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
YBEY_chr21_46281342_46302751	46292989	G G	GAGTCAGC others(287): Show GAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGTGGTTAGC CTGACCCATGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAAACTCTA GATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGA GTCAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCT GACCCATGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGA TTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGAAGTGAGT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01106.hp2 HG00735.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0182 a0001c0001t0003g0184 a0001c0001t0003g0182 a0001c0001t0003g0184	2	396	0.0051	294	c.339 others(311): Show c.339+1527_339+1528insAGTCAGCCACACAAGTTAAACTCTAGAT TAAATTCCTCCCGTGGTTAGCCTGACCCATGCCCGGGACTCAGTGGGGAC AGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGAC CCATGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTA AATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAG CCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCC GTGCCCGGAAGTGAGT	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4			chr21	TogoVar
YBEY_chr21_46281342_46302751	46293000	A A	ACAAGTTA others(287): Show ACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGC CCGGGACTGAGTGGGGACAGCCACACAAGTTAAACTCTAGATTAAATTCC TCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACAC AAGTTAGACTCTAGATTAAATTCCTCCTTGGTTAGCCTGACCCGTGCCCG GGACTCAGTGGGGACAGCCACACAAGTTAGACTCTAGATTAAATTCCTCC TTGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCCACG	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0153 a0001c0001t0003g0153	1	258	0.0039	294	c.339 others(311): Show c.339+1582_339+1583insCGTGCCCGGGACTGAGTGGGGACAGCCA CACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTG CCCGGGACTCAGTGGGGACAGCCACACAAGTTAGACTCTAGATTAAATTC CTCCTTGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACAC AAGTTAGACTCTAGATTAAATTCCTCCTTGGTTAGCCTGACCCATGCCCG GGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCC CGCGGTTAGCCTGACC	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46293046	G G	GCCCGGGA others(287): Show GCCCGGGACTCAGTGGGGACAGCCACACAAGTTAAACTCTAGATTAAATT CCTCCCGCGGTTAGCCTGACCTGTGCCCGGGACTCAGTGGGGACAGCCAC ACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCTGTGC CCGGGACTCAGTGGGGACAGCCACACAAGTTAAACTCTAGATTAAATTCC TCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGGGACAGCCACGC AAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCA	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0160 a0001c0001t0004g0160	1	328	0.0030	294	c.339 others(311): Show c.339+1584_339+1585insCCCGGGACTCAGTGGGGACAGCCACACA AGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCTGTGCCCG GGACTCAGTGGGGACAGCCACACAAGTTAAACTCTAGATTAAATTCCTCC CGCGGTTAGCCTGACCTGTGCCCGGGACTCAGTGGGGACAGCCACACAAG TTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGG ACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCG CGGTTAGCCTGACCCA	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4			chr21	TogoVar
YBEY_chr21_46281342_46302751	46293063	G G	GAGTCAGC others(287): Show GAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGC CTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAGACTCTA GATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGA GTCAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCT GACCCATGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAGACTCTAGA TTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	394	0.0025	294	c.339 others(311): Show c.339+1601_339+1602insAGTCAGCCACACAAGTTAAACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGAC AGCCACACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGAC CCATGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTA AATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAG CCACACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCC ATGCCCGGGACTCAGT	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4			chr21	TogoVar
YBEY_chr21_46281342_46302751	46293507	G G	GAGTCAGC others(287): Show GAGTCAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGC CTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTA GATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGA GTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCT GACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGA TTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	398	0.0025	294	c.339 others(311): Show c.339+2045_339+2046insAGTCAGCCACGCAAGTTAAACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGAC AGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGAC CCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTA AATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAG CCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCC GTGCCCGGGACTCAGT	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4			chr21	TogoVar
ZNF516_chr18_76352682_76500242	76401788	C C	CCCCCGCG others(287): Show CCCCCGCGCCGCACCTCTCCACCACCAACCACACCCCCGCGCCGCACCTC TCCACCACCAACCACACCCCCGCGCCGCACCCCTCCACCACCAACCACAC CCCCGCGCCGCACCCCTCCACCACCAACCACAGCCCCGCGCCGCACCCCT CCACCACCAACCACACCCCCGCGCTCCATCTCTCCACCAACCACACCCCC GCGCCGCACCCCTCCACCACCAACCACACCCCCGCGCCGCACCCCTCCAC CACCAACCACAGCCCCGCGCCGCACCCCTCCACCACCAACCACAG	intron_variant intron_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0252 a0001c0001t0012g0252	1	37	0.0270	294	c.181 others(315): Show c.1811-21486_1811-21485insCTGTGGTTGGTGGTGGAGGGGTGC GGCGCGGGGCTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGTT GGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGGAGAGATGGAGCG CGGGGGTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGCTGTGGTTGGTG GTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGGTGGAGGGGTGCGGCGC GGGGGTGTGGTTGGTGGTGGAGAGGTGCGGCGCGGGGGTGTGGTTGGTGG TGGAGAGGTGCGGCGCGGGG	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF543_chr19_57315472_57335770	57319455	C C	CATACATA others(287): Show CATACATATATACATATATACACATATACATACATATATACATATATATA CATATACATACATATATACATATATATACATATACATACATATATATACA TATATATACATATACATACATATATATACATATATATACATATACATACA TATATACATATATATACATATACATACATATATACATATATATACATATA CATACATATATATACATATATATACATATACATACATATATATACATATA TATACATATACATACATATATACATATATACATATACATACATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	387	0.0026	294	c.-13 others(305): Show c.-1399_-1398insATACATATATACATATATACACATATACATACAT ATATACATATATATACATATACATACATATATACATATATATACATATAC ATACATATATATACATATATATACATATACATACATATATATACATATAT ATACATATACATACATATATACATATATATACATATACATACATATATAC ATATATATACATATACATACATATATATACATATATATACATATACATAC ATATATATACATATATATACATATACATACATATATACATATATACATAT ACATACATAT	ZNF543	ENSG00000178229.8	transcript	ENST00000321545.5	protein_coding		1016		chr19	TogoVar
ABR_chr17_998519_1184981	1065018	C C	CGTGAACT others(288): Show CGTGAACTGAGGGCTATGCATGTTCCTCCAGACACTGTTGTTATGTGAAC TGAGGGCTATGCATGTTCCTCTAGACACTGTTGTTATGTGAACTGAGGGC TATGCATGTTCCTCTAGACACTGTTATGTGAACTGAGGGTTATGCATGTT CCTCTAGACACTGTTGTTACGTGAAGTGAGGGCTATACATGTTCCTCTAG ACACTGCTGTTATGTGAACTGAGGGCTATGCATGTTCCTCTAGACACTGT TGTTATGTGAACTGAGGGCTATGCATGTTCCTCTAGACACTGTTAT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02055.hp1 HG02970.hp2 others(1): Show HG00741.hp2 HG02055.hp1 HG02970.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 a0001c0001t0001 a0001c0001t0005 a0001c0001t0009	a0001c0001t0001g0225 a0001c0001t0005g0298 a0001c0001t0009g0031 others(1): Show a0001c0001t0001g0225 a0001c0001t0005g0298 a0001c0001t0009g0031 a0001c0001t0009g0035	4	318	0.0126	295	c.118 others(314): Show c.1182+2058_1182+2059insATAACAGTGTCTAGAGGAACATGCAT AGCCCTCAGTTCACATAACAACAGTGTCTAGAGGAACATGCATAGCCCTC AGTTCACATAACAGCAGTGTCTAGAGGAACATGTATAGCCCTCACTTCAC GTAACAACAGTGTCTAGAGGAACATGCATAACCCTCAGTTCACATAACAG TGTCTAGAGGAACATGCATAGCCCTCAGTTCACATAACAACAGTGTCTAG AGGAACATGCATAGCCCTCAGTTCACATAACAACAGTGTCTGGAGGAACA TGCATAGCCCTCAGTTCAC	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	10/22			chr17	TogoVar
ACOD1_chr13_76943511_76963638	76961647	T T	TAAAAAGC others(288): Show TAAAAAGCACAAAATAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAG GTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTAC TAAAAATACAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTCGTCCC AGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGA GCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGA GCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00738.hp1 HG01175.hp2 others(15): Show HG00438.hp2 HG00738.hp1 HG01175.hp2 HG01257.hp2 HG01517.hp1 HG01975.hp1 HG01978.hp2 HG02148.hp1 NA18948.hp1 NA18952.hp1 NA18971.hp1 NA18973.hp2 NA19007.hp1 NA19062.hp1 NA19062.hp2 NA19077.hp2 NA19086.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0003 a0001c0001t0001g0045 a0001c0001t0001g0070 others(4): Show a0001c0001t0001g0003 a0001c0001t0001g0045 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0004t0001g0003	18	414	0.0435	295	c.36 others(306): Show c.3662_*3663insAAAAAGCACAAAATAGCACTTTGGGAGGCCGAGG CGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTG AAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTAGTGGCG GGCGCCTGTCGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTG AACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCC AGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAA	ACOD1	ENSG00000102794.11	transcript	ENST00000377462.6	protein_coding		3010		chr13	TogoVar
ADAMTS3_chr4_72275969_72574221	72456152	A A	ATATATAG others(288): Show ATATATAGTATATATACTGTATATACTATATATATTTTATATATAGTATA TATACTGTATATACTATATATATTTTATATATAGTATATATACTGTATAT ACTATATATATTTTATATATATTTTATATATAGTATGTACTCTATATATT TTATATATAGTATGTACTCTATATATTTTATATATAGTATGTACTCTATT TTATATATAGTATGTACTCTATATATTTTATATATAGTATGTACTCTATA TATTTTATATATAGTATGTACTATATATTTTATATATAGTATGTAC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	155	0.0065	295	c.505 others(314): Show c.505-41182_505-41181insGTACATACTATATATAAAATATATAG TACATACTATATATAAAATATATAGAGTACATACTATATATAAAATATAT AGAGTACATACTATATATAAAATAGAGTACATACTATATATAAAATATAT AGAGTACATACTATATATAAAATATATAGAGTACATACTATATATAAAAT ATATATAAAATATATATAGTATATACAGTATATATACTATATATAAAATA TATATAGTATATACAGTATATATACTATATATAAAATATATATAGTATAT ACAGTATATATACTATATA	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	3/21			chr4	TogoVar
ADCY4_chr14_24313359_24340071	24325222	G G	GCTTTGGG others(288): Show GCTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCA TCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAT TAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAG ATTGCGCCACTGCAGTCCGCAGTCCCACCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATAAGGGCCA	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0268 a0001c0001t0004g0268	1	383	0.0026	295	c.182 others(312): Show c.1823+154_1823+155insTGGCCCTTATCTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTGGGACTGC GGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTT CACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCC CGCCACCGCGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTT TCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCC GCCTCGGCCTCCCAAAG	ADCY4	ENSG00000129467.14	transcript	ENST00000418030.7	protein_coding	14/24			chr14	TogoVar
AGMO_chr7_15195317_15567015	15529638	A A	ATATAGTA others(288): Show ATATAGTATATATATTCTATATACAGAATATATATACTATATATATTCTG TATACAGAATATATATACTATATATATTCTATATACAGAATATATATACT ATATATATATTCTATATATAGAATATATATACTATATATATTCTATATAC AGAATATATATAGTATATATATTCTATATACAGAATATATATAGTATATA TATTCTATATATAGAATATATATAGTATATATATTCTATATATAGAATAT ATATAGTATATATTCTGTATATAGAATATATATACTATATTAATTC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp2 HG02572.hp1 others(1): Show HG02109.hp1 HG02109.hp2 HG02572.hp1 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0003g0181 others(1): Show a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0003g0181 a0001c0001t0004g0183	4	60	0.0667	295	c.409 others(314): Show c.409+15133_409+15134insGAATTAATATAGTATATATATTCTAT ATACAGAATATATACTATATATATTCTATATATAGAATATATATACTATA TATATTCTATATATAGAATATATATACTATATATATTCTGTATATAGAAT ATATATACTATATATATTCTGTATATAGAATATATATAGTATATATATTC TATATATAGAATATATATATAGTATATATATTCTGTATATAGAATATATA TAGTATATATATTCTGTATACAGAATATATATAGTATATATATTCTGTAT ATAGAATATATATACTATA	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
ALPL_chr1_21504423_21583410	21527015	G G	GTTCTTTT others(288): Show GTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0272 a0001c0001t0003g0272	1	44	0.0227	295	c.-10 others(316): Show c.-105+17529_-105+17530insTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTT	ALPL	ENSG00000162551.14	transcript	ENST00000374840.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
ANK3_chr10_60021298_60394875	60365093	T T	TAGATGCT others(288): Show TAGATGCTCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCA GGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAA AATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTA CTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTG CAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCAACA GAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0071 a0001c0071	a0001c0071t0001 a0001c0071t0001	a0001c0071t0001g0096 a0001c0071t0001g0096	1	187	0.0053	295	c.114 others(314): Show c.114+24331_114+24332insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCCGGACTGCGGACTGCAGT GGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTC TCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCG CCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAG CCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCC CAAAGTGCTGGGAGCATCT	ANK3	ENSG00000151150.22	transcript	ENST00000280772.7	protein_coding	1/43			chr10	TogoVar
ARHGAP39_chr8_144524179_144690846	144531191	A A	AGAGCAGC others(288): Show AGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGC ACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGG CAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAG CAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGC TAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGG GGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGC	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	145	0.0069	295	c.298 others(312): Show c.2981-321_2981-320insGCTGCCCTGTGCCCTTCTGCCGTGCCTG CTATGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGTGCCCTTCTG CCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGT GCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCG CTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACC TGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCA CTCCCCACCTGCTGCTC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	10/11			chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144531486	C C	GGAGCAGC others(288): Show GGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGC ACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGG CAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAG CAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGC TAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGG GGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGC	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	208	0.0048	295	c.298 others(312): Show c.2981-615_2981-614insCTGCCCTGTGCCCTTCTGCCGTGCCTGC TATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGC CGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGTG CCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCCC TGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCT GCTGCTCCCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCAC TCCCCACCTGCTGCTCC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	10/11			chr8	TogoVar
ARHGEF7_chr13_111110310_111310732	111221373	A A	ATATATGT others(288): Show ATATATGTCTATATATATCTATATAGATATATATGTCTATATATATCTAT ATAGATATATATGTCTATATATATCTATATAGATATATATGTCTATATAT ATCTATATAGATATATATGTCTATATATATCTATATAGATATATATGTCT ATATATATCTATATAGATATATATGTCTATATATATCTATATAGATATAT ATGTCTATATATATCTATATAGATATATATGTCTATATATATCTATATAT AGATATATATGTCTATATATATCTATATATAGATATATATAGACAT	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0110 a0001c0001t0005g0110	1	266	0.0038	295	c.670 others(312): Show c.670+3496_670+3497insATGTCTATATATATCTATATAGATATAT ATGTCTATATATATCTATATAGATATATATGTCTATATATATCTATATAG ATATATATGTCTATATATATCTATATAGATATATATGTCTATATATATCT ATATAGATATATATGTCTATATATATCTATATAGATATATATGTCTATAT ATATCTATATAGATATATATGTCTATATATATCTATATAGATATATATGT CTATATATATCTATATATAGATATATATGTCTATATATATCTATATATAG ATATATATAGACATTAT	ARHGEF7	ENSG00000102606.20	transcript	ENST00000646102.2	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr13	TogoVar
ARID1B_chr6_156772378_157215779	157147227	A A	ACCCCCGC others(288): Show ACCCCCGCCTCCGACCCTGCCCTCCATCCCTCACCCCCCGCCTCCGGCCC TGCCCGCCAGCCCTCACCTCCGCCTCCGACCCTGCCCGCCTTCCCTTACC CCCGCCTCCGGCCCTGCCCTCCATCCCTCACCCCCGCCTCCGGCCCTGCC CTCCGGCCCTCACCCCAGCCTCCGGCCCTGCCCTCCGTCCCCCACCCCAG CCTCCGACCCTGCCCGCCAGTCCTCACCCCCGCCTCCGACCCTGCCCGCC TTCCCTCACCCCCGCCTCCGGCCCTGCCCTCCGGCCCCCACCCCAG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02258.hp1 HG02809.hp2 others(6): Show HG02109.hp2 HG02258.hp1 HG02809.hp2 HG02965.hp2 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp2 NA19030.hp1	a0001 a0002 a0006 others(3): Show a0001 a0002 a0006 a0010 a0019 a0023	a0001c0007 a0001c0016 a0002c0003 others(5): Show a0001c0007 a0001c0016 a0002c0003 a0002c0014 a0006c0038 a0010c0032 a0019c0028 a0023c0040	a0001c0007t0001 a0001c0007t0002 a0001c0016t0001 others(6): Show a0001c0007t0001 a0001c0007t0002 a0001c0016t0001 a0002c0003t0018 a0002c0014t0002 a0006c0038t0002 a0010c0032t0015 a0019c0028t0001 a0023c0040t0002	a0001c0007t0001g0137 a0001c0007t0002g0006 a0001c0016t0001g0145 others(6): Show a0001c0007t0001g0137 a0001c0007t0002g0006 a0001c0016t0001g0145 a0002c0003t0018g0023 a0002c0014t0002g0024 a0006c0038t0002g0039 a0010c0032t0015g0091 a0019c0028t0001g0075 a0023c0040t0002g0044	9	10	0.9000	295	c.276 others(314): Show c.2762-1395_2762-1394insCCCGCCTCCGACCCTGCCCTCCATCC CTCACCCCCCGCCTCCGGCCCTGCCCGCCAGCCCTCACCTCCGCCTCCGA CCCTGCCCGCCTTCCCTTACCCCCGCCTCCGGCCCTGCCCTCCATCCCTC ACCCCCGCCTCCGGCCCTGCCCTCCGGCCCTCACCCCAGCCTCCGGCCCT GCCCTCCGTCCCCCACCCCAGCCTCCGACCCTGCCCGCCAGTCCTCACCC CCGCCTCCGACCCTGCCCGCCTTCCCTCACCCCCGCCTCCGGCCCTGCCC TCCGGCCCCCACCCCAGCC	ARID1B	ENSG00000049618.25	transcript	ENST00000636930.2	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
ATG2B_chr14_96274195_96368341	96340148	A A	AATATATA others(288): Show AATATATATATCATATATGATATATATGAATATATATATCATATATGATA TATATGAATATATATATCATATATGATATATATGAATATATATATCATAT ATGATATATATGAATATATATATCATATATGATATATATGAATATATATA TCATATATGATATATATGAATATATATATCATATATGATATATATGAATA TATATATCATATATTATATATGATATATATATCATATATGATATATATGA ATATATATATCATATATGATATATATGAATATATATATCATATATG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0006 a0002c0001t0006	a0002c0001t0006g0163 a0002c0001t0006g0163	1	268	0.0037	295	c.924 others(312): Show c.924+1373_924+1374insCATATATGATATATATATTCATATATAT CATATATGATATATATATTCATATATATCATATATGATATATATATCATA TATAATATATGATATATATATTCATATATATCATATATGATATATATATT CATATATATCATATATGATATATATATTCATATATATCATATATGATATA TATATTCATATATATCATATATGATATATATATTCATATATATCATATAT GATATATATATTCATATATATCATATATGATATATATATTCATATATATC ATATATGATATATATAT	ATG2B	ENSG00000066739.12	transcript	ENST00000359933.6	protein_coding	6/41			chr14	TogoVar
ATP10A_chr15_25673712_25868327	25758008	C C	CCGACCAC others(288): Show CCGACCACCTGCTCCACCCTCATTCCGACCACCTGCTCCACCCTAACTCA TTCCGATCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCT CATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACC CTAACTCATTCCGATCACCTGCTCCACCCTCATTCCGACCACCTGCTCCA CCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCT GCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATT	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	295	0.0034	295	c.655 others(314): Show c.655-21868_655-21867insAATGAGTTAGGGTGGAGCAGGTGGTC GGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAG GTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGGGTGGAGC AGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAGGG TGGAGCAGGTGGTCGGAATGAGGGTGGAGCAGGTGATCGGAATGAGTTAG GGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATG AGGGTGGAGCAGGTGGTCG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10B_chr5_160558120_160857211	160653921	A A	AATATATG others(288): Show AATATATGTTGTATATACGTATATACATATATAAATATATGTTGTATATA CGTATATACATATATAAATATATGTTGTATATACGTATATACATATATAA ATATATGTTGTATATACGTATATACATATATAAATATATGTTGTATATAC GTATATACAACATAAATATATGTTGTATATACGTATATACAACATAAATA TATGTTGTATATACGTATATACAACATAAATATATGTTGTATATACGTAT ATACAACATAAATATATGTTGTATATACGTATATACATATATAAAT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp2 HG01123.hp1 others(25): Show HG00621.hp1 HG00621.hp2 HG01123.hp1 HG01168.hp1 HG01169.hp2 HG01255.hp1 HG01256.hp1 HG01433.hp1 HG01496.hp1 HG01943.hp1 HG01993.hp1 HG02155.hp1 HG02273.hp1 HG02300.hp1 HG02738.hp1 HG03195.hp2 HG03688.hp1 HG03704.hp2 HG03834.hp1 HG03942.hp2 HG04199.hp1 HG04228.hp2 NA18948.hp1 NA18957.hp2 NA18982.hp1 NA19065.hp2 NA19067.hp1 NA20905.hp2	a0001 a0002 a0019 others(1): Show a0001 a0002 a0019 a0020	a0001c0001 a0001c0002 a0002c0003 others(3): Show a0001c0001 a0001c0002 a0002c0003 a0002c0004 a0019c0038 a0020c0025	a0001c0001t0029 a0001c0002t0044 a0002c0003t0005 others(8): Show a0001c0001t0029 a0001c0002t0044 a0002c0003t0005 a0002c0003t0006 a0002c0003t0010 a0002c0004t0004 a0002c0004t0008 a0002c0004t0032 a0002c0004t0052 a0019c0038t0022 a0020c0025t0033	a0001c0001t0029g0139 a0001c0002t0044g0039 a0002c0003t0005g0012 others(25): Show a0001c0001t0029g0139 a0001c0002t0044g0039 a0002c0003t0005g0012 a0002c0003t0005g0013 a0002c0003t0005g0025 a0002c0003t0005g0057 a0002c0003t0005g0063 a0002c0003t0005g0128 a0002c0003t0005g0147 a0002c0003t0005g0190 a0002c0003t0006g0037 a0002c0003t0006g0042 a0002c0003t0006g0054 a0002c0003t0006g0070 a0002c0003t0006g0097 a0002c0003t0006g0098 a0002c0003t0006g0100 a0002c0003t0010g0016 a0002c0004t0004g0146 a0002c0004t0004g0204 a0002c0004t0004g0230 a0002c0004t0004g0233 a0002c0004t0008g0049 a0002c0004t0008g0050 a0002c0004t0032g0234 a0002c0004t0052g0235 a0019c0038t0022g0133 a0020c0025t0033g0212	28	125	0.2240	295	c.676 others(312): Show c.676-4666_676-4665insATTTATATATGTATATACGTATATACAA CATATATTTATGTTGTATATACGTATATACAACATATATTTATGTTGTAT ATACGTATATACAACATATATTTATGTTGTATATACGTATATACAACATA TATTTATGTTGTATATACGTATATACAACATATATTTATATATGTATATA CGTATATACAACATATATTTATATATGTATATACGTATATACAACATATA TTTATATATGTATATACGTATATACAACATATATTTATATATGTATATAC GTATATACAACATATAT	ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	7/25			chr5	TogoVar
ATP11A_chr13_112685038_112892168	112723285	T T	TCCCCACC others(288): Show TCCCCACCTCCCCCCACCCCCCCCACCTCCCCCACCCCCCCACCCCCCAC CTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCACCCACCTCC CCCCACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCC CACCTCCCCCACCCCCCACCTCCCCCCACCCCCCACCCCCACCCCCTACC CCCCACCCCCCACCTCCCCCCACCCCCCACCCCTACCCCCCACCCCCCAC CTCCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00741.hp1 HG00741.hp2 others(5): Show HG00099.hp1 HG00741.hp1 HG00741.hp2 HG03669.hp1 HG03688.hp2 NA18973.hp2 NA19007.hp2 NA19081.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0005 others(1): Show a0001c0001 a0001c0004 a0001c0005 a0002c0003	a0001c0001t0001 a0001c0001t0054 a0001c0001t0056 others(5): Show a0001c0001t0001 a0001c0001t0054 a0001c0001t0056 a0001c0004t0001 a0001c0005t0001 a0001c0005t0009 a0002c0003t0002 a0002c0003t0009	a0001c0001t0001g0132 a0001c0001t0054g0176 a0001c0001t0056g0008 others(5): Show a0001c0001t0001g0132 a0001c0001t0054g0176 a0001c0001t0056g0008 a0001c0004t0001g0017 a0001c0005t0001g0091 a0001c0005t0009g0174 a0002c0003t0002g0192 a0002c0003t0009g0143	8	12	0.6667	295	c.39+ others(312): Show c.39+32844_39+32845insACCCCCCCCACCTCCCCCACCCCCCCAC CCCCCACCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCACC CACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCCC CACCCCCCACCTCCCCCACCCCCCACCTCCCCCCACCCCCCACCCCCACC CCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCACCCCTACCCCCCAC CCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCA CCCCCCCACCTCCCCCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112723285	T T	TCCCCACC others(288): Show TCCCCACCTCCCCCCACCCCCCCCACCTCCCCCCACCCCCCCACCCCCCA CCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCACCCACCTC CCCCCACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCC CCACCTCCCCCACCCCCCACCTCCCCCCACCCCCACCCCCACCCCCTACC CCCCACCCCCCACCTCCCCCCACCCCCCACCCCTACCCCCCACCCCCCAC CTCCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCC	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0125 a0001c0005t0001g0125	1	5	0.2000	295	c.39+ others(312): Show c.39+32844_39+32845insACCCCCCCCACCTCCCCCCACCCCCCCA CCCCCCACCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCAC CCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCC CCACCCCCCACCTCCCCCACCCCCCACCTCCCCCCACCCCCACCCCCACC CCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCACCCCTACCCCCCAC CCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCA CCCCCCCACCTCCCCCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112723285	T T	TCCCCACC others(288): Show TCCCCACCTCCCCCCACCCCCCCCCACCTCCCCCACCCCCCCACCCCCCC ACCTCCCCCACCTCCCCCCCACCCCCCACCTCCCCCCACCCCCACCCACC TCCCCCCACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCCCCACC CCCCACCTCCCCCACCCCCCACCTCCCCCCACCCCCCCACCCCCACCCCC TACCCCCACCCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCACCCC TACCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0142 a0001c0001t0019g0142	1	5	0.2000	295	c.39+ others(312): Show c.39+32844_39+32845insACCCCCCCCCACCTCCCCCACCCCCCCA CCCCCCCACCTCCCCCACCTCCCCCCCACCCCCCACCTCCCCCCACCCCC ACCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCACCCACCTCC CCCCACCCCCCACCTCCCCCACCCCCCACCTCCCCCCACCCCCCCACCCC CACCCCCTACCCCCACCCCCTACCCCCCACCCCCCACCTCCCCCCACCCC CCACCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCA CCCCCCCACCTCCCCCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP2B4_chr1_203621832_203749081	203657871	T T	TAAAAATA others(288): Show TAAAAATATTTGTAGTACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGT CAGGAGATCGAGACCATCCCGGCTATAACGGTGAAACCCCGTCTCTACTA AAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGC TACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCT TGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	309	0.0032	295	c.-46 others(316): Show c.-464-24855_-464-24854insCTTTGGGAGGCCGAGGCGGGCGGA TCACGAGGTCAGGAGATCGAGACCATCCCGGCTATAACGGTGAAACCCCG TCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGT AGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGA GGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGC GACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAATATTTGTAGTA	ATP2B4	ENSG00000058668.16	transcript	ENST00000357681.10	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
ATP9B_chr18_79064394_79383283	79200733	C C	CAGGGTCA others(288): Show CAGGGTCAGAGCAGAGGCGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGG TGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTC GGGGTCAGAGCAGAGGCGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGT GGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCG GGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTG GAGGTGGGAACGTTGGGGTCAGAGCAGAGGTGGAGGTGGGAACGTT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0003 a0006c0012t0003	a0006c0012t0003g0219 a0006c0012t0003g0219	1	278	0.0036	295	c.955 others(312): Show c.955-6204_955-6203insAGGGTCAGAGCAGAGGCGGAGGTGGGAA CTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCA GAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGCGGAGGTGGGGAC TGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAG AGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACT GTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACGTTGGGGTCAGAGCAGAG GTGGAGGTGGGAACGTT	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	9/29			chr18	TogoVar
AZU1_chr19_822837_837018	835500	G G	GCAGCCCC others(288): Show GCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGT CCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCCGCAGCCCCGTCCAGG CCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGAC GCGTGCGGCCCCCACCCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGC CCCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACC CCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCTGGCAGAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	296	0.0034	295	c.36 others(306): Show c.3623_*3624insCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCC GCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCC CGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCCGCAGCCCCGTCCAGGC CCCGACGCGTGCAGCCCCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACG CGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCC CCTGGCAGAGC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3483		chr19	TogoVar
BAZ2B_chr2_159313979_159621548	159501205	T T	TTATATAT others(288): Show TTATATATATTATATATATATTTATATATATATAATATATATATTTATAT ATATATATATTATATATATATTTATATATATATATTATATATATATTTAT ATATATATATATATTATATATATTTATATATATATATATATATATATTAT ATATATATTTATATATATATATTATATATATATTTATATATATATATTAT ATATATATTTATATATATATATATTATATATATATTTATATATATATATA TTATATATATATTTATATATATATATATTATATATATATTTATATA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	163	0.0061	295	c.-2- others(312): Show c.-2-22485_-2-22484insTATATAAATATATATATAATATATATAT ATATAAATATATATATAATATATATATATATAAATATATATATAATATAT ATATATATAAATATATATATAATATATATATATAAATATATATATAATAT ATATATATAAATATATATATAATATATATATATATATATATATAAATATA TATAATATATATATATATATAAATATATATATAATATATATATATAAATA TATATATAATATATATATATATAAATATATATATTATATATATATAAATA TATATATAATATATATA	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	2/36			chr2	TogoVar
BAZ2B_chr2_159313979_159621548	159501205	T T	TTATATAT others(288): Show TTATATATATTATATATATATTTATATATATATATAATATATATATTTAT ATATATATATATTATATATATATTTATATATATATTATATATATATTTAT ATATATATATATATTATATATATTTATATATATATATATATATATATTAT ATATATATTTATATATATATATATTATATATATATTTATATATATATATT ATATATATATTTATATATATATATATTATATATATATTTATATATATATA TTATATATATATTTATATATATATATATTATATATATATTTATATA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0013 a0013	a0013c0030 a0013c0030	a0013c0030t0001 a0013c0030t0001	a0013c0030t0001g0039 a0013c0030t0001g0039	1	163	0.0061	295	c.-2- others(312): Show c.-2-22485_-2-22484insTATATAAATATATATATAATATATATAT ATATAAATATATATATAATATATATATATAAATATATATATAATATATAT ATATATAAATATATATATAATATATATATATAAATATATATATAATATAT ATATATATAAATATATATATAATATATATATATATATATATATAAATATA TATAATATATATATATATATAAATATATATATAATATATATATAAATATA TATATAATATATATATATATAAATATATATATTATATATATATATAAATA TATATATAATATATATA	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	2/36			chr2	TogoVar
C2CD4C_chr19_400445_414147	404030	T T	TGGGGGGG others(288): Show TGGGGGGGGGACGGGGTCCTGCCCCGAGGGGTGTGAGGGGGGGACGGGGC CCTGCCCTGAGGGGTGTGGGGGGGACGGGGCCCTGTCCCGAGGGGTGTGA GGGGGGGACGGGGTCCTGTCCCGAGGGGTGTGAGGGGGGGACGGGGTCCT GTCCCGAGGGGTGTGAGGGGGGGACGGGGCCCTGCCCCGAGGGGTGTGGG GGGGACGGGGTCCTGCCCCGAGGGGTGTGAGGGGGGGACGGGGCCCTGCC CTGAGGGGTCTGAGGGGGGGACGGGGTCCTGTCCCGAGGGGTGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0014 a0001c0001t0016g0014	1	165	0.0061	295	c.30 others(306): Show c.3065_*3066insTCACACCCCTCGGGACAGGACCCCGTCCCCCCCT CAGACCCCTCAGGGCAGGGCCCCGTCCCCCCCTCACACCCCTCGGGGCAG GACCCCGTCCCCCCCACACCCCTCGGGGCAGGGCCCCGTCCCCCCCTCAC ACCCCTCGGGACAGGACCCCGTCCCCCCCTCACACCCCTCGGGACAGGAC CCCGTCCCCCCCTCACACCCCTCGGGACAGGGCCCCGTCCCCCCCACACC CCTCAGGGCAGGGCCCCGTCCCCCCCTCACACCCCTCGGGGCAGGACCCC GTCCCCCCCCC	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1414		chr19	TogoVar
C2CD4C_chr19_400445_414147	404613	C C	CGGGGTCC others(288): Show CGGGGTCCTGCCCTGAGGGGTCTGAGGGGGTACGGGGTCCTGCCCTGAGG GGTGTGGAGGGGGGAACGGGGTCCTGCCCTGAGGGGTGTGGAGGGGGGAT GGGGTCCTGCCCTGAGGGGTGTGGGGGGGGATGGGGTCCTGCCCTGAGGG GTCTGAGGGGGTACGGGGTCCTGCCTTGAGGGGTGTGGGGGGGAACGGGG TCCTGCCCTGAGGGGTGTGGAGGGGGGATGGGGTCCTGCCCTGAGGGGTG TGGAGGGGGGATGGGGTCCTGCCCTGAGGGGTGTGGAGGGGGGATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0014 a0001c0001t0016g0014	1	162	0.0062	295	c.24 others(306): Show c.2482_*2483insCATCCCCCCTCCACACCCCTCAGGGCAGGACCCC ATCCCCCCTCCACACCCCTCAGGGCAGGACCCCATCCCCCCTCCACACCC CTCAGGGCAGGACCCCGTTCCCCCCCACACCCCTCAAGGCAGGACCCCGT ACCCCCTCAGACCCCTCAGGGCAGGACCCCATCCCCCCCCACACCCCTCA GGGCAGGACCCCATCCCCCCTCCACACCCCTCAGGGCAGGACCCCGTTCC CCCCTCCACACCCCTCAGGGCAGGACCCCGTACCCCCTCAGACCCCTCAG GGCAGGACCCC	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		831		chr19	TogoVar
C2CD4C_chr19_400445_414147	405077	T T	TGAGGGGT others(288): Show TGAGGGGTGTGGGGGGGACGGGGTCCTGCCCTGAGGGGTGTGGAGGGGGG AACGGGGTCCTGCCCTGAGGGGTGTGGAGGGGGGACGGGGTCCTGCCCTG AGGGGTGTGGGGGGGACGGGGTCCTGCCCTGAGGGGTGTGAGGGGGGATG GGGTCCTGCCCTGAGGGGTGTGGAGGGGGGACGGGGTCCTGCCCTGAGGG GTGTGAGGGGGGGACGGGGTCCTGTCCTGAGGGGTGTGGAGGGGGGAACG GGGTCCTGCCCTGAGGGGTGTGGGGGGGGGGACGGGGTCCTGTCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0111 a0001c0001t0111	a0001c0001t0111g0091 a0001c0001t0111g0091	1	286	0.0035	295	c.20 others(306): Show c.2018_*2019insGGGACAGGACCCCGTCCCCCCCCCCACACCCCTC AGGGCAGGACCCCGTTCCCCCCTCCACACCCCTCAGGACAGGACCCCGTC CCCCCCTCACACCCCTCAGGGCAGGACCCCGTCCCCCCTCCACACCCCTC AGGGCAGGACCCCATCCCCCCTCACACCCCTCAGGGCAGGACCCCGTCCC CCCCACACCCCTCAGGGCAGGACCCCGTCCCCCCTCCACACCCCTCAGGG CAGGACCCCGTTCCCCCCTCCACACCCCTCAGGGCAGGACCCCGTCCCCC CCACACCCCTC	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		367		chr19	TogoVar
C8orf82_chr8_144520733_144534111	144531191	A A	AGAGCAGC others(288): Show AGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGC ACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGG CAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAG CAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGC TAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGG GGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	235	0.0043	295	c.-22 others(306): Show c.-2276_-2275insGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGT CTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGTGCCCTTCTGCCGTGC CTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTT CTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCC TGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGC TCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCC ACCTGCTGCTC	C8orf82	ENSG00000213563.7	transcript	ENST00000524821.6	protein_coding		2081		chr8	TogoVar
C8orf82_chr8_144520733_144534111	144531486	C C	GGAGCAGC others(288): Show GGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGC ACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGG CAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAG CAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGC TAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGG GGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0001 a0001c0002t0002g0001	1	332	0.0030	295	c.-25 others(306): Show c.-2570_-2569insCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTC TAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCC TGCTATGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGTGCCCTTC TGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCCT GTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCT CCCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCA CCTGCTGCTCC	C8orf82	ENSG00000213563.7	transcript	ENST00000524821.6	protein_coding		2375		chr8	TogoVar
CACNA1B_chr9_137872782_138129619	137888962	A A	AACAGGTG others(288): Show AACAGGTGACAGCCCAGAGACGCTGCCTTCCCGCAAGGCGACCTGACGCT GTGTCTGAACACAGGTGACAGCCCAGAGACGCTGCCTTCCCACAAGGCGA CCTGACGCTGTGTCTGAACACAGGTGACAGCCCAGAGACGCTGCCTTCCC GCAAGGCGACCTGACGCTGTGTCTGAACACAGGTGACAGCCCAGAGACGC TGCCTTCCCGCAAGGCGACCTGACGCTGTGTCTGAACACAGGTGACAGCC CAGAGACGCTGCCTTCCCGCAAGGCGACCTGACGCTGTGTCTGAAC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0004 a0004	a0004c0023 a0004c0023	a0004c0023t0042 a0004c0023t0042	a0004c0023t0042g0076 a0004c0023t0042g0076	1	222	0.0045	295	c.530 others(312): Show c.530+6169_530+6170insACAAGGCGACCTGACGCTGTGTCTGAAC ACAGGTGACAGCCCAGAGACGCTGCCTTCCCGCAAGGCGACCTGACGCTG TGTCTGAACACAGGTGACAGCCCAGAGACGCTGCCTTCCCGCAAGGCGAC CTGACGCTGTGTCTGAACACAGGTGACAGCCCAGAGACGCTGCCTTCCCG CAAGGCGACCTGACGCTGTGTCTGAACACAGGTGACAGCCCAGAGACGCT GCCTTCCCGCAAGGCGACCTGACGCTGTGTCTGAACACAGGTGACAGCCC AGAGACGCTGCCTTCCC	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	3/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA1H_chr16_1148106_1226768	1204746	T T	TCCCAGAT others(288): Show TCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGAT CAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCG GGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGG TGGGAGCCGCGGGTGGGGGCCCAGATCAGTGCCGGGGAGGGGTGGGAGCC GCGGGTGGGGGCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGG GGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGC	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0054 a0001c0001t0015g0054	1	280	0.0036	295	c.245 others(312): Show c.2451+320_2451+321insCGGGTGGGGCCCCAGATCAGTGCCGGGG AGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGG GAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCG GGTGGGGGCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGG CCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGGCCCCAGAT CAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCG GGGAGGGGTGGGAGCCG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	10/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1204779	T T	TGGGTGGG others(288): Show TGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGG GCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGA TCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCC GGGGAGGGGTGGGAGCCGCGGGTGGGGGCCCAGATCAGTGCCGGGGAGGG GTGGGAGCCGCGGGTGGGGGCCCAGATCAGTGCCGGGGAGGGGTGGGAGC CGCGGGTGGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGC	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0132 a0001c0001t0002g0132	1	159	0.0063	295	c.245 others(312): Show c.2452-243_2452-242insCCCCAGATCAGTGCCGGGGAGGGGTGGG AGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGG GTGGGGGCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGGC CCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGGCCCCAGATC AGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGG GGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGT GGGAGCCGCGGGTGGGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	10/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1204779	T T	TGGGTGGG others(288): Show TGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGG GCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGA TCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGGCCCAGATCAGTGCC GGGGAGGGGTGGGAGCCGCGGGTGGGGGCCCAGATCAGTGCCGGGGAGGG GTGGGAGCCGCGGGTGGGGGCCCAGATCAGTGCCGGGGAGGGGTGGGAGC CGCGGGTGGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGC	intron_variant intron_variant	MODIFIER	HG03130.hp1 NA18522.hp1 HG03130.hp1 NA18522.hp1	a0001 a0060 a0001 a0060	a0001c0040 a0060c0085 a0001c0040 a0060c0085	a0001c0040t0001 a0060c0085t0003 a0001c0040t0001 a0060c0085t0003	a0001c0040t0001g0227 a0060c0085t0003g0047 a0001c0040t0001g0227 a0060c0085t0003g0047	2	160	0.0125	295	c.245 others(312): Show c.2452-243_2452-242insCCCCAGATCAGTGCCGGGGAGGGGTGGG AGCCGCGGGTGGGGGCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGG GTGGGGGCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGGC CCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGGCCCCAGATC AGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGG GGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGT GGGAGCCGCGGGTGGGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	10/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1204779	T T	TGGGTGGG others(288): Show TGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGG GCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGA TCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGGCCCAGATCAGTGCC GGGGAGGGGTGGGAGCCGCGGGTGGGGGCCCAGATCAGTGCCGGGGAGGG GTGGGAGCCGCGGGTGGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAG CCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGC	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18969.hp2 NA18954.hp1 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0296 a0001c0001t0014g0302 a0001c0001t0014g0296 a0001c0001t0014g0302	2	160	0.0125	295	c.245 others(312): Show c.2452-243_2452-242insCCCCAGATCAGTGCCGGGGAGGGGTGGG AGCCGCGGGTGGGGGCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGG GTGGGGGCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGGC CCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATC AGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGG GGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGT GGGAGCCGCGGGTGGGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	10/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1204872	G G	GCCCAGAT others(288): Show GCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGGCCCAGAT CAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCG GGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGG TGGGAGCCGCGGGTGGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGC CGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTG GGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGC	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01099.hp1 HG01074.hp2 HG01099.hp1	a0033 a0035 a0033 a0035	a0033c0082 a0035c0101 a0033c0082 a0035c0101	a0033c0082t0003 a0035c0101t0008 a0033c0082t0003 a0035c0101t0008	a0033c0082t0003g0096 a0035c0101t0008g0261 a0033c0082t0003g0096 a0035c0101t0008g0261	2	93	0.0215	295	c.245 others(312): Show c.2452-201_2452-200insGCCCAGATCAGTGCCGGGGAGGGGTGGG AGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGG GTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGGC CCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATC AGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGG GGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGT GGGAGCCGCGGGTGGGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	10/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1204872	G G	GCCCAGAT others(288): Show GCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGGCCCAGAT CAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGGCCCAGATCAGTGCCG GGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGG TGGGAGCCGCGGGTGGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGC CGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTG GGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGTGGGTGGGGC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02647.hp1 HG02647.hp2 others(3): Show HG02572.hp2 HG02647.hp1 HG02647.hp2 HG02818.hp1 HG03540.hp1 NA19030.hp2	a0002 a0012 a0051 a0002 a0012 a0051	a0002c0063 a0012c0024 a0012c0062 others(2): Show a0002c0063 a0012c0024 a0012c0062 a0012c0131 a0051c0061	a0002c0063t0001 a0012c0024t0001 a0012c0024t0002 others(3): Show a0002c0063t0001 a0012c0024t0001 a0012c0024t0002 a0012c0062t0001 a0012c0131t0002 a0051c0061t0002	a0002c0063t0001g0287 a0012c0024t0001g0303 a0012c0024t0002g0334 others(3): Show a0002c0063t0001g0287 a0012c0024t0001g0303 a0012c0024t0002g0334 a0012c0062t0001g0108 a0012c0131t0002g0331 a0051c0061t0002g0330	6	97	0.0619	295	c.245 others(312): Show c.2452-201_2452-200insGCCCAGATCAGTGCCGGGGAGGGGTGGG AGCCGCGGGTGGGGGCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGG GTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGGC CCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATC AGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGG GGAGGGGTGGGAGCCGTGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGT GGGAGCCGCGGGTGGGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	10/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1204956	G G	GCCCAGAT others(288): Show GCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGGCCCCAGA TCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCC GGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGG GTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGC CGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTG GGGACCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0061 a0061	a0061c0079 a0061c0079	a0061c0079t0004 a0061c0079t0004	a0061c0079t0004g0035 a0061c0079t0004g0035	1	167	0.0060	295	c.245 others(312): Show c.2452-155_2452-154insAGATCAGTGCCGGGGAGGGGTGGGAGCC GCGGGTGGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTG GGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCA GATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTG CCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAG GGGTGGGAGCCGCGGGTGGGGACCCAGATCAGTGCCGGGGAGGGGTGGGA GCCGCGGGTGGGGCCCC	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	10/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1204960	C C	CAGATCAG others(288): Show CAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAG TGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGG AGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGG GAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCG GGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGA CCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCA	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18964.hp2 NA18951.hp2 NA18964.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0002 a0002c0010t0005 a0002c0010t0002 a0002c0010t0005	a0002c0010t0002g0204 a0002c0010t0005g0271 a0002c0010t0002g0204 a0002c0010t0005g0271	2	32	0.0625	295	c.245 others(312): Show c.2452-154_2452-153insAGATCAGTGCCGGGGAGGGGTGGGAGCC GCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGG GGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAG ATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGC CGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGG GGTGGGAGCCGCGGGTGGGGACCCAGATCAGTGCCGGGGAGGGGTGGGAG CCGCGGGTGGGGCCCCA	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	10/34			chr16	TogoVar
CACNG8_chr19_53957937_53995215	53991045	G G	GCCCAGGC others(288): Show GCCCAGGCCTTCCTCCCTCAGACCCAGGAGCCCAGGCCCCCAGCCCCTCC TCCCTCAGACCCAGGAGCCCAGGCCCCAGCCCCTCCTCCCTCAGACCCAG GAGCCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTTCAGGCCCC CAGCCCCTCCTCCCTCAGACCCAGGAGTTCAGGCCCCCAGCCCCTCCTCC CTCAGACCCAGGAGCCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGA GCCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTTCAGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0040 a0001c0001t0046g0040	1	277	0.0036	295	c.81 others(306): Show c.8196_*8197insCCCAGGCCTTCCTCCCTCAGACCCAGGAGCCCAG GCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCAGCCCCTC CTCCCTCAGACCCAGGAGCCCAGGCCCCCAGCCCCTCCTCCCTCAGACCC AGGAGTTCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTTCAGGCC CCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCCAGCCCCTCCT CCCTCAGACCCAGGAGCCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAG GAGTTCAGGCC	CACNG8	ENSG00000142408.7	transcript	ENST00000270458.4	protein_coding		831		chr19	TogoVar
CALY_chr10_133319072_133341896	133334417	G G	GGGGGGAA others(288): Show GGGGGGAAGGATCTGAGCGGGGAAGGCTCTGAGGGGGGAAGGCTCTGAGG GGGGAAGGACATGAGGGGGAAGGATCTGAGGGGCGAAGGATCTGAGCGGG GAAGGCTCTGAGGGGGGAAGGCTCTGAGGGGGAAGGACATGAGGGAGAAG GATCTGAAAGGCGAAGGATCTGACGGGGGAAGGATCTGAGCGGGGAAGGC TCTGAGGGGGGAAGGCTCTGAAGGGGAGGCTCTGAGGGGGAAGGACATGA GGGGAAGGATCTGAGGGGCGAAGGATCTGAGCGGGGAAGGCTCTGA	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0055 a0001c0001t0006g0055	1	206	0.0049	295	c.-21 others(312): Show c.-21+2416_-21+2417insTCAGAGCCTTCCCCGCTCAGATCCTTCG CCCCTCAGATCCTTCCCCTCATGTCCTTCCCCCTCAGAGCCTCCCCTTCA GAGCCTTCCCCCCTCAGAGCCTTCCCCGCTCAGATCCTTCCCCCGTCAGA TCCTTCGCCTTTCAGATCCTTCTCCCTCATGTCCTTCCCCCTCAGAGCCT TCCCCCCTCAGAGCCTTCCCCGCTCAGATCCTTCGCCCCTCAGATCCTTC CCCCTCATGTCCTTCCCCCCTCAGAGCCTTCCCCCCTCAGAGCCTTCCCC GCTCAGATCCTTCCCCC	CALY	ENSG00000130643.9	transcript	ENST00000252939.9	protein_coding	1/5			chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12775335	G G	GTGAGAAG others(288): Show GTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCA TTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTG TGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCAT TGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGT GAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATT GATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGAC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0032	1	214	0.0047	295	c.565 others(312): Show c.565+5539_565+5833dupAGAAGGCTCAGGCATTGATCAGGTGAGA CTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGG CATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGAC TGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGC ATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACT GTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCA TTGATCAGGTGAGACTG	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK2D_chr4_113446032_113766738	113621259	T T	TCTGAATA others(288): Show TCTGAATATGCATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATC TCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTC AGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAA TTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGG TCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02970.hp2 HG02257.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0024 a0001c0001t0004 a0001c0001t0024	a0001c0001t0004g0164 a0001c0001t0024g0176 a0001c0001t0004g0164 a0001c0001t0024g0176	2	275	0.0073	295	c.221 others(314): Show c.221-12054_221-12053insCTTTGGGAGGCCGAGGCGGGCGGATC ACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTC TCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAG TCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGG CGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGA CAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAATGCATATTCAG	CAMK2D	ENSG00000145349.20	transcript	ENST00000511664.6	protein_coding	3/20			chr4	TogoVar
CAMSAP1_chr9_135803487_135912546	135847949	G G	GGGGAAGG others(288): Show GGGGAAGGGTGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGG GAGGGGAGTGGGGGGAAGGGGAGGGAGTGGGGGAAGGGGAGGGGAGTGGG GGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGAAGGGGAG GGGAGTGGGGGGAAGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGG GAAGGGGAGGGGTAGTGGGGGAGGGGAGTGGGGACGGAGTGGGGGGAAGG GGAGGGAGTGGGGGGAGGGGGGCAGGGAAGGGGAAGGGGAGGGGGA	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0062 a0001c0006t0001g0062	1	66	0.0152	295	c.104 others(314): Show c.1045+2187_1045+2188insTCCCCCTCCCCTTCCCCTTCCCTGCC CCCCTCCCCCCACTCCCTCCCCTTCCCCCCACTCCGTCCCCACTCCCCTC CCCCACTACCCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCACTCC CCTCCCTTCCCCCCACTCCCCTCCCCTTCCCCCACTCCCCTCCCCTTCCC CCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCACTCCCTC CCCTTCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCC CACTCCCCTCACCCTTCCC	CAMSAP1	ENSG00000130559.19	transcript	ENST00000389532.9	protein_coding	7/16			chr9	TogoVar
CAPN11_chr6_44153820_44189401	44181926	T T	TCACATAC others(288): Show TCACATACAGACACAACCACACGACACTCACACACACATACACACTCACA TACAGACACAACCACACCACACTCACACACACACACACACTCACATACAG ACACAACCACACCACACTCACACACACATACACACTCACATACAGACACA ACCACACCACACTCACACACACATACACACTCAAATACAGACACAACCAC ACCACACTCACACACACACACACTCACATACAGACACAACCACACCACAC ACACACACACACATACAGACACAACCACACCACACACACATACACA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	1	424	0.0024	295	c.193 others(312): Show c.1938+627_1938+628insGACACTCACACACACATACACACTCACA TACAGACACAACCACACCACACTCACACACACACACACACTCACATACAG ACACAACCACACCACACTCACACACACATACACACTCACATACAGACACA ACCACACCACACTCACACACACATACACACTCAAATACAGACACAACCAC ACCACACTCACACACACACACACTCACATACAGACACAACCACACCACAC ACACACACACACATACAGACACAACCACACCACACACACATACACACACA TACAGACACAACCACAC	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN11_chr6_44153820_44189401	44182264	A A	ACACACAC others(288): Show ACACACACACAGACACAACCACACCACACTCACACACACACACATACACA CTCACATACAGACACAACCACACCACACACACACACACATACAGACACAA CCACACCACACACACACACACATACACACTCACATACAGACACAACCACA CCACACACACATACACACTCACATACAGACACAACCACACCACACACACA CACACACACATACACACTCACATACAGACACAACCACACCACACACACAC ACACACACACAGACACAACCACACCACACACACACACATACACACT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	448	0.0022	295	c.193 others(312): Show c.1939-673_1939-672insCACACAGACACAACCACACCACACTCAC ACACACACACATACACACTCACATACAGACACAACCACACCACACACACA CACACATACAGACACAACCACACCACACACACACACACATACACACTCAC ATACAGACACAACCACACCACACACACATACACACTCACATACAGACACA ACCACACCACACACACACACACACACATACACACTCACATACAGACACAA CCACACCACACACACACACACACACACAGACACAACCACACCACACACAC ACACATACACACTCACA	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar

Search by Variant

Search

Search Results