGTTG CAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGCGACAGAGCGAGA CTCCGTCTGAAAAAAAAAAAAAAAAAGGCAACTGCATTGGATTGAAACAC ATTAAACATGTTTCAATCCATGGGTTCTTTTTTTTTAAGACGGAGTCTGG CTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACGGCAAC CTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCTCAGCCTCC CGAGTAGCTGGGACCACAGGGATGTGCCACCACACCCAGATAATTTTGGT ATTTTTTGTGGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCTAAT TCCTGGCCTCAAGCGATCTACCTGCCTTGGCCTCC	MOGAT3	ENSG00000106384.12	transcript	ENST00000223114.9	protein_coding		3048		chr7	TogoVar
PDCD6_chr5_266646_319974	318239	A A	AACCCTGC others(712): Show AACCCTGCACCTCCCCCAATCCTTCACCTCCCCCCTCCCTTCATCTCCCC CCTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCACC TCCCGCCCTCACCCTGCACCTCCCCCCATCCTTTACCTCCCCCCACCCTC CATCTGCCCCCAACCCTGCACCTCCCCCAATCCTTCACCTCCCCCCTCCC TTCATCTCCCCCCTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCCCT CCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCATCCTTTACCTC CCCCCACCCTCCATCTGCCCCCAACCCTGCACCTCCCCCAATCCTTCACC TCCCCCCTCCCTTCATCTCCCCCCTCACCCTCCACCTCCCCCCCACCCTG CACCTCCCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCA TCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCACCTCCCCC AATCCTTCACCTCCCCCCTCCCTTCATCTCCCCCCTCACCCTCCACCTCC CCCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCTCCCCATCTTT TACCTCCCCCCACCCTGCATCTCCCCCAACCCTGCACCTCCCCCATCCTT CACCTCCCCCACTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCCCTC CCCCTGCACCTCCCGCCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0141 a0001c0002t0001g0141	1	332	0.0030	719	c.37 others(730): Show c.3724_*3725insACCCTGCACCTCCCCCAATCCTTCACCTCCCCCC TCCCTTCATCTCCCCCCTCACCCTCCACCTCCCCCCCACCCTGCACCTCC CCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCATCCTTTA CCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCACCTCCCCCAATCCTT CACCTCCCCCCTCCCTTCATCTCCCCCCTCACCCTCCACCTCCCCCCCAC CCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCC CCCATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCACCTC CCCCAATCCTTCACCTCCCCCCTCCCTTCATCTCCCCCCTCACCCTCCAC CTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCTCACC CTGCACCTCCCCCCATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAA CCCTGCACCTCCCCCAATCCTTCACCTCCCCCCTCCCTTCATCTCCCCCC TCACCCTCCACCTCCCCCCCGCACCCTGCACCTCCCACCCTTACCCTGCA CCTCTCCCCATCTTTTACCTCCCCCCACCCTGCATCTCCCCCAACCCTGC ACCTCCCCCATCCTTCACCTCCCCCACTCACCCTCCACCTCCCCCCCACC CTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCTC	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3266		chr5	TogoVar
PKP3_chr11_389209_409908	401878	G G	GGCCCGCT others(712): Show GGCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCC CGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGC TCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCA CACCCGACCCGCTCACCCCCGGCCCCGCTCACCCCGGCCCCGCTCACACC CGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCGCTCACACCCGCCC CGCTCACACCCGGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGC TCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCGGCCCCGCTCA CACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCCGCTCACAC CCGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACACCCGCC CCGCTCACACCCGGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCG CTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCGGCCCCGCTC ACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCCGCTCACA CCCGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGG CCCCGCTCACACCCGCCCCGCTCACCCCCAGCCCCGCTCACACCTGCCCC GCTCACCCCCGGCCCCGCTC	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0152 a0001c0003t0001g0152	1	175	0.0057	719	c.173 others(738): Show c.1737+1173_1737+1174insGCCCGCTCACACCCGCCCCGCTCACC CCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCC GCCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCCGCTCACACCCGCC CCGCTCACACCCGGCCCCGCTCACACCCGACCCGCTCACCCCCGGCCCCG CTCACCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCAC CCCCGGCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACCCCC GGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCC CCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCG CTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCA CACCCGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACCCC CGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGC CCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCC GCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTC ACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACCC CCAGCCCCGCTCACACCTGCCCCGCTCACCCCCGGCCCCGCTC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12			chr11	TogoVar
PXDN_chr2_1626887_1749515	1703572	A A	ACAACTCC others(712): Show ACAACTCCAGGTGAAGGGAGGGCAACTCCAGGTGAAGGGGGGCAACTCCA GGTGAAGGGGGGACAACTCCAGGTGAAGGGGGGACAGCTCCAGGTGAAGG GGGGACAGCTCCAGGTGAAGGAGGGACAACTCCAGGTGAAGCGGGGGACA ACTCCAGGTGAAAGAGGGACAACTCCAGGTGAAGGGGGGGCAACTCCTGG TGAAGGGGGGGCAACTCCAGGTGAAGGTAGGGGACAACTCCAGGTGAAGG GGGGCAACTCCAGGTGAAGGGGGGGGCAACTCCAGGTGAAGGAGGGCAAC TCCAGGTGAAGGTAGGGGACAACTCCAGGTGAAGGGGGGCAACTCCAGGT GAAGGGAGGGCAACTCCAGGTGAAGGGGGGGACAGCTCCAGGTGAAGTGG GGGACAGCTCCAGGTGAAGGAGGGACAACTCCAGGTGAAGGAGGGACAAC TCCAGGTGAAGCGGGGGACAACTCCCGGTGAAGGAGAGACAACTCCAGGT GAAGGGGGGGCAACTCCAGGTGAAGGGGGGGCAACTCCAGGTGAAGGGGG GGCAACTCCAGGTGAAGGGGGGACAACTCCAGGTGAAGGGGGGGCAGCTC CAGGTGAAGGGGGGGCAGCTCCAGGTGAAGGTGGGGCAACTCCAGGTGAA GGGGGGGCAACTCCAGGTGAAGGGGGGACAACTCCAGGTGAAGGGGGGAC AACTCCAGGTGAAGGGGGGG	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0004 a0001c0006t0004	a0001c0006t0004g0284 a0001c0006t0004g0284	1	287	0.0035	719	c.201 others(738): Show c.201-10439_201-10438insCCCCCCCTTCACCTGGAGTTGTCCCC CCTTCACCTGGAGTTGTCCCCCCTTCACCTGGAGTTGCCCCCCCTTCACC TGGAGTTGCCCCACCTTCACCTGGAGCTGCCCCCCCTTCACCTGGAGCTG CCCCCCCTTCACCTGGAGTTGTCCCCCCTTCACCTGGAGTTGCCCCCCCT TCACCTGGAGTTGCCCCCCCTTCACCTGGAGTTGCCCCCCCTTCACCTGG AGTTGTCTCTCCTTCACCGGGAGTTGTCCCCCGCTTCACCTGGAGTTGTC CCTCCTTCACCTGGAGTTGTCCCTCCTTCACCTGGAGCTGTCCCCCACTT CACCTGGAGCTGTCCCCCCCTTCACCTGGAGTTGCCCTCCCTTCACCTGG AGTTGCCCCCCTTCACCTGGAGTTGTCCCCTACCTTCACCTGGAGTTGCC CTCCTTCACCTGGAGTTGCCCCCCCCTTCACCTGGAGTTGCCCCCCTTCA CCTGGAGTTGTCCCCTACCTTCACCTGGAGTTGCCCCCCCTTCACCAGGA GTTGCCCCCCCTTCACCTGGAGTTGTCCCTCTTTCACCTGGAGTTGTCCC CCGCTTCACCTGGAGTTGTCCCTCCTTCACCTGGAGCTGTCCCCCCTTCA CCTGGAGCTGTCCCCCCTTCACCTGGAGTTGTCCCCCCTTCACCTGGAGT TGCCCCCCTTCACCTGGAGTTGCCCTCCCTTCACCTGGAGTTG	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
RAB11FIP3_chr16_420649_528011	492507	C C	CCCAGAGC others(712): Show CCCAGAGCCCTTCCCGGGAGACCCGAGGCCGTCCGTCCAGGGCCCTTCCC GGGAGACCCGAGGCCGTCCGTCCAGGGCCCTTCCCGGGAGACCCGAGGCC GTCCGTCCAGGGCCCTTCCCGGGAGACCCGAGGCCGTCCGTCCAGGGCCC TTCCCGGGAGACCCGAGGCCGTCCGTCCAGGGCCCTCCCGGGAGACCCGA GGCCGTCCGTCCAGGGCCCTCCCGGGAGACCCGAGGCCGTCCGTCCAGGG CCCTCCCGGGAGACCCGAGGCCGTCCGTCCAGGGCCCTCCCGGGAGACCC GAGGCCGTCCGTCCAGGGCCCTCCCGGGAGACCCGAGGCCGTCCGTCCAG GGCCCTCCCGGGAGACCCGAGGCCGTCCGTCCAGGGCCCTCCCGGGAGAC CCGAGGCCGTCCGTCCAGGGCCCTCCCGGGAGACCCGAGGCCGTCCGTCC AGGGCCCTCCCGGGAGACCCGAGGCCGTCCGTCCAGGGCCCTCCCGGGAG ACCCGAGGCCGTCCGTCCAGGGCCCTCCCGGGAGACCCGAGGCCGTCCGT CCAGGGCCCTCCCGGGAGACCCGAGGCCGTCCGTCCAGGGCCCTCCCGGG AGACCCGAGGCCGTCCGTCCAGGGCCCTCCCGGGAGACCCGAGGCCGTCC GTCCAGGGCCCTCCCGGGAGACCCGAGGCCGTCCGTCCAGGGCCCTCCCG GGAGACCCGAGGCCGTCCGT	intron_variant intron_variant	MODIFIER	HG01243.hp1 NA18522.hp2 HG01243.hp1 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0039 a0001c0002t0009 a0001c0002t0039	a0001c0002t0009g0040 a0001c0002t0039g0037 a0001c0002t0009g0040 a0001c0002t0039g0037	2	127	0.0157	719	c.126 others(738): Show c.1265+3511_1265+3512insAGCCCTTCCCGGGAGACCCGAGGCCG TCCGTCCAGGGCCCTTCCCGGGAGACCCGAGGCCGTCCGTCCAGGGCCCT TCCCGGGAGACCCGAGGCCGTCCGTCCAGGGCCCTTCCCGGGAGACCCGA GGCCGTCCGTCCAGGGCCCTTCCCGGGAGACCCGAGGCCGTCCGTCCAGG GCCCTCCCGGGAGACCCGAGGCCGTCCGTCCAGGGCCCTCCCGGGAGACC CGAGGCCGTCCGTCCAGGGCCCTCCCGGGAGACCCGAGGCCGTCCGTCCA GGGCCCTCCCGGGAGACCCGAGGCCGTCCGTCCAGGGCCCTCCCGGGAGA CCCGAGGCCGTCCGTCCAGGGCCCTCCCGGGAGACCCGAGGCCGTCCGTC CAGGGCCCTCCCGGGAGACCCGAGGCCGTCCGTCCAGGGCCCTCCCGGGA GACCCGAGGCCGTCCGTCCAGGGCCCTCCCGGGAGACCCGAGGCCGTCCG TCCAGGGCCCTCCCGGGAGACCCGAGGCCGTCCGTCCAGGGCCCTCCCGG GAGACCCGAGGCCGTCCGTCCAGGGCCCTCCCGGGAGACCCGAGGCCGTC CGTCCAGGGCCCTCCCGGGAGACCCGAGGCCGTCCGTCCAGGGCCCTCCC GGGAGACCCGAGGCCGTCCGTCCAGGGCCCTCCCGGGAGACCCGAGGCCG TCCGTCCAGGGCCCTCCCGGGAGACCCGAGGCCGTCCGTCCAG	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX3_chr17_79084345_79616051	79555282	A A	AGTGGTGG others(712): Show AGTGGTGGTGATGGTGGTGATGATGGTGGTGGTATTGATGGAGATGATGA TGACAGTGATAATGGTGGTGGTGGTAATGGTGATTATATGTCAGTGATGG TGGTGGTGGTGGTGATGGTGATGATAGTCATGATGGTGGTGATAGTGATG GCAATGGTGATGATGGCAGTGATGGTGATTATGAGAGTAGTGATGGTGGT GATGGCGATGGTAATGGTGATAATGGCGATGATGGTGGTGATGGTGATGA TGATAGTAATGATGGTGGTGATGGCAGTGGTGGTGGTAACGGTGGTGATA ATAGTGATAATGGTGGTGACGGCAGTGGTGGTGGTGGTAATGGTGATCAT GTCAGTGATGGTGGTGGTGGTGATGATAGTAATGATGGTGGTGATGGTGG TGGCAATGGTGATGATGGCAGTGATGGCGGTGAGGGTGATTATGATAGTA GTGATGGTGATGGCAATGGTAATGGTGATAATGGCGATGATGGTGGTGAT GGCAGTGGTGGTGGTAACGGTGGTGATAATAGTGATAATGGTGGTGACGG CAGTGGTGGTGGTGATGGTGGTGATGATGGTAGTTGTGGTGGTGGTGATG GTGGTGATGATGGTAGTTGTGGTGGTGGTGATGGTGGTGATGATGGTAGT TGTGGTGGTGGTGATGGTGGTGATGATGGTAGTTGTGGTGGTGGTGATGG TGGTGATGATGGTAGTTGTG	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0105 a0001c0001t0004g0105	1	136	0.0074	719	c.-32 others(740): Show c.-320+55543_-320+55544insCACAACTACCATCATCACCACCAT CACCACCACCACAACTACCATCATCACCACCATCACCACCACCACAACTA CCATCATCACCACCATCACCACCACCACAACTACCATCATCACCACCATC ACCACCACCACAACTACCATCATCACCACCATCACCACCACCACTGCCGT CACCACCATTATCACTATTATCACCACCGTTACCACCACCACTGCCATCA CCACCATCATCGCCATTATCACCATTACCATTGCCATCACCATCACTACT ATCATAATCACCCTCACCGCCATCACTGCCATCATCACCATTGCCACCAC CATCACCACCATCATTACTATCATCACCACCACCACCATCACTGACATGA TCACCATTACCACCACCACCACTGCCGTCACCACCATTATCACTATTATC ACCACCGTTACCACCACCACTGCCATCACCACCATCATTACTATCATCAT CACCATCACCACCATCATCGCCATTATCACCATTACCATCGCCATCACCA CCATCACTACTCTCATAATCACCATCACTGCCATCATCACCATTGCCATC ACTATCACCACCATCATGACTATCATCACCATCACCACCACCACCACCAT CACTGACATATAATCACCATTACCACCACCACCATTATCACTGTCATCAT CATCTCCATCAATACCACCACCATCATCACCACCATCACCACCAC	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
SEPTIN9_chr17_77276499_77505593	77356670	C C	CCCCCTCC others(712): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTACCTCCTCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTTCCCT CCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCC TCCCCACCCCTTCCCCCTCCCCCCCTCCCCACCCCCTCCCCCTCCCCCTC CCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCACCCCTT CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCC CTCCCCTCCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCT CCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCC CCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCC TCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCT CCCCATCCCCTCCCCTCCCCCCTCCCCACCCCCTCCCCTCCCCTCCCCCC TCCCCTTCCCCCTCCCCCCTCCCCTTCCCCCTCCCCCCTCCCCTCCCCCT CCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTC CCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCTCCCC CTCCCCTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0022 a0002c0004t0022	a0002c0004t0022g0007 a0002c0004t0022g0007	1	40	0.0250	719	c.77- others(736): Show c.77-45374_77-45373insTCCCCTCCCCTCCCCTCCCCTACCTCCT CCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCC TTCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCCCTCCCCACCCCTTCCCCCTCCCCCCCTCCCCACCCCCTCCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCA CCCCTTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCCCCCTCCCCTCCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCT CCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCC CCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCT CCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCC TCCCCTCCCCATCCCCTCCCCTCCCCCCTCCCCACCCCCTCCCCTCCCCT CCCCCCTCCCCTTCCCCCTCCCCCCTCCCCTTCCCCCTCCCCCCTCCCCT CCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCAC CCCTTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCC CTCCCCCTCCCCTCCCCCTTTCCCTTCCCCTCCCCTCCCCC	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(712): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTACCTCCTCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTTCCCT CCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCC TCCCCACCCCTTCCCCCTCCCCCCCTCCCCACCCCCTCCCCCTCCCCCTC CCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCACCCCTT CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCC CTCCCCTCCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCT CCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCC CCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCC TCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCT CCCCATCCCCTCCCCTCCCCCCTCCCCACCCCCTCCCCTCCCCTCCCCCC TCCCCTTCCCCCTCCCCCCTCCCCTTCCCCCTCCCCCCTCCCCTCCCCCT CCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTC CCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCTCCCC CTCCCCTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	HG03139.hp2 NA18906.hp2 HG03139.hp2 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0007 a0002c0005t0011 a0001c0001t0007 a0002c0005t0011	a0001c0001t0007g0130 a0002c0005t0011g0129 a0001c0001t0007g0130 a0002c0005t0011g0129	2	46	0.0435	719	c.22+ others(736): Show c.22+36337_22+36338insTCCCCTCCCCTCCCCTCCCCTACCTCCT CCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCC TTCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCCCTCCCCACCCCTTCCCCCTCCCCCCCTCCCCACCCCCTCCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCA CCCCTTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCCCCCTCCCCTCCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCT CCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCC CCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCT CCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCC TCCCCTCCCCATCCCCTCCCCTCCCCCCTCCCCACCCCCTCCCCTCCCCT CCCCCCTCCCCTTCCCCCTCCCCCCTCCCCTTCCCCCTCCCCCCTCCCCT CCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCAC CCCTTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCC CTCCCCCTCCCCTCCCCCTTTCCCTTCCCCTCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SHOX_chrX_625791_656584	625878	T T	TTCTCTCT others(712): Show TTCTCTCTCTCCTCTCTCTCTCTTTCTCTGTCTCTGTCTGTATCTCTATC TCTGTCTCTCTTTCTCTCTGTCTTCGTTCCTCTCTCTCTTTTTCTCTTTC TCTGTATCTCTATCTCTGTCTCTCTTTCTCTCTCTCCTCTCTCTCTGTCT CTTTTTCTCTGTCTCTCTCTGTGTCTCTACCTCTGTCTCTCTCTCTCCTC TCTTTTTCTCTGTCTCTGTCTGTATCTCTGTCTATCTCTGTCTCTCTCTC TCCTCTCTCTCTTTCTCTGTCTCTGTCTGTATCTCTATCTCTGTCTCTCT TTCTCTCTGTCTTCGTTCCTCTCTCTCTTTTTCTCTTTCTCTGTATCTCT ATCTCTGTCTCTCTTTCTCTCTCTCCTCTCTCTCTGTCTCTTTTTCTCTG TCTCTCTCTGTGTCTCTACCTCTGTCTCTCTCTCTCCTCTCTTTTTCTCT GTCTCTGTCTGTATCTCTGTCTATCTCTGTCTCTCTCTCTCCTCTCTCTC TTTCTCTGTCTCTGTCTGTATCTCTATCTCTGTCTCTCTTTCTCTCTGTC TTCGTTCCTCTCTCTCTTTTTCTCTTTCTCTGTATCTCTATCTCTGTCTC TCTTTCTCTCTCTCCTCTCTCTCTGTCTCTTTTTCTCTGTCTCTCTCTGT GTCTCTACCTCTGTCTCTCTCTCTCCTCTCTTTTTCTCTGTCTCTGTCTG TATCTCTGTCTATCTCTGTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0113 a0001c0001t0113	a0001c0001t0113g0177 a0001c0001t0113g0177	1	216	0.0046	719	c.-50 others(730): Show c.-5020_-5019insTCTCTCTCTCCTCTCTCTCTCTTTCTCTGTCTCT GTCTGTATCTCTATCTCTGTCTCTCTTTCTCTCTGTCTTCGTTCCTCTCT CTCTTTTTCTCTTTCTCTGTATCTCTATCTCTGTCTCTCTTTCTCTCTCT CCTCTCTCTCTGTCTCTTTTTCTCTGTCTCTCTCTGTGTCTCTACCTCTG TCTCTCTCTCTCCTCTCTTTTTCTCTGTCTCTGTCTGTATCTCTGTCTAT CTCTGTCTCTCTCTCTCCTCTCTCTCTTTCTCTGTCTCTGTCTGTATCTC TATCTCTGTCTCTCTTTCTCTCTGTCTTCGTTCCTCTCTCTCTTTTTCTC TTTCTCTGTATCTCTATCTCTGTCTCTCTTTCTCTCTCTCCTCTCTCTCT GTCTCTTTTTCTCTGTCTCTCTCTGTGTCTCTACCTCTGTCTCTCTCTCT CCTCTCTTTTTCTCTGTCTCTGTCTGTATCTCTGTCTATCTCTGTCTCTC TCTCTCCTCTCTCTCTTTCTCTGTCTCTGTCTGTATCTCTATCTCTGTCT CTCTTTCTCTCTGTCTTCGTTCCTCTCTCTCTTTTTCTCTTTCTCTGTAT CTCTATCTCTGTCTCTCTTTCTCTCTCTCCTCTCTCTCTGTCTCTTTTTC TCTGTCTCTCTCTGTGTCTCTACCTCTGTCTCTCTCTCTCCTCTCTTTTT CTCTGTCTCTGTCTGTATCTCTGTCTATCTCTGTC	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding		4912		chrX	TogoVar
SMIM47_chr19_50780728_50791160	50784590	G G	GGGAGGGA others(712): Show GGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAAAGGAGGGGGGAG GGTGGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAGGAGGGAGGT GAGGGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGCAGAGGAGGG GAAGGGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGGGGAGGGGGA AGGGGGACGGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAAGGGGAGGGG GAGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGAGGGGAGGAGGGAG GGGGAGGGGATGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGGA GGGAGGGGAGGGGGAGGGGGAGGAGGGAGGGGAGGGGGAGGGGGAGGAGG GAGGGGGAGGGGAGGGGAAGGGGGGAAGGGGAAGGGGGAGGGGGGGAGGA GGGAGGGGGAGGGGAGGGGAAGGGGGAGGAGGGAGGGGAGGGGAGGGGAA GGGGGGAAGGGGAAGGGGGAGGAGGGAGGGGGAGGGGAGGCGAAGGGGGA GGAGGGAGGGGAGAGGGGAGGGGAGGAGGGAGGGGAGGAGGGAGGGGGAG GGGGAAGGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGGAAGGGGGAAGGG GGAGGAGGGAGGGGAGAGGGGAGGGGGAGGGGGAGAGGGGAGAGGAGGGG GAGGGGGAGGGGTGGCGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00597.hp1 HG00738.hp2 others(43): Show HG00099.hp1 HG00597.hp1 HG00738.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01099.hp1 HG01123.hp1 HG01167.hp1 HG01255.hp1 HG01255.hp2 HG01258.hp2 HG01346.hp1 HG01433.hp1 HG01517.hp1 HG01891.hp1 HG01975.hp1 HG01975.hp2 HG01981.hp2 HG02004.hp1 HG02165.hp1 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp2 HG02559.hp1 HG02622.hp1 HG02647.hp1 HG02698.hp1 HG02717.hp2 HG02895.hp2 HG03017.hp1 HG03017.hp2 HG03453.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03834.hp1 HG04184.hp2 HG04199.hp1 NA18612.hp1 NA18747.hp2 NA18999.hp2 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	46	180	0.2556	719	c.12 others(730): Show c.1221_*1222insTCCCGCCACCCCTCCCCCTCCCCCTCCTCTCCCC TCTCCCCCTCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTTCC CCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTTCCCCCTCCCCCTCCCTCC TCCCCTCCCTCCTCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCGCCTC CCCTCCCCCTCCCTCCTCCCCCTTCCCCTTCCCCCCTTCCCCTCCCCTCC CCTCCCTCCTCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCCCTCC CCCTTCCCCTTCCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTCC CCCTCCCCTCCCTCCTCCCCCTCCCCCTCCCCTCCCTCCTCCCCTCCCCT CTCCCCTCCCTCCTCCCCCTTCCCCATCCCCTCCCCCTCCCTCCTCCCCT CCCCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCCTCCCCCTCCCCTTCCC CTCCTCTGCCCTCCCCTCCCCTCTCCCCGTCCCCCTTCCCCCTCCCCTCT CCTCTCCTCCTCACCCCTCCTCTCCCCTCTCCCTTCCCCTCCTCTGCCCT CCCCTCCCTCCTCCCCCTCTCCCCTCCTCTGCCCTCACCTCCCTCCTCCC CCTCTCCCCTCCCTGCCCTGCCCTCCCCTCCCCACCCTCCCCCCTCCTTT CCCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1137		chr19	TogoVar
SMIM47_chr19_50780728_50791160	50784590	G G	GGGAGGGA others(712): Show GGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAAAGGAGGGGGGAG GGTGGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAGGAGGGAGGT GAGGGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGCAGAGGAGGG GAAGGGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGGGGAGGGGGA AGGGGGACGGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAAGGGGAGGGG GAGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGAGGGGAGGAGGGAG GGGGAGGGGATGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGGA GGGAGGGGAGGGGGAGGGGGAGGAGGGAGGGGAGGGGGAGGGGGAGGAGG GAGGGGGAGGGGAGGGGAAGGGGGGAAGGGGAAGGGGGAGGGGGGGAGGA GGGAGGGGGAGGGGAGGGGAAGGGGGAGGAGGGAGGGGAGGGGAGGGGAA GGGGGGAAGGGGAAGGGGGAGGAGGGAGGGGGAGGGGAGGTGAAGGGGGA GGAGGGAGGGGAGAGGGGAGGGGAGGAGGGAGGGGAGGAGGGAGGGGGAG GGGGAAGGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGGAAGGGGGAAGGG GGAGGAGGGAGGGGAGAGGGGAGGGGGAGGGGGAGAGGGGAGAGGAGGGG GAGGGGGAGGGGTGGCGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp1 HG02273.hp2 HG01993.hp1 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	136	0.0147	719	c.12 others(730): Show c.1221_*1222insTCCCGCCACCCCTCCCCCTCCCCCTCCTCTCCCC TCTCCCCCTCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTTCC CCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTTCCCCCTCCCCCTCCCTCC TCCCCTCCCTCCTCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCACCTC CCCTCCCCCTCCCTCCTCCCCCTTCCCCTTCCCCCCTTCCCCTCCCCTCC CCTCCCTCCTCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCCCTCC CCCTTCCCCTTCCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTCC CCCTCCCCTCCCTCCTCCCCCTCCCCCTCCCCTCCCTCCTCCCCTCCCCT CTCCCCTCCCTCCTCCCCCTTCCCCATCCCCTCCCCCTCCCTCCTCCCCT CCCCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCCTCCCCCTCCCCTTCCC CTCCTCTGCCCTCCCCTCCCCTCTCCCCGTCCCCCTTCCCCCTCCCCTCT CCTCTCCTCCTCACCCCTCCTCTCCCCTCTCCCTTCCCCTCCTCTGCCCT CCCCTCCCTCCTCCCCCTCTCCCCTCCTCTGCCCTCACCTCCCTCCTCCC CCTCTCCCCTCCCTGCCCTGCCCTCCCCTCCCCACCCTCCCCCCTCCTTT CCCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1137		chr19	TogoVar
SMIM47_chr19_50780728_50791160	50784590	G G	GGGAGGGA others(712): Show GGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAAGGGAGGGGGGAG GGTGGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAGGAGGGAGGT GAGGGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGCAGAGGAGGG GAAGGGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGGGGAGGGGGA AGGGGGACGGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAAGGGGAGGGG GAGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGAGGGGAGGAGGGAG GGGGAGGGGATGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGGA GGGAGGGGAGGGGGAGGGGGAGGAGGGAGGGGAGGGGGAGGGGGAGGAGG GAGGGGGAGGGGAGGGGAAGGGGGGAAGGGGAAGGGGGAGGGGGGGAGGA GGGAGGGGGAGGGGAGGGGAAGGGGGAGGAGGGAGGGGAGGGGAGGGGAA GGGGGGAAGGGGAAGGGGGAGGAGGGAGGGGGAGGGGAGGCGAAGGGGGA GGAGGGAGGGGAGAGGGGAGGGGAGGAGGGAGGGGAGGAGGGAGGGGGAG GGGGAAGGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGGAAGGGGGAAGGG GGAGGAGGGAGGGGAGAGGGGAGGGGGAGGGGGAGAGGGGAGAGGAGGGG GAGGGGGAGGGGTGGCGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	135	0.0074	719	c.12 others(730): Show c.1221_*1222insTCCCGCCACCCCTCCCCCTCCCCCTCCTCTCCCC TCTCCCCCTCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTTCC CCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTTCCCCCTCCCCCTCCCTCC TCCCCTCCCTCCTCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCGCCTC CCCTCCCCCTCCCTCCTCCCCCTTCCCCTTCCCCCCTTCCCCTCCCCTCC CCTCCCTCCTCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCCCTCC CCCTTCCCCTTCCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTCC CCCTCCCCTCCCTCCTCCCCCTCCCCCTCCCCTCCCTCCTCCCCTCCCCT CTCCCCTCCCTCCTCCCCCTTCCCCATCCCCTCCCCCTCCCTCCTCCCCT CCCCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCCTCCCCCTCCCCTTCCC CTCCTCTGCCCTCCCCTCCCCTCTCCCCGTCCCCCTTCCCCCTCCCCTCT CCTCTCCTCCTCACCCCTCCTCTCCCCTCTCCCTTCCCCTCCTCTGCCCT CCCCTCCCTCCTCCCCCTCTCCCCTCCTCTGCCCTCACCTCCCTCCTCCC CCTCTCCCCTCCCTGCCCTGCCCTCCCCTCCCCACCCTCCCCCCTCCCTT CCCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1137		chr19	TogoVar
SRXN1_chr20_641615_658200	642043	G G	GGGGGAGG others(712): Show GGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCCAGCGGGGG TGGAGTTGCCTGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGG GGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGCCCAGCGGGGGTGG AGTTGCCTGGTGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGG AGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGCCCAGCGGGGGTGGG GTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGGAGGCC CAGCGGGGGTGGAGTTGCCTGGGGGGGGAGGCCCAGCGGGGGTGGAGTTG CCTGGGGGGGGGTGCCCAGCGGGGGTGGAGTTGCCTGTGGTGGGGGGCCC AGCGGGGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCGGGGGTGGAGTTGC CTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGG GGGTGGAGTTGCCTGGGGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGG GGGGGGCCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGCCCAGCGGGGG TGGAGTTGCCTGGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGG GGGGGCCCAGCGGGGGTGGAGTTGCCTGGTGGGGGGAGGCCCAGCGGGGG TGGAGTTGCCTGGGGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0112 a0001c0001t0003g0112	1	391	0.0026	719	c.66 others(730): Show c.6670_*6671insTCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCT CCCCCCACCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCCAGGCAACT CCACCCCCGCTGGGCCCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCC CCCCCCCAGGCAACTCCACCCCCGCTGGGGCCCCCCCCAGGCAACTCCAC CCCCGCTGGGCCTCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCC CCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCC GCTGGGCCCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCACCAC AGGCAACTCCACCCCCGCTGGGCACCCCCCCCCAGGCAACTCCACCCCCG CTGGGCCTCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCCCA GGCAACCCCACCCCCGCTGGGCCCCCCCCAGGCAACCCCACCCCCGCTGG GCCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCCCAGGCAA CTCCACCCCCGCTGGGCCTCCCCCCACCAGGCAACTCCACCCCCGCTGGG CCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCCAGGCAAC TCCACCCCCGCTGGGCCCCCCCCCCAGGCAACTCCACCCCCGCTGGGGCC CCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4571		chr20	TogoVar
SRXN1_chr20_641615_658200	642352	G G	GGGGGGGG others(712): Show GGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGT GGAGTTGCCTGGGGGGTGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGG GGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGT TGCCTGGGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGGGCCCA GCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGG GGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGAGGCCCAGCGGGGG TGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGG GCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTT GCCTGTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCA GCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGG GGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGAGGCCCAGCGGGGG TGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGG GCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTT GCCTGTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGGC CCAGCGGGGGTGGAGTTGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0007 a0001c0002t0004g0007	1	338	0.0030	719	c.63 others(730): Show c.6361_*6362insGGCAACTCCACCCCCGCTGGGCCCCCCCCCCACA GGCAACTCCACCCCCGCTGGGCCCCCCACCACAGGCAACTCCACCCCCGC TGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAA CTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCT CCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCAC CCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCA GGCAACTCCACCCCCGCTGGGCCCCCCACCACAGGCAACTCCACCCCCGC TGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAA CTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCT CCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCAC CCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCA GGCAACCCCACCCCCGCTGGGCCCCCCCCCCAGGCAACTCCACCCCCGCT GGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCACAGGC AACTCCACCCCCGCTGGGCACCCCCCAGGCAACTCCACCCCCGCTGGGCC CCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4262		chr20	TogoVar
TAF4_chr20_61969798_62070881	61982228	A A	ACCCCAGA others(712): Show ACCCCAGAGGAGACACCAAACTCACACCCCACCCGAGAGGAGACACCAAA CCCACACCCACCTGAGAGGAAACACCAAACCCACAACCCACCGGAGAGGA GACACCAAAACCCACACAACCCACATCCACCCGAGAGGAGACACCCAACC TATACCCCACCAGAGAGGAGACACCAAACCCATACCCCACGAGAGAGGAG ACACCAAACCCATACCCCACCAGAGACGAGACACCAAAACCCACACAACC GACACCCACCCAAGAGGAGACACCAAACCCACACCCACCTGAGAGGAAAC ACCAAACCCACACCCACCTGAGAGGAAACACCAAACCCACACCCACCTGA GAGGAAACACCAAACCCACAACCCACCGGAGAGGAGACACCAAAACCCAC ACAACCCACATCCACCCGAGAGGAGACACCCAACCTATACCCCACCAGAG AGGAGACACCAAACCCATACCCCACGAGAGAGGAGACACCAAACCCATAC CCCACCAGAGACGAGACACCAAAACCCACACAACCGACACCCACCCAAGA GGAGACACCAAACCCACACCCACCTGAGAGGAAACACCAAACCCACACCC ACCTGAGAGGAAACACCAAACCCACACCCACCTGAGAGGAAACACCAAAC CCACACCCTACCAGAGAGGAGACACCAAAACCCACATCCACCTGAGAGGA GACACCAAACCCACACCCAC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02896.hp2 HG02897.hp2 others(1): Show HG02572.hp1 HG02896.hp2 HG02897.hp2 NA19030.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0011 a0004c0009t0001g0012 a0004c0009t0001g0013 others(1): Show a0004c0009t0001g0011 a0004c0009t0001g0012 a0004c0009t0001g0013 a0004c0009t0001g0014	4	217	0.0184	719	c.309 others(738): Show c.3091-5894_3091-5893insGTGGGTGTGGGTTTGGTGTCTCCTCT CAGGTGGATGTGGGTTTTGGTGTCTCCTCTCTGGTAGGGTGTGGGTTTGG TGTTTCCTCTCAGGTGGGTGTGGGTTTGGTGTTTCCTCTCAGGTGGGTGT GGGTTTGGTGTTTCCTCTCAGGTGGGTGTGGGTTTGGTGTCTCCTCTTGG GTGGGTGTCGGTTGTGTGGGTTTTGGTGTCTCGTCTCTGGTGGGGTATGG GTTTGGTGTCTCCTCTCTCGTGGGGTATGGGTTTGGTGTCTCCTCTCTGG TGGGGTATAGGTTGGGTGTCTCCTCTCGGGTGGATGTGGGTTGTGTGGGT TTTGGTGTCTCCTCTCCGGTGGGTTGTGGGTTTGGTGTTTCCTCTCAGGT GGGTGTGGGTTTGGTGTTTCCTCTCAGGTGGGTGTGGGTTTGGTGTTTCC TCTCAGGTGGGTGTGGGTTTGGTGTCTCCTCTTGGGTGGGTGTCGGTTGT GTGGGTTTTGGTGTCTCGTCTCTGGTGGGGTATGGGTTTGGTGTCTCCTC TCTCGTGGGGTATGGGTTTGGTGTCTCCTCTCTGGTGGGGTATAGGTTGG GTGTCTCCTCTCGGGTGGATGTGGGTTGTGTGGGTTTTGGTGTCTCCTCT CCGGTGGGTTGTGGGTTTGGTGTTTCCTCTCAGGTGGGTGTGGGTTTGGT GTCTCCTCTCGGGTGGGGTGTGAGTTTGGTGTCTCCTCTGGGG	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	14/14			chr20	TogoVar
THBS2_chr6_169210785_169258846	169242751	T T	TTCCCACC others(712): Show TTCCCACCACTCCCACCTTCCCACCACTCCCACCTTCCCACCTTCCCACC TTCCCACCTTCCCACCACTCCCACCTTCCCACCTTCCCACCTTCCCACTG CTCCCACCTTCCCACCTTCCCACATTCCCACCTTCCCACATTCCCACCTT CCCACCACTCCCACCTTCCCACCTTCCCACTGCTCCCACCTTCCCACCTT CCCACATTCCCACCTTCCCACCTTCCCACCTTCCCACCGCTCCCACCTTC CCACCTTCCCACCGCTCCCACCTTCCCACCTTCCCACCGCTCCCACCTTC CCACATTCCCACCTTCCCACCTTCCCACCTTCCCACTGCTCCCACCTTCC CACCTTCCCACCACTCCTACCTTCCTACCTTCCCACCGCTCCCACATTCT CACCTTCCCACCTTTCCACCTTCCCACCACTCCTACCTTCCCACCTTCCC ACATTCCCACCTTCCCACCTTCCCACATTCCCACCTTCCCACCTTCCCAC CGCTCCCACCTTCCCATCACTCCCACCTTCCCACCGCTCCCACCTTCCCA CCTTCCCACCACTCCCACCTTCCCACCTTCCCACCGCTCCCACCTTCCCA CCTTCCCACCTTCCCACCACTCCCACCTTCCCACCTTCCCACCGCTCCCA CCTTCCCACCTTCCCACCTTCCCACCACTCCCACCTTCCCAGTGCTCCCA TCTTCCCACCTTCCCACCAC	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0006 a0001c0008t0006	a0001c0008t0006g0249 a0001c0008t0006g0249	1	382	0.0026	719	c.695 others(734): Show c.695-794_695-793insGTGGTGGGAAGGTGGGAAGATGGGAGCACT GGGAAGGTGGGAGTGGTGGGAAGGTGGGAAGGTGGGAAGGTGGGAGCGGT GGGAAGGTGGGAAGGTGGGAGTGGTGGGAAGGTGGGAAGGTGGGAAGGTG GGAGCGGTGGGAAGGTGGGAAGGTGGGAGTGGTGGGAAGGTGGGAAGGTG GGAGCGGTGGGAAGGTGGGAGTGATGGGAAGGTGGGAGCGGTGGGAAGGT GGGAAGGTGGGAATGTGGGAAGGTGGGAAGGTGGGAATGTGGGAAGGTGG GAAGGTAGGAGTGGTGGGAAGGTGGAAAGGTGGGAAGGTGAGAATGTGGG AGCGGTGGGAAGGTAGGAAGGTAGGAGTGGTGGGAAGGTGGGAAGGTGGG AGCAGTGGGAAGGTGGGAAGGTGGGAAGGTGGGAATGTGGGAAGGTGGGA GCGGTGGGAAGGTGGGAAGGTGGGAGCGGTGGGAAGGTGGGAAGGTGGGA GCGGTGGGAAGGTGGGAAGGTGGGAAGGTGGGAATGTGGGAAGGTGGGAA GGTGGGAGCAGTGGGAAGGTGGGAAGGTGGGAGTGGTGGGAAGGTGGGAA TGTGGGAAGGTGGGAATGTGGGAAGGTGGGAAGGTGGGAGCAGTGGGAAG GTGGGAAGGTGGGAAGGTGGGAGTGGTGGGAAGGTGGGAAGGTGGGAAGG TGGGAAGGTGGGAGTGGTGGGAAGGTGGGAGTGGTGGGA	THBS2	ENSG00000186340.17	transcript	ENST00000617924.6	protein_coding	4/21			chr6	TogoVar
TP53AIP1_chr11_128930370_128947871	128930685	G G	GGTTAGGG others(712): Show GGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTA GGGAGACCAAGGGTCAGGGAGGCCAGGGATTAGGGAGGCCGGGGTTAGGG AGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGACC AAGGGTCAGGGAGGCCAGGGATTAGGGAGGCCGGGGTTAGGGAGGCCGGG GTTAGAGAGGCCAGGGGTTAGGGAGGCCAGGGTAGGGAGGCTGGGGGTTA GGAAGGCCGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGGTTAGGG AGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGAGAGGCC AGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGG GGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTA GGGAGGCCGGGGTTATGGAGGCAGGGATTATGGAGGCAGGGATTAGGGAG GCAGGGATTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGG GGTTAGGGAGGCCGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGGT TAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGG AGGCCGGGGTTATGGAGGCAGGGATTATGGAGGCAGGGATTAGGGAGGCA GGGATTAGGGAGGCCGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	166	0.0060	719	c.49 others(730): Show c.4905_*4906insACCCCGGCCTCCCTAATCCCTGCCTCCCTAATCC CTGCCTCCATAATCCCTGCCTCCATAACCCCGGCCTCCCTAACCCCGGCC TCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCTGGCCTCCC TGACCCTTGGTCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAAC CCCGGCCTCCCTAACCCCGGCCTCCCTAATCCCTGCCTCCCTAATCCCTG CCTCCATAATCCCTGCCTCCATAACCCCGGCCTCCCTAACCCCGGCCTCC CTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCTGGCCTCCCTAA CCCCAGCCTCCCTAACCCCTGGCCTCCCTAACCCCTGGCCTCTCTAACCC CGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCTGGC CTCCCTGACCCTTGGTCTCCCTAACCCCGGCCTTCCTAACCCCCAGCCTC CCTACCCTGGCCTCCCTAACCCCTGGCCTCTCTAACCCCGGCCTCCCTAA CCCCGGCCTCCCTAATCCCTGGCCTCCCTGACCCTTGGTCTCCCTAACCC CGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCC TCCCTAATCCCTGGCCTCCCTGACCCTTGGTCTCCCTAACCCCAGCCTCC CTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAAC	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4684		chr11	TogoVar
TP53AIP1_chr11_128930370_128947871	128930820	G G	GTTAGGGA others(712): Show GTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGATTAGGGAGGCCGGGGTT AGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGAGAGGCCGGGGTTAGGGA GACCAAGGGTCAGGGAGGCCAGGGATTAGGGAGGCCGGGGTTAGGGAGGC CGGGGTTAGGGAGGCCGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCAGG GATTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGAGAGGCCAGGGGTT AGGGAGGCCAGGGTAGGGAGGCTGGGGGTTAGGAAGGCCGGGGTTAGGGA GACCAAGGGTCAGGGAGGCCAGGGGTTAGGGAGGCCGGGGTTAGGGAGGC CGGGGTTAGGGAGGCCGGGGTTAGAGAGGCCAGGGGTTAGGGAGGCCAGG GGTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCTGGGGTT AGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTATGGA GGCAGGGATTATGGAGGCAGGGATTAGGGAGGCAGGGATTAGGGAGGCCG GGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTT AGGGAGACCAAGGGTCAGGGAGGCCAGGGGTTAGGGAGGCCGGGGTTAGG GAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTATGGAGGC AGGGATTATGGAGGCAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	427	0.0023	719	c.47 others(730): Show c.4770_*4771insTCCCTGCCTCCATAATCCCTGCCTCCATAACCCC GGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCT CCCTAACCCCTGGCCTCCCTGACCCTTGGTCTCCCTAACCCCGGCCTCCC TAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAATC CCTGCCTCCCTAATCCCTGCCTCCATAATCCCTGCCTCCATAACCCCGGC CTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCC TAACCCCTGGCCTCCCTAACCCCAGCCTCCCTAACCCCTGGCCTCCCTAA CCCCTGGCCTCTCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCC GGCCTCCCTAACCCCTGGCCTCCCTGACCCTTGGTCTCCCTAACCCCGGC CTTCCTAACCCCCAGCCTCCCTACCCTGGCCTCCCTAACCCCTGGCCTCT CTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAATCCCTGGCCTCCCTGA CCCTTGGTCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCC GGCCTCCCTAATCCCTGGCCTCCCTGACCCTTGGTCTCCCTAACCCCGGC CTCTCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCC TAATCCCTGGCCTCCCTGACCCTTGGTCTCCCTAA	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4549		chr11	TogoVar
TRAPPC12_chr2_3374694_3484565	3438060	A A	ATCACCCC others(712): Show ATCACCCCTGAATTAATCCCCCCATCACCCCTGGATTAATACCCCATCAC CCCTGGATTAATACCCCATCACCCCTGGATTAATACCCCATCACCCCTGG ATTAATACCCCATCACCCCTGGATTAATCCCCCCACCACCCCTGGATTAA TCCCCCAATCACCCCTGGATTAATCCCCCCATCACCCCAGGATTAATACC CCATCACCCCAGGATTAATACCCCATCACCCCTGGATTAATCCCCCCATC ACCCCTGGATTAATCCCCCCATCACCCCTGGATTAATACCCCATCACCCC TGGATTAATCCCCCCATCACCCCTGGATTAATCCCCCAATCACCCCTGGA TTAATCCCCCCATCACCCCTGGATTAATACCCCATCACCCCAGGATTAAT ACCCCATCACCCCTGGATTAATCCCCCCATCACCCCTGGATTAATCCCCC ATCACCCCTGAATTAATCCCCCCATCACCCCTGGATTAATACCCCATCAC CCCTGGATTAATACCCCATCACCCCTGGATTAATACCCCATCACCCCAGG ATTAATACCCCATCACCCCTGGATTAATCCCCCCACCACCCCTGGATTAA TCCCCCAATCACCCCTGGATTAATCCCCCAATCACCCCTGGATTAATCCC CCATCACCCCAGGATTAATCCCCCAATCACCCCTGGATTAATCCCCCCAT CAGCCCTGGATTAATACCCC	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0319 a0002c0007t0001g0319	1	159	0.0063	719	c.141 others(738): Show c.1418-5719_1418-5718insTCACCCCTGAATTAATCCCCCCATCA CCCCTGGATTAATACCCCATCACCCCTGGATTAATACCCCATCACCCCTG GATTAATACCCCATCACCCCTGGATTAATACCCCATCACCCCTGGATTAA TCCCCCCACCACCCCTGGATTAATCCCCCAATCACCCCTGGATTAATCCC CCCATCACCCCAGGATTAATACCCCATCACCCCAGGATTAATACCCCATC ACCCCTGGATTAATCCCCCCATCACCCCTGGATTAATCCCCCCATCACCC CTGGATTAATACCCCATCACCCCTGGATTAATCCCCCCATCACCCCTGGA TTAATCCCCCAATCACCCCTGGATTAATCCCCCCATCACCCCTGGATTAA TACCCCATCACCCCAGGATTAATACCCCATCACCCCTGGATTAATCCCCC CATCACCCCTGGATTAATCCCCCATCACCCCTGAATTAATCCCCCCATCA CCCCTGGATTAATACCCCATCACCCCTGGATTAATACCCCATCACCCCTG GATTAATACCCCATCACCCCAGGATTAATACCCCATCACCCCTGGATTAA TCCCCCCACCACCCCTGGATTAATCCCCCAATCACCCCTGGATTAATCCC CCAATCACCCCTGGATTAATCCCCCATCACCCCAGGATTAATCCCCCAAT CACCCCTGGATTAATCCCCCCATCAGCCCTGGATTAATACCCC	TRAPPC12	ENSG00000171853.16	transcript	ENST00000324266.10	protein_coding	5/11			chr2	TogoVar
USP2_chr11_119350215_119386690	119351510	C C	CCTCCTCT others(712): Show CCTCCTCTCTCCTCCTCTGTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCC CCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCC CCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCTCTCTCCTCCCCTCC CCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTCC CCTCCCCTCTCTCCTCCGCTCCGCTCCCCTCTCCTCCACTCCTCTCCCCT CCCTTCCCCTCTCCTCCCCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCT CCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCTCTCCTCCGCTCCC CTCCCCTCTCCTCCGCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCT CTCTCCTCCCCTCCCCTCTCCTCCGCTCCTCTCCCCTCCCTTCCCCTCTC CTCCCCTCCTCTCTCCTCCCCTCCCCTCTCCTCTGCTCCTCTCCCCTCCC TTCCCCTCTCCTCCCCTCCTCTCTCCTCCCCTCCCCTCTCCTCCGCTCCC CTCCCCTCTCCTCCACTCCTCTCCCCTCCCCTCCTCTCTCCTCCACTCCT CTCCCCTCCTCTCCTCTCTCCTCCCCTCCCCTCTCCTCCCCTCCCCACCC CTCCCCTCCCCTCCTTTCTCCTCCCCTCCCCACGGCTCCCCTCCCCTCCT TTCTCCTCCCTTGCCGTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0022 a0001c0002t0022	a0001c0002t0022g0053 a0001c0002t0022g0053	1	2	0.5000	719	c.53 others(730): Show c.5324_*5325insAGGACGGCAAGGGAGGAGAAAGGAGGGGAGGGGA GCCGTGGGGAGGGGAGGAGAAAGGAGGGGAGGGGAGGGGTGGGGAGGGGA GGAGAGGGGAGGGGAGGAGAGAGGAGAGGAGGGGAGAGGAGTGGAGGAGA GAGGAGGGGAGGGGAGAGGAGTGGAGGAGAGGGGAGGGGAGCGGAGGAGA GGGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGA GCAGAGGAGAGGGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGA GGGGAGAGGAGCGGAGGAGAGGGGAGGGGAGGAGAGAGGAGGGGAGGAGA GGGGAAGGGAGGGGAGAGGAGCGGAGGAGAGGGGAGGGGAGCGGAGGAGA GAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGGG GAAGGGAGGGGAGAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGTG GAGGAGAGGGGAGCGGAGCGGAGGAGAGAGGGGAGGGGAGGGGAGGAGAG AGGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAG AGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGAG GGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGAG GGGAGGGGAGGGGAGGACAGAGGAGGAGAGAGGAG	USP2	ENSG00000036672.16	transcript	ENST00000260187.7	protein_coding		3704		chr11	TogoVar
VEZF1_chr17_57966552_57993254	57969305	G G	GCACTTTG others(712): Show GCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGAT CATCCTGGCTAACACGGTGAAACCCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATGGCGCCACTACACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAAACAACAAAGAAAAAAAAAACAAATGAACA AAAAACCACCCTGATAGTTTTTGTTGTTGTTGTTGTTTTTGAGATGGTGT TTCACTCTTGTTGCCCGGGCTGTAGTGCAATGGCGCGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCACCACCACGCCCCGCTAATTTTTCTATT TTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCC TGACCTTGTGATCCTCCCGCCTCAGCCTTCCAAAGTGCTGGGATTACAGG CGTGAGCCACTGCGCCCGACCCGGTAGAGAATCTTAAGTATAAAACTTCT TTCTCTTATCATGTCATGATAAAAACTAAAGGGCGGGGCTGGGCACGGTG GCTCACGCCTGTAATCCCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	119	0.0084	719	c.51 others(730): Show c.5167_*5168insTTGGGATTACAGGCGTGAGCCACCGTGCCCAGCC CCGCCCTTTAGTTTTTATCATGACATGATAAGAGAAAGAAGTTTTATACT TAAGATTCTCTACCGGGTCGGGCGCAGTGGCTCACGCCTGTAATCCCAGC ACTTTGGAAGGCTGAGGCGGGAGGATCACAAGGTCAGGAGATCGAGACCA TCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATAGAAAAATTAG CGGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC GCGCCATTGCACTACAGCCCGGGCAACAAGAGTGAAACACCATCTCAAAA ACAACAACAACAACAAAAACTATCAGGGTGGTTTTTTGTTCATTTGTTTT TTTTTTCTTTGTTGTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCACCCAGGCTGGAGTGTAGTGGCGCCATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCACCCGCCACCACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGGTTTCACCGTGTTAGCCAGGATGATCTCGATCTCCTG ACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTG	VEZF1	ENSG00000136451.9	transcript	ENST00000581208.2	protein_coding		2246		chr17	TogoVar
VEZF1_chr17_57966552_57993254	57969305	G G	GCACTTTG others(712): Show GCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGAT CATCCTGGCTAACACGGTGAAACCCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATGGCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAAACAACAAAGAAAAAAAAAACAAATGAACA AAAAACCACCCTGATAGTTTTTGTTGTTGTTGTTGTTTTTGAGATGGTGT TTCACTCTTGTTGCCCGGGCTGTAGTGCAATGGCGCGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCACCACCACGCCCCGCTAATTTTTCTATT TTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCC TGACCTTGTGATCCTCCCGCCTCAGCCTTCCAAAGTGCTGGGATTACAGG CGTGAGCCACTGCGCCCGACCCGGTAGAGAATCTTAAGTATAAAACTTCT TTCTCTTATCATGTCATGATAAAAACTAAAGGGCGGGGCTGGGCACGGTG GCTCACGCCTGTAATCCCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG01891.hp2 HG02109.hp2 others(9): Show HG01884.hp2 HG01891.hp2 HG02109.hp2 HG02559.hp2 HG02622.hp1 HG02630.hp2 HG03098.hp1 HG03486.hp1 HG03486.hp2 NA18906.hp1 NA19240.hp1 NA20129.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0001 a0001c0001t0004 a0003c0006t0001 a0001c0001t0001 a0001c0001t0004 a0003c0006t0001	a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0046 others(4): Show a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0004g0010 a0003c0006t0001g0007 a0003c0006t0001g0047	12	130	0.0923	719	c.51 others(730): Show c.5167_*5168insTTGGGATTACAGGCGTGAGCCACCGTGCCCAGCC CCGCCCTTTAGTTTTTATCATGACATGATAAGAGAAAGAAGTTTTATACT TAAGATTCTCTACCGGGTCGGGCGCAGTGGCTCACGCCTGTAATCCCAGC ACTTTGGAAGGCTGAGGCGGGAGGATCACAAGGTCAGGAGATCGAGACCA TCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATAGAAAAATTAG CGGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC GCGCCATTGCACTACAGCCCGGGCAACAAGAGTGAAACACCATCTCAAAA ACAACAACAACAACAAAAACTATCAGGGTGGTTTTTTGTTCATTTGTTTT TTTTTTCTTTGTTGTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCACCCGCCACCACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGGTTTCACCGTGTTAGCCAGGATGATCTCGATCTCCTG ACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTG	VEZF1	ENSG00000136451.9	transcript	ENST00000581208.2	protein_coding		2246		chr17	TogoVar
VEZF1_chr17_57966552_57993254	57969305	G G	GCACTTTG others(712): Show GCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGAT CATCCTGGCTAACACGGTGAAACCCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATGGCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAACAACAACAAAGAAAAAAAAAACAAATGAACAA AAAACCACCCTGATAGTTTTTGTTGTTGTTGTTGTTTTTGAGATGGTGTT TCACTCTTGTTGCCCGGGCTGTAGTGCAATGGCGCGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCACCACCACGCCCCGCTAATTTTTCTATTT TTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCT GACCTTGTGATCCTCCCGCCTCAGCCTTCCAAAGTGCTGGGATTACAGGC GTGAGCCACTGCGCCCGACCCGGTAGAGAATCTTAAGTATAAAACTTCTT TCTCTTATCATGTCATGATAAAAACTATAAGGGCGGGGCTGGGCACGGTG GCTCACGCCTGTAATCCCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00423.hp2 HG01070.hp1 others(46): Show HG00280.hp1 HG00423.hp2 HG01070.hp1 HG01168.hp1 HG01891.hp1 HG01975.hp1 HG02015.hp2 HG02040.hp2 HG02165.hp2 HG02257.hp2 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02896.hp2 HG02922.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03540.hp1 HG03654.hp1 HG03834.hp2 NA18954.hp2 NA18961.hp1 NA18961.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA18980.hp1 NA19010.hp1 NA19043.hp2 NA19063.hp2 NA19077.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp2 NA20300.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0002c0005 a0001c0001 a0002c0003 a0002c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0002c0003t0001 a0002c0005t0001 a0002c0005t0016	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(18): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0015 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0106 a0001c0001t0003g0070 a0001c0001t0007g0034 a0001c0001t0009g0083 a0001c0001t0011g0058 a0002c0003t0001g0009 a0002c0005t0001g0022 a0002c0005t0001g0099 a0002c0005t0016g0063	49	167	0.2934	719	c.51 others(730): Show c.5167_*5168insTTGGGATTACAGGCGTGAGCCACCGTGCCCAGCC CCGCCCTTATAGTTTTTATCATGACATGATAAGAGAAAGAAGTTTTATAC TTAAGATTCTCTACCGGGTCGGGCGCAGTGGCTCACGCCTGTAATCCCAG CACTTTGGAAGGCTGAGGCGGGAGGATCACAAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATAGAAAAATTA GCGGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CGCGCCATTGCACTACAGCCCGGGCAACAAGAGTGAAACACCATCTCAAA AACAACAACAACAACAAAAACTATCAGGGTGGTTTTTTGTTCATTTGTTT TTTTTTTCTTTGTTGTTGTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCACCCGCCACCACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGGTTTCACCGTGTTAGCCAGGATGATCTCGATCTCCTG ACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTG	VEZF1	ENSG00000136451.9	transcript	ENST00000581208.2	protein_coding		2246		chr17	TogoVar
ZFYVE28_chr4_2264597_2423645	2299660	G G	GGGAAAGG others(712): Show GGGAAAGGAAGGGAGGGGAGGGAGGGAGGGAGAAAAGGGAAGTGAGAGGA AGGAGGGAGGGAGGAAAGGGAAGGGAGAGGAGGGAGGGAGTGAGGGAAGG GAAGGGAGGGGAGGGAGGTAGGCAGGGAAGGGAGGGGAGGGAGGGAGGGG AGGGAGGGGAGGGAGGGAAGGGGAGGGAGGGGAGGGAAGGGGAGGGAGGG GAGGGAGGGGAGGGAAGGGGAGGGAGGGGAGGGAAGGGGAGGGAGGGGAG GGAGGGAGGGAAGTGAGGGGAGGGAGGGAGGGAAGTGAGGGGAGGGAGGG AGGGAAGGCAGGGAGGGGAGGGAGGGAGGGGAGGCAGGGGAGGGAGGGAA GGGGAGGGAGGGGAGGGAAGGGGAGGGAGGGGTGGGAGGGAGGGAAGTGA GGGGAGGGAGGGAGGGAAGTGAGGGGAGCGAGGGAGGGAAGGCAGGGAGG GGAGGGGAGGGAGGGAGGGGAGGGAGGGGAGGGAGGGAAGGGGAGGGAGG GGAGGGATGGGGAGGGAGGGGAGGGAGGGAGGGAAGTGAGGGGAGGGAGG GAGGGAAGTGAGGGGAGGGAGGGAGGGAAGGCAGGGAGGGGAGGGAGGGA GGGAAGGGAGGGGAGGGAGGGAGGGAAGTGAAGGAAAGGGAAAGAGGGAG GGAGGGAAGGGAAGGGAGGGGAGGGTGGGGAGGGTGGGATGAAGGAAATG GAAAGAAAGGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0029 a0002c0003t0001g0029	1	72	0.0139	719	c.205 others(738): Show c.2051+4628_2051+4629insTTCTTTCTTTCCTTTCTTTCCATTTC CTTCATCCCACCCTCCCCACCCTCCCCTCCCTTCCCTTCCCTCCCTCCCT CTTTCCCTTTCCTTCACTTCCCTCCCTCCCTCCCCTCCCTTCCCTCCCTC CCTCCCCTCCCTGCCTTCCCTCCCTCCCTCCCCTCACTTCCCTCCCTCCC TCCCCTCACTTCCCTCCCTCCCTCCCCTCCCTCCCCATCCCTCCCCTCCC TCCCCTTCCCTCCCTCCCCTCCCTCCCCTCCCTCCCTCCCCTCCCCTCCC TGCCTTCCCTCCCTCGCTCCCCTCACTTCCCTCCCTCCCTCCCCTCACTT CCCTCCCTCCCACCCCTCCCTCCCCTTCCCTCCCCTCCCTCCCCTTCCCT CCCTCCCCTGCCTCCCCTCCCTCCCTCCCCTCCCTGCCTTCCCTCCCTCC CTCCCCTCACTTCCCTCCCTCCCTCCCCTCACTTCCCTCCCTCCCTCCCC TCCCTCCCCTTCCCTCCCCTCCCTCCCCTTCCCTCCCCTCCCTCCCCTCC CTCCCCTTCCCTCCCCTCCCTCCCCTTCCCTCCCTCCCCTCCCTCCCCTC CCTCCCTCCCCTCCCTTCCCTGCCTACCTCCCTCCCCTCCCTTCCCTTCC CTCACTCCCTCCCTCCTCTCCCTTCCCTTTCCTCCCTCCCTCCTTCCTCT CACTTCCCTTTTCTCCCTCCCTCCCTCCCCTCCCTTCCTTTCC	ZFYVE28	ENSG00000159733.14	transcript	ENST00000290974.7	protein_coding	8/12			chr4	TogoVar
ZNF365_chr10_62369369_62407450	62370953	G G	GTGATATA others(712): Show GTGATATATATCATATGTGATATATATCATATATATCACATATGTGATAT ATATCATATGTGATATATATCATATATATCACATATGTGATATATATCAT ATATATCACATATGTGATATATATCATATGTGATATATATCATATATATA TCACATATGTGATATATCATATGTGATGTATATCATATATATATCACATA TGATATATATCATATGTGATATATATCATATATATCACATATGATATATA TCATATGTGATATATATCATATATATCACATATGATATATATCATATGTG ATCATATGTGATATATATCATATATATCACATATGATATATATCATATGT GATATATATCATATATATCACATATGATATATATCATATGTGATATATAT ATATCATATATATCACATATGATATATATCATATGTGATATATATAGCAT ATATATCATATATATCACATATGATATATAGCATATATATCATATGTGAT ATATAGCATATATATCATATGTGATATATAGCATATATATCATATGTGAT ATATAGCATATATATCATATATCATATATATCATATATATCATATATCAT ATATATCATATATATCATATATCATATATCATATATATCATATATATCAT ATATGTCATATGTGATATATATGATATATATGATATATATGATATATATC ATATATATGTGATATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0011 a0001c0001t0006g0011	1	325	0.0031	719	c.-35 others(730): Show c.-3519_-3518insTGATATATATCATATGTGATATATATCATATATA TCACATATGTGATATATATCATATGTGATATATATCATATATATCACATA TGTGATATATATCATATATATCACATATGTGATATATATCATATGTGATA TATATCATATATATATCACATATGTGATATATCATATGTGATGTATATCA TATATATATCACATATGATATATATCATATGTGATATATATCATATATAT CACATATGATATATATCATATGTGATATATATCATATATATCACATATGA TATATATCATATGTGATCATATGTGATATATATCATATATATCACATATG ATATATATCATATGTGATATATATCATATATATCACATATGATATATATC ATATGTGATATATATATATCATATATATCACATATGATATATATCATATG TGATATATATAGCATATATATCATATATATCACATATGATATATAGCATA TATATCATATGTGATATATAGCATATATATCATATGTGATATATAGCATA TATATCATATGTGATATATAGCATATATATCATATATCATATATATCATA TATATCATATATCATATATATCATATATATCATATATCATATATCATATA TATCATATATATCATATATGTCATATGTGATATATATGATATATATGATA TATATGATATATATCATATATATGTGATATATATC	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3415		chr10	TogoVar
ADAM12_chr10_126007391_126393477	126251885	A A	ATGGGATG others(713): Show ATGGGATGGATGGGATGAATGGATGGATGGATGGGATGGATAGGATGGAT GGGATGGATGGATGGATGGGATGATGGGATGGATAGAACGGATGGAGGGA GGGATGGATGGATGGATGAACGGGATGGATGGATGGATGATCAGGATGGA TGGATGGATGGGATGGATGGATGATGGATGGACGGGATGGATAAATGGAT GGATTGGGTGGGATGGATAGATTGGATGGATGGATGGGATGGACGATGGA TGGGATGAATGGATTAGATGGATGGGATGGATGGATGGACAGGATGGATG GGTGGATGGATGGGATAGATGTGATGGGTGGGATGGACACATGGGATGGA TGTGATGGATGGGATGAATGGATGGGATGAATGGATGGGATGGACAGGAT GGATGGATGGATGGATAGGATAGATGGGTGGGATGGATGGGATGGATGGA TGAATGGACAGGATGGATGGGATGGATGGATGAATGGACGGGATGGATAG GATGGATGGATAGATGAATGGATGGGATGGATGGGATGGATAGGAAGGAT GGATGGATGGGATGGAGAGGATGGATGGGATGGATGGATAGGATGGATGG ATAGGATGGGATGGATGGATATGATGGATAGATTGGATGGATGGATGGGA TGATGGGATGAATGGATTGGATGGATGGATGGGATGGATACATGAATTGA TGGGATGGATAGGATAGATGG	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0039 a0001c0003t0039	a0001c0003t0039g0027 a0001c0003t0039g0027	1	181	0.0055	720	c.260 others(739): Show c.260+27029_260+27030insCCATCTATCCTATCCATCCCATCAAT TCATGTATCCATCCCATCCATCCATCCAATCCATTCATCCCATCATCCCA TCCATCCATCCAATCTATCCATCATATCCATCCATCCCATCCTATCCATC CATCCTATCCATCCATCCCATCCATCCTCTCCATCCCATCCATCCATCCT TCCTATCCATCCCATCCATCCCATCCATTCATCTATCCATCCATCCTATC CATCCCGTCCATTCATCCATCCATCCCATCCATCCTGTCCATTCATCCAT CCATCCCATCCATCCCACCCATCTATCCTATCCATCCATCCATCCATCCT GTCCATCCCATCCATTCATCCCATCCATTCATCCCATCCATCACATCCAT CCCATGTGTCCATCCCACCCATCACATCTATCCCATCCATCCACCCATCC ATCCTGTCCATCCATCCATCCCATCCATCTAATCCATTCATCCCATCCAT CGTCCATCCCATCCATCCATCCAATCTATCCATCCCACCCAATCCATCCA TTTATCCATCCCGTCCATCCATCATCCATCCATCCCATCCATCCATCCAT CCTGATCATCCATCCATCCATCCCGTTCATCCATCCATCCATCCCTCCCT CCATCCGTTCTATCCATCCCATCATCCCATCCATCCATCCATCCCATCCA TCCTATCCATCCCATCCATCCATCCATTCATCCCATCCATCCCA	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	3/22			chr10	TogoVar
AFF2_chrX_148495617_149005663	148581415	T T	TACACGTA others(713): Show TACACGTATATACGTATACGTGTACACACATATATATACACGTATATATA CGTATACGTGTACACACACACACGTATATATACGTATACGTGTACACACA CACGTATATATACGTATACGTGTACACACACACGTATATATACGTATACG TGTACACACACACGTATATATACGTATACGTGTACACACACACGTATATA TACGTATACGTGTACACACACACGTATATATACGTATACGTGTACACACA CACGTATATATACGTATACGTGTACACACACACGTATATACGTATACGTG TACACACACACACGTATATACGTATACGTGTACACACACATACACGTATA TACGTATACGTGTACACACATATACGTATACGTGTACACACATATACACG TATACGTGTACACACATATACACGTATACGTGTACACACATATACACGTA TACGTGTACACACATATACACGTATACGTGTACACACATATACACGTATA CGTGTACACACATATACACGTATACGTGTACACACATATACACGTATACG TGTACACACATATACACGTATACGTGTACACACATATACACGTATACGTG TACACACATATACACGTATACGTGTACACACATATACACGTATACGTGTA CACACATATACACGTATACGTCTACGTGTACACACATATACACGTATACG TCTACGTGTACACACATATAC	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	63	0.0159	720	c.48- others(737): Show c.48-70582_48-70581insACGTATATACGTATACGTGTACACACAT ATATATACACGTATATATACGTATACGTGTACACACACACACGTATATAT ACGTATACGTGTACACACACACGTATATATACGTATACGTGTACACACAC ACGTATATATACGTATACGTGTACACACACACGTATATATACGTATACGT GTACACACACACGTATATATACGTATACGTGTACACACACACGTATATAT ACGTATACGTGTACACACACACGTATATATACGTATACGTGTACACACAC ACGTATATACGTATACGTGTACACACACACACGTATATACGTATACGTGT ACACACACATACACGTATATACGTATACGTGTACACACATATACGTATAC GTGTACACACATATACACGTATACGTGTACACACATATACACGTATACGT GTACACACATATACACGTATACGTGTACACACATATACACGTATACGTGT ACACACATATACACGTATACGTGTACACACATATACACGTATACGTGTAC ACACATATACACGTATACGTGTACACACATATACACGTATACGTGTACAC ACATATACACGTATACGTGTACACACATATACACGTATACGTGTACACAC ATATACACGTATACGTGTACACACATATACACGTATACGTCTACGTGTAC ACACATATACACGTATACGTCTACGTGTACACACATATACAC	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AHCTF1_chr1_246834098_246936948	246868612	A A	AAAAAAAA others(713): Show AAAAAAAAAAAAAAAAAAGTTATTCTTTGTGTTTTCTAGAAGTTGGACAT GTGCCTTCAACTGAAATAGGAGTTCTTTCATTATGCATACACTAGTAAAT AAACAGTCAAATCTTCTAAGAAAGGCTTACATTTCTTGGGTTACAGAGCA GCCAATAAAAAAGTACCACGTGATGAATGAGTACAGGTCTACCTCATTTT ATTGTGCTTTGCTTCATTGTGTGTGTGTTTTTTGTTTTTTTTTTTTTTTG AGATGGAGTCTCGCTCTGTCACCCAGGTTGGAGTGCAGTGGTGTGATCTC GGCTCACTGCAAGTTCTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAG CCTGCTGAGTAGCTGGGACTACAGCCGCCCGCCACCACGCCTGGCTAACT TTTTCTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTC TCGATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACTGCGCCTGGCAATTTTTGTATTTTTAGTAGA GACAGGGTTTCACCATGTTGGCCAGACTGGTCTCAAACTCCGGGCCTCAA GTGATCCTCCCTCCTCGGCCTCTCAAAGTGCTGGGATAGAGGTGTGAGCC ACCGGCCTGGCCTACATTTTGTTTCATTATAGCTATGCTGGATTTAGGAA GTTGGGCTTTTGGTAAGTGGT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0020 a0001c0004t0020	a0001c0004t0020g0147 a0001c0004t0020g0147	1	374	0.0027	720	c.308 others(737): Show c.3089-802_3089-801insACCACTTACCAAAAGCCCAACTTCCTAA ATCCAGCATAGCTATAATGAAACAAAATGTAGGCCAGGCCGGTGGCTCAC ACCTCTATCCCAGCACTTTGAGAGGCCGAGGAGGGAGGATCACTTGAGGC CCGGAGTTTGAGACCAGTCTGGCCAACATGGTGAAACCCTGTCTCTACTA AAAATACAAAAATTGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATAGAAAAAGTTAGC CAGGCGTGGTGGCGGGCGGCTGTAGTCCCAGCTACTCAGCAGGCTGAGGC AGGAGAATGGCATGAACCCAGGAGGCAGAACTTGCAGTGAGCCGAGATCA CACCACTGCACTCCAACCTGGGTGACAGAGCGAGACTCCATCTCAAAAAA AAAAAAAAACAAAAAACACACACACAATGAAGCAAAGCACAATAAAATGA GGTAGACCTGTACTCATTCATCACGTGGTACTTTTTTATTGGCTGCTCTG TAACCCAAGAAATGTAAGCCTTTCTTAGAAGATTTGACTGTTTATTTACT AGTGTATGCATAATGAAAGAACTCCTATTTCAGTTGAAGGCACATGTCCA ACTTCTAGAAAACACAAAGAATAACTTTTTTTTTTTTTTTTT	AHCTF1	ENSG00000153207.16	transcript	ENST00000648844.2	protein_coding	24/35			chr1	TogoVar
AK3_chr9_4704556_4746202	4713900	C C	CTACACAT others(713): Show CTACACATATACACCTCCACATATACACACCTCCACATACACACCTCCAC ATATACACACCTCCACATATACACGCCTCCACATATACACGCCTCCACAT ATACACACCTACACATATACACCTACACATATACACGCCTACACATATAC ACGCCTACACATACACGCCTACACGTATACGCCTACACGTATACACCTAC ACGTATACACCTCCACATATACACACCTCCACATATACACACCTCCACAT ATACACACCTCCACATATACACCTACACATATACACACCTACACATATAC ACACCTACACATATACACCTACACATATACACACCTCCACATATACACCT ACACATACACACCTACACATATACACCTCCACATATACACACCTACACAT ATACACCTCCACATACACACACCTCCACATATACACACCTACACATACGC CTACACATATACGCCTACACATATACGCCTACACATATACGCCTACACAT ATACGCCTACACATATACGCCTCCACATATACACACCTCCACATATACAC ACCTCCACATATACACACCTCCACATATATGCCTACACATATACGCCTAC ACATATACGCCTACACATATACACACCTCCACATATACACACCTCCACAC CTCCACATATACACACCTCCACATATACACACCTCCACATATACACACCT CCACATATACGCCTACACATA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0221 a0001c0001t0027g0221	1	158	0.0063	720	c.564 others(735): Show c.564-805_564-804insTATGTGTAGGCGTATATGTGGAGGTGTGTA TATGTGGAGGTGTGTATATGTGGAGGTGTGTATATGTGGAGGTGTGGAGG TGTGTATATGTGGAGGTGTGTATATGTGTAGGCGTATATGTGTAGGCGTA TATGTGTAGGCATATATGTGGAGGTGTGTATATGTGGAGGTGTGTATATG TGGAGGTGTGTATATGTGGAGGCGTATATGTGTAGGCGTATATGTGTAGG CGTATATGTGTAGGCGTATATGTGTAGGCGTATATGTGTAGGCGTATGTG TAGGTGTGTATATGTGGAGGTGTGTGTATGTGGAGGTGTATATGTGTAGG TGTGTATATGTGGAGGTGTATATGTGTAGGTGTGTATGTGTAGGTGTATA TGTGGAGGTGTGTATATGTGTAGGTGTATATGTGTAGGTGTGTATATGTG TAGGTGTGTATATGTGTAGGTGTATATGTGGAGGTGTGTATATGTGGAGG TGTGTATATGTGGAGGTGTGTATATGTGGAGGTGTATACGTGTAGGTGTA TACGTGTAGGCGTATACGTGTAGGCGTGTATGTGTAGGCGTGTATATGTG TAGGCGTGTATATGTGTAGGTGTATATGTGTAGGTGTGTATATGTGGAGG CGTGTATATGTGGAGGCGTGTATATGTGGAGGTGTGTATATGTGGAGGTG TGTATGTGGAGGTGTGTATATGTGGAGGTGTATATGTGTA	AK3	ENSG00000147853.17	transcript	ENST00000381809.8	protein_coding	4/4			chr9	TogoVar
ANXA2_chr15_60342151_60402986	60349993	C C	CAGGGGAA others(713): Show CAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGG GAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGG CAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGG AAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGA GGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGA GGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCA GGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAA GGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGG GGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGG GAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGG GAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGG CAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGG AAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGA GGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGA GGCAGGGGAAGGCAGGGAGGG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0267 a0001c0001t0001g0267	1	143	0.0070	720	c.838 others(735): Show c.838-797_838-796insCCCTCCCTGCCTTCCCCTGCCTCCCTGCCT TCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCT GCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCT CCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCT CCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTC CCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGC CTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCC CTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCC CTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCC CTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCT TCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCT GCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCT CCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCT CCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTC CCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCT	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
ANXA2_chr15_60342151_60402986	60350083	G G	GAGGGGAA others(713): Show GAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGG GAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGG CAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGG AAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGA GGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGA GGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCA GGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAA GGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGG GGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGG GAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGG GAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGG CAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGG AAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGA GGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGA GGGAGGGGAAGGCAGGGAGGC	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	248	0.0040	720	c.838 others(735): Show c.838-887_838-886insGCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCT GCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCT CCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCT GCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTC CCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGC CTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCC CTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCC CTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCC CTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCT GCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCT CCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCT CCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTC CCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCT	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
ANXA2_chr15_60342151_60402986	60350083	G G	GAGGGGAA others(713): Show GAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGG GAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGG CAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGG AAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCA GGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGA GGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCA GGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAA GGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGA GGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGG GAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGG GAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGG CAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGG AAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGA GGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGA GGGAGGGGAAGGCAGGGAGGC	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	248	0.0040	720	c.838 others(735): Show c.838-887_838-886insGCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCT GCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCT CCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCT CCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTC CCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGC CTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCTCTGCCTCC CTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGC CTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCC CTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCT TCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCT GCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCT CCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCT CCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTC CCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCT	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
ARHGAP19_chr10_97217179_97297637	97251789	G G	GAAGGGAA others(713): Show GAAGGGAAGGGGAAGGGAAGGGAAGGGGAAGGGAAAGGGAAGGGAAAGGG AAGGGAAAGGGAAGGGAAGGGGAAGGGAAGGGAAAGGGAAGGGAAGGGAA GGAAAGGGAAGGGAAAGGGAAGGGAAGGGGAAAAGGAAGGGAAGGGGAAG GGAAGGGAAGGAAAGGGGAAAGGGAAGGGGAAAAGGAAGGGAAGGGGAAG GGAAGGGGAAGGGAAGGGGAAAAGGAAGGGAAGGGAAGGGGAAGGGAAGG GAAGGGAATGGGAAAAGGAAGGGGAAGGGAAAAGGAAGGGGAAGGGAAGG GGAAGGGAAAGGGAAGAAAGGAAGGGGAAGGGAAAGGGAAGGGAAGGGAA AGGGAAGGGAAAGGGAAAGGGGAAGGGGAAGGGGAAAGGGAAGGGGAAGG GGAAGGGAAGGGGAAGGGGAAAAGTAAGGGAAAGGAGAGGGGAAGGGAAA GGGAGGGGAAGGGAAGGGGAAGGGGAAGGAAAAGGAAGGGGAAGGGAAGG GGAGGGGGAAGTGAAGGGGTAGCAAAGGGAAAGAAAGGAAAGGGAAAAGG GAAGAGAGGGAGGGAGGGGAGGGAGGAAGGAAGGACGGATGGACGGACAG GACGAAAAAAAGAGAGGGGAGGGGAAGAGAGGGGAGGGGAGGGAAGAGAA GAAAAAGGGAAGGGAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGG AGGGAGGGAGGGAGAGAGGGA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0108 a0001c0001t0007g0108	1	5	0.2000	720	c.927 others(737): Show c.927+4528_927+4529insTCCCTCTCTCCCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTCCCTCCCTTCCTTCCTCCCTTCCCTTTTTCTTCTCTT CCCTCCCCTCCCCTCTCTTCCCCTCCCCTCTCTTTTTTTCGTCCTGTCCG TCCATCCGTCCTTCCTTCCTCCCTCCCCTCCCTCCCTCTCTTCCCTTTTC CCTTTCCTTTCTTTCCCTTTGCTACCCCTTCACTTCCCCCTCCCCTTCCC TTCCCCTTCCTTTTCCTTCCCCTTCCCCTTCCCTTCCCCTCCCTTTCCCT TCCCCTCTCCTTTCCCTTACTTTTCCCCTTCCCCTTCCCTTCCCCTTCCC CTTCCCTTTCCCCTTCCCCTTCCCCTTTCCCTTTCCCTTCCCTTTCCCTT CCCTTCCCTTTCCCTTCCCCTTCCTTTCTTCCCTTTCCCTTCCCCTTCCC TTCCCCTTCCTTTTCCCTTCCCCTTCCTTTTCCCATTCCCTTCCCTTCCC TTCCCCTTCCCTTCCCTTCCTTTTCCCCTTCCCTTCCCCTTCCCTTCCCC TTCCCTTCCTTTTCCCCTTCCCTTTCCCCTTTCCTTCCCTTCCCTTCCCC TTCCCTTCCTTTTCCCCTTCCCTTCCCTTTCCCTTCCCTTTCCTTCCCTT CCCTTCCCTTTCCCTTCCCTTCCCCTTCCCTTCCCTTTCCCTTCCCTTTC CCTTCCCTTTCCCTTCCCCTTCCCTTCCCTTCCCCTTCCCTT	ARHGAP19	ENSG00000213390.11	transcript	ENST00000358531.9	protein_coding	6/11			chr10	TogoVar
ARHGEF10L_chr1_17534698_17702869	17689483	C C	CCCTCCCT others(713): Show CCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCCCTCCCTCTCTCCCTCCCT GCCTCCTTCCCCCTCCCTCCCTCCCTCCCTGCCTCCTTCCCCCTCCCTCC CTCCCTCCCTGCCTCCTTCCCCCTCCCTCCCTCCCTCCCTGCCTCCCTCC CCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCCCTCCCTCTCTCCCTCCCT GCCTCCTTCCCCCTCCCTCTCTCCCTCCCTGCCTCCTTCCCCCTCCCTCT CTCCCTACCTGCCTCCCTCCCTCCCTCTCTCCCTCCCTGCCTCCTTCCCC CTCCCTCCCTCCCTCCCTGCCTCCTTCCCCCTCCCTCCCTCCCTCCCTGC CTCCCTCCCCCTCCCTCTCTCCCTCCCTGCCTCCCTCCCTCCCTCTCTCC CTCCCTGCCTCCTTCCCCCTCCCTCTCTCCCTCCCTGCCTCCCTCCCCCT CCCTCTCTCCCTCCCTGCCTCCTTCCCCCTCCCTCTCTCCCTCCCTGCCT CCTTCCCCTCCCTCTCTCCCTCCCTGCCTCCCTCCCCCTTCCTCCCTCCC TCCCTGCCTCCCTCCCCCTCCCTCCCTCCCTCCCTCTCTCCCTCCCTGCC TCCTTCCCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCTCTCCC TCCCTGCCTCCCTCCCCCTCCCTCCCTCCCTCCCTGTCTCCTTCCCCCCC TCTCTCCCTCCCTGCCTCCTT	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0089 a0002c0003t0002g0089	1	135	0.0074	720	c.318 others(739): Show c.3184+1737_3184+1738insCTCCCTCCCTCCCTCCCTGCCTCCCT CCCCCTCCCTCTCTCCCTCCCTGCCTCCTTCCCCCTCCCTCCCTCCCTCC CTGCCTCCTTCCCCCTCCCTCCCTCCCTCCCTGCCTCCTTCCCCCTCCCT CCCTCCCTCCCTGCCTCCCTCCCCCTCCCTCCCTCCCTCCCTGCCTCCCT CCCCCTCCCTCTCTCCCTCCCTGCCTCCTTCCCCCTCCCTCTCTCCCTCC CTGCCTCCTTCCCCCTCCCTCTCTCCCTACCTGCCTCCCTCCCTCCCTCT CTCCCTCCCTGCCTCCTTCCCCCTCCCTCCCTCCCTCCCTGCCTCCTTCC CCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCCCTCCCTCTCTCCCTCCCT GCCTCCCTCCCTCCCTCTCTCCCTCCCTGCCTCCTTCCCCCTCCCTCTCT CCCTCCCTGCCTCCCTCCCCCTCCCTCTCTCCCTCCCTGCCTCCTTCCCC CTCCCTCTCTCCCTCCCTGCCTCCTTCCCCTCCCTCTCTCCCTCCCTGCC TCCCTCCCCCTTCCTCCCTCCCTCCCTGCCTCCCTCCCCCTCCCTCCCTC CCTCCCTCTCTCCCTCCCTGCCTCCTTCCCCCTCCCTCCCTCCCTCCCTG CCTCCCTCCCTCCCTCTCTCCCTCCCTGCCTCCCTCCCCCTCCCTCCCTC CCTCCCTGTCTCCTTCCCCCCCTCTCTCCCTCCCTGCCTCCTTC	ARHGEF10L	ENSG00000074964.17	transcript	ENST00000361221.8	protein_coding	27/28		INFO_REALIGN_3_PRIME	chr1	TogoVar
ATP9B_chr18_79064394_79383283	79146069	G G	GGCTGCAT others(713): Show GGCTGCATGTCGGGGGAGCTGGCGGTGTGCAGAGTGACTGAAGGTGCAAG CTGCATGTCGGGGGAGCTGGCGGTGTGCAGAGTGACTGAAGGTGCAGGCT GCATGTCGGGGGAGCCGGCGGTGTGGAGAGTGACTGAAGGTGCAGGCTGC ATGTCGGGGGAGCTGGCGGTGTGGAGAGTGACTGAAGGTGCAGGCTGCAT GTCGGGGGAGCTGGCGGTGTGCAGAGTGACTGAAGGTGCAGGCTGCATGT CGGGGGAGCCGGCGGTGTGGAGAGTGACTGAAGGTGCAGGCTGCATGTCG GGGGAGCTGGCGGTGTGGAGAGTGACTGAAGGTGCAGGCTGCATGTCGGG GGAGCTGGCGGTGTGCACAGTGACTGAAGGTGCAAGCTGCATGTCGGGGG AGCTGGCGGTGTGCAGAGTGACTGAAGGTGCAGGCTGCATGTCGGGGGAG CTGACGGTGTGCAGAGTGACTGAAGGTGCAGGCTGCATGTCGGGGGAGCT GGCGGTGTGGAGAGTGACTGAAGGTGCAGGCTGCATGTCGGGGGAGCTGG CGGTGTGCAGAGTGACTGAAGGTGCAGGCTGCATGTCGGGGGAGCTGGCG GTGTGGAGAGTGACTGAAGGTGCAGGCTGCATGTCGGGGGAGCTGGCGGT GTGCAGAGTGACTGAAGGTGCAAGCTGCATGTCAGGGGAGCTGCCGGTGT GGAGAGTGACTGAAGGTGCAA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03209.hp2 HG02451.hp1 HG03209.hp2	a0005 a0005	a0005c0016 a0005c0016	a0005c0016t0001 a0005c0016t0001	a0005c0016t0001g0169 a0005c0016t0001g0171 a0005c0016t0001g0169 a0005c0016t0001g0171	2	293	0.0068	720	c.726 others(737): Show c.726+2231_726+2232insGGTGTGCAGAGTGACTGAAGGTGCAAGC TGCATGTCGGGGGAGCTGGCGGTGTGCAGAGTGACTGAAGGTGCAGGCTG CATGTCGGGGGAGCCGGCGGTGTGGAGAGTGACTGAAGGTGCAGGCTGCA TGTCGGGGGAGCTGGCGGTGTGGAGAGTGACTGAAGGTGCAGGCTGCATG TCGGGGGAGCTGGCGGTGTGCAGAGTGACTGAAGGTGCAGGCTGCATGTC GGGGGAGCCGGCGGTGTGGAGAGTGACTGAAGGTGCAGGCTGCATGTCGG GGGAGCTGGCGGTGTGGAGAGTGACTGAAGGTGCAGGCTGCATGTCGGGG GAGCTGGCGGTGTGCACAGTGACTGAAGGTGCAAGCTGCATGTCGGGGGA GCTGGCGGTGTGCAGAGTGACTGAAGGTGCAGGCTGCATGTCGGGGGAGC TGACGGTGTGCAGAGTGACTGAAGGTGCAGGCTGCATGTCGGGGGAGCTG GCGGTGTGGAGAGTGACTGAAGGTGCAGGCTGCATGTCGGGGGAGCTGGC GGTGTGCAGAGTGACTGAAGGTGCAGGCTGCATGTCGGGGGAGCTGGCGG TGTGGAGAGTGACTGAAGGTGCAGGCTGCATGTCGGGGGAGCTGGCGGTG TGCAGAGTGACTGAAGGTGCAAGCTGCATGTCAGGGGAGCTGCCGGTGTG GAGAGTGACTGAAGGTGCAAGCTGCATGTCGGGGGAGCTGGC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	6/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79146424	T T	TGGCGGTG others(713): Show TGGCGGTGTGGAGAGTGACTGAAGGTGCAGGCTGCATGTCGGGGGAGCTG GCGGTGTGCACAGTGACTGAAGGTGCAAGCTGCATGTCGGGGGAGCTGGC GGTGTGCAGAGTGACTGAAGGTGCAGGCTGCATGTCGGGGGAGCTGACGG TGTGCAGAGTGACTGAAGGTGCAGGCTGCATGTCGGGGAAGCTGGCGGTG TGGAGAGTGACTGAAGGTGCAGGCTGCATGTCGGGGGAGCTGGCGGTGTG CAGAGTGACTGAAGGTGCAGGCTGCATGTCGGGGGAGCTGGCGGTGTGGA GAGTGACTGAAGGTGCAGGCTGCATGTCGGGGGAGCTGGCGGTGTGCAGA GTGACTGAAGGTGCAAGCTGCATGTCAGGGGAGCTGCCGGTGTGGAGAGT GACTGAAGGTGCAAGCTGCATGTCGGGGGAGCTGGCGGTGTGCAGAGTGA CTGAAGGTGCGGGCTGCATGTCGGGGGAGCTGGCGGTGTGCAGAGTGACT GAAGGTGCGGGCTGCATGTCGGGGGAGCTGGCGGTGTGCAGAGTGACTGA AGGTGCGGGCTGCATGTCGGGGGAGCTGGCGGTGTGCAGAGTGACTGAAG GTGCGGGCTGCATGTCGGGGGAGCTGGCGGTGTGCACAGTGACTGAAGGT GCAAGCTGCATGTCGGGGGAGCTGGCGGTGTGCAGAGTGACTGAAGGTGC AGGCTGCATGTCGGGGGAGCC	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0242 a0002c0002t0002g0242	1	190	0.0053	720	c.726 others(737): Show c.726+2582_726+2583insTGAAGGTGCAGGCTGCATGTCGGGGGAG CTGGCGGTGTGCACAGTGACTGAAGGTGCAAGCTGCATGTCGGGGGAGCT GGCGGTGTGCAGAGTGACTGAAGGTGCAGGCTGCATGTCGGGGGAGCTGA CGGTGTGCAGAGTGACTGAAGGTGCAGGCTGCATGTCGGGGAAGCTGGCG GTGTGGAGAGTGACTGAAGGTGCAGGCTGCATGTCGGGGGAGCTGGCGGT GTGCAGAGTGACTGAAGGTGCAGGCTGCATGTCGGGGGAGCTGGCGGTGT GGAGAGTGACTGAAGGTGCAGGCTGCATGTCGGGGGAGCTGGCGGTGTGC AGAGTGACTGAAGGTGCAAGCTGCATGTCAGGGGAGCTGCCGGTGTGGAG AGTGACTGAAGGTGCAAGCTGCATGTCGGGGGAGCTGGCGGTGTGCAGAG TGACTGAAGGTGCGGGCTGCATGTCGGGGGAGCTGGCGGTGTGCAGAGTG ACTGAAGGTGCGGGCTGCATGTCGGGGGAGCTGGCGGTGTGCAGAGTGAC TGAAGGTGCGGGCTGCATGTCGGGGGAGCTGGCGGTGTGCAGAGTGACTG AAGGTGCGGGCTGCATGTCGGGGGAGCTGGCGGTGTGCACAGTGACTGAA GGTGCAAGCTGCATGTCGGGGGAGCTGGCGGTGTGCAGAGTGACTGAAGG TGCAGGCTGCATGTCGGGGGAGCCGGCGGTGTGGAGAGTGAC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	6/29		INFO_REALIGN_3_PRIME	chr18	TogoVar

Search by Variant

Search

Search Results