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
ARHGEF10_chr8_1818926_1963641	1824952	T T	TCCCCGCA others(435): Show TCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCTCCCCACACCC CACCTGTTTACTCTGCACCCCAGCTGTCCCCCCACACCCCACCTGTTCAC CCGCACTCCACCTGTCCCCCCGCACTCCACCTGTCCCCCCGCACCCCACC TGTCCCCCCGCACCCCACCTGTCCCTCCGCACCCCACCTGTCCCCCCGCA CCCCACCTGTCCCCCTCGCACCCCACCTGCCCCCCCGCACCCCACCTGTC CCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTTCACCCGCACCC CACCTGTCCCCCCGCACCCCACCTGTCCCCCCCGCACCCCACCTGTCCCC CTGCACCCCACCTGTTCACCTGCACCCCACCTGTCCCTCCGCACCCCACC TGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCC	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0210 a0001c0008t0002g0210	1	363	0.0028	442	c.-48 others(457): Show c.-48+997_-48+998insGCACCCCACCTGTCCCTCCGCACCCCACCT GTCCCCCCGCACCCCACCTGTCCCCCTCGCACCCCACCTGCCCCCCCGCA CCCCACCTGTCCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTT CACCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCCGCACCC CACCTGTCCCCCTGCACCCCACCTGTTCACCTGCACCCCACCTGTCCCTC CGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCT GTCCCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCTCCCCACA CCCCACCTGTTTACTCTGCACCCCAGCTGTCCCCCCACACCCCACCTGTT CACCCGCACTCCACCTGTCCCCCCGCACTCCACCTGTCCCCCCGCACCCC ACCTGTCCCCCC	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1824952	T T	TCCCCGCA others(435): Show TCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCTCCCCCACACC CCACCTGTTTACTCTGCACCCCAGCTGTCCCCCCACACCCCACCTGTTCA CCCGCACTCCACCTGTCCCCCCGCACTCCACCTGTCCCCCCCGCACCCCA CCTGTCCCCCCGCACCCCACCTGTCCCTCCGCACCCCACCTGTCCCCCCG CACCCCACCTGTCCCCTCGCACCCCACCTGCCCCCCCGCACCCCACCTGT CCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTTCACCCGCACCC CACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCC TGCACCCCACCTGTTCACCTGCACCCCACCTGTCCCTCCGCACCCCACCT GTCCCCCCGCACCCCACCTGTCCCCCCCGCACCCCACCTGTCC	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0324 a0001c0004t0002g0324	1	363	0.0028	442	c.-48 others(457): Show c.-48+882_-48+883insCACACCCCACCTGTTTACTCTGCACCCCAG CTGTCCCCCCACACCCCACCTGTTCACCCGCACTCCACCTGTCCCCCCGC ACTCCACCTGTCCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGT CCCTCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCTCGCACCC CACCTGCCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCC CGCACCCCACCTGTTCACCCGCACCCCACCTGTCCCCCCGCACCCCACCT GTCCCCCCGCACCCCACCTGTCCCCCTGCACCCCACCTGTTCACCTGCAC CCCACCTGTCCCTCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCC CCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCTCGCACCCCA CCTGTCCTCCCC	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1825143	T T	TTCACCTG others(435): Show TTCACCTGCACCCCACCTGTCCCTCCGCACCCCACCTGTCCCCCCGCACC CCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCC CCGCACCCCACCTGTCCCCCCCGCACCCCACCTGTCCCCCCGCACCCCCA CCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCG CACCCCACCTGTTCACCTGCACCCCACCTGTCCCTCCGCACCCCACCTGT CCCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCCCCCGCACCC CACCTGTCCCCTCGCACCCCACCTGTCCTCCCCACACCCCACCTGTTTAC TCTGCACCCCAGCTGTCCCCCCACACCCCACCTGTTCACCCGCACTCCAC CTGTCCCCCCGCAATCCACCTGTCCCCCCGCACCCCACCTGTC	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0153 a0001c0153	a0001c0153t0002 a0001c0153t0002	a0001c0153t0002g0014 a0001c0153t0002g0014	1	363	0.0028	442	c.-48 others(459): Show c.-48+1030_-48+1031insTCACCTGCACCCCACCTGTCCCTCCGCA CCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCC CCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCCGCACCCC ACCTGTCCCCCCGCACCCCCACCTGTCCCCCCGCACCCCACCTGTCCCCC CGCACCCCACCTGTCCCCCCGCACCCCACCTGTTCACCTGCACCCCACCT GTCCCTCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCTCGCAC CCCACCTGTCCCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCT CCCCACACCCCACCTGTTTACTCTGCACCCCAGCTGTCCCCCCACACCCC ACCTGTTCACCCGCACTCCACCTGTCCCCCCGCAATCCACCTGTCCCCCC GCACCCCACCTGTC	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28			chr8	TogoVar
ARSF_chrX_3036471_3117727	3037064	A A	AATATATA others(435): Show AATATATATATTATATATATAAAATATTATATATAATATTATATATAATA TATATTATATATATAAAATATTATATATAATATTATATATAAAATATATA TAATATATATAATATATATATTATATATAAAATATATATAATATATATAA TATATATATTATATATATAATATATATAATATATATAATATATATATTAT ATATAAAATATATATAATATATATAATATATATATTATATATAAAATATA TATAATATATATAATATATATATTATATATAAAATATATATAATATATAT ATTATATATATAAAATATATATAATATATATAATATATATATTATATATA AAATATATATAATATATATATTATATATAAAATATATATAATATATATAA TATATATATTATATATAAAATATATATAATATATATAATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0001 a0005c0011t0001	a0005c0011t0001g0024 a0005c0011t0001g0024	1	193	0.0052	442	c.-46 others(453): Show c.-4628_-4627insATATATATATTATATATATAAAATATTATATATA ATATTATATATAATATATATTATATATATAAAATATTATATATAATATTA TATATAAAATATATATAATATATATAATATATATATTATATATAAAATAT ATATAATATATATAATATATATATTATATATATAATATATATAATATATA TAATATATATATTATATATAAAATATATATAATATATATAATATATATAT TATATATAAAATATATATAATATATATAATATATATATTATATATAAAAT ATATATAATATATATATTATATATATAAAATATATATAATATATATAATA TATATATTATATATAAAATATATATAATATATATATTATATATAAAATAT ATATAATATATATAATATATATATTATATATAAAATATATATAATATATA TAATATAT	ARSF	ENSG00000062096.15	transcript	ENST00000381127.6	protein_coding		4406		chrX	TogoVar
ARSH_chrX_3001546_3039111	3037064	A A	AATATATA others(435): Show AATATATATATTATATATATAAAATATTATATATAATATTATATATAATA TATATTATATATATAAAATATTATATATAATATTATATATAAAATATATA TAATATATATAATATATATATTATATATAAAATATATATAATATATATAA TATATATATTATATATATAATATATATAATATATATAATATATATATTAT ATATAAAATATATATAATATATATAATATATATATTATATATAAAATATA TATAATATATATAATATATATATTATATATAAAATATATATAATATATAT ATTATATATATAAAATATATATAATATATATAATATATATATTATATATA AAATATATATAATATATATATTATATATAAAATATATATAATATATATAA TATATATATTATATATAAAATATATATAATATATATAATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0094 a0001c0002t0006g0094	1	248	0.0040	442	c.36 others(453): Show c.3679_*3680insATATATATATTATATATATAAAATATTATATATA ATATTATATATAATATATATTATATATATAAAATATTATATATAATATTA TATATAAAATATATATAATATATATAATATATATATTATATATAAAATAT ATATAATATATATAATATATATATTATATATATAATATATATAATATATA TAATATATATATTATATATAAAATATATATAATATATATAATATATATAT TATATATAAAATATATATAATATATATAATATATATATTATATATAAAAT ATATATAATATATATATTATATATATAAAATATATATAATATATATAATA TATATATTATATATAAAATATATATAATATATATATTATATATAAAATAT ATATAATATATATAATATATATATTATATATAAAATATATATAATATATA TAATATAT	ARSH	ENSG00000205667.3	transcript	ENST00000381130.3	protein_coding		2954		chrX	TogoVar
ATXN2_chr12_111447214_111604315	111589649	A A	ATAATCCC others(435): Show ATAATCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCATTTGAACGCAA GAGGCAGAGGTTGCACTGAGCCGATATCCTGCCACTGCACCCCACCCTAG GCAACAGAGTGAAACAAAAATTTTGCTGGGCATAGTGGCGCATGCCTGTG GTCCCAGCTACTCAGGAGGCTGAGATAGGAGGATCACTTGGGCCTGAGAA CTCGAGGTTGCAATGAGCCATGATGGCACCACTGCACTCCCGCCTGGGTG ACAGAGCTAGAACCTGTCTCAAAAAAATAAGGCGAGGCGCAGTGGCTCAT GCTGTAATCCCAAAACTTTGGGAGGCCAAGACAGGCAGATCACCTAAGGT CAGGAGTTCAAGACGAGCCTGGCCAACATGGTGAAACCCCATCTCTACTA AAAAAAAATACAAAAATTTGCCAGGTGTAGTGGTGCATGCCTG	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp2 HG01243.hp2 others(35): Show HG01168.hp2 HG01169.hp2 HG01243.hp2 HG01884.hp1 HG01943.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp2 HG02257.hp1 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02630.hp1 HG02717.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03130.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp2 NA18906.hp2 NA19030.hp2 NA19043.hp2 NA19240.hp2 NA20300.hp2 NA21309.hp1	a0003 a0004 a0005 others(6): Show a0003 a0004 a0005 a0006 a0008 a0010 a0011 a0012 a0013	a0003c0004 a0003c0006 a0003c0007 others(9): Show a0003c0004 a0003c0006 a0003c0007 a0003c0014 a0004c0023 a0005c0028 a0006c0010 a0008c0022 a0010c0027 a0011c0021 a0012c0015 a0013c0020	a0003c0004t0003 a0003c0004t0005 a0003c0004t0008 others(12): Show a0003c0004t0003 a0003c0004t0005 a0003c0004t0008 a0003c0006t0003 a0003c0007t0003 a0003c0007t0005 a0003c0014t0003 a0004c0023t0003 a0005c0028t0005 a0006c0010t0003 a0008c0022t0003 a0010c0027t0003 a0011c0021t0003 a0012c0015t0005 a0013c0020t0003	a0003c0004t0003g0088 a0003c0004t0003g0089 a0003c0004t0003g0090 others(35): Show a0003c0004t0003g0088 a0003c0004t0003g0089 a0003c0004t0003g0090 a0003c0004t0003g0092 a0003c0004t0003g0094 a0003c0004t0003g0095 a0003c0004t0003g0096 a0003c0004t0003g0097 a0003c0004t0003g0098 a0003c0004t0003g0099 a0003c0004t0003g0100 a0003c0004t0003g0101 a0003c0004t0003g0102 a0003c0004t0003g0103 a0003c0004t0003g0104 a0003c0004t0003g0105 a0003c0004t0003g0106 a0003c0004t0003g0107 a0003c0004t0003g0108 a0003c0004t0003g0110 a0003c0004t0003g0111 a0003c0004t0005g0086 a0003c0004t0005g0087 a0003c0004t0005g0091 a0003c0004t0008g0215 a0003c0006t0003g0213 a0003c0007t0003g0114 a0003c0007t0005g0116 a0003c0014t0003g0003 a0004c0023t0003g0119 a0005c0028t0005g0208 a0006c0010t0003g0112 a0006c0010t0003g0113 a0008c0022t0003g0118 a0010c0027t0003g0207 a0011c0021t0003g0115 a0012c0015t0005g0004 a0013c0020t0003g0085	38	298	0.1275	442	c.251 others(459): Show c.251+8693_251+9134dupCAGGCATGCACCACTACACCTGGCAAAT TTTTGTATTTTTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCT CGTCTTGAACTCCTGACCTTAGGTGATCTGCCTGTCTTGGCCTCCCAAAG TTTTGGGATTACAGCATGAGCCACTGCGCCTCGCCTTATTTTTTTGAGAC AGGTTCTAGCTCTGTCACCCAGGCGGGAGTGCAGTGGTGCCATCATGGCT CATTGCAACCTCGAGTTCTCAGGCCCAAGTGATCCTCCTATCTCAGCCTC CTGAGTAGCTGGGACCACAGGCATGCGCCACTATGCCCAGCAAAATTTTT GTTTCACTCTGTTGCCTAGGGTGGGGTGCAGTGGCAGGATATCGGCTCAG TGCAACCTCTGCCTCTTGCGTTCAAATGATTCTCATGCCTCAGCCTCCCG AGTAGCTGGGATTA	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	1/24			chr12	TogoVar
BFSP2_chr3_133395056_133480208	133425943	A A	AGGGAGGG others(435): Show AGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGA GGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGA GGGGAGGGGGAGGGGAGGGAGGGGAGGGGAGGGGATGGGAGGGGGAGGGG AGGGGATGGGAGGGGGAGGGGAGGGGATGGGAGGGGGAGGGGAGGGGATG GGAGGGGGAGGGGAGGGGATGGGAGGGGGAGGGGAGGGGGAGGGGAGGGG AGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGGAGGGGAGGGGG AGGGGAGGGGGGAGGGGAGGGGAGGGGGAGGGGGGGAGGGGGAGGGGGAG GGGGAGGGGAGGGGAGAGGGAGGGGATGGGGAGGGGAGGGGGAGGGGGGG AGGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGG	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	276	0.0036	442	c.490 others(461): Show c.490-21366_490-21365insGAGGGGAGGGGGAGGGGAGGGGGAGG GGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGG GGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGAGGGGAGGGGAGGGGA TGGGAGGGGGAGGGGAGGGGATGGGAGGGGGAGGGGAGGGGATGGGAGGG GGAGGGGAGGGGATGGGAGGGGGAGGGGAGGGGATGGGAGGGGGAGGGGA GGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGG GGGGAGGGGAGGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGGAGGGGGG GAGGGGGAGGGGGAGGGGGAGGGGAGGGGAGAGGGAGGGGATGGGGAGGG GAGGGGGAGGGGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAG GGGGAGGGGGGAGGGG	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
BFSP2_chr3_133395056_133480208	133425964	A A	AGGGGAGG others(435): Show AGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGG AGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAG GGGATGGGAGGGGGAGGGGAGGGGATGGGAGGGGGAGGGGAGGGGATGGG AGGGGGAGGGGAGGGGATGGGAGGGGGGAGGGGAGGGGATGGGAGGGGGA GGGGAGGGGATGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGG GGAGGGGGAGGGGAGGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGG GGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGAGAGGGA GGGGATGGGGAGGGGAGGGGGAGGGGGGGAGGGGGAGGGGGAGGGGAGGG GAGGGGGAGGGGAGGGGGAGGGGGGAGGGGAGGGGGAGGGGAT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	276	0.0036	442	c.490 others(461): Show c.490-21348_490-21347insGGGGGAGGGGGAGGGGGAGGGGAGGG GGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGG GAGGGGAGGGGAGGGGAGGGGATGGGAGGGGGAGGGGAGGGGATGGGAGG GGGAGGGGAGGGGATGGGAGGGGGAGGGGAGGGGATGGGAGGGGGGAGGG GAGGGGATGGGAGGGGGAGGGGAGGGGATGGGAGGGGGAGGGGAGGGGGA GGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGGAGGGGAGGGGGA GGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGG GAGGGGAGGGGAGAGGGAGGGGATGGGGAGGGGAGGGGGAGGGGGGGAGG GGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGGAGGGGAG GGGGAGGGGATGGGGA	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
C1QTNF12_chr1_1237453_1251722	1245142	T T	TCCCTCCT others(435): Show TCCCTCCTCCCCACTCCTCTGCCTCCTCCCCCTTCCCCCTCCTCCCCCCA CTCCTCTCCCTCTTCCCCCGACTCCTTCCCCTACTCATCTCCCTCCTCCC CCACTCCTCTCCCCTCCTCTCCACTCCTCCCCCTCCTCCCCCACTCTCCC CCCACTGCTCTCCCCTCTTCCCCCCACTCCTCCCCCACTCCTCTCACCCT CCTTCTCCACTCCTCTCCCCTCCCACTCCTCCCCCACTCCTGTCCCCTCC TCCCCCCTCTTCCCCTCCTCCCCCCACTCATCTCCCTCCTCCCCACTCCT CTCCCCTCTTCCTCCCACTCCCCCCACTCCTCCCCCACTCCTCTCCCCTC TCTGCCCCCACTCCTCCCCACTCCTTCCCCACTCCTCTCCTCTCTTCCCC CCACTCCTCCCCCACTCCTCTCCCCTCCTCCCCCACTCCTCTC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0089 a0002c0002t0001g0089	1	328	0.0031	442	c.178 others(457): Show c.178-646_178-645insGAGAGGAGTGGGGGAGGAGGGGAGAGGAGT GGGGGAGGAGTGGGGGGAAGAGAGGAGAGGAGTGGGGAAGGAGTGGGGAG GAGTGGGGGCAGAGAGGGGAGAGGAGTGGGGGAGGAGTGGGGGGAGTGGG AGGAAGAGGGGAGAGGAGTGGGGAGGAGGGAGATGAGTGGGGGGAGGAGG GGAAGAGGGGGGAGGAGGGGACAGGAGTGGGGGAGGAGTGGGAGGGGAGA GGAGTGGAGAAGGAGGGTGAGAGGAGTGGGGGAGGAGTGGGGGGAAGAGG GGAGAGCAGTGGGGGGAGAGTGGGGGAGGAGGGGGAGGAGTGGAGAGGAG GGGAGAGGAGTGGGGGAGGAGGGAGATGAGTAGGGGAAGGAGTCGGGGGA AGAGGGAGAGGAGTGGGGGGAGGAGGGGGAAGGGGGAGGAGGCAGAGGAG TGGGGAGGAGGG	C1QTNF12	ENSG00000184163.3	transcript	ENST00000330388.2	protein_coding	1/7			chr1	TogoVar
CACNA2D3_chr3_54117552_55079557	54736140	T T	TATACATA others(435): Show TATACATATATATACGTATATATATACGTATATATACGTATATATATATA CGTATATATACGTATATATATACGTATATATACGTATATATATATACGTA TATATACGTATATATATATACGTATATATATACATATATACGTATATATA TATATATACGTATATATATGTATATATATACGTATATATATATACATATA TATACGTATATATATACATATATACGTATATATATATATACGTATATATA TGTATATATATACGTATATATATATACATATATATACGTATATATATATA CATATATATACGTATATATATGTATATATATACGTATATATATACATATA TATATACGTATATATATGTATATATATATACGTATATATATGTATATATA TATACGTATATATATATACATATATATATACGTATATATATAC	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0002 a0001c0021t0002	a0001c0021t0002g0023 a0001c0021t0002g0023	1	118	0.0085	442	c.116 others(463): Show c.1168-16458_1168-16457insTACATATATATACGTATATATATA CGTATATATACGTATATATATATACGTATATATACGTATATATATACGTA TATATACGTATATATATATACGTATATATACGTATATATATATACGTATA TATATACATATATACGTATATATATATATATACGTATATATATGTATATA TATACGTATATATATATACATATATATACGTATATATATACATATATACG TATATATATATATACGTATATATATGTATATATATACGTATATATATATA CATATATATACGTATATATATATACATATATATACGTATATATATGTATA TATATACGTATATATATACATATATATATACGTATATATATGTATATATA TATACGTATATATATGTATATATATATACGTATATATATATACATATATA TATACGTATATATATACA	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	11/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNG6_chr19_53986637_54017666	53990563	C C	CCCAGGCC others(435): Show CCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCCAA CCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCCAGCCCCTCCTCCCTC AGACCCAGGAGCCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTC CAGGCCCCCAGCCCCTCCTCCTTCAGACCCAGGAGTTCAGGCCCCAGTCC CTCCTCCCTCAGACCCAGAAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGA CTCAGGACCCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAG GCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCAGCCCCTC CTCCCTCAGACCCAGGAGTCCAGACCCCCAGCCCCTCCTCCCTCAGACCC AGGAGCCCAGGCCCCCAACCCCTCCTCCCTCAGACCCAGGAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0256 a0001c0001t0006g0256	1	430	0.0023	442	c.-23 others(453): Show c.-2315_-2314insCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGG AGCCCAGGCCCCCAACCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCC AGCCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCCAGCCCCTCCTCCC TCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCTTCAGACCCAGGAG TTCAGGCCCCAGTCCCTCCTCCCTCAGACCCAGAAGTCCAGGCCCCCAGC CCCTCCTCCCTCAGACTCAGGACCCCAGGCCCCCAGCCCCTCCTCCCTCA GACCCAGGAGCCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCC AGGCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGACCCCCAGCCCC TCCTCCCTCAGACCCAGGAGCCCAGGCCCCCAACCCCTCCTCCCTCAGAC CCAGGAGT	CACNG6	ENSG00000130433.8	transcript	ENST00000252729.7	protein_coding		1073		chr19	TogoVar
CACNG8_chr19_53957937_53995215	53990563	C C	CCCAGGCC others(435): Show CCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCCAA CCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCCAGCCCCTCCTCCCTC AGACCCAGGAGCCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTC CAGGCCCCCAGCCCCTCCTCCTTCAGACCCAGGAGTTCAGGCCCCAGTCC CTCCTCCCTCAGACCCAGAAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGA CTCAGGACCCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAG GCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCAGCCCCTC CTCCCTCAGACCCAGGAGTCCAGACCCCCAGCCCCTCCTCCCTCAGACCC AGGAGCCCAGGCCCCCAACCCCTCCTCCCTCAGACCCAGGAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0133 a0001c0001t0133	a0001c0001t0133g0190 a0001c0001t0133g0190	1	394	0.0025	442	c.77 others(453): Show c.7714_*7715insCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGG AGCCCAGGCCCCCAACCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCC AGCCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCCAGCCCCTCCTCCC TCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCTTCAGACCCAGGAG TTCAGGCCCCAGTCCCTCCTCCCTCAGACCCAGAAGTCCAGGCCCCCAGC CCCTCCTCCCTCAGACTCAGGACCCCAGGCCCCCAGCCCCTCCTCCCTCA GACCCAGGAGCCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCC AGGCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGACCCCCAGCCCC TCCTCCCTCAGACCCAGGAGCCCAGGCCCCCAACCCCTCCTCCCTCAGAC CCAGGAGT	CACNG8	ENSG00000142408.7	transcript	ENST00000270458.4	protein_coding		349		chr19	TogoVar
CCDC6_chr10_59783747_59911556	59882279	G G	GCCGGGGG others(435): Show GCCGGGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCG GGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGGGAGA AGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGA AAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAA AGCCGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGG CGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCAGGGGGAG AAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAA AGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGA AAGCCGCGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAA	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18979.hp1 NA18953.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0065 a0001c0001t0002g0091 a0001c0001t0002g0065 a0001c0001t0002g0091	2	288	0.0069	442	c.303 others(461): Show c.303+23842_303+23843insTTTCCTTCTCCCGCCGGCTTTCCTTT CCTTCTCCCCGCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTT CTCCCCCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCG CCGGCTTTCCTTTCCTTCTCCCCCTGGCTTTCCTTTCCTTCTCCCCGGCT TTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCC TTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCT TCTCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCC GCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCGGC TTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCT TTCCTTCTCCCCCCGG	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8			chr10	TogoVar
CCDC88A_chr2_55282842_55424856	55384523	A A	ATATATAC others(435): Show ATATATACATATATACGTATGTATGTGTATATATACATATATACGTATGT ATGTGTATATATACATATATACGTATGTATGTGTATATATACATATATAC GTATGTATGTGTATATATACATATATACGTATGTATGTGTATATATACAT ATATACGTATGTGTATATATACATATATACGTATGTATGTGTATATATAC ATATATACGTATGTATGTGTATATATACATATATACGTATGTATGTGTAT ATATACATATATACGTATGTATGTGTATATATACATATATACGTATGTAT GTGTATATATACATATATACGTATGTATGTGTATATATACATATATACGT ATGTATGTGTATATATACATATATACGTATGTATGTGTATATATACATAT ATACGTATGTATGTGTATATATACATATATACGTATGTATGTG	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0210	1	316	0.0032	442	c.273 others(459): Show c.273+4254_273+4255insCACATACATACGTATATATGTATATATA CACATACATACGTATATATGTATATATACACATACATACGTATATATGTA TATATACACATACATACGTATATATGTATATATACACATACATACGTATA TATGTATATATACACATACATACGTATATATGTATATATACACATACATA CGTATATATGTATATATACACATACATACGTATATATGTATATATACACA TACATACGTATATATGTATATATACACATACATACGTATATATGTATATA TACACATACGTATATATGTATATATACACATACATACGTATATATGTATA TATACACATACATACGTATATATGTATATATACACATACATACGTATATA TGTATATATACACATACATACGTATATATGTATATATACACATACATACG TATATATGTATATA	CCDC88A	ENSG00000115355.18	transcript	ENST00000436346.7	protein_coding	3/32			chr2	TogoVar
CCDC88A_chr2_55282842_55424856	55384560	C C	CATATATA others(435): Show CATATATACGTATGTATGTGTATATATACATATATACGTATGTATGTGTA TATATACATATATACGTATGTATGTGTATATATACATATATACGTATGTA TGTGTATATATACATATATACGTATGTATGTGTATATATACATATATACG TATGTATGTGTATATATACATATATACGTATGTATGTGTATATATACATA TATACGTATGTATGTGTATATATACATATATACGTATGTATGTGTATATA TACATATATACGTATGTATGTGTATATATACATATATACGTATGTATGTG TATATATACATATATACGTATGTATGTGTATATATACATATATACGTATG TATGTGTATATATACATATATACGTATGTATGTGTATATATACATATATA CGTATGTATGTGTATATATACATATATACGTATGTGTATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0246 a0001c0001t0005g0246	1	316	0.0032	442	c.273 others(459): Show c.273+4217_273+4218insATATATACACATACGTATATATGTATAT ATACACATACATACGTATATATGTATATATACACATACATACGTATATAT GTATATATACACATACATACGTATATATGTATATATACACATACATACGT ATATATGTATATATACACATACATACGTATATATGTATATATACACATAC ATACGTATATATGTATATATACACATACATACGTATATATGTATATATAC ACATACATACGTATATATGTATATATACACATACATACGTATATATGTAT ATATACACATACATACGTATATATGTATATATACACATACATACGTATAT ATGTATATATACACATACATACGTATATATGTATATATACACATACATAC GTATATATGTATATATACACATACATACGTATATATGTATATATACACAT ACATACGTATATAT	CCDC88A	ENSG00000115355.18	transcript	ENST00000436346.7	protein_coding	3/32			chr2	TogoVar
CD247_chr1_167425640_167523529	167435262	G G	GGAGCCCT others(435): Show GGAGCCCTCCTCCAGCCCTTCCTCCAGCCCTCCTCCGGAGCCCTCCTCCA GCCCTTCCTCCAGCCCTTCCTCCGGAGCCCTCCTCCAGCCCTTCCTCCAG CCCTCCTCCGGAGCCCTCCTCCAGCCCTTCCTCCAGCCCTTCCTCCGGAG CCCTCCTCCAGCCCTTCCTCCAGCCCTTCCTCCGGAGCCCTCCTCCAGCC CTTCCTCCAGCCCTTCCTCCGGAGCCCTCCTCCAGCCCTTCCTCCAGCCC TTCCTCCGGAGCCCTCCTCCAGCCCTTCCTCCAGCCCTTCCTCCGGAGCC CTCCTCCAGCCCTTCCTCCAGCCCTTCCTCCGGAGCCCTCCTCCAGCCCT TCCTCCAGCCCTTCCTCCGGAGCCCTCCTCCAGCCCTTCCTCCAGCCCTT CCTCCGGAGCCCTCCTCCAGCCCTTCCTCCAGCCCTTCCTCCA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0342 a0001c0002t0006g0342	1	374	0.0027	442	c.336 others(457): Show c.336+136_336+137insTGGAGGAAGGGCTGGAGGAAGGGCTGGAGG AGGGCTCCGGAGGAAGGGCTGGAGGAAGGGCTGGAGGAGGGCTCCGGAGG AAGGGCTGGAGGAAGGGCTGGAGGAGGGCTCCGGAGGAAGGGCTGGAGGA AGGGCTGGAGGAGGGCTCCGGAGGAAGGGCTGGAGGAAGGGCTGGAGGAG GGCTCCGGAGGAAGGGCTGGAGGAAGGGCTGGAGGAGGGCTCCGGAGGAA GGGCTGGAGGAAGGGCTGGAGGAGGGCTCCGGAGGAAGGGCTGGAGGAAG GGCTGGAGGAGGGCTCCGGAGGAAGGGCTGGAGGAAGGGCTGGAGGAGGG CTCCGGAGGAGGGCTGGAGGAAGGGCTGGAGGAGGGCTCCGGAGGAAGGG CTGGAGGAAGGGCTGGAGGAGGGCTCCGGAGGAGGGCTGGAGGAAGGGCT GGAGGAGGGCTC	CD247	ENSG00000198821.12	transcript	ENST00000362089.10	protein_coding	5/7			chr1	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(435): Show CCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC CTCCCCTCCCCCTCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCTCCCCTC CCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCT CCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCCCCC TCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCC CTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCC CCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTC CCCTCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCT CCCCTCCCCCTCCCTTCCCCTCCTCTCCCCTCCCCTCCCCTCT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	256	0.0039	442	c.-45 others(463): Show c.-455+14589_-455+14590insCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCCTCCCCCCT CCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCC TCCCCCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCC TCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCC CTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCC CCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCCTCCCCCTCCCCTCCCCCTCCCTTCCCCTCCTCTCCCCTCCCCTCCC CTCTCCCCTCCCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(435): Show CCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC TCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCT CCCCCCTCCCCTCCCCTCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCT CCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCC TCTCCCCTCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTC CCCTCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTC CCCTCCCCCTCCTCTCCCCCTCCCTTCCCCTCCTCTCCCCTCT	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0114 a0001c0001t0004g0114	1	256	0.0039	442	c.-45 others(463): Show c.-455+14591_-455+14592insCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTC CCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCCCTCCCCCCTCCC CTCCCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCT CCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCC TCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCT CTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCTTCCCCTCCTCTCCCCT CTCCCCTCCCCTCCCCTC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTTC others(435): Show CCCCCTTCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCC CCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCT CCCCTCCCCTCTCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCCT CCTCTCCCCCTCCCTTCCCCTCCTCTCCCCTCCCCTCCCCTCTCCCCTCC CCTCCCCTCTCCTCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCC CCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTC CCCTCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCCT CCCCCTCCTCTCCCCCTCCCTTCCCCTCCTCTCCCCTCCCCTCCCCTCTC CCCTCCCCTCCCCTCTCCTCTCCCCTCCCCTCCCCTCTCCTCT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0047 a0001c0001t0006g0047	1	256	0.0039	442	c.-45 others(463): Show c.-455+14580_-455+14581insTCCCTCCCCCTCCCCTCCCCCCTC CCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCC TCCCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCC TCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCTTCCCCTCCTCTCCCC TCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCTCTCCCCTCCCCTCCCCT CCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCC CTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCC CCCTCCTCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCTTCCCCTCCT CTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCTCTCCCCTCCCC TCCCCTCTCCTCTCCCCT	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CDC42SE2_chr5_131259053_131399672	131278752	C C	CCCCCCTC others(435): Show CCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCC CTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTC CCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTC CCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTC CCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCT CCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCC TCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCCC CTCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCTCTCCC CCTCCCTTCCCCTCCTCCCCTCCCCTCCCCTCTCCCCTCCCCT	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	256	0.0039	442	c.-45 others(463): Show c.-455+14589_-455+14590insCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCC CTCCCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTC CCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTC CCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCT CCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCC TCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCTCCC CTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCCTCCTCTCCCCCTCCCTTCCCCTCCTCCCCTCCCCTCC CCTCTCCCCTCCCCTCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CELSR1_chr22_46356174_46542620	46487657	A A	AGGGTGCA others(435): Show AGGGTGCAGGTGGGGGGTGCGGGGGAGGGGAGTCCAGGGTGCAGGTGGGG GGTGCGGGGGAGGGGAGTCCAGGGTGCAGGTGGGGGGCGCGGGGGAGGGG AGTCCAGGGTGCAGGTGGGGGGCACGGGGGAGGGGAGTCCAGGGTGCAGG TGGGGGGCGTGGGGGAGGGGAGTCCAGGGTGCAGGTGGGGGGCGTGGGGG AGGGGAGTCCAGGGTGCAGGTGGGGGGTGCGGGGGAGGGGAGTCCAGGGT GCGGGGGAGGGGAGTCCAGGGTGCAGGTGGGGGGTGCGGGGGAGGGGAGT CCAGGGTGCAGGTGGGGGGCGTGGGGGAGGGGAGTCCAGGGTGCAGGTGG GGGGTGCGGGGGAGGGGAGTCCAGGGTGCGGGGGAGGGGAGTCCAGGGTG CAGGTGGGGGGCACGGAGGAGGGGAGTCCAGGGTGCAGGTGGG	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0048 a0048	a0048c0068 a0048c0068	a0048c0068t0001 a0048c0068t0001	a0048c0068t0001g0102 a0048c0068t0001g0102	1	104	0.0096	442	c.354 others(463): Show c.3545-23313_3545-23312insCCCACCTGCACCCTGGACTCCCCT CCTCCGTGCCCCCCACCTGCACCCTGGACTCCCCTCCCCCGCACCCTGGA CTCCCCTCCCCCGCACCCCCCACCTGCACCCTGGACTCCCCTCCCCCACG CCCCCCACCTGCACCCTGGACTCCCCTCCCCCGCACCCCCCACCTGCACC CTGGACTCCCCTCCCCCGCACCCTGGACTCCCCTCCCCCGCACCCCCCAC CTGCACCCTGGACTCCCCTCCCCCACGCCCCCCACCTGCACCCTGGACTC CCCTCCCCCACGCCCCCCACCTGCACCCTGGACTCCCCTCCCCCGTGCCC CCCACCTGCACCCTGGACTCCCCTCCCCCGCGCCCCCCACCTGCACCCTG GACTCCCCTCCCCCGCACCCCCCACCTGCACCCTGGACTCCCCTCCCCCG CACCCCCCACCTGCACCC	CELSR1	ENSG00000075275.18	transcript	ENST00000674500.2	protein_coding	1/34			chr22	TogoVar
CENPJ_chr13_24877279_24927861	24881874	C C	CTATATAG others(435): Show CTATATAGATATATAGATGCATCTATATAGATATATAATCTATATAGATA TATAATCTATATAGATATATAGATACATCTATATAGATATATAGATACAT CTATATAGATATATAGATACATCTATATAGATACATCTATATATAGATAC ATCTATATATAGATACATCTATATATAGATACATCTATATATAGATACAT CTATATATAGATACATCTATATATAGATACATCTATATATAGATACATCT ATATATAGATACATCTATATATAGATACATCTATATATAGATACATCTAT ATATAGATACATCTATATATAGATACATCTATATATAGATACATCTATAT ATAGATACATCTATATATAGATACATCTATATATAGATACATCTATATAT AGATACATCTATATATAGATACATCTATATATAGATACATCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0008 a0001c0004t0001g0008	1	440	0.0023	442	c.13 others(453): Show c.1302_*1303insTAGATGTATCTATATATAGATGTATCTATATATA GATGTATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGA TGTATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATG TATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATGTA TCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATGTATC TATATATAGATGTATCTATATATAGATGTATCTATATATAGATGTATCTA TATATAGATGTATCTATATATAGATGTATCTATATAGATGTATCTATATA TCTATATAGATGTATCTATATATCTATATAGATGTATCTATATATCTATA TAGATTATATATCTATATAGATTATATATCTATATAGATGCATCTATATA TCTATATA	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		404		chr13	TogoVar
CENPM_chr22_41933737_41952152	41939896	A A	AAGAAAGA others(435): Show AAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAA GAAAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAA GAAAGAAAGAAAGAGAAAGAAAGAGAAAGAAAGAGAAAGAAAGAGAAAGA AAAAGAAAGAGAAAGAAAGAAAGAGAAAGAAAGAAAGAGAAAGAAAGAAA GAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAA GAAAGAAAGAAAGAAAGAGAAAGAAAGAGAAAGAAAGAGAAAGAAAGAAA GAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAA GAAAGAAAAGGAAAGAAAGAAAGAGAAAGAAAGAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0149 a0001c0002t0002g0149	1	258	0.0039	442	c.403 others(457): Show c.403-701_403-700insCTTTCTTTCTCTTTCTTTCTCTTTCTTTCT TTCCTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTT CTTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCT TTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTCTTTCTTTCTCTTT CTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCT TTCTTTCTTTCTCTTTCTTTCTTTCTCTTTCTTTCTTTCTCTTTCTTTCT TTCTCTTTCTTTTTCTTTCTCTTTCTTTCTCTTTCTTTCTCTTTCTTTCT CTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCT TTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTT CTCTTTCTTTCT	CENPM	ENSG00000100162.15	transcript	ENST00000215980.10	protein_coding	5/5			chr22	TogoVar
CENPM_chr22_41933737_41952152	41939896	A A	AAGAAAGA others(435): Show AAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAA GAAAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAA GAAAGAAAGAAAGAGAAAGAAAGAGAAAGAAAGAGAAAGAAAGAGAAAGA AAGAGAAAGAAAGAGAAAGAAAGAAAGAGAAAGAAAGAAAGAGAAAGAAA GAAAGAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAAA GAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAGAAAGAAAGAGAAAGAAA GAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAA GAAAGAAAAGGAAAGAAAGAAAGAGAAAGAAAGAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0160 a0001c0002t0002g0160	1	258	0.0039	442	c.403 others(457): Show c.403-701_403-700insCTTTCTTTCTCTTTCTTTCTCTTTCTTTCT TTCCTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTT CTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTCTTTCTTTCTCTTTCTTT CTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCT TTCTTTCTCTTTCTTTCTTTCTCTTTCTTTCTTTCTCTTTCTTTCTTTCT CTTTCTTTCTCTTTCTTTCTCTTTCTTTCTCTTTCTTTCTCTTTCTTTCT CTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCT TTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTT CTCTTTCTTTCT	CENPM	ENSG00000100162.15	transcript	ENST00000215980.10	protein_coding	5/5			chr22	TogoVar
CENPM_chr22_41933737_41952152	41939896	A A	AAGAAAGA others(435): Show AAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAA GAAAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAA GAAAGAAAGAAAGAGAAAGAAAGAGAAAGAAAGAGAAAGAAAGAGAAAGA AAGAGAAAGAAAGAGAAAGAAAGAAAGAGAAAGAAAGAAAGAGAAAGAAA GAAAGAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAAA GAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAGAAAGAAAGAGAAAGAAA GAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAA GAAAGAAAGAAAAGGAAAGAAAGAAAAAGAAAGAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0164 a0001c0002t0002g0164	1	258	0.0039	442	c.403 others(457): Show c.403-701_403-700insCTTTCTTTCTCTTTCTTTTTCTTTCTTTCC TTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTT CTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTCTTTCTTTCTCTTTCTTT CTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCT TTCTTTCTCTTTCTTTCTTTCTCTTTCTTTCTTTCTCTTTCTTTCTTTCT CTTTCTTTCTCTTTCTTTCTCTTTCTTTCTCTTTCTTTCTCTTTCTTTCT CTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCT TTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTT CTCTTTCTTTCT	CENPM	ENSG00000100162.15	transcript	ENST00000215980.10	protein_coding	5/5			chr22	TogoVar
CENPM_chr22_41933737_41952152	41939896	A A	AAGAAAGA others(435): Show AAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAA GAAAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAA GAAAGAAAGAAAGAGAAAGAAAGAGAAAGAAAGAGAAAGAAAGAGAAAGA AAGAGAAAGAAAGAGAAAGAAAGAAAGAGAAAGAAAGAAAGAGAAAGAAA GAAAGAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAAA GAAAGAAAGAAAGAAAGAGAAAGAAAGAGAAAGAAAGAGAAAGAAAGAAA GAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAA GAAAGAAAAGGAAAGAAAGAAAGAGAAAGAAAGAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp1 HG03490.hp2 HG03492.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0014 a0001c0002t0002g0014	2	258	0.0078	442	c.403 others(457): Show c.403-701_403-700insCTTTCTTTCTCTTTCTTTCTCTTTCTTTCT TTCCTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTT CTTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCT TTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTCTTTCTTTCTCTTT CTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCT TTCTTTCTCTTTCTTTCTTTCTCTTTCTTTCTTTCTCTTTCTTTCTTTCT CTTTCTTTCTCTTTCTTTCTCTTTCTTTCTCTTTCTTTCTCTTTCTTTCT CTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCT TTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTT CTCTTTCTTTCT	CENPM	ENSG00000100162.15	transcript	ENST00000215980.10	protein_coding	5/5			chr22	TogoVar
CENPM_chr22_41933737_41952152	41939896	A A	AAGAAAGA others(435): Show AAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAA GAAAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAA GAAAGAAAGAGAAAGAAAGAGAAAGAAAGAGAAAGAAAGAGAAAGAAAGA GAAAGAAAGAGAAAGAAAGAAAGAGAAAGAAAGAAAGAGAAAGAAAGAAA GAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAA GAAAGAAAGAAAGAAAGAGAAAGAAAGAGAAAGAAAGAGAAAGAAAGAAA GAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAA GAAAGAAAAGGAAAGAAAGAAAGAGAAAGAAAGAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0148 a0001c0002t0002g0148	1	258	0.0039	442	c.403 others(457): Show c.403-701_403-700insCTTTCTTTCTCTTTCTTTCTCTTTCTTTCT TTCCTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTT CTTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCT TTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTCTTTCTTTCTCTTT CTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCT TTCTTTCTTTCTCTTTCTTTCTTTCTCTTTCTTTCTTTCTCTTTCTTTCT TTCTCTTTCTTTCTCTTTCTTTCTCTTTCTTTCTCTTTCTTTCTCTTTCT TTCTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCT TTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTT CTCTTTCTTTCT	CENPM	ENSG00000100162.15	transcript	ENST00000215980.10	protein_coding	5/5			chr22	TogoVar
CFAP61_chr20_20047532_20365698	20296130	C C	CCTTCCCT others(435): Show CCTTCCCTTCCTTCCTTCTCTCCTTCCTTCCTTCCCTCCCTCCTTCCCTT CCTTCCTTCTCTCCTTCCTTCCCTTCCTTCCTTCTCTCCTTCCTTCCCTT CCTTCCTTCTCTCCTTCCTTCCCTTCCTTCCTTCTCTCCTTCCTTCCCTT CCTTCCTTCTCTCCTTCCTTCCCTTCCTTCCTTCTCTCCTTCCTTCCCTT CCTTCCTTCTCTCCTTCCTTCCCTTCCTTCCTTCTCTCCTTCCTTCCCTT CCTTCCTTCTCTCCTTCCTTCCCTTGCTTCCTTTCTTCCTTCCTTTGCTT CCTTGCTTCCTTCTTTCCTTTCTTCATCCCTCCCTCCCTCCTTCCTTCCT TTCCTTCCTTCCCTCTATCCTTCCTTCCTTCCTTTCTTTCTCCCTCCCTT CCTTCCCTTCCTTCCTTCCCTCTTTTCCTTCCATCTTTCCTTT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG06807.hp2 HG03098.hp1 HG06807.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0022 a0001c0001 a0002c0022	a0001c0001t0003 a0002c0022t0002 a0001c0001t0003 a0002c0022t0002	a0001c0001t0003g0127 a0002c0022t0002g0049 a0001c0001t0003g0127 a0002c0022t0002g0049	2	236	0.0085	442	c.321 others(461): Show c.3217-2046_3217-2045insCTTCCTTCCTTCTCTCCTTCCTTCCT TCCCTCCCTCCTTCCCTTCCTTCCTTCTCTCCTTCCTTCCCTTCCTTCCT TCTCTCCTTCCTTCCCTTCCTTCCTTCTCTCCTTCCTTCCCTTCCTTCCT TCTCTCCTTCCTTCCCTTCCTTCCTTCTCTCCTTCCTTCCCTTCCTTCCT TCTCTCCTTCCTTCCCTTCCTTCCTTCTCTCCTTCCTTCCCTTCCTTCCT TCTCTCCTTCCTTCCCTTCCTTCCTTCTCTCCTTCCTTCCCTTGCTTCCT TTCTTCCTTCCTTTGCTTCCTTGCTTCCTTCTTTCCTTTCTTCATCCCTC CCTCCCTCCTTCCTTCCTTTCCTTCCTTCCCTCTATCCTTCCTTCCTTCC TTTCTTTCTCCCTCCCTTCCTTCCCTTCCTTCCTTCCCTCTTTTCCTTCC ATCTTTCCTTTCTTCC	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	24/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CHODL_chr21_18239833_18272370	18251516	A A	AAAATAAA others(435): Show AAAATAAATATTTATTTTATATATAAAATAAATATTTATTTTAATATATA AAATAAATATTTATTTAATATATAAAATAAATATTTATTTTAATATTAAA ATAAATATTTATTTTATATATAAAATAAATATTTATTTAATATATAAAAT AAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAAT ATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAAT ATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAAT ATTTATTTTAATATATAAAATAAATATTTATTTTAATATATTAAAATAAA TATTTATTTTATTTATTTATTTTAATATATAAAATATTTTATTTATTTAT TTTAATATATAAAATATTTATTTTATTTATTATTTTAATATAT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	402	0.0025	442	c.80- others(457): Show c.80-4988_80-4987insAATATTTATTTTATATATAAAATAAATATT TATTTTAATATATAAAATAAATATTTATTTAATATATAAAATAAATATTT ATTTTAATATTAAAATAAATATTTATTTTATATATAAAATAAATATTTAT TTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATT TTAATATATAAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATTAAAATAAATATTTATTTTATTTATTTATTTTAATATATAAAATA TTTTATTTATTTATTTTAATATATAAAATATTTATTTTATTTATTATTTT AATATATAAATA	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
CIP2A_chr3_108544864_108594438	108575520	A A	ATATATAC others(435): Show ATATATACACGTATATATACTCATATACATGTGTGTATATACACGTATAT ATACTCATATACATGTGTGTATATACACGTATATATACTCATATACATGT GTGTATATACACGTATATATACTCATATACATGTGTGTATATACACGTAT ATATACTCATATACATGTGTGTATATACACGTATATATACTCATATACAT GTGTGTATATACACGTATATATACTCATATACATGTGTGTATATACACGT ATATATACTCATATACATGTGTGTATATACACGTATATATACTCATATAC ATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATATACAC GTATATATACTCATATACATGTGTGTATATACACGTATATATACTCATAT ACATGTGTGTATATACACGTATATATACTCATATACATGTGTG	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0192 a0001c0001t0002g0192	1	372	0.0027	442	c.894 others(457): Show c.894+750_894+751insCACACATGTATATGAGTATATATACGTGTA TATACACACATGTATATGAGTATATATACGTGTATATACACACATGTATA TGAGTATATATACGTGTATATACACACATGTATATGAGTATATATACGTG TATATACACACATGTATATGAGTATATATACGTGTATATACACACATGTA TATGAGTATATATACGTGTATATACACACATGTATATGAGTATATATACG TGTATATACACACATGTATATGAGTATATATACGTGTATATACACACATG TATATGAGTATATATACGTGTATATACACACATGTATATGAGTATATATA CGTGTATATACACACATGTATATGAGTATATATACGTGTATATACACACA TGTATATGAGTATATATACGTGTATATACACACATGTATATGAGTATATA TACGTGTATATA	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar
CIP2A_chr3_108544864_108594438	108575525	T T	TACACGTA others(435): Show TACACGTATATATACTCATATACATGTGTATATACACACGTATATATACT CATATACATGTGTATATACACACGTATATATACTCATATACATGTGTATA TACACACGTATATATACTCATATACATGTGTATATACACACGTATATATA CTCATATACATGTGTATATACACACGTATATATACTCATATACATGTGTA TATACACACGTATATATACTCATATACATGTGTATATACACACGTATATA TACTCATATACATGTGTATATACACACGTATATATACTCATATACATGTG TATATACACACGTATATATACTCATATACATGTGTATATACACACGTATA TATACTCATATACATGTGTATATACACACGTATATATACTCATATACATG TGTATATACACACGTATATATACTCATATACATGTGTATATAC	intron_variant intron_variant	MODIFIER	HG03516.hp1 NA20129.hp1 HG03516.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0146 a0001c0001t0001g0147	2	372	0.0054	442	c.894 others(457): Show c.894+745_894+746insGTATATACACATGTATATGAGTATATATAC GTGTGTATATACACATGTATATGAGTATATATACGTGTGTATATACACAT GTATATGAGTATATATACGTGTGTATATACACATGTATATGAGTATATAT ACGTGTGTATATACACATGTATATGAGTATATATACGTGTGTATATACAC ATGTATATGAGTATATATACGTGTGTATATACACATGTATATGAGTATAT ATACGTGTGTATATACACATGTATATGAGTATATATACGTGTGTATATAC ACATGTATATGAGTATATATACGTGTGTATATACACATGTATATGAGTAT ATATACGTGTGTATATACACATGTATATGAGTATATATACGTGTGTATAT ACACATGTATATGAGTATATATACGTGTGTATATACACATGTATATGAGT ATATATACGTGT	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar
CIP2A_chr3_108544864_108594438	108575529	C C	CGTATATA others(435): Show CGTATATATACTCATATACATGTGTATATATACACGTATATATACTCATA TACATGTGTATATATACACGTATATATACTCATATACATGTGTATATATA CACGTATATATACTCATATACATGTGTATATATACACGTATATATACTCA TATACATGTGTATATATACACGTATATATACTCATATACATGTGTATATA TACACGTATATATACTCATATACATGTGTATATATACACGTATATATACT CATATACATGTGTATATATACACGTATATATACTCATATACATGTGTATA TATACACGTATATATACTCATATACATGTGTATATATACACGTATATATA CTCATATACATGTGTATATATACGTGTATATATACTCATATACATGTGTA TATATACGTGTATATATACTCATATACATGTGTATATATACGT	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	372	0.0027	442	c.894 others(457): Show c.894+741_894+742insACGTATATATACACATGTATATGAGTATAT ATACACGTATATATACACATGTATATGAGTATATATACACGTATATATAC ACATGTATATGAGTATATATACGTGTATATATACACATGTATATGAGTAT ATATACGTGTATATATACACATGTATATGAGTATATATACGTGTATATAT ACACATGTATATGAGTATATATACGTGTATATATACACATGTATATGAGT ATATATACGTGTATATATACACATGTATATGAGTATATATACGTGTATAT ATACACATGTATATGAGTATATATACGTGTATATATACACATGTATATGA GTATATATACGTGTATATATACACATGTATATGAGTATATATACGTGTAT ATATACACATGTATATGAGTATATATACGTGTATATATACACATGTATAT GAGTATATATAC	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar
CIP2A_chr3_108544864_108594438	108575529	C C	CGTATATA others(435): Show CGTATATATACTCATATACATGTGTATATATACACGTATATATACTCATA TACATGTGTATATATACACGTATATATACTCATATACATGTGTATATATA CACGTATATATACTCATATACATGTGTATATATACACGTATATATACTCA TATACATGTGTATATATACACGTATATATACTCATATACATGTGTATATA TACACGTATATATACTCATATACATGTGTATATATACACGTATATATACT CATATACATGTGTATATATACACGTATATATACTCATATACATGTGTATA TATACACGTATATATACTCATATACATGTGTATATATACGTGTATATATA CTCATATACATGTGTATATATACGTGTATATATACTCATATACATGTGTA TATATACGTGTATATATACTCATATACATGTGTATATATACGT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	372	0.0027	442	c.894 others(457): Show c.894+741_894+742insACGTATATATACACATGTATATGAGTATAT ATACACGTATATATACACATGTATATGAGTATATATACACGTATATATAC ACATGTATATGAGTATATATACACGTATATATACACATGTATATGAGTAT ATATACGTGTATATATACACATGTATATGAGTATATATACGTGTATATAT ACACATGTATATGAGTATATATACGTGTATATATACACATGTATATGAGT ATATATACGTGTATATATACACATGTATATGAGTATATATACGTGTATAT ATACACATGTATATGAGTATATATACGTGTATATATACACATGTATATGA GTATATATACGTGTATATATACACATGTATATGAGTATATATACGTGTAT ATATACACATGTATATGAGTATATATACGTGTATATATACACATGTATAT GAGTATATATAC	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar
CIP2A_chr3_108544864_108594438	108575529	C C	CGTATATA others(435): Show CGTATATATACTCATATACATGTGTATATATACACGTATATATACTCATA TACATGTGTATATATACACGTATATATACTCATATACATGTGTATATATA CACGTATATATACTCATATACATGTGTATATATACACGTATATATACTCA TATACATGTGTATATATACACGTATATATACTCATATACATGTGTATATA TACACGTATATATACTCATATACATGTGTATATATACACGTATATATACT CATATACATGTGTATATATACACGTATATATACTCATATACATGTGTATA TATACGTGTATATATACTCATATACATGTGTATATATACGTGTATATATA CTCATATACATGTGTATATATACGTGTATATATACTCATATACATGTGTA TATATACGTGTATATATACTCATATACATGTGTATATATACGT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01515.hp1 NA18957.hp2 HG00741.hp1 HG01515.hp1 NA18957.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0092 a0001c0001t0001g0093 a0002c0002t0001g0050 a0001c0001t0001g0092 a0001c0001t0001g0093 a0002c0002t0001g0050	3	372	0.0081	442	c.894 others(457): Show c.894+741_894+742insACGTATATATACACATGTATATGAGTATAT ATACACGTATATATACACATGTATATGAGTATATATACACGTATATATAC ACATGTATATGAGTATATATACACGTATATATACACATGTATATGAGTAT ATATACACGTATATATACACATGTATATGAGTATATATACGTGTATATAT ACACATGTATATGAGTATATATACGTGTATATATACACATGTATATGAGT ATATATACGTGTATATATACACATGTATATGAGTATATATACGTGTATAT ATACACATGTATATGAGTATATATACGTGTATATATACACATGTATATGA GTATATATACGTGTATATATACACATGTATATGAGTATATATACGTGTAT ATATACACATGTATATGAGTATATATACGTGTATATATACACATGTATAT GAGTATATATAC	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar
CIP2A_chr3_108544864_108594438	108575529	C C	CGTATATA others(435): Show CGTATATATACTCATATACATGTGTATATATACACGTATATATACTCATA TACATGTGTATATATACACGTATATATACTCATATACATGTGTATATATA CACGTATATATACTCATATACATGTGTATATATACACGTATATATACTCA TATACATGTGTATATATACACGTATATATACTCATATACATGTGTATATA TACACGTATATATACTCATATACATGTGTATATATACACGTATATATACT CATATACATGTGTATATATACGTGTATATATACTCATATACATGTGTATA TATACGTGTATATATACTCATATACATGTGTATATATACGTGTATATATA CTCATATACATGTGTATATATACGTGTATATATACTCATATACATGTGTA TATATACGTGTATATATACTCATATACATGTGTATATATACGT	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18994.hp1 NA19090.hp2 NA18956.hp2 NA18994.hp1 NA19090.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0028 a0002c0002t0001g0062 a0002c0002t0001g0131 a0002c0002t0001g0028 a0002c0002t0001g0062 a0002c0002t0001g0131	3	372	0.0081	442	c.894 others(457): Show c.894+741_894+742insACGTATATATACACATGTATATGAGTATAT ATACACGTATATATACACATGTATATGAGTATATATACACGTATATATAC ACATGTATATGAGTATATATACACGTATATATACACATGTATATGAGTAT ATATACACGTATATATACACATGTATATGAGTATATATACACGTATATAT ACACATGTATATGAGTATATATACGTGTATATATACACATGTATATGAGT ATATATACGTGTATATATACACATGTATATGAGTATATATACGTGTATAT ATACACATGTATATGAGTATATATACGTGTATATATACACATGTATATGA GTATATATACGTGTATATATACACATGTATATGAGTATATATACGTGTAT ATATACACATGTATATGAGTATATATACGTGTATATATACACATGTATAT GAGTATATATAC	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar
CIP2A_chr3_108544864_108594438	108575529	C C	CGTATATA others(435): Show CGTATATATACTCATATACATGTGTATATATACACGTATATATACTCATA TACATGTGTATATATACACGTATATATACTCATATACATGTGTATATATA CACGTATATATACTCATATACATGTGTATATATACACGTATATATACTCA TATACATGTGTATATATACACGTATATATACTCATATACATGTGTATATA TACACGTATATATACTCATATACATGTGTATATATACGTGTATATATACT CATATACATGTGTATATATACGTGTATATATACTCATATACATGTGTATA TATACGTGTATATATACTCATATACATGTGTATATATACGTGTATATATA CTCATATACATGTGTATATATACGTGTATATATACTCATATACATGTGTA TATATACGTGTATATATACTCATATACATGTGTATATATACGT	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG04115.hp1 NA18972.hp1 others(1): Show HG02040.hp1 HG04115.hp1 NA18972.hp1 NA18987.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0059 others(1): Show a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0083	4	372	0.0108	442	c.894 others(457): Show c.894+741_894+742insACGTATATATACACATGTATATGAGTATAT ATACACGTATATATACACATGTATATGAGTATATATACACGTATATATAC ACATGTATATGAGTATATATACACGTATATATACACATGTATATGAGTAT ATATACACGTATATATACACATGTATATGAGTATATATACACGTATATAT ACACATGTATATGAGTATATATACACGTATATATACACATGTATATGAGT ATATATACGTGTATATATACACATGTATATGAGTATATATACGTGTATAT ATACACATGTATATGAGTATATATACGTGTATATATACACATGTATATGA GTATATATACGTGTATATATACACATGTATATGAGTATATATACGTGTAT ATATACACATGTATATGAGTATATATACGTGTATATATACACATGTATAT GAGTATATATAC	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar
CIP2A_chr3_108544864_108594438	108575529	C C	CGTATATA others(435): Show CGTATATATACTCATATACATGTGTATATATACACGTATATATACTCATA TACATGTGTATATATACACGTATATATACTCATATACATGTGTATATATA CACGTATATATACTCATATACATGTGTATATATACACGTATATATACTCA TATACATGTGTATATATACACGTATATATACTCATATACATGTGTATATA TACGTGTATATATACTCATATACATGTGTATATATACGTGTATATATACT CATATACATGTGTATATATACGTGTATATATACTCATATACATGTGTATA TATACGTGTATATATACTCATATACATGTGTATATATACGTGTATATATA CTCATATACATGTGTATATATACGTGTATATATACTCATATACATGTGTA TATATACGTGTATATATACTCATATACATGTGTATATATACGT	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18995.hp2 NA19060.hp2 NA18965.hp2 NA18995.hp2 NA19060.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0026 a0002c0002t0001g0055 a0002c0002t0001g0087 a0002c0002t0001g0026 a0002c0002t0001g0055 a0002c0002t0001g0087	3	372	0.0081	442	c.894 others(457): Show c.894+741_894+742insACGTATATATACACATGTATATGAGTATAT ATACACGTATATATACACATGTATATGAGTATATATACACGTATATATAC ACATGTATATGAGTATATATACACGTATATATACACATGTATATGAGTAT ATATACACGTATATATACACATGTATATGAGTATATATACACGTATATAT ACACATGTATATGAGTATATATACACGTATATATACACATGTATATGAGT ATATATACACGTATATATACACATGTATATGAGTATATATACGTGTATAT ATACACATGTATATGAGTATATATACGTGTATATATACACATGTATATGA GTATATATACGTGTATATATACACATGTATATGAGTATATATACGTGTAT ATATACACATGTATATGAGTATATATACGTGTATATATACACATGTATAT GAGTATATATAC	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar
CIP2A_chr3_108544864_108594438	108575529	C C	CGTATATA others(435): Show CGTATATATACTCATATACATGTGTGTATATACACGTATATATACTCATA TACATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATATA CACGTATATATACTCATATACATGTGTGTATATACACGTATATATACTCA TATACATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATA TACACGTATATATACTCATATACATGTGTGTATATACACGTATATATACT CATATACATGTGTGTATATACACGTATATATACTCATATACATGTGTGTA TATACACGTATATATACTCATATACATGTGTGTATATACACGTATATATA CTCATATACATGTGTGTATATACACGTATATATACTCATATACATGTGTG TATATACGTGTATATATACTCATATACATGTGTGTATATACGT	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0163 a0001c0001t0002g0163	1	372	0.0027	442	c.894 others(457): Show c.894+741_894+742insACGTATATACACACATGTATATGAGTATAT ATACACGTATATACACACATGTATATGAGTATATATACGTGTATATACAC ACATGTATATGAGTATATATACGTGTATATACACACATGTATATGAGTAT ATATACGTGTATATACACACATGTATATGAGTATATATACGTGTATATAC ACACATGTATATGAGTATATATACGTGTATATACACACATGTATATGAGT ATATATACGTGTATATACACACATGTATATGAGTATATATACGTGTATAT ACACACATGTATATGAGTATATATACGTGTATATACACACATGTATATGA GTATATATACGTGTATATACACACATGTATATGAGTATATATACGTGTAT ATACACACATGTATATGAGTATATATACGTGTATATACACACATGTATAT GAGTATATATAC	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar
CNOT3_chr19_54132762_54160681	54133793	T T	TCTCTCTC others(435): Show TCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCC ACCCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTC CCTCTCTCCACCTCCCCTCTCTCTTCCTCCCTCTCTCCACCTTCCCTGTC TCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTC TCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCC CCTCTCTCTCTTCCTCCTCTCCACCTCCCCTCTCTCCCTCCCTCTCTCCA CCTCCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTC CCCTCTCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTGTCCCTCCC TCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0002 a0001c0005t0004g0002	1	223	0.0045	442	c.-42 others(453): Show c.-4251_-4250insCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTC TCTTCCTCCCTCTCCACCCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTC CCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTTCCTCCCTCTC TCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCA CCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCC TCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCTCTCCACCTCCCCTCTCT CCCTCCCTCTCTCCACCTCCCCTGTCTCCACCTCCCCTCCCTCTGTCCCT CCCTCTCTCCACCTCCCCTCTCTCTGTCCCTCCCTCTCTCCACCTCCCCT CTCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTC CACCTCCC	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		3968		chr19	TogoVar
COL17A1_chr10_104026286_104090880	104036081	T T	TGTGTGTA others(435): Show TGTGTGTATGGGAGTGTGTGTATATGTGTGTGTATGGGAGTGTGTGTGTC TATGGGAGTGTATGGGAGTGAGTGTGAGTGGGAGTGTGCGTATGGGTGTG TGTATGGGAGTGTGAGTATGGGTGTGTGTATGGGAGAGTGTGTGTGTATG GGAGTGTATGGGGTGTGTGTATGACTGTGTATGGGTGTGTGTGTATGGGA GTGTGTGTATGGGAGTGTGAGTATGGATGTGTGTATGGGTGTATGGGAGT GAGTGTGTGTATGGGAGTGTATGGGTGTGTGTGTATGGGAGTGAGTGTGA GTATGGGTTGTGTATGGGAGTGTGTATGGGAGTGTATGGGTGTGTGTGTA TGGGAGTGTGAGTATGGGTGTGTGTATGGGAGTATGGGAGTGTGAGTATG GGTGTGTGTGTATGGGAGTGAGTGTGTGTGTATGGGAGTGTGA	intron_variant intron_variant	MODIFIER	HG00558.hp2 NA18966.hp1 NA18992.hp2 others(3): Show HG00558.hp2 NA18966.hp1 NA18992.hp2 NA19003.hp2 NA19009.hp1 NA19063.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0005 a0005c0005t0001g0020 a0005c0005t0001g0204 a0005c0005t0001g0005 a0005c0005t0001g0020 a0005c0005t0001g0204	6	336	0.0179	442	c.341 others(459): Show c.3418+410_3418+411insTCACACTCCCATACACACACACTCACTC CCATACACACACACCCATACTCACACTCCCATACTCCCATACACACACCC ATACTCACACTCCCATACACACACACCCATACACTCCCATACACACTCCC ATACACAACCCATACTCACACTCACTCCCATACACACACACCCATACACT CCCATACACACACTCACTCCCATACACCCATACACACATCCATACTCACA CTCCCATACACACACTCCCATACACACACACCCATACACAGTCATACACA CACCCCATACACTCCCATACACACACACTCTCCCATACACACACCCATAC TCACACTCCCATACACACACCCATACGCACACTCCCACTCACACTCACTC CCATACACTCCCATAGACACACACACTCCCATACACACACATATACACAC ACTCCCATACACAC	COL17A1	ENSG00000065618.21	transcript	ENST00000648076.2	protein_coding	48/55			chr10	TogoVar
COL4A1_chr13_110143963_110312157	110255703	G G	GAGGAAGG others(435): Show GAGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGG AAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGCAGGCAGGAAGGGAGGGGG AAGGCAGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGCAGGCAGGAAG GGAGGGGGCAGGCAGGCAGGAAGGGAAGGGGGCAGGCAGGAAGGGAGGGG GCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAAGAA GGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAA GGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGG AGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGC AGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAA	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	344	0.0029	442	c.85- others(459): Show c.85-12970_85-12969insTTCCTGCCTTCCCCCTCCCTTCCTGCCT TTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCT TCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCC CCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCC TGCCTTCCCCCTCCCTTCTTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCT TCCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTGCCCCCTTCCCTTCCTGC CTGCCTGCCCCCTCCCTTCCTGCCTGCCCCCTTCCCTTCCTGCCTGCCCC CTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTGCCCCCTTCCCTTCCTG CCTGCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTCC CTTCCTGCCTTCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COLEC11_chr2_3590112_3649644	3592266	G G	GTAGAGGT others(435): Show GTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGT AGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAG AGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAG GTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGT AGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAG AGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAG GTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGT AGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAG AGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0001 a0003c0009t0001	a0003c0009t0001g0356 a0003c0009t0001g0356	1	378	0.0027	442	c.-29 others(453): Show c.-2929_-2928insTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGA GGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGG TAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTA GAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGA GGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGG TAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTA GAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGA GGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGG TAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTA GAGGTAGA	COLEC11	ENSG00000118004.18	transcript	ENST00000349077.9	protein_coding		2845		chr2	TogoVar
CPNE7_chr16_89570758_89602246	89597938	C C	CCCCCGCC others(435): Show CCCCCGCCCCACCCATCCGTCCACCCATCCCCCCGCCCACCCATCTGTCC ACCCATCCGTCCATCCATCCCCCACCCACCCATCTGTACCACCCATCCCC CCGCCCCACCCATCCGTCCACCCACCCATCTGTCCACCCATCTGTCCACC CATCCGTCCACCCATCCATCCACCCATCCCCCCACCCACCCATCCATCCA TCCCCCCACCCACCCATCCATCCACCCATCCCCCCACCCACCCATCTGTC CACCCATCCCCCCACCCACCCGTCCGTCCATCCATCCCCCCCACCCACCC ATCCATCCACCCATCCCCCCACCCACCCATCTGTCCACACCATCTGTCCA CCCATTCCGTCCACCCATCCCCCCACCCATCCGTCCACCCATCCGTCCAC TCACCCATCCGTCCACTCACCCATCTGTCCACCCATTCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0142 a0001c0001t0012g0142	1	348	0.0029	442	c.13 others(453): Show c.1317_*1318insCCCCGCCCCACCCATCCGTCCACCCATCCCCCCG CCCACCCATCTGTCCACCCATCCGTCCATCCATCCCCCACCCACCCATCT GTACCACCCATCCCCCCGCCCCACCCATCCGTCCACCCACCCATCTGTCC ACCCATCTGTCCACCCATCCGTCCACCCATCCATCCACCCATCCCCCCAC CCACCCATCCATCCATCCCCCCACCCACCCATCCATCCACCCATCCCCCC ACCCACCCATCTGTCCACCCATCCCCCCACCCACCCGTCCGTCCATCCAT CCCCCCCACCCACCCATCCATCCACCCATCCCCCCACCCACCCATCTGTC CACACCATCTGTCCACCCATTCCGTCCACCCATCCCCCCACCCATCCGTC CACCCATCCGTCCACTCACCCATCCGTCCACTCACCCATCTGTCCACCCA TTCCCCCG	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding		693		chr16	TogoVar
CSMD1_chr8_2930361_4999914	3411693	C C	CACGCGTG others(435): Show CACGCGTGTATATATACGTGTATATATACGCGTGTATATATACACATATA TATACATATATACACGTGTATATATACACGTGTATATACATGTGTATATA TACGTATATATACGTGTGTATATATACGTATATATATACGTGTGCATATA TACGTATATATATACGTGTGCATATATACGTATATATATACGTGTGCATA TATACGTATATATATACGTGTGCATATATACGTATATATATACGTGTGCA TATATACGTATATATATACGTGTGCATATATACGTATATATATACGTGTG CATATATACGTATATATATACGTGTGCATATATATATACGTATATATATA TACGTGTATGTATACGTATATATACGTATATATACACACGTATATATACA CGTATATATACGTATATATACACGTATATATATACGTATATAT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0021 a0021	a0021c0038 a0021c0038	a0021c0038t0075 a0021c0038t0075	a0021c0038t0075g0067 a0021c0038t0075g0067	1	126	0.0079	442	c.156 others(461): Show c.1562-2089_1562-2088insATATATACGTATATATATACGTGTAT ATATACGTATATATACGTGTATATATACGTGTGTATATATACGTATATAT ACGTATACATACACGTATATATATATACGTATATATATATGCACACGTAT ATATATACGTATATATGCACACGTATATATATACGTATATATGCACACGT ATATATATACGTATATATGCACACGTATATATATACGTATATATGCACAC GTATATATATACGTATATATGCACACGTATATATATACGTATATATGCAC ACGTATATATATACGTATATATGCACACGTATATATATACGTATATATAC ACACGTATATATACGTATATATACACATGTATATACACGTGTATATATAC ACGTGTATATATGTATATATATGTGTATATATACACGCGTATATATACAC GTATATATACACGCGT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	12/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3411693	C C	CACGCGTG others(435): Show CACGCGTGTATATATACGTGTATATATACGCGTGTATATATACACATATA TATACATATATACACGTGTATATATACACGTGTATATACATGTGTATATA TACGTATATATACGTGTGTATATATACGTATATATATACGTGTGTATATA TACGTATATATATACGTGTGCATATATACGTATATATATACGTGTGCATA TATACGTATATATATACGTGTGCATATATACGTATATATATACGTGTGCA TATATACGTATATATATACGTGTGCATATATACGTATATATATACGTGTG CATATATACGTATATATATACGTGTGCATATATATATACGTATATATATA TACGTGTATGTATACGTATATATACGTATATATACACACGTATATATACA CGTATATATACGTATATATACACGTATATATATACGTATATAT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02258.hp2 HG03579.hp1 HG01255.hp1 HG02258.hp2 HG03579.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0115 a0002c0031 a0007c0116 a0001c0115 a0002c0031 a0007c0116	a0001c0115t0042 a0002c0031t0015 a0007c0116t0004 a0001c0115t0042 a0002c0031t0015 a0007c0116t0004	a0001c0115t0042g0055 a0002c0031t0015g0001 a0007c0116t0004g0039 a0001c0115t0042g0055 a0002c0031t0015g0001 a0007c0116t0004g0039	3	126	0.0238	442	c.156 others(461): Show c.1562-2089_1562-2088insATATATACGTATATATATACGTGTAT ATATACGTATATATACGTGTATATATACGTGTGTATATATACGTATATAT ACGTATACATACACGTATATATATATACGTATATATATATGCACACGTAT ATATATACGTATATATGCACACGTATATATATACGTATATATGCACACGT ATATATATACGTATATATGCACACGTATATATATACGTATATATGCACAC GTATATATATACGTATATATGCACACGTATATATATACGTATATATGCAC ACGTATATATATACGTATATATACACACGTATATATATACGTATATATAC ACACGTATATATACGTATATATACACATGTATATACACGTGTATATATAC ACGTGTATATATGTATATATATGTGTATATATACACGCGTATATATACAC GTATATATACACGCGT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	12/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3411693	C C	CACGCGTG others(435): Show CACGCGTGTATATATACGTGTATATATACGCGTGTATATATACACATATA TATACATATATACACGTGTATATATACACGTGTATATACGTGTGTATATA TACGTATATATACGTGTGTATATATACGTATATATATACGTGTGCATATA TACGTATATATATACGTGTGCATATATACGTATATATATACGTGTGCATA TATACGTATATATATACGTGTGCATATATACGTATATATATACGTGTGCA TATATACGTATATATATACGTGTGCATATATACGTATATATATACGTGTG CATATATACGTATATATATACGTGTGCATATATATATACGTATATATATA TACGTGTATGTATACGTATATATACGTATATATACACACGTATATATACA CGTATATATACGTATATATACACGTATATATATACGTATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0018 a0018	a0018c0042 a0018c0042	a0018c0042t0004 a0018c0042t0004	a0018c0042t0004g0004 a0018c0042t0004g0004	1	126	0.0079	442	c.156 others(461): Show c.1562-2089_1562-2088insATATATACGTATATATATACGTGTAT ATATACGTATATATACGTGTATATATACGTGTGTATATATACGTATATAT ACGTATACATACACGTATATATATATACGTATATATATATGCACACGTAT ATATATACGTATATATGCACACGTATATATATACGTATATATGCACACGT ATATATATACGTATATATGCACACGTATATATATACGTATATATGCACAC GTATATATATACGTATATATGCACACGTATATATATACGTATATATGCAC ACGTATATATATACGTATATATGCACACGTATATATATACGTATATATAC ACACGTATATATACGTATATATACACACGTATATACACGTGTATATATAC ACGTGTATATATGTATATATATGTGTATATATACACGCGTATATATACAC GTATATATACACGCGT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	12/69			chr8	TogoVar
DECR2_chr16_396885_417482	397652	C C	CGGGGTGG others(435): Show CGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGGGGGGGG TGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGG GGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGG TGAGGGAGTCGGGGAGTGGGGGGTGGGGGTGGAGGGGTGGGGGGGTGAGG GAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGT GGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	367	0.0027	442	c.-43 others(453): Show c.-4312_-4311insGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTG GGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGG GAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCG GGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGT GGGGGTGTGGGGGGGTGAGGGAGTCGGGGAGTGGGGGGTGGGGGTGGAGG GGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTG AGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAG GGAGTCGG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4232		chr16	TogoVar
DGAT1_chr8_144309584_144331852	144313788	G G	GCGCCGCC others(435): Show GCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCGCCGCCTCCCCGCCTCC CCGCGCCGCCTCCCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCG CGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCC CGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTC CCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCC TCCCCGCCTCCCCGCCTCCCCGCCTCCCCGCCTCCCCGCCTCCCCGCCTC CCCGCCTCCCCGCCTCCCCGCCTCCCCGCCTCCCCGCCTCCCCGCCTCCC CGCCTCCCCGCCTCCCCGCCTCCCCGCCTCCCCGCCTCCCCGCCTCCCCG CCTCCCCGCCTCCCCGCCTCCCCGCCTCCCCGCCTCCCCGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	370	0.0027	442	c.27 others(453): Show c.2765_*2766insAGGCGGGGAGGCGGGGAGGCGGGGAGGCGGGGAG GCGGGGAGGCGGGGAGGCGGGGAGGCGGGGAGGCGGGGAGGCGGGGAGGC GGGGAGGCGGGGAGGCGGGGAGGCGGGGAGGCGGGGAGGCGGGGAGGCGG GGAGGCGGGGAGGCGGGGAGGCGGGGAGGCGGGGAGGCGGGGAGGCGGGG AGGCGGGGAGGCGGCGCGGGGAGGCGGCGCGGGGAGGCGGCGCGGGGAGG CGGCGCGGGGAGGCGGCGCGGGGAGGCGGCGCGGGGAGGCGGCGCGGGGA GGCGGCGCGGGGAGGCGGCGCGGGGAGGCGGCGCGGGGAGGCGGCGCGGG GAGGCGGCGCGGGGAGGCGGCGCGGGGAGGCGGCGCGGGGAGGCGGGGAG GCGGCGCGGGGAGGCGGGGAGGCGGCGCGGCGCGGGGAGGCGGCGCGGGG AGGCGGCG	DGAT1	ENSG00000185000.12	transcript	ENST00000528718.6	protein_coding		795		chr8	TogoVar
DNAI7_chr12_25103289_25200160	25174520	C C	CATATATA others(435): Show CATATATATCATATATATGGGATATATATATCATATATATCATATATATG GGATATATATATCATATATATCATATATATGGGATATATATATCATATAT ATCATATATATGGGATATATATATCATATATATCATATATATGGGATATA TATATCATATATATCATATATATGGGATATATATATCATATATATCATAT ATATGGGATATATATATCATATATATCATATATATGGGATATATATATCA TATATATCATATATATGGGATATATATGATATATATATCATATATATGGG ATATATATATGATATATATATCATATATATGGGATATATATGATATATAT ATCATATATATGGGATATATATATGATATATATATCATATATATGGGATA TATATATGATATATATATCATATATATGGGATATATATATGAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0001 a0009c0010t0001	a0009c0010t0001g0287 a0009c0010t0001g0287	1	336	0.0030	442	c.22- others(459): Show c.22-13324_22-13323insATCATATATATATCCCATATATATGATA TATATATCATATATATATCCCATATATATGATATATATATCATATATATA TCCCATATATATGATATATATATCATATATATCCCATATATATGATATAT ATATCATATATATATCCCATATATATGATATATATATCATATATATCCCA TATATATGATATATATGATATATATATCCCATATATATGATATATATGAT ATATATATCCCATATATATGATATATATGATATATATATCCCATATATAT GATATATATGATATATATATCCCATATATATGATATATATGATATATATA TCCCATATATATGATATATATGATATATATATCCCATATATATGATATAT ATGATATATATATCCCATATATATGATATATATGATATATATATCCCATA TATATGATATATAT	DNAI7	ENSG00000118307.20	transcript	ENST00000395987.8	protein_coding	2/15			chr12	TogoVar
DNAI7_chr12_25103289_25200160	25174520	C C	CATATATA others(435): Show CATATATATCATATATATGGGATATATATATCATATATATCATATATATG GGATATATATATCATATATATCATATATATGGGATATATATATCATATAT ATCATATATATGGGATATATATATCATATATATCATATATATGGGATATA TATATCATATATATCATATATATGGGATATATATATCATATATATCATAT ATATGGGATATATATATCATATATATCATATATATGGGATATATATATCA TATATATCATATATATGGGATATATATGATATATATATCATATATATGGG ATATATATATGATATATATATCATATATATGGGATATATATGATATATAT ATCATATATATGGGATATATATATGATATATATATCATATATATGGGATA TATATATGATATATATCCCATATATATGGGATATATATATGAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 NA20905.hp2 HG01243.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0018 a0001c0001t0002g0011 a0001c0001t0002g0018	2	336	0.0060	442	c.22- others(459): Show c.22-13324_22-13323insATCATATATATATCCCATATATATGGGA TATATATCATATATATATCCCATATATATGATATATATATCATATATATA TCCCATATATATGATATATATATCATATATATCCCATATATATGATATAT ATATCATATATATATCCCATATATATGATATATATATCATATATATCCCA TATATATGATATATATGATATATATATCCCATATATATGATATATATGAT ATATATATCCCATATATATGATATATATGATATATATATCCCATATATAT GATATATATGATATATATATCCCATATATATGATATATATGATATATATA TCCCATATATATGATATATATGATATATATATCCCATATATATGATATAT ATGATATATATATCCCATATATATGATATATATGATATATATATCCCATA TATATGATATATAT	DNAI7	ENSG00000118307.20	transcript	ENST00000395987.8	protein_coding	2/15			chr12	TogoVar

Search by Variant

Search

Search Results