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
ANKRD11_chr16_89262630_89495561	89400640	T T	TGGTCATC others(221): Show TGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGGGGGCCGGTCATCTGCT GCCCCAGGCTTCCCTGCGCTGGGGGCCGGTCATCTGCTGCCCCAGGCTTC CCTGCGCTGGGGGCCGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGGGG GCCGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGGGGGCCGGTCATCTG CTGCCCCAGGCTTCCCTGCGCTGGGGGAC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02135.hp2 HG03927.hp1 others(1): Show HG00621.hp1 HG02135.hp2 HG03927.hp1 NA18995.hp1	a0002 a0026 a0002 a0026	a0002c0002 a0026c0042 a0002c0002 a0026c0042	a0002c0002t0002 a0002c0002t0009 a0026c0042t0002 a0002c0002t0002 a0002c0002t0009 a0026c0042t0002	a0002c0002t0002g0110 a0002c0002t0002g0295 a0002c0002t0009g0114 others(1): Show a0002c0002t0002g0110 a0002c0002t0002g0295 a0002c0002t0009g0114 a0026c0042t0002g0111	4	310	0.0129	228	c.-60 others(247): Show c.-60+17643_-60+17644insGTCCCCCAGCGCAGGGAAGCCTGGGG CAGCAGATGACCGGCCCCCAGCGCAGGGAAGCCTGGGGCAGCAGATGACC GGCCCCCAGCGCAGGGAAGCCTGGGGCAGCAGATGACCGGCCCCCAGCGC AGGGAAGCCTGGGGCAGCAGATGACCGGCCCCCAGCGCAGGGAAGCCTGG GGCAGCAGATGACCGGCCCCCAGCGCAGGGAAGCCTGGGGCAGCAGATGA CC	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	2/12			chr16	TogoVar
ANO3_chr11_26327130_26668289	26529198	T T	TATATATT others(221): Show TATATATTATTAATAATATATATTATATATAATTATATAATATATATTAT ATTATATATTATATATTATATAATATATTATATATTATATATATTATATA TTATATAATATATATTATATAATATATAATATATATAATATATATTATAT AATTATATAATATATATTATATATATTATATATTATATATATTATATATT ATATAATATATATTATATAATATATAATA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0021 a0001c0003t0021	a0001c0003t0021g0007 a0001c0003t0021g0007	1	190	0.0053	228	c.738 others(245): Show c.738-2007_738-2006insATATATTATTAATAATATATATTATATA TAATTATATAATATATATTATATTATATATTATATATTATATAATATATT ATATATTATATATATTATATATTATATAATATATATTATATAATATATAA TATATATAATATATATTATATAATTATATAATATATATTATATATATTAT ATATTATATATATTATATATTATATAATATATATTATATAATATATAATA	ANO3	ENSG00000134343.14	transcript	ENST00000256737.8	protein_coding	7/26			chr11	TogoVar
ARHGAP45_chr19_1062167_1091628	1063162	G G	GCTCCACC others(221): Show GCTCCACCCACACCATGGCCCCGCCCCATACTCATGCTGGCTCCACCAGT GTGGCCCCGCCCCATACTCATGCTGTCTCCACCCACACCATGGCCCCGCC CCATACTCATGCTGGCTCCACCCACACTATGGCCCTGCCCCATACTCATG CTGGCTCCACCCACACCATGGCCCCGCCCCATACTCATGCTGGCTCCACC AGTGTGGCCCCGCCCCATACTCATGCTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00741.hp1 HG01099.hp2 others(24): Show HG00099.hp1 HG00741.hp1 HG01099.hp2 HG01361.hp2 HG01516.hp1 HG02027.hp1 HG02293.hp2 HG02683.hp2 HG02698.hp2 HG02735.hp1 HG02738.hp2 HG02818.hp2 HG03239.hp2 HG03490.hp1 HG03492.hp1 HG03831.hp2 HG04115.hp1 NA18945.hp2 NA18955.hp2 NA18964.hp1 NA18977.hp1 NA18979.hp1 NA18994.hp2 NA19060.hp1 NA19081.hp2 NA19087.hp2 NA20905.hp1	a0002 a0003 a0018 a0002 a0003 a0018	a0002c0001 a0003c0003 a0003c0009 others(3): Show a0002c0001 a0003c0003 a0003c0009 a0003c0041 a0003c0044 a0018c0055	a0002c0001t0004 a0002c0001t0005 a0002c0001t0016 others(6): Show a0002c0001t0004 a0002c0001t0005 a0002c0001t0016 a0002c0001t0025 a0003c0003t0001 a0003c0009t0001 a0003c0041t0001 a0003c0044t0001 a0018c0055t0006	a0002c0001t0004g0145 a0002c0001t0004g0166 a0002c0001t0005g0047 others(21): Show a0002c0001t0004g0145 a0002c0001t0004g0166 a0002c0001t0005g0047 a0002c0001t0005g0285 a0002c0001t0005g0286 a0002c0001t0005g0287 a0002c0001t0005g0288 a0002c0001t0016g0049 a0002c0001t0025g0049 a0003c0003t0001g0001 a0003c0003t0001g0012 a0003c0003t0001g0051 a0003c0003t0001g0069 a0003c0003t0001g0290 a0003c0003t0001g0291 a0003c0003t0001g0292 a0003c0003t0001g0293 a0003c0003t0001g0302 a0003c0009t0001g0048 a0003c0009t0001g0050 a0003c0009t0001g0295 a0003c0041t0001g0298 a0003c0044t0001g0051 a0018c0055t0006g0301	27	418	0.0646	228	c.-42 others(239): Show c.-4244_-4243insCTCCACCCACACCATGGCCCCGCCCCATACTCAT GCTGGCTCCACCAGTGTGGCCCCGCCCCATACTCATGCTGTCTCCACCCA CACCATGGCCCCGCCCCATACTCATGCTGGCTCCACCCACACTATGGCCC TGCCCCATACTCATGCTGGCTCCACCCACACCATGGCCCCGCCCCATACT CATGCTGGCTCCACCAGTGTGGCCCCGCCCCATACTCATGCTGT	ARHGAP45	ENSG00000180448.11	transcript	ENST00000313093.7	protein_coding		4004		chr19	TogoVar
ARL10_chr5_176360487_176386909	176371498	G G	GCCTGATA others(221): Show GCCTGATATTCCCGGGGATAGCCTAAGAACAGTGTGTTTCCTGATATTCC CGGGGATAGCCTAAGAACAGTGTGTTTCCTGATATTCCCGGGGATAGCCT AAGAACAGTGTGTTTCCTGATATTCCCGGGGATAGCCTAAGAACAGTGTG TTTCCTGATATTCCCGGGGATAGCCTAAGAACAGTGTGTTTCCTGATATT CCCGGGGATAGCCTAAGAACAGTGTGTTT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0204 a0001c0002t0204	a0001c0002t0204g0103 a0001c0002t0204g0103	1	418	0.0024	228	c.562 others(241): Show c.562-71_562-70insCTGATATTCCCGGGGATAGCCTAAGAACAGTG TGTTTCCTGATATTCCCGGGGATAGCCTAAGAACAGTGTGTTTCCTGATA TTCCCGGGGATAGCCTAAGAACAGTGTGTTTCCTGATATTCCCGGGGATA GCCTAAGAACAGTGTGTTTCCTGATATTCCCGGGGATAGCCTAAGAACAG TGTGTTTCCTGATATTCCCGGGGATAGCCTAAGAACAGTGTGTTTC	ARL10	ENSG00000175414.7	transcript	ENST00000310389.6	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
ARL13B_chr3_93975155_94060678	94043545	C C	CCTCCCCC others(221): Show CCTCCCCCTCCCCCTCCCCCCTCCTCCCCCTTCCCCTCCCTCCCCCTTCC CCTCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCCTTCCCC TCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCCCC CTCCCCCTCGCCCTCCCCCCCCCCCTCCCCCTCCCCCTCCCCCTCCCCCC TCCCCCTCCCTCCCCCTCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0235	1	264	0.0038	228	c.102 others(245): Show c.1024+318_1024+319insTCCCCCCTCCTCCCCCTTCCCCTCCCTC CCCCTTCCCCTCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCCTCCCTCCC CCTTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCC CTCTCCCCCTCCCCCTCGCCCTCCCCCCCCCCCTCCCCCTCCCCCTCCCC CTCCCCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCCTCTCCCCCTCCCCC	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
ASAP1_chr8_130047104_130448674	130049578	G G	GGGGGGCA others(221): Show GGGGGGCAGAGGAGAACACATGGGGGGCAGAGGAGAACACATGGGGGCAG AGGGGGAACACATGGGGGCAGAGGAGAATACATGGAGGGCAGAGGAGAAC ACATGGGGGGCAGAGGAGAACACATGGGGGGCAGAGGGGAATACATGGGG GGCAGAGGAGAACACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGG GGAACACATGGGGGCAGAGGAGAATACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0008 a0001c0001t0009g0008	1	308	0.0033	228	c.51 others(239): Show c.5152_*5153insATGTATTCTCCTCTGCCCCCATGTGTTCCCCCTC TGCCCCCATGTGTTCTCCTCTGCCCCCCATGTGTTCTCCTCTGCCCCCCA TGTATTCCCCTCTGCCCCCCATGTGTTCTCCTCTGCCCCCCATGTGTTCT CCTCTGCCCTCCATGTATTCTCCTCTGCCCCCATGTGTTCCCCCTCTGCC CCCATGTGTTCTCCTCTGCCCCCCATGTGTTCTCCTCTGCCCCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2525		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049877	G G	GGGGAACA others(221): Show GGGGAACACATGGGGGCAGAGGGGAACACATGGGGGGCAGAGGAGAACAC ATGGGGGCAGAGGGGGAACACATGGGGGGCAGAGGGGGAACACATGGGGG CAGAGGGGAACACATGGAGGGCAGAGGGGAACACATGGGGGGCAGAGGAG AACACATGGGGGCAGAGGGGGAACACATGGGGGCAGAGGGGAACACATGG AGGGCAGAGGGGAACACATGGAGGGCAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0178 a0001c0001t0002g0178	1	308	0.0033	228	c.48 others(239): Show c.4853_*4854insTCTGCCCTCCATGTGTTCCCCTCTGCCCTCCATG TGTTCCCCTCTGCCCCCATGTGTTCCCCCTCTGCCCCCATGTGTTCTCCT CTGCCCCCCATGTGTTCCCCTCTGCCCTCCATGTGTTCCCCTCTGCCCCC ATGTGTTCCCCCTCTGCCCCCCATGTGTTCCCCCTCTGCCCCCATGTGTT CTCCTCTGCCCCCCATGTGTTCCCCTCTGCCCCCATGTGTTCCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2226		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130050096	G G	GGGGGCAG others(221): Show GGGGGCAGAGGGGGAACACATGGGGGGCAGAGGAGAACACATGGGGGCAG AGGGGGAACACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAAT ACATGGGGGGCAGAGGAGAACACATGGGGGGCAGAGGAGAACACATGGGG GCAGAGGGGGAACACATGGGGGGCAGAGGAGAACACATGGGGGGCAGAGG AGAACACATGGGGGCAGAGGAGAACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	308	0.0033	228	c.46 others(239): Show c.4634_*4635insATGTGTTCTCCTCTGCCCCCATGTGTTCTCCTCT GCCCCCCATGTGTTCTCCTCTGCCCCCCATGTGTTCCCCCTCTGCCCCCA TGTGTTCTCCTCTGCCCCCCATGTGTTCTCCTCTGCCCCCCATGTATTCC CCTCTGCCCCCATGTGTTCTCCTCTGCCCCCCATGTGTTCCCCCTCTGCC CCCATGTGTTCTCCTCTGCCCCCCATGTGTTCCCCCTCTGCCCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2007		chr8	TogoVar
ASCC1_chr10_72091032_72221276	72198299	A A	AGGGAGGG others(221): Show AGGGAGGGGAGGGGAGGGGGAAGGAGATGGGGGAGGGCAGACGGGAGGGG GGACGGGGAGGGAAGGGGGAGGGAAGAGGAGGGGAGGGGGATGGGAGGGG AGGGGGAGGGGAGGGGGAGGAGAGGGGGATGGGAGGGGGACGGGGAGGGG ACGGGGAGGGGAGGGGGAGGGGAGGGGAGATGGGAGGGGAGGGGAGGGTG AGGGGAGGGGAGGGGCGAGGGGAGGAGAG	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	216	0.0046	228	c.311 others(245): Show c.311-1311_311-1310insCTCTCCTCCCCTCGCCCCTCCCCTCCCC TCACCCTCCCCTCCCCTCCCATCTCCCCTCCCCTCCCCCTCCCCTCCCCG TCCCCTCCCCGTCCCCCTCCCATCCCCCTCTCCTCCCCCTCCCCTCCCCC TCCCCTCCCATCCCCCTCCCCTCCTCTTCCCTCCCCCTTCCCTCCCCGTC CCCCCTCCCGTCTGCCCTCCCCCATCTCCTTCCCCCTCCCCTCCCCTCCC	ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding	4/9			chr10	TogoVar
ASGR2_chr17_7096326_7119822	7112076	G G	GGAGGGGA others(221): Show GGAGGGGAGGGGGAGAGGGGAGGGGGGAGAGGGATGGAGGGGGAGGGGCA GGGGAGGGGGAGGAGGGAGAGGGAGGGATGGGGAGGGGAGGGGGAGGAGA GGAGGAAGGGAGAGGGGGAGGGGGAGGGAGAGGGAAGGGGAGGGGGAGGG AGAGGGGGAGGGGAGAGGGAGGGGAGGGAGAGGGAGGGGGAGTGCGAGGG GAGGGGGAGGGGAGAGGGAGGGGGAGGGA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02280.hp1 HG02559.hp2 others(5): Show HG01884.hp2 HG02280.hp1 HG02559.hp2 HG02970.hp1 HG02970.hp2 HG03209.hp1 HG03225.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0158 a0001c0001t0001g0159 others(4): Show a0001c0001t0001g0031 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0266	8	432	0.0185	228	c.124 others(245): Show c.124+2040_124+2041insTCCCTCCCCCTCCCTCTCCCCTCCCCCT CCCCTCGCACTCCCCCTCCCTCTCCCTCCCCTCCCTCTCCCCTCCCCCTC TCCCTCCCCCTCCCCTTCCCTCTCCCTCCCCCTCCCCCTCTCCCTTCCTC CTCTCCTCCCCCTCCCCTCCCCATCCCTCCCTCTCCCTCCTCCCCCTCCC CTGCCCCTCCCCCTCCATCCCTCTCCCCCCTCCCCTCTCCCCCTCCCCTC	ASGR2	ENSG00000161944.17	transcript	ENST00000691900.1	protein_coding	2/8			chr17	TogoVar
ASMTL_chrX_1398139_1457909	1453754	A A	AGTGGAGA others(221): Show AGTGGAGATGGGGGTGTCCACGGGCCTGGTGGGAGGGGCGTGGAGATGGG GGTGTCCACGGGCCTGGTGGGAGGGGCGTGGAGATGGGGGTGTCCACGGG CCTGGTGGGAGGGGCGTGGAGATGGGGGTGTCCACGGGCCTGGTGGGAGG GGCGTGGAGATGGGGGTGTCCACGGGCCTGGTGGGAGGGGCGTGGAGATG GGGGTGTCCACGGGCCTGGTGGGAGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0000 a0000	a0000c0007 a0000c0007	a0000c0007t0001 a0000c0007t0001	a0000c0007t0001g0043 a0000c0007t0001g0043	1	185	0.0054	228	c.-91 others(237): Show c.-915_-914insGCCCCTCCCACCAGGCCCGTGGACACCCCCATCTCC ACGCCCCTCCCACCAGGCCCGTGGACACCCCCATCTCCACGCCCCTCCCA CCAGGCCCGTGGACACCCCCATCTCCACGCCCCTCCCACCAGGCCCGTGG ACACCCCCATCTCCACGCCCCTCCCACCAGGCCCGTGGACACCCCCATCT CCACGCCCCTCCCACCAGGCCCGTGGACACCCCCATCTCCAC	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding		846		chrX	TogoVar
ASMTL_chrX_1398139_1457909	1453792	C C	CGTGGAGA others(221): Show CGTGGAGATGGGGGTGTCCACGGGCCTGGTGGGAGGGGCGTGGAGATGGG GGTGTCCACGGGCCTGGTGGGAGGGGCGTGGAGATGGGGGTGTCCACGGG CCTGGTGGGAGGGGCGTGGAGATGGGGGTGTCCACGGGCCTGGTGGGAGG GGCGTGGAGATGGGGGTGTCCACGGGCCTGGTGGGAGGGGCGTGGAGATG GGGGTGTCCACGGGCCTGGTGGGAGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01069.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0048 a0001c0001t0001g0049	2	185	0.0108	228	c.-95 others(237): Show c.-953_-952insTCCCCTCCCACCAGGCCCGTGGACACCCCCATCTCC ACGCCCCTCCCACCAGGCCCGTGGACACCCCCATCTCCACGCCCCTCCCA CCAGGCCCGTGGACACCCCCATCTCCACGCCCCTCCCACCAGGCCCGTGG ACACCCCCATCTCCACGCCCCTCCCACCAGGCCCGTGGACACCCCCATCT CCACGCCCCTCCCACCAGGCCCGTGGACACCCCCATCTCCAC	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding		884		chrX	TogoVar
ASPRV1_chr2_69955089_69966631	69956451	G G	GGAAGAAG others(221): Show GGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	464	0.0022	228	c.42 others(239): Show c.4205_*4206insTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	ASPRV1	ENSG00000244617.3	transcript	ENST00000320256.6	protein_coding		3637		chr2	TogoVar
ATF1_chr12_50759101_50826162	50823525	A A	ATATTATA others(221): Show ATATTATATATATAATCTATATTATATATAATATATATATATAATATATA TATATAATATATATAATATAATATATAATCTATATTATATAATCTATATT ATATATAATATAGATTATATATATAATCTATATTATATAATCTATATTAT ATATAATATAGATTATATATATAATCTATATTATATAATCTATATTATAT ATAATATAGATTATATATATAATCTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0306 a0001c0002t0006g0306	1	382	0.0026	228	c.37 others(239): Show c.3746_*3747insTATTATATATATAATCTATATTATATATAATATA TATATATAATATATATATATAATATATATAATATAATATATAATCTATAT TATATAATCTATATTATATATAATATAGATTATATATATAATCTATATTA TATAATCTATATTATATATAATATAGATTATATATATAATCTATATTATA TAATCTATATTATATATAATATAGATTATATATATAATCTATAT	ATF1	ENSG00000123268.9	transcript	ENST00000262053.8	protein_coding		2364		chr12	TogoVar
ATP10B_chr5_160558120_160857211	160653838	A A	AAATATAT others(221): Show AAATATATGTTGTATATACGTATATACTATATATGTTGTATATACGTATA TACAACATAAATATATGTTGTATATACGTATATACAACATAAATATATGT TGTATATACGTATATACAACATAAATATATGTTGTATATACGTATATACA TATATAAATATATGTTGTATATACGTATATACATATATAAATATATGTTG TATATACGTATATACAACATAAATATATG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01346.hp2 HG04115.hp2 others(2): Show HG00323.hp1 HG01346.hp2 HG04115.hp2 NA20129.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0009 a0001c0002t0010 a0001c0001t0009 a0001c0002t0010	a0001c0001t0009g0040 a0001c0002t0010g0008 a0001c0002t0010g0108 others(2): Show a0001c0001t0009g0040 a0001c0002t0010g0008 a0001c0002t0010g0108 a0001c0002t0010g0111 a0001c0002t0010g0152	5	236	0.0212	228	c.676 others(245): Show c.676-4583_676-4582insCATATATTTATGTTGTATATACGTATAT ACAACATATATTTATATATGTATATACGTATATACAACATATATTTATAT ATGTATATACGTATATACAACATATATTTATGTTGTATATACGTATATAC AACATATATTTATGTTGTATATACGTATATACAACATATATTTATGTTGT ATATACGTATATACAACATATATAGTATATACGTATATACAACATATATT	ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	7/25			chr5	TogoVar
ATP10B_chr5_160558120_160857211	160653838	A A	AAATATAT others(221): Show AAATATATGTTGTATATACGTATATACTATATATGTTGTATATACGTATA TACAACATAAATATATGTTGTATATACGTATATACATATATAAATATATG TTGTATATACGTATATACATATATAAATATATGTTGTATATACGTATATA CAACATAAATATATGTTGTATATACGTATATACAACATAAATATATGTTG TATATACGTATATACAACATAAATATATG	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0193 a0001c0001t0002g0193	1	236	0.0042	228	c.676 others(245): Show c.676-4583_676-4582insCATATATTTATGTTGTATATACGTATAT ACAACATATATTTATGTTGTATATACGTATATACAACATATATTTATGTT GTATATACGTATATACAACATATATTTATATATGTATATACGTATATACA ACATATATTTATATATGTATATACGTATATACAACATATATTTATGTTGT ATATACGTATATACAACATATATAGTATATACGTATATACAACATATATT	ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	7/25			chr5	TogoVar
ATP6V0A4_chr7_138701294_138803196	138707189	A A	ATATTATA others(221): Show ATATTATATATAATATTATATATAATATATATATATTATATAATATAATA TATTATATATAATATATTATATTATATATAATATTATATATAATATAATA TATATTATATAATATAATATATTATATATAATATTATATAATATAATATA TTATATATAATATAATATATTATATATAATATATTATATATTATATTATA TATAATATATTATATTATATAGAATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0002 a0001c0010t0002	a0001c0010t0002g0035 a0001c0010t0002g0035	1	376	0.0027	228	c.243 others(245): Show c.2430-473_2430-472insATATATTCTATATAATATAATATATTAT ATATAATATAATATATAATATATTATATATAATATATTATATTATATATA ATATATTATATTATATAATATTATATATAATATATTATATTATATAATAT ATATTATATTATATATAATATTATATATAATATAATATATTATATATAAT ATATTATATTATATAATATATATATATTATATATAATATTATATATAATA	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	21/21			chr7	TogoVar
B3GNTL1_chr17_82937149_83056770	83025157	A A	AGACACCG others(221): Show AGACACCGCGGAGTCCACACACGGACACTGCGGAGAGTCCACACACACAT AGAAACTGTGAAGTCCACACACACACGGACACCGCGGAGTCCACACACGG ACACCGCGGAGAGTCCACACACACATAGAAACTGTGAAGTCCACACACAC ACGGACACCGCGGAGTCCACACACGGACACCGCGGAGAGTCCACACACAC ATAGAAACTGTGAAGTCCACACACACACG	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0015 a0001c0003t0015	a0001c0003t0015g0221 a0001c0003t0015g0221	1	266	0.0038	228	c.297 others(245): Show c.297+9877_297+9878insCGTGTGTGTGTGGACTTCACAGTTTCTA TGTGTGTGTGGACTCTCCGCGGTGTCCGTGTGTGGACTCCGCGGTGTCCG TGTGTGTGTGGACTTCACAGTTTCTATGTGTGTGTGGACTCTCCGCGGTG TCCGTGTGTGGACTCCGCGGTGTCCGTGTGTGTGTGGACTTCACAGTTTC TATGTGTGTGTGGACTCTCCGCAGTGTCCGTGTGTGGACTCCGCGGTGTC	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	4/12			chr17	TogoVar
BAHCC1_chr17_81390457_81471331	81426371	G G	GGTGGGTG others(221): Show GGTGGGTGATGTGGTTGGGGGTGATAGTGGTGGGTGATGTGGTTGGTGGT GATGTGGTTGGTGGTGATAGTGGTGGGTGATGTGGTTGGTGGTGATGTGG TTGGTGGTGATAGTGGTGGGTGATGTGGTTGGGGGTGATAGTGGTGGGTG ATGTGGTTGGTGGTGATGTGGTTGGTGATGATGTGGTTGGTGGTGATAGT GGTGGGTGATGTGGTTGGTGGTGATAGTC	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0002 a0002	a0002c0044 a0002c0044	a0002c0044t0001 a0002c0044t0001	a0002c0044t0001g0164 a0002c0044t0001g0164	1	332	0.0030	228	c.179 others(243): Show c.179-412_179-411insGGGTGATAGTGGTGGGTGATGTGGTTGGTG GTGATGTGGTTGGTGGTGATAGTGGTGGGTGATGTGGTTGGTGGTGATGT GGTTGGTGGTGATAGTGGTGGGTGATGTGGTTGGGGGTGATAGTGGTGGG TGATGTGGTTGGTGGTGATGTGGTTGGTGATGATGTGGTTGGTGGTGATA GTGGTGGGTGATGTGGTTGGTGGTGATAGTCGTGGGTGATGTGGTTGG	BAHCC1	ENSG00000266074.11	transcript	ENST00000675386.2	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GAGGGGGG others(221): Show GAGGGGGGAGGGGGAGGGAGGGGGAGGGGGGAGGGGGAGGGGGAAGGAGA GGGGGGGATGGGGATGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGG GAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGAGGGGGGAGGGGAGGGGG AGAGGGGGGAGGGAGAGGGGGAGGGAGATGGACTGGGGAGGAGGGGGATG GACTGGGGAGGAGGGGGATGGACTGGGGA	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0055 a0001c0001t0002g0055	1	298	0.0034	228	c.51+ others(241): Show c.51+438_51+439insTCCCCAGTCCATCCCCCTCCTCCCCAGTCCAT CCCCCTCCTCCCCAGTCCATCTCCCTCCCCCTCTCCCTCCCCCCTCTCCC CCTCCCCTCCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCC CTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCATCCCCATCCCCCCCTCT CCTTCCCCCTCCCCCTCCCCCCTCCCCCTCCCTCCCCCTCCCCCCT	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GGGAGGGA others(221): Show GGGAGGGAGAGGGGGGAGGAGGGAGGGAGAGGGGGGAGGGGGGAGGGGGA GGGAGGGAGAGGGGGGAGGGGGGAGGGGGAGGGGGAGGGAGAGGGGGGAT GGGGATGGGGGAGGGGAGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGG GAGAGGGGGGAGGGGAGGGGGAGGGAGATGGACTGGGGAGGAGGGGGATG GACTGGGGAGGAGGTGGATGGACTGGGGA	intron_variant intron_variant	MODIFIER	HG02074.hp2 NA19056.hp1 HG02074.hp2 NA19056.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0288 a0001c0003t0003g0289 a0001c0003t0003g0288 a0001c0003t0003g0289	2	298	0.0067	228	c.51+ others(241): Show c.51+438_51+439insTCCCCAGTCCATCCACCTCCTCCCCAGTCCAT CCCCCTCCTCCCCAGTCCATCTCCCTCCCCCTCCCCTCCCCCCTCTCCCC CTCCCCCTCCCCCTCCCCCCTCCCCCTCCCTCCCCTCCCCCATCCCCATC CCCCCTCTCCCTCCCCCTCCCCCTCCCCCCTCCCCCCTCTCCCTCCCTCC CCCTCCCCCCTCCCCCCTCTCCCTCCCTCCTCCCCCCTCTCCCTCC	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GGGAGGGA others(221): Show GGGAGGGAGAGGGGGGAGGGGGGGGAGGGGGAGGGAGGGGGAGGGGGGAG GGGGAGGGGGAAGGAGAGGGGGGATGGGGAGGGGGGAGGGGGAGGGGGAG GGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGAGAGGGGGAGGGGAGGGGG AGAGGGGGGAGGGAGAGGGGGAGGGAGATGGACTGGGGAGGAGGGGGATG GACTGGGGAGGAGGGGGATGGACTGGGGA	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0063 a0001c0001t0002g0063	1	298	0.0034	228	c.51+ others(241): Show c.51+438_51+439insTCCCCAGTCCATCCCCCTCCTCCCCAGTCCAT CCCCCTCCTCCCCAGTCCATCTCCCTCCCCCTCTCCCTCCCCCCTCTCCC CCTCCCCTCCCCCTCTCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTC CCCCTCCCCCTCCCCCCTCCCCATCCCCCCTCTCCTTCCCCCTCCCCCTC CCCCCTCCCCCTCCCTCCCCCTCCCCCCCCTCCCCCCTCTCCCTCC	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BAIAP2L2_chr22_38079900_38115684	38110135	G G	GAGAGAGA others(221): Show GAGAGAGAGGGAGAGAGAGAGAGAGAGAGGGATAGAGAGAGAGAGAGAGA GAGGGAGAGGGGAGAGAGGGAGAGAGAGAGAGAGAGGGAGAAGAGAGAGA GAGGGAGAGAGAGACAGAGAGAGAGAGAGGGAGAGAGAGAGAGAGAGGGA GAGGGAGAGAGAGAGAGAGAGGGAGAGGGAGAGAGAGAGAGGAGAGGAGA GAGAGAGAGAGAGACAGGGAGAGAGAGAC	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0017 a0003c0003t0002g0017	1	18	0.0556	228	c.51+ others(241): Show c.51+339_51+340insGTCTCTCTCTCCCTGTCTCTCTCTCTCTCTCT CCTCTCCTCTCTCTCTCTCCCTCTCCCTCTCTCTCTCTCTCTCCCTCTCC CTCTCTCTCTCTCTCTCCCTCTCTCTCTCTCTGTCTCTCTCTCCCTCTCT CTCTCTTCTCCCTCTCTCTCTCTCTCTCCCTCTCTCCCCTCTCCCTCTCT CTCTCTCTCTCTCTATCCCTCTCTCTCTCTCTCTCTCCCTCTCTCT	BAIAP2L2	ENSG00000128298.18	transcript	ENST00000381669.8	protein_coding	1/13			chr22	TogoVar
BBS1_chr11_66505635_66538598	66512073	T T	TGTATATA others(221): Show TGTATATATGTGTATATATGTATATATATGTATATATATATGTATATATA TGTATATATATGTGTATATATATGTATATATGTATATATGTGTGTATATA TATGTATATATATGTGTATATATATGTATATATATGTATATATGTGTGTA TATATATGTATATATATGTATATATGTGTGTATATATGTATATATATGTA TATATGTGTGTATATATATGTATATATAC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG03098.hp2 HG01109.hp1 HG03098.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0003 a0002c0005t0003	a0002c0005t0003g0047 a0002c0005t0003g0048 a0002c0005t0003g0047 a0002c0005t0003g0048	2	386	0.0052	228	c.159 others(243): Show c.159+834_159+835insGTATATATGTGTATATATGTATATATATGT ATATATATATGTATATATATGTATATATATGTGTATATATATGTATATAT GTATATATGTGTGTATATATATGTATATATATGTGTATATATATGTATAT ATATGTATATATGTGTGTATATATATGTATATATATGTATATATGTGTGT ATATATGTATATATATGTATATATGTGTGTATATATATGTATATATAC	BBS1	ENSG00000174483.20	transcript	ENST00000318312.12	protein_coding	3/16			chr11	TogoVar
BOC_chr3_113206557_113292459	113236266	G G	GTGTGTGT others(221): Show GTGTGTGTGTATATATACCCATGGGTATATATATATATATATATATGTAT ATATACCCATGGGTATATATATATATATATATATGTATATATACCCATGG GTATATATATATATATATATATGTATATATACCCATGGGTATATATATAT ATATATATATATATATACCCATGGGTATATATATATATATATATATATAT ATATACCCATGGGTATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0025 a0001c0005t0025	a0001c0005t0025g0367 a0001c0005t0025g0367	1	386	0.0026	228	c.-81 others(247): Show c.-81-13455_-81-13454insGTGTGTGTATATATACCCATGGGTAT ATATATATATATATATATGTATATATACCCATGGGTATATATATATATAT ATATATGTATATATACCCATGGGTATATATATATATATATATATGTATAT ATACCCATGGGTATATATATATATATATATATATATATACCCATGGGTAT ATATATATATATATATATATATATATACCCATGGGTATATATATATATAT AT	BOC	ENSG00000144857.15	transcript	ENST00000682979.1	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr3	TogoVar
BOK_chr2_241553745_241579131	241570995	G G	GGGGGGGT others(221): Show GGGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTACGGGAGGGAGT GGTGGATGGGTGAGCCTCTGAGCGCCTGGGGGGTGGGAGAGCTGGGGTGC GAGGGTGCAGACGTACGGGAGGGAATGGCGGGTGGGTGAGCCTCTGAGCG CCTGGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTACGGGAGGGA GTGGCGGATGGGTGAGCCTCTGAGCGCCT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0243 a0001c0001t0006g0243	1	434	0.0023	228	c.513 others(243): Show c.513+707_513+708insGGGGGGTGGGAGAGCTGGGGTGCGAGGGTG CAGAGGTACGGGAGGGAGTGGTGGATGGGTGAGCCTCTGAGCGCCTGGGG GGTGGGAGAGCTGGGGTGCGAGGGTGCAGACGTACGGGAGGGAATGGCGG GTGGGTGAGCCTCTGAGCGCCTGGGGGGTGGGAGAGCTGGGGTGCGAGGG TGCAGAGGTACGGGAGGGAGTGGCGGATGGGTGAGCCTCTGAGCGCCT	BOK	ENSG00000176720.6	transcript	ENST00000318407.5	protein_coding	4/4			chr2	TogoVar
BOK_chr2_241553745_241579131	241570995	G G	GGGGGGTG others(221): Show GGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTACGGGAGGGAGTG GTGGATGGGTGAGCCTCTGAGCGCCTGGGGGGGTGGGAGAGCTGGGGTGC GAGGGTGCAGACGTACGGGAGGGAATGGCGGGTGGGTGAGCCTCTGAGCG CCTGGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTACGGGAGGGA GTGGCGGATGGGTGAGCCTCTGAGCGCCT	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0216 a0001c0001t0006g0216	1	434	0.0023	228	c.513 others(243): Show c.513+707_513+708insGGGGGTGGGAGAGCTGGGGTGCGAGGGTGC AGAGGTACGGGAGGGAGTGGTGGATGGGTGAGCCTCTGAGCGCCTGGGGG GGTGGGAGAGCTGGGGTGCGAGGGTGCAGACGTACGGGAGGGAATGGCGG GTGGGTGAGCCTCTGAGCGCCTGGGGGGTGGGAGAGCTGGGGTGCGAGGG TGCAGAGGTACGGGAGGGAGTGGCGGATGGGTGAGCCTCTGAGCGCCT	BOK	ENSG00000176720.6	transcript	ENST00000318407.5	protein_coding	4/4			chr2	TogoVar
BOP1_chr8_144257045_144296438	144262844	A A	ACCCCTCA others(221): Show ACCCCTCACCTGCAGGGTGCACCGCCCCCCCCCACCCCTCACCTGCAGGG TACACCGCCCCCCCCCACCCCTCACCTGCAGGGTGCACCGCCCCCCCCAC CCCTCACCTGCAGGGTGCACTGCCCCTACCCCCACCCCTCACCTGCAGGG TACACCGCCCCCCCCCACCCCTCACCTGCAGGGTACACCGCCCCCCCCCC ACCCCTCACCTGCAGGGTGCACTGCCCCC	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0375 a0001c0008t0001g0375	1	398	0.0025	228	c.189 others(241): Show c.1894+8_1894+9insGGGGGCAGTGCACCCTGCAGGTGAGGGGTGGG GGGGGGGCGGTGTACCCTGCAGGTGAGGGGTGGGGGGGGGCGGTGTACCC TGCAGGTGAGGGGTGGGGGTAGGGGCAGTGCACCCTGCAGGTGAGGGGTG GGGGGGGCGGTGCACCCTGCAGGTGAGGGGTGGGGGGGGGCGGTGTACCC TGCAGGTGAGGGGTGGGGGGGGGCGGTGCACCCTGCAGGTGAGGGG	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	13/15			chr8	TogoVar
BRSK2_chr11_1384934_1467689	1441505	A A	ACCCCATT others(221): Show ACCCCATTAGCTACCCCTCAAGTGCACCGTCCCCCCATTAGCTACCCCTC AAGTGCACCATCCCCCTCATTAGCTACCCCTCAGGTGCATCATCCCCTCC TCATTAGCTGCCCCTCAAGTGCACCATCCCCCCCATTAGCTGCCCCTCAA GTGCACTGTCCCCCCATAGTGGCCCCTCAGGTGCACCGTCCCCCCCATTA GCTACTCCTCAAGTGCACCATCCCCTCCC	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0292 a0001c0001t0024g0292	1	360	0.0028	228	c.413 others(243): Show c.413+608_413+609insCCCCATTAGCTACCCCTCAAGTGCACCATC CCCCTCATTAGCTACCCCTCAGGTGCATCATCCCCTCCTCATTAGCTGCC CCTCAAGTGCACCATCCCCCCCATTAGCTGCCCCTCAAGTGCACTGTCCC CCCATAGTGGCCCCTCAGGTGCACCGTCCCCCCCATTAGCTACTCCTCAA GTGCACCATCCCCTCCCCCCCATTAGCTACCCCTCAAGTGCACCGTCC	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BTAF1_chr10_91918770_92036437	92012179	C C	CCCTCTCC others(221): Show CCCTCTCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCTCCTCT CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTC CCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCC TCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCT CCTCCCCTCCCCTCCTCCCCTCCCCTCCT	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0008 a0008	a0008c0007 a0008c0007	a0008c0007t0002 a0008c0007t0002	a0008c0007t0002g0288 a0008c0007t0002g0288	1	330	0.0030	228	c.431 others(245): Show c.4311+766_4311+767insTCTCCTCCTCCCCTCCCCTCCCCTCCTC CCCTCCCCTCCTCTCCTCTCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCT CCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTC CTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCC TCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCC	BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding	30/37		INFO_REALIGN_3_PRIME	chr10	TogoVar
BTAF1_chr10_91918770_92036437	92012179	C C	CCCTCTCC others(221): Show CCCTCTCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCTCCTCT CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTC CCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCC TCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCT CCTCCCCTCCCCTCCTCCCCTCCCCTCCT	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0300 a0001c0001t0002g0300	1	330	0.0030	228	c.431 others(245): Show c.4311+766_4311+767insTCTCCTCCTCCCCTCCCCTCCCCTCCTC CCCTCCCCTCCTCTCCTCTCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCT CCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTC CTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCC TCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCC	BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding	30/37		INFO_REALIGN_3_PRIME	chr10	TogoVar
BTAF1_chr10_91918770_92036437	92012181	C C	CTCTCCTC others(221): Show CTCTCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCTCCTCTCC TCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCTCCTCCCCTCCC CTCCTCCCCTCCCCTCCTTCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTC CCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCC TCCCCTCCCCTCCTCCCCTCCCCTCCCCT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0170 a0001c0001t0002g0170	1	330	0.0030	228	c.431 others(245): Show c.4311+766_4311+767insTCTCCTCCTCCCCTCCCCTCCCCTCCTC CCCTCCCCTCCTCTCCTCTCCTCCCCTCCCCTCCCCTCCCCTCCCCCCCT CCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTTCCCTCCCCTC CTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCC TCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCT	BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding	30/37			chr10	TogoVar
C17orf67_chr17_56786913_56838920	56792876	G G	GTGGTGAT others(221): Show GTGGTGATGGTGATGATGGTGATGGTGGTGGTGATGGTGATGATGGTGGT GATGGTGGTGGTGATGGTGGTGATGGTGGTGGTGATGATGGTGGTGATGG TGATGATGGTGGTGATGGTGGTGGTGGTGATGGTGATGATGGTGGTGATG GTAGTGGTGATGGTGATGATGGTGGTGATGGTGATGATGGTGGTGATGGT GGTGATGGTGATGGTGGTGGTGGTGGTGA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02886.hp1 HG01891.hp2 HG02886.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0122 a0002c0002t0002g0123 a0002c0002t0002g0122 a0002c0002t0002g0123	2	292	0.0069	228	c.21 others(243): Show c.21-525_*21-524insTCACCACCACCACCACCATCACCATCACCA CCATCACCACCATCATCACCATCACCACCATCATCACCATCACCACTACC ATCACCACCATCATCACCATCACCACCACCACCATCACCACCATCATCAC CATCACCACCATCATCACCACCACCATCACCACCATCACCACCACCATCA CCACCATCATCACCATCACCACCACCATCACCATCATCACCATCACCA	C17orf67	ENSG00000214226.9	transcript	ENST00000397861.7	protein_coding	7/7			chr17	TogoVar
C2orf16_chr2_27532386_27587722	27557925	A A	ACCTCCCT others(221): Show ACCTCCCTCCCGGATGGGGCGGCTGGCCAGGTGGGAGGATGACCCCCCCA CCTCCCTCCCGGGCGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGC TGGCCAGGCGGGAGGCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGACCCCCCCCCCCCCCCCCCCCCCG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0008 a0008	a0008c0022 a0008c0022	a0008c0022t0001 a0008c0022t0001	a0008c0022t0001g0316 a0008c0022t0001g0316	1	326	0.0031	228	c.145 others(245): Show c.145-7382_145-7381insTGGGAGGATGACCCCCCCACCTCCCTCC CGGGCGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGGCCAGGC GGGAGGCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGACCC CCCCCCCCCCCCCCCCCCCGCCTCCCTCCCGGATGGGGCGGCTGGCCAGG	C2orf16	ENSG00000221843.6	transcript	ENST00000447166.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
C2orf80_chr2_208160347_208195030	208176905	C C	CTGTATAC others(221): Show CTGTATACATATCTGTATATACATATCTGTATACATATCTGTATATACAT ATCTGTATACATATGTATATACATATCTGTATACATATGTATACATATCT GTATACATATGTATATACATATCTGTATACATATGTATATACATATCTGT ATACATATGTATACATATCTGTATACATATGTGTATACATATCTGTATAC ATATGTGTATACATATCTGTATATACATA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0314 a0001c0001t0002g0314	1	342	0.0029	228	c.366 others(245): Show c.366+3839_366+3840insTATGTATATACAGATATGTATACACATA TGTATACAGATATGTATACACATATGTATACAGATATGTATACATATGTA TACAGATATGTATATACATATGTATACAGATATGTATATACATATGTATA CAGATATGTATACATATGTATACAGATATGTATATACATATGTATACAGA TATGTATATACAGATATGTATACAGATATGTATATACAGATATGTATACA	C2orf80	ENSG00000188674.11	transcript	ENST00000341287.9	protein_coding	6/8			chr2	TogoVar
CALN1_chr7_71774491_72417338	72209190	T T	TTCCTTCC others(221): Show TTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCTTTCCTTCCCTCCTTCCCT CTTTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCTTTCCTTCCCTCCTTCC TTCCCTCTTTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCTTTCCTTCCCT CCTTCCCTCTTTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCT TTCCTTCCCTCCTTCCTTCCCTCCTTCCC	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0002 a0001c0001t0023g0002	1	142	0.0070	228	c.244 others(247): Show c.244+69495_244+69496insGGGAAGGAGGGAAGGAAGGAGGGAAG GAAAGAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAAAGAGGGA AGGAGGGAAGGAAAGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAAAGAGG GAAGGAAGGAGGGAAGGAAAGAGGGAAGGAAGGAGGGAAGGAGGGAAGGA AAGAGGGAAGGAGGGAAGGAAAGAGGGAAGGAAAGAGGGAAGGAGGGAAG GA	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CAMK1D_chr10_12344547_12840545	12776122	A A	AGACTGTG others(221): Show AGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTC AGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGA GACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCA GGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAG ACTGTGAGAAGGCTCAGGCATTGATCAGC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0107 a0001c0001t0013g0107	1	214	0.0047	228	c.565 others(245): Show c.565+6323_565+6324insGACTGTGAGAAGGCTCAGGCATTGATCA GGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAG GCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAG GTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGG CTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGC	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	5/10			chr10	TogoVar
CAMSAP2_chr1_200733893_200865704	200817181	C C	CACACATA others(221): Show CACACATATAAGTGTGTGTATATACACACACATATAAGTGTGTGTATACA CACATACACACATGTGTGTGTGTATACACACATACACACATGTGTGTGTG TATACACACATACACACATGTGTGTGTGTATACACACATACACACACATG TGTGTGTATATACACACATACACACACATGTGTGTGTATATACACACATA CACACACATGTGTGTGTATATACACACAT	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0008 a0003c0004t0008	a0003c0004t0008g0191 a0003c0004t0008g0191	1	366	0.0027	228	c.645 others(245): Show c.645+1542_645+1543insTATAAGTGTGTGTATATACACACACATA TAAGTGTGTGTATACACACATACACACATGTGTGTGTGTATACACACATA CACACATGTGTGTGTGTATACACACATACACACATGTGTGTGTGTATACA CACATACACACACATGTGTGTGTATATACACACATACACACACATGTGTG TGTATATACACACATACACACACATGTGTGTGTATATACACACATACACA	CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPN15_chr16_522712_559636	544825	C C	CCTCCCCC others(221): Show CCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCTCACGTCGCCTCCCC TCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCC ACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCTCACGTCGC CTCCCCCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCT CCCCCACGTCGCCTCCCCCACGTCGTCGT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02559.hp2 HG02109.hp1 HG02559.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0001 a0001c0002t0001 a0001c0004t0001	a0001c0002t0001g0361 a0001c0004t0001g0347 a0001c0002t0001g0361 a0001c0004t0001g0347	2	410	0.0049	228	c.-22 others(245): Show c.-22-1958_-22-1957insTCACGTCGCCTCCCCTCACGTCGTCGCC TCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCC CACGTCGCCTCCCCCACGTCGCCTCCCCTCACGTCGCCTCCCCCACGTCG TCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCC TCCCCCACGTCGTCGTCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAPN5_chr11_77061971_77131155	77098708	G G	GCGGCTGG others(221): Show GCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGTGGGGGGGGCTGACCCCCCCATATCCCTCCCAGACGGG GTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGGGCGG GCAGAGGCGCCCCTCACCTCCTGGACGGGGCGGCTGGCCGGGCAGGGGGC TGACCCCCCCACCTCCCTCCCGGACGGCA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0013 a0008c0013t0013	a0008c0013t0013g0050 a0008c0013t0013g0050	1	382	0.0026	228	c.297 others(245): Show c.297+4910_297+4911insGGGGCTGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGTGGGGGGGGCTGACCCCCCCATATCCCTCCCA GACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCG GGGCGGGCAGAGGCGCCCCTCACCTCCTGGACGGGGCGGCTGGCCGGGCA GGGGGCTGACCCCCCCACCTCCCTCCCGGACGGCACGGCTGGCCAGGCGG	CAPN5	ENSG00000149260.18	transcript	ENST00000648180.1	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
CAPN5_chr11_77061971_77131155	77098708	G G	GCGGCTGG others(221): Show GCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGTGGGGGGGGCTGACCCCCCCCATATCCCTCCCAGACGG GGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGGCGG GCAGAGGCGCCCCTCACCTCCTGGACGGGGCGGCTGGCCGGGCAGGGGGC TGACCCCCCCACCTCCCTCCCGGACGGCA	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0003 a0006c0008t0003	a0006c0008t0003g0019 a0006c0008t0003g0019	1	382	0.0026	228	c.297 others(245): Show c.297+4910_297+4911insGGGGCTGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGTGGGGGGGGCTGACCCCCCCCATATCCCTCCC AGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGC GGGCGGGCAGAGGCGCCCCTCACCTCCTGGACGGGGCGGCTGGCCGGGCA GGGGGCTGACCCCCCCACCTCCCTCCCGGACGGCACGGCTGGCCAGGCGG	CAPN5	ENSG00000149260.18	transcript	ENST00000648180.1	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
CAPN5_chr11_77061971_77131155	77098709	C C	CGGCTGGC others(221): Show CGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGG CGGCTGGCCGGGTGGGGGGGGCTGACCCCCCCATATCCCTCCCAGACGGG GTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGGCGGG CAGAGGCGCCCCTCACCTCCTGGACGGGGCGGCTGGCCGGGCAGGGGGCT GACCCCCCCACCTCCCTCCCGGACGGCAT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	382	0.0026	228	c.297 others(245): Show c.297+4910_297+4911insGGGGCTGACCCCCCCACCTCCCTCCCGG ACGGGGGCGGCTGGCCGGGTGGGGGGGGCTGACCCCCCCATATCCCTCCC AGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGC GGGCGGGCAGAGGCGCCCCTCACCTCCTGGACGGGGCGGCTGGCCGGGCA GGGGGCTGACCCCCCCACCTCCCTCCCGGACGGCATGGCTGGCCAGGCGG	CAPN5	ENSG00000149260.18	transcript	ENST00000648180.1	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
CAPN5_chr11_77061971_77131155	77098731	A A	ACCCCCCC others(221): Show ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTG ACCCCCCCATATCCCTCCCAGACGGGGTGGCTGGCCGGGCTGAGGGGCTC CTCACTTCCCAGTAGGGGCGGGCGGGCAGAGGCGCCCCTCACCTCCTGGA CGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCCCTCCCGGAC GGCACGGCTGGCCAGGCGGGGGGCTGACC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02970.hp2 NA20300.hp1 HG01891.hp1 HG02970.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0048 a0001c0001t0007 a0001c0001t0048	a0001c0001t0007g0008 a0001c0001t0048g0267 a0001c0001t0007g0008 a0001c0001t0048g0267	3	382	0.0079	228	c.297 others(245): Show c.297+4925_297+4926insACCTCCCTCCCGGACGGGGCGGCTGGCC GGGTGGGGGGGCTGACCCCCCCATATCCCTCCCAGACGGGGTGGCTGGCC GGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGGCGGGCAGAGGCGCC CCTCACCTCCTGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCA CCTCCCTCCCGGACGGCACGGCTGGCCAGGCGGGGGGCTGACCCCCCCCC	CAPN5	ENSG00000149260.18	transcript	ENST00000648180.1	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
CAPN5_chr11_77061971_77131155	77098731	A A	ACCCCCCC others(221): Show ACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCT GACCCCCCCATATCCCTCCCAGACGGGGTGGCTGGCCGGGCTGAGGGGCT CCTCACTTCCCAGTAGGGGCGGGCGGGCAGAGGCGCCCCTCACCTCCTGG ACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCCCTCCCGGA CGGCACGGCTGGCCAGGCGGGGGGCTGAC	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0169 a0001c0001t0005g0169	1	382	0.0026	228	c.297 others(245): Show c.297+4940_297+4941insCGGGGCGGCTGGCCGGGTGGGGGGGCTG ACCCCCCCATATCCCTCCCAGACGGGGTGGCTGGCCGGGCTGAGGGGCTC CTCACTTCCCAGTAGGGGCGGGCGGGCAGAGGCGCCCCTCACCTCCTGGA CGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCCCTCCCGGAC GGCACGGCTGGCCAGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGA	CAPN5	ENSG00000149260.18	transcript	ENST00000648180.1	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
CASQ2_chr1_115695021_115773714	115761439	A A	AAGAAGAA others(221): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAG GAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGA GGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAG GGAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0340 a0002c0003t0001g0340	1	364	0.0028	228	c.234 others(245): Show c.234+6868_234+6869insCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCCTCTC CCTCTCCCTCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCC CTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTT CCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761439	A A	AAGAAGAA others(221): Show AAGAAGAAGAAGAAGAAGAAGAAGGGGAAGGGGAAGGGGAAGGGGAAGGG GAAGGGGAGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGG GGGAGGGGGAGGGGGAGGGGGGGGGAGGGGGAGGGGGAGGGGGAGGGGGA GAGGGAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGA AGAGGAAGAAGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0025 a0001c0002t0012g0025	1	364	0.0028	228	c.234 others(245): Show c.234+6868_234+6869insCTTCTTCTTCTTCTTCTTCTTCTTCCTC TTCTTCTTCTTCTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCCTCTCCCT CTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCCCCTCCCCCTCCCCCTCC CCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCTT CCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCTTCTTCTTCTTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761439	A A	AAGAAGAA others(221): Show AAGAAGAAGAAGAAGAGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAA GGGGAAGGGGAAGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGGAGGGG GAGAGGGAGAGGGAGAGGGAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAA GAAGAAGAAGAAGAAGAAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGGAG	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0151 a0001c0001t0005g0151	1	364	0.0028	228	c.234 others(245): Show c.234+6868_234+6869insCTCCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTTCTTCTTCTTCTTCTT CTTCCTCTCCTTCTCCTTCTCCTTCTTCCTCTCCCTCTCCCTCTCCCTCT CCCCCTCCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCTTCCCCTTCCC CTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCTCTTCTTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761467	A A	AAGAAGAA others(221): Show AAGAAGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAA GGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGGAGGGGGAGGGGG AGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAG AGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGAAGAAGGA GAAGGAGAAGGAGAAGGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0122 a0001c0001t0002g0122	1	364	0.0028	228	c.234 others(245): Show c.234+6840_234+6841insCCTTCTCCTTCTCCTTCTCCTTCTCCTT CTCCTTCTTCTTCTTCTTCTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCC TCTCCCTCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCC TCCCCCTCCCCCTCCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCC CTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761473	A A	AAGAGGAG others(221): Show AAGAGGAGGAAGAAGAAGAAGAAGAAGGGGAAGGGGAAGGGGAAGGGGAA GGGGAAGGGGAGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGG GGAGGGGGAGGAGGGAGAGGGAGAGGGAGAGGGAGAGGAAGAAGGAGAAG GAGAAGGAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGGAGAAGGAGAAGGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0203 a0001c0002t0003g0203	1	364	0.0028	228	c.234 others(245): Show c.234+6834_234+6835insCCTTCTCCTTCTCCTTCTCCTTCTCCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTCCTTCT CCTTCTCCTTCTTCCTCTCCCTCTCCCTCTCCCTCTCCCTCCTCCCCCTC CCCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCTTCCC CTTCCCCTTCCCCTTCCCCTTCCCCTTCTTCTTCTTCTTCTTCCTCCTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761476	A A	AAGGGGAA others(221): Show AAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAA GGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGGAGGGGGAGGGGG AGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAG AGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGAAGAAGGA GAAGGAGAAGGAGAAGGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0088 a0001c0001t0002g0088	1	364	0.0028	228	c.234 others(245): Show c.234+6831_234+6832insCCTTCTCCTTCTCCTTCTCCTTCTCCTT CTCCTTCTTCTTCTTCTTCTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCC TCTCCCTCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCC TCCCCCTCCCCCTCCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCC CTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar

Search by Variant

Search

Search Results