Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SPATA13_chr13_24155720_24312069	24190154	T T	TATAATGA others(500): Show TATAATGATATATAATATATATCATTATATAACATATAATGATATATAAT ATATATCATTATATAACATATAATGATATATAATATATATCATTATATAA CATATAATGATATATAATATATATCATTATATAACATATAATGATATATA ATATATATCATTATATAACATATAATGATATATAATATATATCATTATAT AACATATAATGATATATAATATATATCATTATATAACATATAATGATATA TAATATATATCATTATATAACATATAATGATATATAATATATATCATTAT ATAACATATAATGATATATAATATATATCATTATATAACATATAATGATA TATAATATATATCATTATATAACATATAATGATATATAATATATATCATT ATATAACATATAATGATATATAATATATATCATTATATAACATATAATGA TATATAATATATATCATATAACATATAATGATATATAATATATATCATAT AACATATG	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG04184.hp2 HG01106.hp1 HG04184.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0041 a0001c0002t0001 a0001c0002t0041	a0001c0002t0001g0066 a0001c0002t0041g0046 a0001c0002t0001g0066 a0001c0002t0041g0046	2	55	0.0364	507	c.-11 others(528): Show c.-112+29225_-112+29226insATGATATATAATATATATCATTAT ATAACATATAATGATATATAATATATATCATTATATAACATATAATGATA TATAATATATATCATTATATAACATATAATGATATATAATATATATCATT ATATAACATATAATGATATATAATATATATCATTATATAACATATAATGA TATATAATATATATCATTATATAACATATAATGATATATAATATATATCA TTATATAACATATAATGATATATAATATATATCATTATATAACATATAAT GATATATAATATATATCATTATATAACATATAATGATATATAATATATAT CATTATATAACATATAATGATATATAATATATATCATTATATAACATATA ATGATATATAATATATATCATTATATAACATATAATGATATATAATATAT ATCATTATATAACATATAATGATATATAATATATATCATATAACATATAA TGATATATAATATATATCATATAACATATGATA	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPATC1L_chr21_46156160_46189459	46161029	A A	AAGGGGAA others(500): Show AAGGGGAAGGGGGAAGGGGGAGGGGGAAGGGGGAGGGGGAGGGGGAGGGG GAGGTGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGTGGGAGGGG GAGGGGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGGAAGCGGGAA CGGGGGAGGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGGA GGGGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGAGATGGGGAGGG GGAGGGGGGAGGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGGGGGA GGGGAGATGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAAGGGGGAGGGGG AAGCGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGGGGGAGGGGGAGG GGGGAGGGGGAGGGGAGGGGGGAGGGGGAAGGGGGAGGGGGGAGGGGGAA GGGGGAGGGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGGGGAGGGGG AAGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0170 a0001c0001t0002g0170	1	12	0.0833	507	c.34 others(516): Show c.349_*350insCCCCGCTTCCCCCTCCCCCTCCCCCTCCCCATCTCC CCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCCTTCCCCCT CCCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCTCCCCAT CTCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCCTCCC CCCTCCCCCTCCCCATCTCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCT TCCCCCTCCCCCTCCCCCCTCCCCCTCCCCATCTCCCCTCCCCCGTTCCC GCTTCCCCCTCCCCCTTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCC CCTCCCCCTCCCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCGTTCCCGC TTCCCCCTCCCCCTTCCCCCTCCCCCTCCCACCTCCCCCTCCCCCTCCCC CTCCCCCTCCCCCTCCCACCTCCCCCTCCCCCTCCCCCTCCCCCTTCCCC CTCCCCCTTCCCCCTTCCCCT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		130		chr21	TogoVar
SPIRE2_chr16_89823475_89876319	89852271	T T	TGGCCCAT others(500): Show TGGCCCATCTTCCATCCTCCCCCCACCCCCCAGATCCCATGGCCCATCTT CCATCCTCCCCCCACCCACCAGATCCCATGGCCCATCTTCCATCCTCCCC CCACCCCCCAGATCCCATGGCCCATCTTCCATCCTCTCCCCACCCACCAG ATCCCATGGCCCATCTTCCATCCTCCCCCACCCCCCAGATCCCATGGCCC ATCTTCCATCCTCCCCCCACCCCCCAGATCCCATGGCCCATCTTCCATCC TCTCCCCACCCACCAGATCCCATGGCCCATCTTCCATCCTCCCCCCACCC CCCAGATCCCCTGGCCCATCTTCCATCCTCCCCCCACCCCCCATATTCCA TGGCCCATCTTCCATCCTCCCCCCACCCCCCAGATCCCATGGCCCATCTT CCATCCTCTCCCCACCCACCAGATCCCATGGCCCATCTTCCATCCTCCCT CTCACCCCCCATATTCCATGGCCCATCTTCCATCCTCCCCCCACCCCCCG GATCCCAC	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0230	1	353	0.0028	507	c.645 others(524): Show c.645+1629_645+1630insCCCCCACCCCCCAGATCCCATGGCCCAT CTTCCATCCTCCCCCCACCCACCAGATCCCATGGCCCATCTTCCATCCTC CCCCCACCCCCCAGATCCCATGGCCCATCTTCCATCCTCTCCCCACCCAC CAGATCCCATGGCCCATCTTCCATCCTCCCCCACCCCCCAGATCCCATGG CCCATCTTCCATCCTCCCCCCACCCCCCAGATCCCATGGCCCATCTTCCA TCCTCTCCCCACCCACCAGATCCCATGGCCCATCTTCCATCCTCCCCCCA CCCCCCAGATCCCCTGGCCCATCTTCCATCCTCCCCCCACCCCCCATATT CCATGGCCCATCTTCCATCCTCCCCCCACCCCCCAGATCCCATGGCCCAT CTTCCATCCTCTCCCCACCCACCAGATCCCATGGCCCATCTTCCATCCTC CCTCTCACCCCCCATATTCCATGGCCCATCTTCCATCCTCCCCCCACCCC CCGGATCCCACGGCCCATCTTCCATCCTC	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89852292	C C	CCCACCCC others(500): Show CCCACCCCCCAGATCCCCTGGCCCATCTTCCATCCTCCCTCCACCCCCCG GATCCCCTGGCCCATCTTCCATCCTCCCCCCACCCCCCGGATCCCCTGGC CCATCTTCCATCCTCCCCCCACCCCCCGGATCCCCTGGCCCATCTTCCAT CCTCCCCCCACCCCCCGGATCCCCTGGCCCATCTTCCATCCTCCCCCCAC CCCCCGGATCCCCTGGCCCATCTTCCATCCTCCCCCCACCCCCCGGATCC CATGGCCCATCTTCCGTCCTCTCCCCACCCCCCGGATCCCATGGCCCATC TTCCATCCTCCCTCCACCCCCCAGATCCCATGGCCCATCTTCCATCCTCC CTCCACCCCCCGGATCCCCTGGCCCATCTTCCATCCTCCCCCCACCCCCC GGATCCCATGGCCCATCTTCCGTCCTCTCCCCACCCCCCGGATCCCCTGG CCCATCTTCCATCCTCCCTCCACCCCCCAGATCCCATGGCCCATCTTCCA TCCTCCCT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0009 a0001c0009t0001g0009	1	338	0.0030	507	c.645 others(524): Show c.645+1638_645+1639insCCCAGATCCCCTGGCCCATCTTCCATCC TCCCTCCACCCCCCGGATCCCCTGGCCCATCTTCCATCCTCCCCCCACCC CCCGGATCCCCTGGCCCATCTTCCATCCTCCCCCCACCCCCCGGATCCCC TGGCCCATCTTCCATCCTCCCCCCACCCCCCGGATCCCCTGGCCCATCTT CCATCCTCCCCCCACCCCCCGGATCCCCTGGCCCATCTTCCATCCTCCCC CCACCCCCCGGATCCCATGGCCCATCTTCCGTCCTCTCCCCACCCCCCGG ATCCCATGGCCCATCTTCCATCCTCCCTCCACCCCCCAGATCCCATGGCC CATCTTCCATCCTCCCTCCACCCCCCGGATCCCCTGGCCCATCTTCCATC CTCCCCCCACCCCCCGGATCCCATGGCCCATCTTCCGTCCTCTCCCCACC CCCCGGATCCCCTGGCCCATCTTCCATCCTCCCTCCACCCCCCAGATCCC ATGGCCCATCTTCCATCCTCCCTCCACCC	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SRXN1_chr20_641615_658200	642230	T T	TGGGGGGG others(500): Show TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGG GTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGG AGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGAGGCCCAGCGGGGGTG GAGTTGCCTGGGGGGGGGTGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGG CCCAGCGGGGGTGGAGTTGCCTGTGGGGGGAGGCCCAGCGGGGGTGGAGT TGCCTGGGGGGGGGCCCAGCGGGGATGGGGTTGCCTGGGGGGGGGCCCAG CGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGG GGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGTGGGGGGCCCAGCGGGG GTGGAGTTGCCTGTGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGG GGGGCCCAGCAGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGA GTTGCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	80	0.0125	507	c.64 others(518): Show c.6483_*6484insCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAG GCAACTCCACCCCTGCTGGGCCCCCCCCCACAGGCAACTCCACCCCCGCT GGGCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCACCACAGGCA ACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCC CCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACCCCAT CCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCC ACAGGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGC TGGGCACCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCCCCA GGCAACTCCACCCCCGCTGGGCCTCCCCCCCCAGGCAACCCCACCCCCGC TGGGCCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCAGGCAACT CCACCCCCGCTGGGCCCCCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4384		chr20	TogoVar
SRXN1_chr20_641615_658200	642231	G G	GGGGGGGG others(500): Show GGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGG TGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGGA GGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGAGGCCCAGCGGGGGTGG AGTTGCCTGGGGGGGGGTGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGC CCAGCGGGGGTGGAGTTGCCTGTGGGGGGAGGCCCAGCGGGGGTGGAGTT GCCTGGGGGGGGGCCCAGCGGGGATGGGGTTGCCTGGGGGGGGGCCCAGC GGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGG GGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCGGGGGT GGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGG GCCCAGCGGGGGTGGAGTTGCCTGTGGTGGGGGGCCCAGCGGGGGTGGAG TTGCCTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0032 a0001c0001t0005g0032	1	414	0.0024	507	c.64 others(518): Show c.6482_*6483insACAGGCAACTCCACCCCCGCTGGGCCCCCCACCA CAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCAGGCAACTCCACCCCCG CTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCACAGG CAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGC CCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACCCCA TCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCC CACAGGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCG CTGGGCACCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCCCC AGGCAACTCCACCCCCGCTGGGCCTCCCCCCCCAGGCAACCCCACCCCCG CTGGGCCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCAGGCAAC TCCACCCCCGCTGGGCCCCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4383		chr20	TogoVar
TBXAS1_chr7_139824264_140025293	139950664	A A	ACCCTCCA others(500): Show ACCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGC CCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCC TCCATCTACGGGACCCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCT CCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCC ATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCAT CTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCT ACGGGACCCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTA CGGGACCCCCTCGCCCTCCATCTACGGGACCCCCCTCGCCCTCCATCTAC GGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGG GACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGA CCCCCTCG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	127	0.0079	507	c.451 others(524): Show c.451-2587_451-2586insCTCGCCCTCCATCTACGGGACCCCCTCG CCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCC CTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCT CCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCC ATCTACGGGACCCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCA TCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCCTCGCCCTCCAT CTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCT ACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTAC GGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGG GACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGA CCCCCTCGCCCTCCATCTACGGGACCCCC	TBXAS1	ENSG00000059377.19	transcript	ENST00000448866.7	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
TCF3_chr19_1604292_1657615	1627843	G G	GGGGGTGA others(500): Show GGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACGGGGGGTGAGGCGGGA AGGGGACAGCAGAACTCACGGGGTGAGGTGGGAAGGGGACAGCAGAGCTC ACGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGATGAGGCGG GAAGGGGACAGCAGAACTCACGGGGGGTGAGGCGGGAAGGGGACAGCAGA ACTCACGGGGTGAGGTGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCG GGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAG AACTCACGGGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACGGGGTGAG GTGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCA GAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGAG GCGGGAAGGGGACAGCAGAACTCACGGGGTGAGGTGGGAAGGGGACAGCA GAACTCAC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0184 a0001c0002t0002g0184	1	335	0.0030	507	c.299 others(522): Show c.299-418_299-417insGTGAGTTCTGCTGTCCCCTTCCCACCTCAC CCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCTG TCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCAC CCCGTGAGCTCTGCTGTCCCCTTCCCACCTCACCCCGTGAGTTCTGCTGT CCCCTTCCCGCCTCACCCCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCA CCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGC TGTCCCCTTCCCACCTCACCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTC ACCCCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCATCCCCTGTGAGCTC TGCTGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCCA CCTCACCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCCCGTGAGT TCTGCTGTCCCCTTCCCGCCTCACCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628639	A A	AGGCGGGA others(500): Show AGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAG CAGAGCTCACAGGGGATGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGG TGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGAC AGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGT GGGGCGGGAAGGGGACAGCAGAGCTCACAGGGGATGAGGCGGGAAGGGGA CAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGG GTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGGGGCGGGAAGGGGA CAGCAGAGCTCACAGGGGATGAGGCGGGAAGGGGACAGCAGAGCTCACAG GGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAA GGGGACAGCAGAGCTCACGGGGTGAGGTGGGAAGGGGACAGCAGAGCTCA CGGGGTGG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0036 a0001c0002t0036	a0001c0002t0036g0346 a0001c0002t0036g0346	1	342	0.0029	507	c.299 others(524): Show c.299-1214_299-1213insCCACCCCGTGAGCTCTGCTGTCCCCTTC CCACCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTG AGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCC TTCCCGCCTCATCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCC GTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCC CTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCATCCC CTGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCGTGAGCTCTGCTGTC CCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCC CGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCTGTC CCCTTCCCGCCTCATCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCAC CCCGTGAGCTCTGCTGTCCCCTTCCCGCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1629129	C C	CAGAGCTC others(500): Show CAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGATGA GGTGGGAAGGGGACAGTAGAGCTCACAGAGGGTGAGGCGGAAAGGGGACA GCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACGGGG TGAGGCGGGAAGGGGACAGCAAAACTCACGGGGTGGGGCGGGAAGGGGAC AGCAGAGCTCACAGGGGGTGAGGCAGGAAGGGGACAGCAGAGCTCATGGG GATGGGGTGGGAAGGGGACAGCAGAGCTCACGGGGTGGGGCGGGAAGGGG ACAGCAGAGCTCACAGGGGATGAGGCGGGAAGGGGACAGCAGAGCTCATG GGGTGAGGCGGGAAGGGGACAGCAGAGCTCATGGGGGTGGGGCGGGAAGG GGACAGCAGAGCTCACAGGGGGTGGAGCGGGAAGGGGACAGCAGAGCTCA TGGGGATGGGGTGGGAAGGGGACAGCAGAGCTCACGGGTGGGGCGGGAAG GGGACAGA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0018 a0005c0010t0018	a0005c0010t0018g0171 a0005c0010t0018g0171	1	174	0.0057	507	c.299 others(524): Show c.299-1704_299-1703insTCTGTCCCCTTCCCGCCCCACCCGTGAG CTCTGCTGTCCCCTTCCCACCCCATCCCCATGAGCTCTGCTGTCCCCTTC CCGCTCCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCCAT GAGCTCTGCTGTCCCCTTCCCGCCTCACCCCATGAGCTCTGCTGTCCCCT TCCCGCCTCATCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCG TGAGCTCTGCTGTCCCCTTCCCACCCCATCCCCATGAGCTCTGCTGTCCC CTTCCTGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCC CGTGAGTTTTGCTGTCCCCTTCCCGCCTCACCCCGTGAGTTCTGCTGTCC CCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTTCCGCCTCACC CTCTGTGAGCTCTACTGTCCCCTTCCCACCTCATCCCGTGAGCTCTGCTG TCCCCTTCCCGCCTCACCCCGTGAGCTCT	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TGM2_chr20_38122385_38170270	38124008	A A	ATATATAA others(500): Show ATATATAATATACCTATTATATACATTATATATAATATACCTATTATATG CATTATATATAATATACCTATTATATGCATTATATATAATATACCTATTA TATGCATTATATATAATATACCTATTATATGCATTATATAATATATTATA TATAATATGCATATTATATGTATTATATATTATATATTATATATAATATA CATATTATATGTATTATATATAATATATTATATATATAATATACATATTA TATGTATTATATATTACATATAATATACATATTATATATTATATATTATA TACATATTATATATTATATATTATATACATATTATATATTATATACATAT TATATATTATATATTATATACATATTATACATTATATATATCTAAAATAT ATAATACACATTATATATTATATAATACACATTATATATTATATATAATA CACATTATATATAATATATAATACACATTATATATTATATATAATACACA TTATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp2 HG01891.hp1 HG02976.hp2 HG01361.hp2 HG01891.hp1 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0122 a0001c0001t0005g0151 a0001c0001t0005g0197 a0001c0001t0005g0122 a0001c0001t0005g0151 a0001c0001t0005g0197	3	324	0.0093	507	c.62 others(518): Show c.6210_*6211insATATATAATGTGTATTATATATAATATATAATGT GTATTATATATTATATATAATGTGTATTATATATAATATATAATGTGTAT TATATAATATATAATGTGTATTATATATTTTAGATATATATAATGTATAA TATGTATATAATATATAATATATAATATGTATATAATATATAATATGTAT ATAATATATAATATATAATATGTATATAATATATAATATATAATATGTAT ATTATATGTAATATATAATACATATAATATGTATATTATATATATAATAT ATTATATATAATACATATAATATGTATATTATATATAATATATAATATAT AATACATATAATATGCATATTATATATAATATATTATATAATGCATATAA TAGGTATATTATATATAATGCATATAATAGGTATATTATATATAATGCAT ATAATAGGTATATTATATATAATGCATATAATAGGTATATTATATATAAT GTATATAATAGGTATATTATATA	TGM2	ENSG00000198959.12	transcript	ENST00000361475.7	protein_coding		3376		chr20	TogoVar
THAP4_chr2_241579405_241642158	241591138	T T	TCAGAGCT others(500): Show TCAGAGCTGCTCGGCTGATGATGATGGGCACTAGGACACACAGAGCTGCT CGGCTGATGATGATGGGCACTAGGACACTCAGAGCTGCTCGGCTGATGAT GATGGGCACTAGGACACGCAGAGCTGCTCGGCTGATGATGATGGGCAGTA GGACACTCAGAGCTGCCCGGCTGATGATGATGGGCACTAGGACACACAGA ACTGCTCGGCTGACGATGATGGGCACTAGGACACACAGAACTGCCCGGCT GACGATGATGGGCACTAGGACACTCAGAGCTGCTCGGCTGACGATGATGG GCACTAGGACACACAGAGCTGCTCGGCTGACGATGATGGGCACTAGGACA CACAGAGCTGCTCGGCTGACGATGATGGGCACTAGGACACGCAGAGCTGC TCGGCTGACGATGATGGGCACTAGGACACACAGAACTGCCCGGCTGACGA TGATGGGCACTAGGACACTCAGAGCTGCTCGGCTGATGATGATGGGCACT AGGACAGA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0067 a0002c0003t0001g0067	1	242	0.0041	507	c.161 others(526): Show c.1615-6414_1615-6413insTCTGTCCTAGTGCCCATCATCATCAG CCGAGCAGCTCTGAGTGTCCTAGTGCCCATCATCGTCAGCCGGGCAGTTC TGTGTGTCCTAGTGCCCATCATCGTCAGCCGAGCAGCTCTGCGTGTCCTA GTGCCCATCATCGTCAGCCGAGCAGCTCTGTGTGTCCTAGTGCCCATCAT CGTCAGCCGAGCAGCTCTGTGTGTCCTAGTGCCCATCATCGTCAGCCGAG CAGCTCTGAGTGTCCTAGTGCCCATCATCGTCAGCCGGGCAGTTCTGTGT GTCCTAGTGCCCATCATCGTCAGCCGAGCAGTTCTGTGTGTCCTAGTGCC CATCATCATCAGCCGGGCAGCTCTGAGTGTCCTACTGCCCATCATCATCA GCCGAGCAGCTCTGCGTGTCCTAGTGCCCATCATCATCAGCCGAGCAGCT CTGAGTGTCCTAGTGCCCATCATCATCAGCCGAGCAGCTCTGTGTGTCCT AGTGCCCATCATCATCAGCCGAGCAGCTCTG	THAP4	ENSG00000176946.13	transcript	ENST00000407315.6	protein_coding	5/5			chr2	TogoVar
TSHZ2_chr20_52967358_53500330	53204252	T T	TATGATGA others(500): Show TATGATGATCTGATATACTATATCATCATATGATGATATGATATACTATA TCATCATATGATGATATGATATACTATATCATCATATGATGATATGATAT ACTATATCATCATATGATGATATGATATACTATATCATCATATGATGATA TGATATACTATATCATCATATGATGATATGATATACTATATCATCATATG ATGATATGATATACTATATCATCATATGATGATATGATATACTATATCAT CATATGATGATATGATATACTATATCATCATATGATGATATGATACACTA TATCATCATATGATGATATACTATATCATCATATGATGATATGATACTAT ATCATCATATGATGATATGATACTATATCATCATATGATGATATGATACT ATATCATCATATAACATGATGATATGATACTATATCATCATATAACATGA TGATATGATACTATATCATCATATAACATGATGATATGATACTATATCAT CATATAAC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0018 a0006c0010t0018	a0006c0010t0018g0144 a0006c0010t0018g0144	1	87	0.0115	507	c.41- others(524): Show c.41-49239_41-49238insCTGATATACTATATCATCATATGATGAT ATGATATACTATATCATCATATGATGATATGATATACTATATCATCATAT GATGATATGATATACTATATCATCATATGATGATATGATATACTATATCA TCATATGATGATATGATATACTATATCATCATATGATGATATGATATACT ATATCATCATATGATGATATGATATACTATATCATCATATGATGATATGA TATACTATATCATCATATGATGATATGATATACTATATCATCATATGATG ATATGATACACTATATCATCATATGATGATATACTATATCATCATATGAT GATATGATACTATATCATCATATGATGATATGATACTATATCATCATATG ATGATATGATACTATATCATCATATAACATGATGATATGATACTATATCA TCATATAACATGATGATATGATACTATATCATCATATAACATGATGATAT GATACTATATCATCATATAACATGATGAT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
TTC16_chr9_127711079_127736590	127720831	T T	TTCCCCCT others(500): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC TTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCC TTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTT CCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCC TCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCC CTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTT CTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCC CCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTAT CCCTCCTCCCTTCCTCCCTTCCCCCTTCCACCCTTCCCCCTTACCCCCTT CCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCT TTCCTTTC	intron_variant intron_variant	MODIFIER	HG02258.hp1 NA19043.hp1 NA19240.hp2 HG02258.hp1 NA19043.hp1 NA19240.hp2	a0001 a0022 a0001 a0022	a0001c0002 a0022c0029 a0001c0002 a0022c0029	a0001c0002t0002 a0022c0029t0002 a0001c0002t0002 a0022c0029t0002	a0001c0002t0002g0025 a0022c0029t0002g0101 a0001c0002t0002g0025 a0022c0029t0002g0101	3	10	0.3000	507	c.657 others(522): Show c.657+440_657+441insCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCC CTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTT CCCCCTTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCC GTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTC CCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCC CCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTC CCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCC CCCTTTCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCCTTCCACCCTT CCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCC TTCCTCCCTCCTCCTTTCCTTTCTCCC	TTC16	ENSG00000167094.16	transcript	ENST00000373289.4	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
TWIST2_chr2_238843085_238915534	238909177	A A	AGTGTGTG others(500): Show AGTGTGTGGTATGTTTGTGTGGTGTGTGTGTGTATGTGGGGGTGTGGTGT GTTCGTGGGTGTGGTATGTGTATGTGGTGTGTATGTAGTGTGGGGTGTGT GTAGTGTGTGGTATGTTTGGTGTGTGTTTGTGTATGTGGAGGTGTGGTGT GTTTGTGGTTGTGGTATGTGTATGTGGTGTGTATGTAGTGGGTGTGTGTA GTGTGTGGTATGTTTGGTGTGTGTGTATGTGGGGGTGGGGTGTGTTTGTG GGTGTGGTATGTGTATGTGGTGTGTAGTGTGGGGTGTGTGTAGTGTGTGG TATGTTTGTGTGGTGTGTGTGTGTGTATGTGGGGGTGGGGGTGTGGTGTG TTCGTGGGTGTGGTATGTGTATGTGGTGTGTATGTAGTGTGGGGTGTGTG TAGTGTGTGGTATGTTTGGTGTGTGTGTATGTGGGGGTGGGGTGTGTTCG TGGGTGTGGTATGTGGTGTGTATGTAGTGTGGGGTGTGTGTAGTGTGGGG TGTGTGTT	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0274 a0001c0001t0001g0274	1	336	0.0030	507	c.36 others(522): Show c.36-649_*36-648insTGTGGTGTGTGTGTGTATGTGGGGGTGTGG TGTGTTCGTGGGTGTGGTATGTGTATGTGGTGTGTATGTAGTGTGGGGTG TGTGTAGTGTGTGGTATGTTTGGTGTGTGTTTGTGTATGTGGAGGTGTGG TGTGTTTGTGGTTGTGGTATGTGTATGTGGTGTGTATGTAGTGGGTGTGT GTAGTGTGTGGTATGTTTGGTGTGTGTGTATGTGGGGGTGGGGTGTGTTT GTGGGTGTGGTATGTGTATGTGGTGTGTAGTGTGGGGTGTGTGTAGTGTG TGGTATGTTTGTGTGGTGTGTGTGTGTGTATGTGGGGGTGGGGGTGTGGT GTGTTCGTGGGTGTGGTATGTGTATGTGGTGTGTATGTAGTGTGGGGTGT GTGTAGTGTGTGGTATGTTTGGTGTGTGTGTATGTGGGGGTGGGGTGTGT TCGTGGGTGTGGTATGTGGTGTGTATGTAGTGTGGGGTGTGTGTAGTGTG GGGTGTGTGTTGTGTGTGGTATGTTTG	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
VCX3B_chrX_8459830_8471510	8467096	G G	GGAGGGAG others(500): Show GGAGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAG GGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGT GTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGG GAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTG TGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGG GAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGG TGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGGGGAGGGAGGGAG GGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGT GGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGA GGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTG TGTGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0001 a0005c0004t0001	a0005c0004t0001g0009 a0005c0004t0001g0009	1	184	0.0054	507	c.71 others(516): Show c.713_*714insGAGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGA GGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAG GAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGG GGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGG AAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGG GGAGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGG GAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTG GGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAG GAAGAGGTGGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGT GGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGA GGAAGAGGTGGTGTGTGGGGA	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		587		chrX	TogoVar
VWA2_chr10_114234254_114299489	114253198	T T	TCCTCTCC others(500): Show TCCTCTCCCCTCCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCTCCT CCCCCTCCCCTCTCCTCCTCTCCCCTCTCCTCCTCTCCCCTCCTCTCCCC TCCCCTCCCCCTCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTCCCCCTC TCCCCTCCCCCTCTCCCCTCCCCCTGTCCCCCTCCTCTCCCCCTCTCCCC TCCCCCTCTCCTCTCCCCCTCCCCCTCCTCTCCCCCTCTCCCCCTCCCCC TCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCC TCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCTCCCCC TCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCC TCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTTTCCCCCCTCCCT TCCCCCTC	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA19088.hp1 NA18954.hp2 NA19088.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0004 a0001c0001t0001 a0004c0004t0004	a0001c0001t0001g0156 a0004c0004t0004g0125 a0001c0001t0001g0156 a0004c0004t0004g0125	2	34	0.0588	507	c.53- others(520): Show c.53-442_53-441insCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCTCCTCCCCCTCCCCTCTCCTCCTCTCCCCTCTCCTCCTCTCCCCTCCT CTCCCCTCCCCTCCCCCTCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTC CCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTGTCCCCCTCCTCTCCCCCT CTCCCCTCCCCCTCTCCTCTCCCCCTCCCCCTCCTCTCCCCCTCTCCCCC TCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTC TCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTC TCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTC TCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTTTCCCCC CTCCCTTCCCCCTCCCTCTCCCCTC	VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
VWA2_chr10_114234254_114299489	114253198	T T	TCCTCTCC others(500): Show TCCTCTCCCCTCCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTC CCCTCCCCTCCCCCTCCCCTCCTCCTCCCCCTCCCCTCTCCTCCTCTCCC CTCTCCTCCTCTCCCCTCCTCTCCCCTCCCCTCCCCCTCTCCCCCTCCTC TCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCC TGTCCCCCTCCTCTCCCCCTCTCCCCTCCCCCTCTCCTCTCCCCCTCCTC TCCCCCTCTCCCCCTCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCT CCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCTCCCCC TCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCC TCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTTTCCCCCCTCCCT TCCCCCTC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0062 a0002c0002t0002g0062	1	33	0.0303	507	c.53- others(520): Show c.53-442_53-441insCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCT CCCCTCCCCTCCCCTCCCCCTCCCCTCCTCCTCCCCCTCCCCTCTCCTCC TCTCCCCTCTCCTCCTCTCCCCTCCTCTCCCCTCCCCTCCCCCTCTCCCC CTCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCC TCCCCCTGTCCCCCTCCTCTCCCCCTCTCCCCTCCCCCTCTCCTCTCCCC CTCCTCTCCCCCTCTCCCCCTCCCCTCTCCCCCTCCCCCTCTCCCCCTCC CCCTCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTC TCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTC TCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTTTCCCCC CTCCCTTCCCCCTCCCTCTCCCCTC	VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
VWA2_chr10_114234254_114299489	114253198	T T	TCCTCTCC others(500): Show TCCTCTCCCCTCCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCTCCTCCCCCTCCCCTCTCCTCCTCTC CCCTCTCCTCCTCTCCCCTCCTCTCCCCTCCCCTCCCCCTCTCCCCCTCC TCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCC CCTGTCCCCCTCCTCTCCCCCTCTCCCCTCCCCCTCTCCTCTCCCCCTCC TCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCC TCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCC TCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCC TCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCC TCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTTTCCCCCCTCCCT TCCCCCTC	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0004 a0005c0005t0004	a0005c0005t0004g0136 a0005c0005t0004g0136	1	33	0.0303	507	c.53- others(520): Show c.53-442_53-441insCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCTCCTCCCCCTCCCCTCTCCT CCTCTCCCCTCTCCTCCTCTCCCCTCCTCTCCCCTCCCCTCCCCCTCTCC CCCTCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCC CCTCCCCCTGTCCCCCTCCTCTCCCCCTCTCCCCTCCCCCTCTCCTCTCC CCCTCCTCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCC TCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTC TCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTC TCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTC TCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTTTCCCCC CTCCCTTCCCCCTCCCTCTCCCCTC	VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
ZFPM1_chr16_88448280_88542031	88501080	G G	GGGGCCCT others(500): Show GGGGCCCTCCCGCCAGTGCTGGTGATGATGGAGATAGCAGACATGGGTGC GGGGCCATCCCGCAGGTGCTGGTGATGATGGAGATAGCGGTCATGGGTGC GTGGGCCATCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACATGGGTG CGTGGGCCCTCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACATGGGT GCATGGGCTCTCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACATGGG TGCGGGGGCCATCCCGCAGGTGCTGGTGATGATGGAGATAGCGGTCATGG GTGCGTGGGCCATCCCGCAGGTGCTGGTGATGATGGAGATAGTGGGCCTG GGTGCGGGGGCCCTCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACAT GGGTGCGGGGGCCCTCCCGCAGGTGCTGGTGATGATGGAGATAGCGGGTG TGGGTGCATGGGCTCTCCCGCAGGTGCTGGTGATGATGGAGATAGCAGAC ATGGGTGC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0062 a0005c0007t0062	a0005c0007t0062g0294 a0005c0007t0062g0294	1	302	0.0033	507	c.268 others(526): Show c.268+11930_268+11931insCCCTCCCGCCAGTGCTGGTGATGATG GAGATAGCAGACATGGGTGCGGGGCCATCCCGCAGGTGCTGGTGATGATG GAGATAGCGGTCATGGGTGCGTGGGCCATCCCGCAGGTGCTGGTGATGAT GGAGATAGCAGACATGGGTGCGTGGGCCCTCCCGCAGGTGCTGGTGATGA TGGAGATAGCAGACATGGGTGCATGGGCTCTCCCGCAGGTGCTGGTGATG ATGGAGATAGCAGACATGGGTGCGGGGGCCATCCCGCAGGTGCTGGTGAT GATGGAGATAGCGGTCATGGGTGCGTGGGCCATCCCGCAGGTGCTGGTGA TGATGGAGATAGTGGGCCTGGGTGCGGGGGCCCTCCCGCAGGTGCTGGTG ATGATGGAGATAGCAGACATGGGTGCGGGGGCCCTCCCGCAGGTGCTGGT GATGATGGAGATAGCGGGTGTGGGTGCATGGGCTCTCCCGCAGGTGCTGG TGATGATGGAGATAGCAGACATGGGTGCGGG	ZFPM1	ENSG00000179588.9	transcript	ENST00000319555.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
ZNF365_chr10_62369369_62407450	62370839	C C	CATATATC others(500): Show CATATATCACACATATGATATACACATCATATATCACACATATGATATAC ACATCATATATCACACATATGATATACACATCATATATCACACATATGAT ATACATCATATATCACACATATGATATACATCATATATCACACATATGAT ATATATCATACATATCACACATATCATATATATCATACATATCACACATA TCATATATATCATACATATCACACATATCATATATATCATACATATCACA CATATCATATATATCATACATATCACATATATCATATATATCATATATAT CACATATATGATATATATATCATATATATCACATATATGATATATATATC ATATATATCACATATATGATATATATATCATATATATCACATATATGATA TATATATCATATATATCACATATATGATATATATATCATATATATCACAT ATATGATATATATATCATATATATCACATATATGATATATATATCATATA TATCACAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0067 a0001c0001t0023g0067	1	344	0.0029	507	c.-36 others(518): Show c.-3633_-3632insATATATCACACATATGATATACACATCATATATC ACACATATGATATACACATCATATATCACACATATGATATACACATCATA TATCACACATATGATATACATCATATATCACACATATGATATACATCATA TATCACACATATGATATATATCATACATATCACACATATCATATATATCA TACATATCACACATATCATATATATCATACATATCACACATATCATATAT ATCATACATATCACACATATCATATATATCATACATATCACATATATCAT ATATATCATATATATCACATATATGATATATATATCATATATATCACATA TATGATATATATATCATATATATCACATATATGATATATATATCATATAT ATCACATATATGATATATATATCATATATATCACATATATGATATATATA TCATATATATCACATATATGATATATATATCATATATATCACATATATGA TATATATATCATATATATCACAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3529		chr10	TogoVar
ABCB11_chr2_168915781_169036324	168975506	G G	GATAAATA others(501): Show GATAAATATATAAATATATAAATATTTTTATATTTATAGATAAATATATA AATATATAAATATTTTTATATTTATAGATAAATATATAAATATATAAATA TTTTTATATTTATAGATAAATATATAAATATATAAATATTTTTATATTTA TAGATAAATATATAAATATATAAATATTTTTATATTTATAGATAAATATA TAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTA TATTTATAGATAAATATATAAATATTTTTATATTTATAGATAAATATATA AATATTTTTATATTTATAGATAAATATATAAATATATAAATATTTTTATA TTTATAGATAAATATATAAATATTTTTATATTTATAGATAAATATATAAA TATATAAATATTTTTATATTTATAGATAAATATATAAATATATAAATATT TTTATATTTATAGATAAATATATAAATATATAAATATTTTTATATTTATA GATAAATAT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0007 a0002c0012t0007	a0002c0012t0007g0073 a0002c0012t0007g0073	1	253	0.0040	508	c.130 others(527): Show c.1308+1070_1308+1071insATATTTATCTATAAATATAAAAATAT TTATATATTTATATATTTATCTATAAATATAAAAATATTTATATATTTAT ATATTTATCTATAAATATAAAAATATTTATATATTTATATATTTATCTAT AAATATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTATAT ATTTATATATTTATCTATAAATATAAAAATATTTATATATTTATCTATAA ATATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTATATAT TTATCTATAAATATAAAAATATTTATATATTTATATATTTATCTATAAAT ATAAAAATATTTATATATTTATATATTTATCTATAAATATAAAAATATTT ATATATTTATATATTTATCTATAAATATAAAAATATTTATATATTTATAT ATTTATCTATAAATATAAAAATATTTATATATTTATATATTTATCTATAA ATATAAAAATATTTATATATTTATATATTTAT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ADAMTS19_chr5_129455298_129743683	129549914	G G	GTATCTAG others(501): Show GTATCTAGATATACATATACATGTATATGTATATCTAGATATACATATAC ATGTATATGTATATCTAGATATACATATACATGTATCTGTATATGTATGT ATCTAGATATACATATACATGTATCTGTATATGTATGTATCTAGATATAC ATATACATGTATCTGTATATGTATGTATCTAGATATACATATACATGTAT CTGTATATGTATGTATCTAGATATACATATACATGTATCTGTATATGTAT GTATCTAGATATACATATACATGTATCTGTATATGTATGTATCTAGATAT ACATATACATGTATCTGTATATGTATGTATCTAGATATACATATACATGT ATCTGTATATGTATGTATCTAGATATACATATACATGTATCTGTATATGT ATGTATCTAGATATACATATACATGTATCTGTATATGTATGTATCTAGAT ATACATATACATGTATCTGTATATGTATGTATCTAGATATACATATACAT GTATCTGTA	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	126	0.0079	508	c.132 others(527): Show c.1329-1947_1329-1946insCTAGATATACATATACATGTATATGT ATATCTAGATATACATATACATGTATATGTATATCTAGATATACATATAC ATGTATCTGTATATGTATGTATCTAGATATACATATACATGTATCTGTAT ATGTATGTATCTAGATATACATATACATGTATCTGTATATGTATGTATCT AGATATACATATACATGTATCTGTATATGTATGTATCTAGATATACATAT ACATGTATCTGTATATGTATGTATCTAGATATACATATACATGTATCTGT ATATGTATGTATCTAGATATACATATACATGTATCTGTATATGTATGTAT CTAGATATACATATACATGTATCTGTATATGTATGTATCTAGATATACAT ATACATGTATCTGTATATGTATGTATCTAGATATACATATACATGTATCT GTATATGTATGTATCTAGATATACATATACATGTATCTGTATATGTATGT ATCTAGATATACATATACATGTATCTGTATAT	ADAMTS19	ENSG00000145808.10	transcript	ENST00000274487.9	protein_coding	6/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
AFF2_chrX_148495617_149005663	148581249	C C	CATATACG others(501): Show CATATACGTATACGTATACACACATATACGTATACGTATACACACATATA CACGTATACGTATACACACATATACACGTATACGTATACGTGTACACACA TATACACGTATATACGTATACGTGTACACACATATACACGTATATACGTA TACGTGTACACACATATATATACACGTATATATACGTATACGTGTACACA CACACACGTATATATACGTATACGTGTACACACACACGTATATATACGTA TACGTGTACACACACACGTATATATACGTATACGTGTACACACACGTATA TATACGTATACGTGTACACACACACGTATATATACGTATACGTGTACACA CACACGTATATATACGTATACGTGTACACACACACGTATATACGTATACG TGTACACACACACACGTATATACGTATACGTGTACACACACACGTATATA CGTATACGTGTACACACACATACACGTATATACGTATACGTGTACACACA CATACACGT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0035 a0001c0007t0035	a0001c0007t0035g0163 a0001c0007t0035g0163	1	112	0.0089	508	c.48- others(525): Show c.48-70736_48-70735insATACACACATATACGTATACGTATACAC ACATATACACGTATACGTATACACACATATACACGTATACGTATACGTGT ACACACATATACACGTATATACGTATACGTGTACACACATATACACGTAT ATACGTATACGTGTACACACATATATATACACGTATATATACGTATACGT GTACACACACACACGTATATATACGTATACGTGTACACACACACGTATAT ATACGTATACGTGTACACACACACGTATATATACGTATACGTGTACACAC ACGTATATATACGTATACGTGTACACACACACGTATATATACGTATACGT GTACACACACACGTATATATACGTATACGTGTACACACACACGTATATAC GTATACGTGTACACACACACACGTATATACGTATACGTGTACACACACAC GTATATACGTATACGTGTACACACACATACACGTATATACGTATACGTGT ACACACACATACACGTATATACGTATACGT	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AGMO_chr7_15195317_15567015	15529638	A A	ATATAGTA others(501): Show ATATAGTATATATATTCTATATACAGAATATATATAGTATATATATTCTA TATACAGAATATATATAGTATATATATTCTATATACAGAATATATATACT ATATATATTCTATATACAGAATATATATAGTATATATATTCTATATACAG AATATATATACTATATATATTCTATATACAGAATATATATAGTATATATA TTCTATATACAGAATATATATAGTATATATATTCTGTATACAGAATATAT AGTATATATATTCTGTATACAGAATATATAGTATATATATTCTATATACA GAATATATATAGTATATATATTCTGTATACAGAATATATATACTATATAT ATTCTATATACAGAATATATATACTATATATATTCTATATATAGAATATA TATACTATATATATTCTGTATATAGAATATATATAGTATATATATTCTGT ATATAGAATATATATAGTATATATATTCTGTATATAGAATATATATACTA TATTAATTC	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	57	0.0175	508	c.409 others(527): Show c.409+15133_409+15134insGAATTAATATAGTATATATATTCTAT ATACAGAATATATATACTATATATATTCTATATACAGAATATATATACTA TATATATTCTATATACAGAATATATATAGTATATATATTCTATATATAGA ATATATATAGTATATATATTCTGTATATAGAATATATATAGTATATATAT TCTGTATACAGAATATATATACTATATATATTCTGTATATAGAATATATA TACTATATATTCTGTATACAGAATATATATACTATATATTCTGTATACAG AATATATATACTATATATATTCTGTATATAGAATATATATACTATATATA TTCTGTATATAGAATATATATAGTATATATATTCTGTATATAGAATATAT ATACTATATATATTCTGTATATAGAATATATATAGTATATATATTCTGTA TATAGAATATATATACTATATATATTCTGTATATAGAATATATATACTAT ATATATTCTGTATATAGAATATATATACTATA	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
AGMO_chr7_15195317_15567015	15529638	A A	ATATAGTA others(501): Show ATATAGTATATATATTCTATATACAGAATATATATAGTATATATATTCTA TATACAGAATATATATAGTATATATATTCTATATACAGAATATATATACT ATATATATTCTATATACAGAATATATATAGTATATATATTCTATATACAG AATATATATACTATATATATTCTATATACAGAATATATATAGTATATATA TTCTATATACAGAATATATATAGTATATATATTCTGTATACAGAATATAT AGTATATATATTCTGTATACAGAATATATAGTATATATATTCTATATACA GAATATATATAGTATATATATTCTGTATACAGAATATATATACTATATAT ATTCTATATACAGAATATATATACTATATATATTCTATATATAGAATATA TATAGTATATATATTCTGTATATAGAATATATATAGTATATATATTCTGT ATATAGAATATATATAGTATATATATTCTGTATATAGAATATATATACTA TATTAATTC	intron_variant intron_variant	MODIFIER	HG00423.hp1 NA19078.hp1 HG00423.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0002 a0001c0001t0009	a0001c0001t0002g0109 a0001c0001t0009g0108 a0001c0001t0002g0109 a0001c0001t0009g0108	2	58	0.0345	508	c.409 others(527): Show c.409+15133_409+15134insGAATTAATATAGTATATATATTCTAT ATACAGAATATATATACTATATATATTCTATATACAGAATATATATACTA TATATATTCTATATACAGAATATATATACTATATATATTCTATATATAGA ATATATATAGTATATATATTCTGTATATAGAATATATATAGTATATATAT TCTGTATACAGAATATATATACTATATATATTCTGTATATAGAATATATA TACTATATATTCTGTATACAGAATATATATACTATATATTCTGTATACAG AATATATATACTATATATATTCTGTATATAGAATATATATACTATATATA TTCTGTATATAGAATATATATAGTATATATATTCTGTATATAGAATATAT ATACTATATATATTCTGTATATAGAATATATATAGTATATATATTCTGTA TATAGAATATATATACTATATATATTCTGTATATAGAATATATATACTAT ATATATTCTGTATATAGAATATATATACTATA	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
AGMO_chr7_15195317_15567015	15529638	A A	ATATAGTA others(501): Show ATATAGTATATATATTCTATATACAGAATATATATAGTATATATATTCTA TATACAGAATATATATAGTATATATATTCTATATACAGAATATATATAGT ATATATATTCTATATACAGAATATATATACTATATATATTCTATATACAG AATATATATAGTATATATATTCTATATACAGAATATATATAGTATATATA TTCTGTATACAGAATATATAGTATATATATTCTGTATACAGAATATATAT AGTATATATATTCTGTATACAGAATATATATACTATATATATTCTATATA CAGAATATATATACTATATATATTCTGTATACAGAATATATATACTATAT ATTCTGTATACAGAATATATATACTATATATATTCTGTATATAGAATATA TATACTATATATATTCTGTATATAGAATATATATAGTATATATATTCTGT ATATAGAATATATATAGTATATATATTCTGTATATAGAATATATATACTA TATTAATTC	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	57	0.0175	508	c.409 others(527): Show c.409+15133_409+15134insGAATTAATATAGTATATATATTCTAT ATACAGAATATATATACTATATATATTCTATATACAGAATATATATACTA TATATATTCTATATACAGAATATATATAGTATATATATTCTATATACAGA ATATATATAGTATATATATTCTGTATACAGAATATATAGTATATATATTC TGTATACAGAATATATATAGTATATATATTCTGTATATAGAATATATATA GTATATATATTCTGTATACAGAATATATATACTATATATATTCTGTATAC AGAATATATATACTATATATTCTGTATACAGAATATATATACTATATATA TTCTGTATATAGAATATATATACTATATATATTCTGTATATAGAATATAT ATAGTATATATATTCTGTATATAGAATATATATACTATATATATTCTGTA TATAGAATATATATACTATATATATTCTGTATATAGAATATATATACTAT ATATATTCTGTATATAGAATATATATACTATA	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
AGMO_chr7_15195317_15567015	15529638	A A	ATATAGTA others(501): Show ATATAGTATATATATTCTATATACAGAATATATATAGTATATATATTCTA TATACAGAATATATATAGTATATATATTCTATATACAGAATATATATAGT ATATATATTCTATATACAGAATATATATAGTATATATATTCTATATACAG AATATATATACTATATATATTCTATATACAGAATATATATAGTATATATA TTCTATATACAGAATATATATAGTATATATATTCTGTATACAGAATATAT AGTATATATATTCTGTATACAGAATATATAGTATATATATTCTATATACA GAATATATATAGTATATATATTCTGTATACAGAATATATATACTATATAT ATTCTATATACAGAATATATATACTATATATATTCTATATATAGAATATA TATAGTATATATATTCTGTATATAGAATATATATAGTATATATATTCTGT ATATAGAATATATATAGTATATATATTCTGTATATAGAATATATATACTA TATTAATTC	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18945.hp2 NA19012.hp2 NA18943.hp2 NA18945.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0006g0236 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0006g0236	3	59	0.0508	508	c.409 others(527): Show c.409+15133_409+15134insGAATTAATATAGTATATATATTCTAT ATACAGAATATATATACTATATATATTCTATATACAGAATATATATACTA TATATATTCTATATACAGAATATATATACTATATATATTCTATATATAGA ATATATATAGTATATATATTCTGTATATAGAATATATATAGTATATATAT TCTGTATACAGAATATATATACTATATATATTCTGTATATAGAATATATA TACTATATATTCTGTATACAGAATATATATACTATATATTCTGTATACAG AATATATATACTATATATATTCTGTATATAGAATATATATACTATATATA TTCTGTATATAGAATATATATAGTATATATATTCTGTATATAGAATATAT ATACTATATATATTCTGTATATAGAATATATATACTATATATATTCTGTA TATAGAATATATATACTATATATATTCTGTATATAGAATATATATACTAT ATATATTCTGTATATAGAATATATATACTATA	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
AKAP17A_chrX_1586604_1607520	1596855	T T	TCCTCCTA others(501): Show TCCTCCTAGTGAGGTGGATTCCTCCTCCTCCTCCTCCATCCCTCCCACCC TCCTAGTGAGGTGGATTCCTCCTCCTCCTCCTCCATCCCTCCCACCCTCC TAGTGAGGTGGATTCCTCCTCTTCCTCCTCCATCCCTCCCACCCTCCTAG TGAGGTGGATTCCTCCTCCTCCTCCTCCATCCCTCCCACCCTCCTAGTGA GGTGGATTCCTCCTCCTCCTCCTCTTCCTCCTCCATCCCTCCCGCTGTGC CCTCCTAGTGAGGCGGATTCGTCCTCTTCCTCCTCCATCCCTCCTGCCGT GTCCTCCTAGTGAGGTGGATTCCTCCTCCTCCTTCTCCGTCCCTCCCACC CTCCTAGTGAGGTGGATTCCTCCTCCTCCTCCTCTTCCTCCTCCATCCCT CCCGCTGTGCCCTCCTAGTGAGGCGGATTCGTCCTCTTCCTCCTCCATCC CTCCTGCCGTGTCCTCCTAGTGAGGTGGATTCCTCCTCCTCCTTCTCCAT CCCTCCCAC	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0001	1	109	0.0092	508	c.911 others(525): Show c.911+1354_911+1355insCCTCCATCCCTCCCACCCTCCTAGTGAG GTGGATTCCTCCTCCTCCTCCTCCATCCCTCCCACCCTCCTAGTGAGGTG GATTCCTCCTCTTCCTCCTCCATCCCTCCCACCCTCCTAGTGAGGTGGAT TCCTCCTCCTCCTCCTCCATCCCTCCCACCCTCCTAGTGAGGTGGATTCC TCCTCCTCCTCCTCTTCCTCCTCCATCCCTCCCGCTGTGCCCTCCTAGTG AGGCGGATTCGTCCTCTTCCTCCTCCATCCCTCCTGCCGTGTCCTCCTAG TGAGGTGGATTCCTCCTCCTCCTTCTCCGTCCCTCCCACCCTCCTAGTGA GGTGGATTCCTCCTCCTCCTCCTCTTCCTCCTCCATCCCTCCCGCTGTGC CCTCCTAGTGAGGCGGATTCGTCCTCTTCCTCCTCCATCCCTCCTGCCGT GTCCTCCTAGTGAGGTGGATTCCTCCTCCTCCTTCTCCATCCCTCCCACC CTCCTAGTGAGGTGGATTCCTCCTCCTCCT	AKAP17A	ENSG00000197976.12	transcript	ENST00000313871.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
AKT3_chr1_243494724_243855243	243525831	G G	GGGGGAGG others(501): Show GGGGGAGGAGGGGAGGGGAGGGGAGAAGGTGAAGAGGGGAAGGAGAGGAG GGGGAGGTGGAGGAGGGGGAGGAGGAGGAGGAGGAGAAGGGGGAGGAGAA GGGGAAGGAGCAGAAAGGGGAGGAGAAGGGGAGGAGGAGGGGGAGGAGGA GGAGGAGGGGGAGGAGGAGGAGAAGGGGAGGAGGAGGGGGAGGAGGGGGA GGGGGAGGGGGGGAGGAGGAGGGGGGGGAGGAGGGGGGGGGAGGGGGGGA GGAGGAGGGGGGGAGGAGGGGGGAGGAGGGGGGAGGGGGAGGGGGAGGGG GAGGGGGAGGGGGAGGAGGGGGAGGGGGAGGGGGAGGGGGAGGAGGGGGA GGAGGAGGGGGAGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGG AGGAGGAGGAGGGGGAGGAGGAGGAGGGGAGGAGGAGGAGGGGGAGGAGG AGGAGGAGGGGAGGAGGAGGAGGGGGAGGAGGAGGAGGAGGGGAGGAGGA GGAGGGGGA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0166 a0001c0001t0017g0166	1	183	0.0055	508	c.125 others(529): Show c.1252-13406_1252-13405insTCCCCCTCCTCCTCCTCCCCTCCT CCTCCTCCTCCCCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCCCCTCCT CCTCCTCCCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCC CCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCCCCTCCTCCCCC TCCCCCTCCCCCTCCCCCTCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCC CTCCCCCCTCCTCCCCCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCCCCC CCCTCCTCCCCCCCCTCCTCCTCCCCCCCTCCCCCTCCCCCTCCTCCCCC TCCTCCTCCCCTTCTCCTCCTCCTCCCCCTCCTCCTCCTCCTCCCCCTCC TCCTCCCCTTCTCCTCCCCTTTCTGCTCCTTCCCCTTCTCCTCCCCCTTC TCCTCCTCCTCCTCCTCCCCCTCCTCCACCTCCCCCTCCTCTCCTTCCCC TCTTCACCTTCTCCCCTCCCCTCCCCTCCTCCCC	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
ARHGAP19_chr10_97217179_97297637	97251398	G G	GGAAAGGA others(501): Show GGAAAGGAAGGGGAAGGGAAGGGGAAGGGGAGGAGACGGGGAAGGGGAAG GGAAAAGGAAGGAGAAGAGGAGGGGAAGGGGAGGGGAAGGGAAGGGGAAA GGAAGGAAGGGGGAGGGGAAGGGAAGGGGAAGGGAAGGGGAAGGGAAGGG GAAGGGAAGGGGAAGGGGAAGGGAAGGGAAAAGGGAAGGAGAAAAGGAAG GGAAGGGGAAGGGAAGGGGAAGATGAAGGGAAAGGGAAAAGGAAGGAGAA GAGGAGGGGAAGGGGAGGGGAAGGGAAGGGGAAGGGGAAAGAAAGGGAGA GGGAGGGGGCAGGGAAGGGAAGGGGAATGGAAGAGGAAGGAAGGGGAAGG AAGGGGAATGGAAAGGAAGGGGAAGGGGAAGGGAAGGGAAAGGGAAGGGG GAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGA GGGGAAGGGGGAGGGGAAGGGGAAAGGAAGGGGAAGGGGGAGGGAAAGGA AAGGGGAAT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	238	0.0042	508	c.927 others(525): Show c.927+4919_927+4920insATTCCCCTTTCCTTTCCCTCCCCCTTCC CCTTCCTTTCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCT TCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCTTTCCCTTCC CTTCCCCTTCCCCTTCCTTTCCATTCCCCTTCCTTCCCCTTCCTTCCTCT TCCATTCCCCTTCCCTTCCCTGCCCCCTCCCTCTCCCTTTCTTTCCCCTT CCCCTTCCCTTCCCCTCCCCTTCCCCTCCTCTTCTCCTTCCTTTTCCCTT TCCCTTCATCTTCCCCTTCCCTTCCCCTTCCCTTCCTTTTCTCCTTCCCT TTTCCCTTCCCTTCCCCTTCCCCTTCCCTTCCCCTTCCCTTCCCCTTCCC TTCCCCTTCCCTTCCCCTCCCCCTTCCTTCCTTTCCCCTTCCCTTCCCCT CCCCTTCCCCTCCTCTTCTCCTTCCTTTTCCCTTCCCCTTCCCCGTCTCC TCCCCTTCCCCTTCCCTTCCCCTTCCTTTC	ARHGAP19	ENSG00000213390.11	transcript	ENST00000358531.9	protein_coding	6/11			chr10	TogoVar
ATP10A_chr15_25673712_25868327	25758725	C C	CCTAACTC others(501): Show CCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCCATCACCTG CTCCACCCTAACTCATTCCCACCACCTGCTCCACCCTAACTCATTCCTAT CACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTAACTCAT TCCGACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTA ACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCC ACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACC TGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCG ATCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTC ATTCCGATCACCTGCTCCACCCTAACTCATTCCCACCACCTGCTCCACCC TAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCCACCACCTGCT CCACCCTAA	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0055 a0055	a0055c0082 a0055c0082	a0055c0082t0001 a0055c0082t0001	a0055c0082t0001g0277 a0055c0082t0001g0277	1	165	0.0061	508	c.654 others(527): Show c.654+22293_654+22294insTTAGGGTGGAGCAGGTGGTGGGAATG AGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTG GGAATGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAG GTGGTCGGAATGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTG GAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTT AGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGATCGGAA TGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGA TCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGC AGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGATAGGAATGAGTTAGGG TGGAGCAGGTGGTGGGAATGAGTTAGGGTGGAGCAGGTGATGGGAATGAG TTAGGGTGGAGCAGGTGGTCGGAATGAGTTAG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10B_chr5_160558120_160857211	160653921	A A	AATATATG others(501): Show AATATATGTTGTATATACGTATATACATATATAAATATATGTTGTATATA CGTATATACATATATAAATATATGTTGTATATACGTATATACTATATATG TTGTATATACGTATATACAACATAAATATATGTTGTATATACGTATATAC AACATAAATATATGTTGTATATACGTATATACAACATAAATATATGTTGT ATATACGTATATACAACATAAATATATGTTGTATATACGTATATACAACA TAAATATATGTTGTATATACGTATATACATATATAAATATATGTTGTATA TACGTATATACATATATAAATATATGTTGTATATACGTATATACTATATA TGTTGTATATACGTATATACAACATATATTTATATATGTATATACGTATA TACAACATAAATATATGTTGTATATACGTATATACAACATAAATATATGT TGTATATACGTATATACAACATAAATATATGTTGTATATACGTATATACA TATATAAAT	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02300.hp2 HG02027.hp1 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0002 a0001c0001t0008	a0001c0001t0002g0199 a0001c0001t0008g0135 a0001c0001t0002g0199 a0001c0001t0008g0135	2	99	0.0202	508	c.676 others(525): Show c.676-4666_676-4665insATTTATATATGTATATACGTATATACAA CATATATTTATGTTGTATATACGTATATACAACATATATTTATGTTGTAT ATACGTATATACAACATATATTTATGTTGTATATACGTATATACATATAT AAATATATGTTGTATATACGTATATACAACATATATAGTATATACGTATA TACAACATATATTTATATATGTATATACGTATATACAACATATATTTATA TATGTATATACGTATATACAACATATATTTATGTTGTATATACGTATATA CAACATATATTTATGTTGTATATACGTATATACAACATATATTTATGTTG TATATACGTATATACAACATATATTTATGTTGTATATACGTATATACAAC ATATATTTATGTTGTATATACGTATATACAACATATATAGTATATACGTA TATACAACATATATTTATATATGTATATACGTATATACAACATATATTTA TATATGTATATACGTATATACAACATATAT	ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	7/25			chr5	TogoVar
ATP11A_chr13_112685038_112892168	112873155	G G	GAACGGTG others(501): Show GAACGGTGTGAGGTGTGGCTTTGTCTTCCTGAGCGGTGTGAGGTGTGGCT TTGTCTTCCTGAGCGGTGTGAGGTGTGGCTTTGATTTCCTGAGCGGTGTG AGGTGTGGCTTTGTCTTCCTGAGTGGTGTGAGGTGTGGCTTTGTCTCCTG AGTGTTGTGAGGTGTTGCTTTGTCTTCCTGAGTGGTGTGAGGTGTGGCTT TGTCTTCCTGAGTGGTGTGAGATGTGGCTTTGTCTTCCTGAGCGGTGTGA GGTGTGGCTTTGTCTTCCTGAGCGGTGTGAGGTGTGGCTTTGTCTTCCTG AGCGCTGTGAGGTGTGGCTTTGTCTTCCTGAGTGGTGTGAGGTGTGGCTT TGTCTTCTGGAGCGGTGTGAGGTGTGGCTTTGTCTTCCTGAGTGGTGTGA GGTGTGGCTTTGTCTTCCTGAGCGGTGTGAGGTGTGGCTTTGTCTTCCTG AGCGGTGTGAGGTGTGGCTTTGTCTTCCTGAATGGTGTGAGGTGTGGCTT TGTCTCCTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00280.hp2 others(62): Show HG00099.hp1 HG00280.hp1 HG00280.hp2 HG00408.hp2 HG00438.hp2 HG00621.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01261.hp2 HG01361.hp1 HG01433.hp1 HG01517.hp1 HG01952.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02148.hp2 HG02622.hp1 HG02735.hp1 HG03017.hp1 HG03017.hp2 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18612.hp2 NA18942.hp1 NA18962.hp1 NA18966.hp2 NA18971.hp2 NA18973.hp1 NA18995.hp1 NA19005.hp1 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19043.hp1 NA19064.hp2 NA19065.hp1 NA19074.hp1 NA19081.hp1 NA19240.hp2 NA20129.hp2 NA20805.hp2 NA20905.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0007	a0001c0002 a0001c0004 a0001c0005 others(6): Show a0001c0002 a0001c0004 a0001c0005 a0001c0040 a0002c0003 a0002c0025 a0003c0008 a0005c0032 a0007c0034	a0001c0002t0001 a0001c0002t0002 a0001c0002t0012 others(27): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0012 a0001c0002t0031 a0001c0002t0034 a0001c0002t0036 a0001c0002t0041 a0001c0002t0059 a0001c0002t0061 a0001c0004t0001 a0001c0004t0002 a0001c0005t0001 a0001c0005t0002 a0001c0005t0009 a0001c0005t0017 a0001c0005t0020 a0001c0005t0037 a0001c0005t0038 a0001c0005t0063 a0001c0005t0065 a0001c0005t0073 a0001c0040t0001 a0002c0003t0001 a0002c0003t0002 a0002c0003t0009 a0002c0003t0035 a0002c0025t0002 a0003c0008t0005 a0005c0032t0001 a0007c0034t0032	a0001c0002t0001g0019 a0001c0002t0001g0092 a0001c0002t0001g0102 others(62): Show a0001c0002t0001g0019 a0001c0002t0001g0092 a0001c0002t0001g0102 a0001c0002t0001g0167 a0001c0002t0001g0180 a0001c0002t0002g0021 a0001c0002t0002g0022 a0001c0002t0002g0030 a0001c0002t0002g0089 a0001c0002t0002g0190 a0001c0002t0012g0026 a0001c0002t0012g0028 a0001c0002t0012g0252 a0001c0002t0031g0097 a0001c0002t0034g0179 a0001c0002t0036g0042 a0001c0002t0041g0212 a0001c0002t0059g0127 a0001c0002t0061g0201 a0001c0004t0001g0017 a0001c0004t0001g0107 a0001c0004t0001g0224 a0001c0004t0002g0208 a0001c0005t0001g0039 a0001c0005t0001g0087 a0001c0005t0001g0091 a0001c0005t0001g0223 a0001c0005t0002g0081 a0001c0005t0002g0095 a0001c0005t0002g0128 a0001c0005t0009g0174 a0001c0005t0017g0080 a0001c0005t0017g0100 a0001c0005t0020g0144 a0001c0005t0020g0247 a0001c0005t0037g0103 a0001c0005t0038g0172 a0001c0005t0063g0130 a0001c0005t0065g0173 a0001c0005t0073g0126 a0001c0040t0001g0216 a0002c0003t0001g0040 a0002c0003t0001g0059 a0002c0003t0001g0137 a0002c0003t0001g0236 a0002c0003t0002g0027 a0002c0003t0002g0073 a0002c0003t0002g0074 a0002c0003t0002g0090 a0002c0003t0002g0114 a0002c0003t0002g0119 a0002c0003t0002g0120 a0002c0003t0002g0183 a0002c0003t0002g0192 a0002c0003t0002g0238 a0002c0003t0002g0248 a0002c0003t0009g0143 a0002c0003t0009g0226 a0002c0003t0009g0231 a0002c0003t0009g0242 a0002c0003t0035g0031 a0002c0025t0002g0037 a0003c0008t0005g0249 a0005c0032t0001g0234 a0007c0034t0032g0075	65	249	0.2610	508	c.305 others(525): Show c.3058-417_3058-416insACGGTGTGAGGTGTGGCTTTGTCTTCCT GAGCGGTGTGAGGTGTGGCTTTGTCTTCCTGAGCGGTGTGAGGTGTGGCT TTGATTTCCTGAGCGGTGTGAGGTGTGGCTTTGTCTTCCTGAGTGGTGTG AGGTGTGGCTTTGTCTCCTGAGTGTTGTGAGGTGTTGCTTTGTCTTCCTG AGTGGTGTGAGGTGTGGCTTTGTCTTCCTGAGTGGTGTGAGATGTGGCTT TGTCTTCCTGAGCGGTGTGAGGTGTGGCTTTGTCTTCCTGAGCGGTGTGA GGTGTGGCTTTGTCTTCCTGAGCGCTGTGAGGTGTGGCTTTGTCTTCCTG AGTGGTGTGAGGTGTGGCTTTGTCTTCTGGAGCGGTGTGAGGTGTGGCTT TGTCTTCCTGAGTGGTGTGAGGTGTGGCTTTGTCTTCCTGAGCGGTGTGA GGTGTGGCTTTGTCTTCCTGAGCGGTGTGAGGTGTGGCTTTGTCTTCCTG AATGGTGTGAGGTGTGGCTTTGTCTCCTTA	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	26/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112873155	G G	GAACGGTG others(501): Show GAACGGTGTGAGGTGTGGCTTTGTCTTCCTGAGCGGTGTGAGGTGTGGCT TTGTCTTCCTGAGCGGTGTGAGGTGTGGCTTTGATTTCCTGAGCGGTGTG AGGTGTGGCTTTGTCTTCCTGAGTGGTGTGAGGTGTGGCTTTGTCTCCTG AGTGTTGTGAGGTGTTGCTTTGTCTTCCTGAGTGGTGTGAGGTGTGGCTT TGTCTTCCTGAGTGGTGTGAGATGTGGCTTTGTCTTCCTGAGCGGTGTGA GGTGTGGCTTTGTCTTCCTGAGCGGTGTGAGGTGTGGCTTTGTCTTCCTG AGCGCTGTGAGGTGTGGCTTTGTCTTCCTGAGTGGTGTGAGGTGTGGCTT TGTCTTCTGGAGCGGTGTGAGGTGTGGCTTTGTCTTCCTGAGTGGTGTGA GGTGTGGCTTTGTCTTCCTGAGCGGTGTGAGGTGTGGCTTTGTCTTCCTG AGTGGTGTGAGGTGTGGCTTTGTCTTCCTGAATGGTGTGAGGTGTGGCTT TGTCTCCTT	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0191 a0001c0002t0012g0191	1	185	0.0054	508	c.305 others(525): Show c.3058-417_3058-416insACGGTGTGAGGTGTGGCTTTGTCTTCCT GAGCGGTGTGAGGTGTGGCTTTGTCTTCCTGAGCGGTGTGAGGTGTGGCT TTGATTTCCTGAGCGGTGTGAGGTGTGGCTTTGTCTTCCTGAGTGGTGTG AGGTGTGGCTTTGTCTCCTGAGTGTTGTGAGGTGTTGCTTTGTCTTCCTG AGTGGTGTGAGGTGTGGCTTTGTCTTCCTGAGTGGTGTGAGATGTGGCTT TGTCTTCCTGAGCGGTGTGAGGTGTGGCTTTGTCTTCCTGAGCGGTGTGA GGTGTGGCTTTGTCTTCCTGAGCGCTGTGAGGTGTGGCTTTGTCTTCCTG AGTGGTGTGAGGTGTGGCTTTGTCTTCTGGAGCGGTGTGAGGTGTGGCTT TGTCTTCCTGAGTGGTGTGAGGTGTGGCTTTGTCTTCCTGAGCGGTGTGA GGTGTGGCTTTGTCTTCCTGAGTGGTGTGAGGTGTGGCTTTGTCTTCCTG AATGGTGTGAGGTGTGGCTTTGTCTCCTTA	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	26/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
BSND_chr1_54993933_55022172	55003060	G G	GAGATGCT others(501): Show GAGATGCTGATGATGAGGATGGTGATGGTGAGAATGGTAATGGTGATGAT AATAGTGATGATGATAATAGTGATAATGATGGTGAGGATGGTGATGGTGA CAATGGTGATGATGATGATGATGATAGTGATGATGATGGTGATTAGGAGA TGGTGATGATGAGGATGGTGATGGTGAGAATGGTAATGGTGATGATAATA GTGATGATGATGGTGAGGATGGTGATGGTGAAGATGGTGATGATGAGATT GGTGATAGAATGGTGATGGTAATGACGATGTTGATGGTAATGAAGATGTC AATGATGGTGATGTGATGATAATGATGGTAACGGTTATGATGATGGTGAT GGTGATAATGATAATGGTGATGATGATGGTAATGGTCACGATGGTGATAG TGATGATGATAGTGGTGATAATGATGGTGATGTTGATAATTTTGGTGGTG ATAATAGTTATGGTGATGATTGATGGTAATGAGGATGAGGATGATGACGA TTATTATTA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00544.hp2 HG01081.hp1 others(30): Show HG00438.hp2 HG00544.hp2 HG01081.hp1 HG01175.hp1 HG01361.hp1 HG02015.hp2 HG02280.hp1 HG03041.hp2 NA18940.hp2 NA18945.hp2 NA18947.hp2 NA18955.hp1 NA18962.hp2 NA18963.hp1 NA18966.hp1 NA18972.hp2 NA18980.hp1 NA18984.hp1 NA18988.hp1 NA18990.hp2 NA18998.hp2 NA19001.hp2 NA19005.hp2 NA19012.hp2 NA19030.hp1 NA19043.hp2 NA19054.hp2 NA19064.hp2 NA19065.hp1 NA19070.hp2 NA19072.hp1 NA19078.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0009 others(16): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0009 a0001c0001t0018 a0001c0001t0060 a0001c0001t0062 a0001c0001t0195 a0001c0001t0198 a0001c0001t0199 a0001c0001t0200 a0001c0001t0205 a0001c0001t0206 a0001c0001t0210 a0001c0001t0211 a0001c0001t0213 a0001c0001t0225 a0001c0001t0227 a0001c0001t0251 a0001c0001t0256	a0001c0001t0001g0004 a0001c0001t0001g0071 a0001c0001t0001g0076 others(18): Show a0001c0001t0001g0004 a0001c0001t0001g0071 a0001c0001t0001g0076 a0001c0001t0008g0012 a0001c0001t0009g0004 a0001c0001t0018g0004 a0001c0001t0060g0012 a0001c0001t0062g0004 a0001c0001t0195g0077 a0001c0001t0198g0012 a0001c0001t0199g0012 a0001c0001t0200g0004 a0001c0001t0205g0004 a0001c0001t0206g0004 a0001c0001t0210g0063 a0001c0001t0211g0012 a0001c0001t0213g0004 a0001c0001t0225g0004 a0001c0001t0227g0004 a0001c0001t0251g0044 a0001c0001t0256g0044	33	424	0.0778	508	c.178 others(525): Show c.178-1962_178-1961insAGATGCTGATGATGAGGATGGTGATGGT GAGAATGGTAATGGTGATGATAATAGTGATGATGATAATAGTGATAATGA TGGTGAGGATGGTGATGGTGACAATGGTGATGATGATGATGATGATAGTG ATGATGATGGTGATTAGGAGATGGTGATGATGAGGATGGTGATGGTGAGA ATGGTAATGGTGATGATAATAGTGATGATGATGGTGAGGATGGTGATGGT GAAGATGGTGATGATGAGATTGGTGATAGAATGGTGATGGTAATGACGAT GTTGATGGTAATGAAGATGTCAATGATGGTGATGTGATGATAATGATGGT AACGGTTATGATGATGGTGATGGTGATAATGATAATGGTGATGATGATGG TAATGGTCACGATGGTGATAGTGATGATGATAGTGGTGATAATGATGGTG ATGTTGATAATTTTGGTGGTGATAATAGTTATGGTGATGATTGATGGTAA TGAGGATGAGGATGATGACGATTATTATTA	BSND	ENSG00000162399.9	transcript	ENST00000651561.1	protein_coding	1/3			chr1	TogoVar
C7orf50_chr7_992006_1143247	1127635	A A	AGGCTGGA others(501): Show AGGCTGGAGTGCAGTGGCGCGATCTCAGCTCATCTCACCGTCACCCAGGC TGGAGTGCAGTGGCACGATCTCGGCTGATCCCACCGTCACCCGGGCTGGA GTGCAGTGGCACAATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGC AGTGGCACGATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTG GCGCCATCTCGGCTCATCCCACCCTGTCACCCGGGCTGGAGTGCAGTGGC ACGATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCACGA TCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCGCGATCTC AGCTCATCTCACCGTCACCCGGGCTGGAGTGCAGTGGCGCGATCTCAGCT CATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATC CCACCGTCACCCGGGCTGGAGTGCAGTGGCACAATCTCGGCTCATCTCAC CGTCACCCG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0016 a0001c0001t0013g0016	1	215	0.0047	508	c.-1- others(521): Show c.-1-250_-1-249insCGGGTGACGGTGAGATGAGCCGAGATTGTGCC ACTGCACTCCAGCCCGGGTGACGGTGGGATGAGCCGAGATGGCGCCACTG CACTCCAGCCCGGGTGACGGTGGGATGAGCTGAGATCGCGCCACTGCACT CCAGCCCGGGTGACGGTGAGATGAGCTGAGATCGCGCCACTGCACTCCAG CCCGGGTGACGGTGGGATGAGCCGAGATCGTGCCACTGCACTCCAGCCCG GGTGACGGTGGGATGAGCCGAGATCGTGCCACTGCACTCCAGCCCGGGTG ACAGGGTGGGATGAGCCGAGATGGCGCCACTGCACTCCAGCCCGGGTGAC GGTGGGATGAGCCGAGATCGTGCCACTGCACTCCAGCCCGGGTGACGGTG GGATGAGCCGAGATTGTGCCACTGCACTCCAGCCCGGGTGACGGTGGGAT CAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGTGACGGTGAGATGAGC TGAGATCGCGCCACTGCACTCCAGCC	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4			chr7	TogoVar
CACNA1H_chr16_1148106_1226768	1185658	A A	ATAGGGCC others(501): Show ATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGTCGGCA TGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGTCG GCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGG TCGGCATGCATAGGGCCGGGGGCGGGGTGTGTACGGGGCGGGTGAGTAGA CGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGA CGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGA CGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGA CGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGA CGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGA CGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGA CGGCGTGCG	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0002 a0002	a0002c0108 a0002c0108	a0002c0108t0025 a0002c0108t0025	a0002c0108t0025g0143 a0002c0108t0025g0143	1	103	0.0097	508	c.300 others(525): Show c.300-9309_300-9308insCCGGGGGCGGGGTACGTGGGGGGCGGGT GAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCG GGTGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGG GCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTGTGTAC GGGGCGGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTAC GGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTAC GGGGCGGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTAC GGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTAC GGGGCGGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTAC GGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTAC GGGGCAGGTGAGTAGACGGCGTGCGTAGGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CALN1_chr7_71774491_72417338	72209189	T T	TTTCCTTC others(501): Show TTTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCCTTCCTTCCC TCCTTCCCTCCTTCCCTCCGTCCTTCCCTCCTTCCCTCCTTCCTTCCCTC CTTCCCTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCGTCCT TCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCCTCCTTCCCTC CTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCC TCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTC CTTCCCTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCT TCCCTCCTTCCCTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCCTCCTTC CTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCT TCCTTCCCTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTC CTTCCCTCC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	99	0.0101	508	c.244 others(527): Show c.244+69496_244+69497insGGAGGGAAGGAAGGAGGGAAGGAGGG AAGGAAGGAGGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAA GGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAAGGAGGGAAGGAAGG AGGGAAGGAAGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAG GGAAGGAAGGAGGGAAGGAGGGAAGGAGGGAAGGAGGGAAGGAGGGAAGG AAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAA GGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAGGGAAGG AGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGACGGAGGGAAGGAG GGAAGGAAGGAGGGAAGGAGGGAAGGAGGGAAGGAGGGAAGGAAGGAGGG AAGGAGGGAAGGACGGAGGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAA GGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAA	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72209189	T T	TTTCCTTC others(501): Show TTTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCCTTCCTTCCC TCCTTCCCTCCTTCCCTCCGTCCTTCCCTCCTTCCCTCCTTCCTTCCCTC CTTCCCTCCTTCCTTCCGTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCT TCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTC CCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCC TCCTTCCCTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTC CTTCCCTCCTTCCCTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCCTCCT TCCTTCCCTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTC CTTCCCTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCT TCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCTTTC CTTCCCTCC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02135.hp1 HG00438.hp2 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0061 a0001c0001t0006g0018 a0001c0001t0001g0061 a0001c0001t0006g0018	2	100	0.0200	508	c.244 others(527): Show c.244+69496_244+69497insGGAGGGAAGGAAAGAGGGAAGGAGGG AAGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAAGGAGGGAAGGAG GGAAGGAAGGAGGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGG AAGGAAGGAGGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAAGGAG GGAAGGAAGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGG AAGGAAGGAGGGAAGGAGGGAAGGAGGGAAGGAGGGAAGGAGGGAAGGAA AGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGG AAGGAGGGAAGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGAG GGAAGGAGGGAAGGACGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGAGGG AAGGAGGGAAGGACGGAGGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAA GGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAA	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72209242	T T	TTCCCTCC others(501): Show TTCCCTCCTTCCCTCCGTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTT CCCTCCTTCCTTCCGTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCC CTCCTTCCTTCCGTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCT CCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCC TTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCTTTCCTTCCCT CCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCC TTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTT CCTTCCCTCCTTCCCTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCCTCC TTCCTTCCCTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTT CCTTCCCTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCC TTCCTTCCC	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	142	0.0070	508	c.244 others(527): Show c.244+69443_244+69444insGGGAAGGAAGGAGGGAAGGAAGGAGG GAAGGAAGGAGGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGA AGGAAGGAGGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAAGGAGG GAAGGAAGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGA AGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGAGG GAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAGGGAAGGAAAGAGGGA AGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAAGGAGG GAAGGAAGGAGGGAAGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGA AGGAGGGAAGGAGGGAAGGACGGAAGGAAGGAGGGAAGGAGGGAAGGAAG GAGGGAAGGAGGGAAGGACGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGA GGGAAGGAGGGAAGGACGGAGGGAAGGAGGGA	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CAPN11_chr6_44153820_44189401	44182049	A A	ACACACAC others(501): Show ACACACACACATACAGACACAACCACACCACACACACACACACATACACA CTCACATACAGACACAACCACACCACACTCACACACACACACTCACATAC AGACACAACCACACCACACTCACACACACACACACACTCACATACAGACA CAACCACACCACACTCACACACACACACACACTCACATACAGACACAACC ACACCACACTCACACACACACACTCACATACAGACACAACCACACCACAC TCACACACACACACACATACAGACACAACCACACCACACTCACACACACA CATACACACTCACATACAGACACAACCACACCACACACACACATACACAC TCACATACAGACACAACCACACCACACACACACACACACTCACATACAGA CACAACCACACCACACTCACACACACACACTCACATACAGACACAACCAC ACCACACTCACACACACACACTCACATACAGACACAACCACACCACACAC ACACACACT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	316	0.0032	508	c.193 others(525): Show c.1938+733_1938+734insCACACATACAGACACAACCACACCACAC ACACACACACATACACACTCACATACAGACACAACCACACCACACTCACA CACACACACTCACATACAGACACAACCACACCACACTCACACACACACAC ACACTCACATACAGACACAACCACACCACACTCACACACACACACACACT CACATACAGACACAACCACACCACACTCACACACACACACTCACATACAG ACACAACCACACCACACTCACACACACACACACATACAGACACAACCACA CCACACTCACACACACACATACACACTCACATACAGACACAACCACACCA CACACACACATACACACTCACATACAGACACAACCACACCACACACACAC ACACACTCACATACAGACACAACCACACCACACTCACACACACACACTCA CATACAGACACAACCACACCACACTCACACACACACACTCACATACAGAC ACAACCACACCACACACACACACACTCACA	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CCDC88C_chr14_91266323_91422820	91293493	T T	TCCTCACC others(501): Show TCCTCACCCGCCACAGCTCACTTTCCCATCCTCACGTGCCACAGCTCACC TTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCAGAG CTCACCTTCCCATCCTCACGTGCCACAGCTCACCTTCCCATCCTCACCCG CCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCT CACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCC CATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCA CCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCAC AGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACC TGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATC CTCACCTGCCACAGCCCACCTTCCTGTCCCCTCACCTGCCACGGCCTACC TTCCTGTCC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01081.hp1 HG01168.hp1 others(1): Show HG00735.hp1 HG01081.hp1 HG01168.hp1 HG01257.hp2	a0001 a0010 a0001 a0010	a0001c0001 a0010c0025 a0001c0001 a0010c0025	a0001c0001t0001 a0010c0025t0001 a0001c0001t0001 a0010c0025t0001	a0001c0001t0001g0059 a0001c0001t0001g0100 a0010c0025t0001g0023 others(1): Show a0001c0001t0001g0059 a0001c0001t0001g0100 a0010c0025t0001g0023 a0010c0025t0001g0171	4	208	0.0192	508	c.411 others(525): Show c.4112+679_4112+680insGGACAGGAAGGTAGGCCGTGGCAGGTGA GGGGACAGGAAGGTGGGCTGTGGCAGGTGAGGATGGGAAGGTGAGCTGTG GCGGGTGAGGATGGGAAGGTGAGCTGTGGCAGGTGAGGATGGGAAGGTGA GCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGA AGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGG ATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGG GTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTG TGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGT GAGCTGTGGCACGTGAGGATGGGAAGGTGAGCTCTGGCGGGTGAGGATGG GAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCACGTGA GGATGGGAAAGTGAGCTGTGGCGGGTGAGG	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
CCDC88C_chr14_91266323_91422820	91293498	A A	ACCCACCA others(501): Show ACCCACCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCC ATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCAC CTTCCCATTCTCACCTGCCACAGCTCACCTTCCCATCCTCACGTGCCACA GCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATTCTCACCT GCCACAGCTCACCTTCCCATCCTCACGTGCCACAGCTCACCTTCCCATCC TCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTC CCATTCTCACCTGCCACAGCTCACCTTCCCATTCTCACCTGCCACAGCTC ACCTTCCCATTCTCACCTGCCACAGCTCACCTTCCCATCCTCACCCGCCA CAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCAC CTGCCACAGCCCACCTTCCTGTCCCCTCACCTGCCACGGCCCACCTTCCT GTCCCCTCG	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0165 a0001c0007t0001g0165	1	229	0.0044	508	c.411 others(525): Show c.4112+674_4112+675insCGAGGGGACAGGAAGGTGGGCCGTGGCA GGTGAGGGGACAGGAAGGTGGGCTGTGGCAGGTGAGGATGGGAAGGTGAG CTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAA GGTGAGCTGTGGCAGGTGAGAATGGGAAGGTGAGCTGTGGCAGGTGAGAA TGGGAAGGTGAGCTGTGGCAGGTGAGAATGGGAAGGTGAGCTGTGGCGGG TGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGT GGCACGTGAGGATGGGAAGGTGAGCTGTGGCAGGTGAGAATGGGAAGGTG AGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCACGTGAGGATGGG AAGGTGAGCTGTGGCAGGTGAGAATGGGAAGGTGAGCTGTGGCGGGTGAG GATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCG GGTGAGGATGGGAAGGTGAGCTGTGGTGGG	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
CCN4_chr8_133186039_133236690	133214070	C C	CACTATAT others(501): Show CACTATATATAGTAGTTATACATACACTATATAGTAGTTATATATACTAC ATATACACTATATATAGTAGTTATATATACTACATATACACTATATATAG TAGTTATATATACTATATATACACTATATATAGTAGTTATATATACTATA TATACACTATATATAGTTTATATATACTATATATAAACTATATATAGTAG TTATATATACTACTATATATACTACTATATATAGTATATACTATATATAC ACTATATATAGTAGTTATATATACTACTATATATACAACTATATATAGTA TATACTATATATACACTATATACACACTATATATAGCATATATACTATAT ATACACTATATATAGTAGTTATATATACTATATATACACTATACATACAC TATATATAGTTTATATATACTATATATAGTAGTTATATATACTATATATA CTATATATAGTAGTTATATATACTATATATACTATATATAGTATATATAT ACTATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0238 a0001c0001t0002g0238	1	27	0.0370	508	c.349 others(523): Show c.349+946_349+947insCATACACTATATAGTAGTTATATATACTAC ATATACACTATATATAGTAGTTATATATACTACATATACACTATATATAG TAGTTATATATACTATATATACACTATATATAGTAGTTATATATACTATA TATACACTATATATAGTTTATATATACTATATATAAACTATATATAGTAG TTATATATACTACTATATATACTACTATATATAGTATATACTATATATAC ACTATATATAGTAGTTATATATACTACTATATATACAACTATATATAGTA TATACTATATATACACTATATACACACTATATATAGCATATATACTATAT ATACACTATATATAGTAGTTATATATACTATATATACACTATACATACAC TATATATAGTTTATATATACTATATATAGTAGTTATATATACTATATATA CTATATATAGTAGTTATATATACTATATATACTATATATAGTATATATAT ACTATATATACTATATATAGTAGTTATA	CCN4	ENSG00000104415.14	transcript	ENST00000250160.11	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
CCN4_chr8_133186039_133236690	133214070	C C	CACTATAT others(501): Show CACTATATATAGTAGTTATATATACACTATATAATAGTTATATATACTAC ATATACACTATATATAGTAGTTATATATACTATATATACACTATATATAG TAGTTATATATACTATATATACACTATATATAGTAGTTATATATACTATA TATACACTATATATAGTTTATATATACTATATATAAACTATATATAGTAG TTATATATACTACTATATATACTACTATATATAGTATATACTATATATAC ACTATATATAGTAGTTATATATACTACTATATATACTACTATATATAGTA TATACTATATATACACTATATATACACTATATATAGCATATATACTATAT ATACACTATATATAGTAGTTATATATACTATATATACACTATACATACAC TATATATAGTTTATATATACTATATATAGTAGTTATATATACTATATATA GTATATATAGTATATATAAACTATATATACTATATATAGTTTATATATAA ACTATATAT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03540.hp2 NA18906.hp1 others(1): Show HG03209.hp1 HG03540.hp2 NA18906.hp1 NA19030.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0014 a0001c0003t0015 a0001c0003t0005 a0001c0003t0014 a0001c0003t0015	a0001c0003t0005g0232 a0001c0003t0014g0077 a0001c0003t0014g0343 others(1): Show a0001c0003t0005g0232 a0001c0003t0014g0077 a0001c0003t0014g0343 a0001c0003t0015g0257	4	30	0.1333	508	c.349 others(523): Show c.349+948_349+949insTACACTATATAATAGTTATATATACTACAT ATACACTATATATAGTAGTTATATATACTATATATACACTATATATAGTA GTTATATATACTATATATACACTATATATAGTAGTTATATATACTATATA TACACTATATATAGTTTATATATACTATATATAAACTATATATAGTAGTT ATATATACTACTATATATACTACTATATATAGTATATACTATATATACAC TATATATAGTAGTTATATATACTACTATATATACTACTATATATAGTATA TACTATATATACACTATATATACACTATATATAGCATATATACTATATAT ACACTATATATAGTAGTTATATATACTATATATACACTATACATACACTA TATATAGTTTATATATACTATATATAGTAGTTATATATACTATATATAGT ATATATAGTATATATAAACTATATATACTATATATAGTTTATATATAAAC TATATATACTATATATAGTAGTTATATA	CCN4	ENSG00000104415.14	transcript	ENST00000250160.11	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
CDHR2_chr5_176544342_176600824	176592096	A A	ATGGTGGT others(501): Show ATGGTGGTGGTGATGGTGATGGTAGTGATGGTGATGGTGGTGATGATGGT GATGATGACAATGATGATGGTGGTGGTGGTGTTGGTGTTGAGGTGATGGT GATGGTTGTGATGGTGATGGTGGTGATGATGGTGATGATGACGATGGTGG TGTTGGTGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGG TGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTGGTGATGATGA CGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGA TGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTG TGATGGTGATGGTGGTGATGATGGTGATGATGACGGTGGTGGTGGTGGTG GTGGTGTTGGTGTTGAGGTGATGGTGGTGATGGTAGTGGTGGTGGGTGAT GGTGGTGGCAATGGTGATGGTGGTGGTCATGGTGGTCATGGTAGTGGTGG CAGTTATTG	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0038 a0001c0038	a0001c0038t0001 a0001c0038t0001	a0001c0038t0001g0141 a0001c0038t0001g0141	1	333	0.0030	508	c.373 others(525): Show c.3735-530_3735-529insGTGATGGTTGTGATGGTGATGGTGGTGA TGATGGTGATGATGACGATGGTGGTGTTGGTGGTGTTGGTGTTGAGGTGA TGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGG TGATGGTGATGGTGGTGATGATGACGATGGTGGTGATGATGGTGTTGGTG TTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTG GTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTG ATGATGACGGTGGTGGTGGTGGTGGTGGTGTTGGTGTTGAGGTGATGGTG GTGATGGTAGTGGTGGTGGGTGATGGTGGTGGCAATGGTGATGGTGGTGG TCATGGTGGTCATGGTAGTGGTGGCAGTTATTGTGGTGGTGGTGATGGTG ATGGTAGTGATGGTGATGGTGGTGATGATGGTGATGATGACAATGATGAT GGTGGTGGTGGTGTTGGTGTTGAGGTGATG	CDHR2	ENSG00000074276.11	transcript	ENST00000261944.10	protein_coding	30/31		INFO_REALIGN_3_PRIME	chr5	TogoVar
CELF5_chr19_3219661_3302076	3235518	A A	ATGGATTG others(501): Show ATGGATTGGTGGATGGATGAATGTGTGGACAGATGGATGGGTGGATGGAT GAATGGGTGGATGGATGGAAGGGTTTGTGGATGAATGGGTGGATGGATGG ATGGGTGTGTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGAT GGATAGATGGGTGGATGGGTGGATGAATGATGGGTGGATGGGTGAGTGGG TGGATATATGGGTGGGTGGATTGGTGAATGAATTGTGGGTGGATAGGTGG GTGGGTGGATGGGTGGATGGTGGGTGGTGGGTGAATGGGTGTGTATTTGG GTGAGTGAGTAGGTGGATGGATGGATGGGTGGATGAATAGGTGGGTGGGT GGATGGATGAATGAATGGATGGATGGATGAATAGGTGGGTGGGTGGATGG GTGAATGAATGGATGGATGGATGAATAGGTGGGTGGGTGGATGGGTGGAT GAGTGGATGGGTGGATGGATGTGTGGATGGGTGGGTGGATGGATGAATGA ATGGATGGG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02809.hp1 HG03471.hp1 HG02615.hp2 HG02809.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0002 a0001c0001t0002g0130 a0001c0001t0005g0009 a0001c0001t0002g0002 a0001c0001t0002g0130 a0001c0001t0005g0009	3	130	0.0231	508	c.259 others(527): Show c.259+10525_259+10526insTGGTGGATGGATGAATGTGTGGACAG ATGGATGGGTGGATGGATGAATGGGTGGATGGATGGAAGGGTTTGTGGAT GAATGGGTGGATGGATGGATGGGTGTGTGGTTGGATGGATGGATGGATGG ATGGATGGATGGATGGATGGATAGATGGGTGGATGGGTGGATGAATGATG GGTGGATGGGTGAGTGGGTGGATATATGGGTGGGTGGATTGGTGAATGAA TTGTGGGTGGATAGGTGGGTGGGTGGATGGGTGGATGGTGGGTGGTGGGT GAATGGGTGTGTATTTGGGTGAGTGAGTAGGTGGATGGATGGATGGGTGG ATGAATAGGTGGGTGGGTGGATGGATGAATGAATGGATGGATGGATGAAT AGGTGGGTGGGTGGATGGGTGAATGAATGGATGGATGGATGAATAGGTGG GTGGGTGGATGGGTGGATGAGTGGATGGGTGGATGGATGTGTGGATGGGT GGGTGGATGGATGAATGAATGGATGGGTGGAT	CELF5	ENSG00000161082.13	transcript	ENST00000292672.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
CELF5_chr19_3219661_3302076	3235518	A A	ATGGATTG others(501): Show ATGGATTGGTGGATGGATGAATGTGTGGACAGATGGATGGGTGGATGGAT GAATGGGTGGATGGATGGATGGGTGTGTGGTTGGATGGATGGATGGATGG ATGGATGGATGGATGGATGGATAGAAGGGTGGGTAGGAGGATGAGTGGAT GGATGGGTGGATGGATAGATGGGTGGATGGGTGGATGAATGATGGGTGGA TGGGTGAGTGGGTGGATATATGGGTGGGTGGATTGGTGAATGAATTGTGG GTGGATAGGTGGGTGGGTGGATGGGTGGATGGTGGGTGGTGGGTGAATGG GTGTGTATTTGGGTGAGTGAGTAGGTGGATGGATGGATGGGTGGATGAAT AGGTGGGTGGGTGGATGGATGAATGAATGGATGGATGGATGAATAGGTGG GTGGGTGGATGGGTGAATGAATGGATGGATGGATGAATAGGTGGGTGGGT GGATGGGTGGATGAGTGGATGGGTGGATGGGTGGGTGGATGGATGAATGA ATGGATGGG	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0081 a0001c0001t0004g0081	1	128	0.0078	508	c.259 others(527): Show c.259+10525_259+10526insTGGTGGATGGATGAATGTGTGGACAG ATGGATGGGTGGATGGATGAATGGGTGGATGGATGGATGGGTGTGTGGTT GGATGGATGGATGGATGGATGGATGGATGGATGGATGGATAGAAGGGTGG GTAGGAGGATGAGTGGATGGATGGGTGGATGGATAGATGGGTGGATGGGT GGATGAATGATGGGTGGATGGGTGAGTGGGTGGATATATGGGTGGGTGGA TTGGTGAATGAATTGTGGGTGGATAGGTGGGTGGGTGGATGGGTGGATGG TGGGTGGTGGGTGAATGGGTGTGTATTTGGGTGAGTGAGTAGGTGGATGG ATGGATGGGTGGATGAATAGGTGGGTGGGTGGATGGATGAATGAATGGAT GGATGGATGAATAGGTGGGTGGGTGGATGGGTGAATGAATGGATGGATGG ATGAATAGGTGGGTGGGTGGATGGGTGGATGAGTGGATGGGTGGATGGGT GGGTGGATGGATGAATGAATGGATGGGTGGAT	CELF5	ENSG00000161082.13	transcript	ENST00000292672.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(501): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC TTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCC TTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTT CCTCCCTCCCCCCTTCCTCCCTCCCCCCCTTCCTCCGTCCCCCTTCCTCC CTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCC CCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCT TCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCC CCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTA TCCCTCCTCCCTTCCTCCCTTCCCCCTTCCACCCTTCCCCCTTACCCCCT TCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCC TTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0003 a0002c0001t0002g0003	1	8	0.1250	508	c.69 others(519): Show c.6926_*6927insTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCC CTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTT CCCCCTTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCCTTCCTC CGTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTT CCCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCC CCCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCT CCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTC CCCCTTTCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCCTTCCACCCT TCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCC CTTCCTCCCTCCTCCTTTCCTTTC	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding		4830		chr9	TogoVar

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