Joint Open Genome and Omics Platform (JoGo)

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Regionname

ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

Samplehapid

No_hapid

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ARFIP1_chr4_152774954_152917357	152804213	T T	TATATATA others(238): Show TATATATAATATAACATGTATTATATATTATATATAACATAACATGTATT ATATATTATATATAATATAACATGTATTATATATTATATATAATATAACA TGTATTATATATTATATATAATATAACATGTATTATATATTATATATAAT ATAACATGTATTATATATTATATATAATATAACATGTATTATATATTATA TATAATATAACATGTATTATATATAATATAACATGTATTATATATA	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0332 a0001c0001t0002g0332	1	342	0.0029	245	c.-10 others(264): Show c.-10+24014_-10+24015insTATATATAACATAACATGTATTATAT ATTATATATAATATAACATGTATTATATATTATATATAATATAACATGTA TTATATATTATATATAATATAACATGTATTATATATTATATATAATATAA CATGTATTATATATTATATATAATATAACATGTATTATATATTATATATA ATATAACATGTATTATATATAATATAACATGTATTATATATAATATATAA TATAACATGTATTATATAT	ARFIP1	ENSG00000164144.16	transcript	ENST00000353617.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
ARFIP1_chr4_152774954_152917357	152804213	T T	TATATATA others(238): Show TATATATAATATAACATGTATTATATATTATATATAACATAACATGTATT ATATATTATATATAATATAAGATGTATTATATATTATATATAATATAACA TGTATTATATATTATATATAATATAACATGTATTATATATTATATATAAT ATAACATGTATTATATATTATATATAATATAACATGTATTATATATTATA TATAATATAACATGTATTATATATAATATAACATGTATTATATATA	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA19063.hp2 NA19081.hp2 NA18961.hp2 NA19063.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0329 a0001c0001t0002g0330 a0001c0001t0002g0333 a0001c0001t0002g0329 a0001c0001t0002g0330 a0001c0001t0002g0333	3	342	0.0088	245	c.-10 others(264): Show c.-10+24014_-10+24015insTATATATAACATAACATGTATTATAT ATTATATATAATATAAGATGTATTATATATTATATATAATATAACATGTA TTATATATTATATATAATATAACATGTATTATATATTATATATAATATAA CATGTATTATATATTATATATAATATAACATGTATTATATATTATATATA ATATAACATGTATTATATATAATATAACATGTATTATATATAATATATAA TATAACATGTATTATATAT	ARFIP1	ENSG00000164144.16	transcript	ENST00000353617.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
ARFRP1_chr20_63693647_63712976	63693723	A A	ACCTCCAC others(238): Show ACCTCCACCACCACCACCTCCACCACCTCCACTCCACACACACCTCCACC ACCTCACCACCACCACCACACACACCTCCACCACCACCACCACCACCACC TCACCACCTCCACCTCCACCACCACCACCACCACCACCTCCACACCACCT CCAACTCCACCACCTCCACCTCCACCTCCACCACCACCTCCACCACCACC TCCTCCACCTCCACACCTCCACCACCACCCTCCACCACCACCTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	296	0.0034	245	c.67 others(256): Show c.6719_*6720insAGGAGGTGGTGGTGGAGGGTGGTGGTGGAGGTGT GGAGGTGGAGGAGGTGGTGGTGGAGGTGGTGGTGGAGGTGGAGGTGGAGG TGGTGGAGTTGGAGGTGGTGTGGAGGTGGTGGTGGTGGTGGTGGTGGAGG TGGAGGTGGTGAGGTGGTGGTGGTGGTGGTGGTGGAGGTGTGTGTGGTGG TGGTGGTGAGGTGGTGGAGGTGTGTGTGGAGTGGAGGTGGTGGAGGTGGT GGTGGTGGAGG	ARFRP1	ENSG00000101246.20	transcript	ENST00000622789.5	protein_coding		4923		chr20	TogoVar
ARHGAP10_chr4_147727088_148077776	147784805	T T	TATTATAA others(238): Show TATTATAAAATATATATTATAAATATATTATAAAATATATATTATAAATA TATTATAAAATATATATTATAAATATATTATAAAATATATATTATAAATA TATTATAAAATATATATTATAAATATATTATAAAATATATATTATAAATA TATTATAAAATATATATTATAAATATATTATAAAATATATATTATAAATA TATTATAAAATATATATTATAAATATATTATAAAATATATATTATA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	106	0.0094	245	c.155 others(264): Show c.155-37921_155-37920insTTATAAAATATATATTATAAATATAT TATAAAATATATATTATAAATATATTATAAAATATATATTATAAATATAT TATAAAATATATATTATAAATATATTATAAAATATATATTATAAATATAT TATAAAATATATATTATAAATATATTATAAAATATATATTATAAATATAT TATAAAATATATATTATAAATATATTATAAAATATATATTATAAATATAT TATAAAATATATATTATAA	ARHGAP10	ENSG00000071205.12	transcript	ENST00000336498.8	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr4	TogoVar
ARHGEF10_chr8_1818926_1963641	1897409	C C	CTGTGGGC others(238): Show CTGTGGGCTCTGTCCTAAGGCATCGGATCGCAGTTCCCCCTCTGGACAGC TGTGGGCTCTGTCCTAAGGCATTGGATCGCAGTTCCCCCTCTGGACAGCT GTGGGCTCTGTCCTAAGGGATCGGATCGCAGTTCCCACTCTCGACAGTTG TGGGCTCTGTCCTAAGGGATCGGATCGCAGTTCCCACTCTCGACAGCTGT GGGCTCTGTCCTAAGGGATCGGATCGCAGTTCCCACTCTCGACAGT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0012 a0012	a0012c0130 a0012c0130	a0012c0130t0073 a0012c0130t0073	a0012c0130t0073g0342 a0012c0130t0073g0342	1	363	0.0028	245	c.155 others(262): Show c.1557+979_1557+980insCATCGGATCGCAGTTCCCCCTCTGGACA GCTGTGGGCTCTGTCCTAAGGCATTGGATCGCAGTTCCCCCTCTGGACAG CTGTGGGCTCTGTCCTAAGGGATCGGATCGCAGTTCCCACTCTCGACAGT TGTGGGCTCTGTCCTAAGGGATCGGATCGCAGTTCCCACTCTCGACAGCT GTGGGCTCTGTCCTAAGGGATCGGATCGCAGTTCCCACTCTCGACAGTTG TGGGCTCTGTCCTAAGG	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	14/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF16_chr1_3449665_3486113	3450454	A A	AGTAATTT others(238): Show AGTAATTTTGCATTGGGTGCTGGAGGTCGTAAATGTGTAATTTTGCATTG GGTGCTGGAGGTCGTAAATGTGTAATTTTGCATTGGGTGCTGGAGGTCGT AAATGTGTAATTTTGCATTGGGTGCTGGAGGTCGTAAATGTGTAATTTTG CATTGGGTGCTGGAGGTCGTAAATGTGTAATTTTGCATTGGGTGCTGGAG GTCGTAAATGTGTAATTTTGCATTGGGTGCTGGAGGTCGTAAATGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02572.hp2 HG02895.hp1 others(1): Show HG02055.hp2 HG02572.hp2 HG02895.hp1 NA19043.hp1	a0005 a0015 a0005 a0015	a0005c0013 a0015c0034 a0005c0013 a0015c0034	a0005c0013t0005 a0015c0034t0005 a0005c0013t0005 a0015c0034t0005	a0005c0013t0005g0279 a0005c0013t0005g0280 a0005c0013t0005g0281 others(1): Show a0005c0013t0005g0279 a0005c0013t0005g0280 a0005c0013t0005g0281 a0015c0034t0005g0282	4	334	0.0120	245	c.-43 others(256): Show c.-4377_-4376insGTAATTTTGCATTGGGTGCTGGAGGTCGTAAATG TGTAATTTTGCATTGGGTGCTGGAGGTCGTAAATGTGTAATTTTGCATTG GGTGCTGGAGGTCGTAAATGTGTAATTTTGCATTGGGTGCTGGAGGTCGT AAATGTGTAATTTTGCATTGGGTGCTGGAGGTCGTAAATGTGTAATTTTG CATTGGGTGCTGGAGGTCGTAAATGTGTAATTTTGCATTGGGTGCTGGAG GTCGTAAATGT	ARHGEF16	ENSG00000130762.15	transcript	ENST00000378378.9	protein_coding		4210		chr1	TogoVar
ASAP1_chr8_130047104_130448674	130050070	C C	CACATGGG others(238): Show CACATGGGGGCAGAGGGGAACACATGGGGGCAGAGGAGAACACATGGGGG GCAGAGGAGAACACATGGGGGCAGAGGGGAATACATGGGGGGCAGAGGAG AACACATGGGGGGCAGAGGAGAACACATGGGGGGCAGAGGAGAACACATG GGGGGCAGAGAACACATGGGGGCAGAGGGGAATACATGGGGGGCAGAGGA GAACACATGGGGGGCAGAGGGGAACACATGGGGGGCAGAGGGGAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0104 a0002c0002t0001g0104	1	308	0.0033	245	c.46 others(256): Show c.4660_*4661insATTCCCCTCTGCCCCCCATGTGTTCCCCTCTGCC CCCCATGTGTTCTCCTCTGCCCCCCATGTATTCCCCTCTGCCCCCATGTG TTCTCTGCCCCCCATGTGTTCTCCTCTGCCCCCCATGTGTTCTCCTCTGC CCCCCATGTGTTCTCCTCTGCCCCCCATGTATTCCCCTCTGCCCCCATGT GTTCTCCTCTGCCCCCCATGTGTTCTCCTCTGCCCCCATGTGTTCCCCTC TGCCCCCATGT	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2033		chr8	TogoVar
ASCC1_chr10_72091032_72221276	72198308	A A	AGGGGAGG others(238): Show AGGGGAGGGGGAAGGAGATGGGGGAGGGCAGACGGGAGGGGGGGACGGGG AGGGAAGGGGGAGGGAAGAGGAGGGGAGGGGGATGGAGGGGAGGGGGAGG GGAGGGGGAGGAGAGGGGGATGGGAGGGGGGACGGGGAGGGGACGGGGAG GGGAGGGGGAGGGGAGGGGAGATGGGAGGGGGAGGGGAGGGTGAGGGGAG AGGGAAGGGGAGGGAGGGGAGGAGAGGGGAGGGGAGGGGAGGGGAG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0009 a0001c0001t0002g0009	1	216	0.0046	245	c.311 others(262): Show c.311-1320_311-1319insCTCCCCTCCCCTCCCCTCCCCTCTCCTC CCCTCCCTCCCCTTCCCTCTCCCCTCACCCTCCCCTCCCCCTCCCATCTC CCCTCCCCTCCCCCTCCCCTCCCCGTCCCCTCCCCGTCCCCCCTCCCATC CCCCTCTCCTCCCCCTCCCCTCCCCCTCCCCTCCATCCCCCTCCCCTCCT CTTCCCTCCCCCTTCCCTCCCCGTCCCCCCCTCCCGTCTGCCCTCCCCCA TCTCCTTCCCCCTCCCC	ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding	4/9			chr10	TogoVar
ASCC1_chr10_72091032_72221276	72198308	A A	AGGGGAGG others(238): Show AGGGGAGGGGGAAGGAGATGGGGGGAGGGCAGACGGGAGGGGGGACGGGG AGGGAAGGGGGAGGGAAGAGGAGGGGAGGGGGATGGGAGGGGAGGGGGAG GGGAGGGGGAGGGGAGGGGGATGGGAGGGGGACGGGGAGGGGACGGGGAG GGGAGGGGGAGGGGAGGGGAGATGGGAGGGGAGGGGAGGGGGAGGGGAGG GGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	216	0.0046	245	c.311 others(262): Show c.311-1320_311-1319insCTCCCCTCCCCTCCCCCTCCCCTCCCCT CCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCATCTC CCCTCCCCTCCCCCTCCCCTCCCCGTCCCCTCCCCGTCCCCCTCCCATCC CCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCATCCCCCTCCCCTCCT CTTCCCTCCCCCTTCCCTCCCCGTCCCCCCTCCCGTCTGCCCTCCCCCCA TCTCCTTCCCCCTCCCC	ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding	4/9			chr10	TogoVar
ASPG_chr14_104080700_104120582	104085461	A A	ACCCCGCC others(238): Show ACCCCGCCAGGCCCCGCCCCCACCCCGCCAGGCCCCGCCCCCACCCCGCC AGGCCCCGCCTCTCTCTCCGACCCTGGACAGTCCCCGGGACCCACCCCGC CCCCAGGTCCTGCCCCCGCCCGCCTCCGCGGGGCCTCCCACCCTCCCGGG CAGACTCCACTCCCGCCCCCTCCCCGTGGGTGCCCCCGCCAGGCCCCGCC CCCACCCCGCCAGGCCCCGCCCCACCCCGCCATAACCCGCCCCGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0056 a0002c0003t0005g0056	1	368	0.0027	245	c.-31 others(254): Show c.-310_-309insCCCCGCCAGGCCCCGCCCCCACCCCGCCAGGCCCCG CCCCCACCCCGCCAGGCCCCGCCTCTCTCTCCGACCCTGGACAGTCCCCG GGACCCACCCCGCCCCCAGGTCCTGCCCCCGCCCGCCTCCGCGGGGCCTC CCACCCTCCCGGGCAGACTCCACTCCCGCCCCCTCCCCGTGGGTGCCCCC GCCAGGCCCCGCCCCCACCCCGCCAGGCCCCGCCCCACCCCGCCATAACC CGCCCCGCT	ASPG	ENSG00000166183.16	transcript	ENST00000551177.6	protein_coding		238		chr14	TogoVar
ASPG_chr14_104080700_104120582	104085483	A A	ACCCCGCC others(238): Show ACCCCGCCAGGCCCCGCCCCCACCCCGCCAGGCCCCGCCTCTCTCTCCGA CCCTGGACAGTCCCCGGGACCCACCCCGCCCCCAGGTCCTGCCCCCGCCC GCCTCCGCGGGGCCTCCCACCCTCCCGGGCAGACTCCACTCCCGCCCCCT CCCCGTGGGTGCCCCCGCCAGGCCCCGCCCCCACCCCGCCAGGCCCCGCC CCACCCCGCCATAACCCGCCCCGCCCCCCGCCAGGCCCCGCCCCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp2 HG01517.hp1 HG01516.hp2 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	2	368	0.0054	245	c.-28 others(254): Show c.-288_-287insCCCCGCCAGGCCCCGCCCCCACCCCGCCAGGCCCCG CCTCTCTCTCCGACCCTGGACAGTCCCCGGGACCCACCCCGCCCCCAGGT CCTGCCCCCGCCCGCCTCCGCGGGGCCTCCCACCCTCCCGGGCAGACTCC ACTCCCGCCCCCTCCCCGTGGGTGCCCCCGCCAGGCCCCGCCCCCACCCC GCCAGGCCCCGCCCCACCCCGCCATAACCCGCCCCGCCCCCCGCCAGGCC CCGCCCCGC	ASPG	ENSG00000166183.16	transcript	ENST00000551177.6	protein_coding		216		chr14	TogoVar
ATF1_chr12_50759101_50826162	50823520	T T	TTTATATA others(238): Show TTTATATATTATATATATAATCTATATTATATATAATATAGATTATATAT ATAATATAGATTATATATATAATCTATATTATATATAATATAGATTATAT ATATAATATAGATTATATATATAATCTATATTATATATAATATAGATTAT ATATATAATATAGATTATATATATAATCTATATTATATATAATATAGATT ATATAATCTATATTATATATATAATCTATATTATATATAATATAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 NA19070.hp2 HG02976.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0061 a0001c0001t0003g0077 a0001c0001t0003g0061 a0001c0001t0003g0077	2	382	0.0052	245	c.37 others(256): Show c.3741_*3742insTTATATATTATATATATAATCTATATTATATATA ATATAGATTATATATATAATATAGATTATATATATAATCTATATTATATA TAATATAGATTATATATATAATATAGATTATATATATAATCTATATTATA TATAATATAGATTATATATATAATATAGATTATATATATAATCTATATTA TATATAATATAGATTATATAATCTATATTATATATATAATCTATATTATA TATAATATAGA	ATF1	ENSG00000123268.9	transcript	ENST00000262053.8	protein_coding		2359		chr12	TogoVar
ATP13A3_chr3_194397677_194492002	194421143	A A	ATATATAT others(238): Show ATATATATATATAGTTTATATATATATACTATATATATAGTTTATATATA TATACTATATATATAGTTTATATATATATACTATATATATAGTATATATA TATAAACTATATATATAGTATATATATATACTATATATATAGTTTATATA TATATACTATATATATAGTATATATATATACTATATATATAGTATATATA TATATACTATATATATAGTTTATATATATATACTATATATATAGTT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02615.hp2 HG03486.hp1 HG02572.hp1 HG02615.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0026 a0001c0001t0005 a0001c0001t0026	a0001c0001t0005g0175 a0001c0001t0005g0176 a0001c0001t0026g0294 a0001c0001t0005g0175 a0001c0001t0005g0176 a0001c0001t0026g0294	3	304	0.0099	245	c.331 others(264): Show c.3314-1177_3314-1176insAACTATATATATAGTATATATATATA AACTATATATATAGTATATATATATATACTATATATATAGTATATATATA TACTATATATATAGTATATATATATAAACTATATATATAGTATATATATA TACTATATATATAGTTTATATATATATACTATATATATAGTATATATATA TAAACTATATATATAGTATATATATATAAACTATATATATAGTATATATA TATAAACTATATATATATA	ATP13A3	ENSG00000133657.17	transcript	ENST00000645319.2	protein_coding	30/33			chr3	TogoVar
BRSK2_chr11_1384934_1467689	1430872	C C	CGGGGTCT others(238): Show CGGGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGC GGGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCG GGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGG TCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGGGT CTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGG	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0040 a0001c0001t0045g0040	1	360	0.0028	245	c.92- others(260): Show c.92-5166_92-5165insGGTCTGGTCAGGTTTTGCCACTGTGCCCAG CAGTGAGCGTCTTCTGCGGGGTCTGGTCAGGTTTTGCCACTGTGCCCAGC AGTGAGCGTCTTCTGCGGGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCA GTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTG AGCGTCTTCTGCGGGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGA GCGTCTTCTGCGGGG	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BTAF1_chr10_91918770_92036437	92012179	C C	CCCTCCCC others(238): Show CCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCTCCCCTCCTCC CCTCCCCTCCTCTCCTCCCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTC CTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCC TCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCT CCCCTTCTCCCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02280.hp1 HG02922.hp2 others(2): Show HG01243.hp1 HG02280.hp1 HG02922.hp2 HG02976.hp2 HG03486.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0008 a0001c0001 a0004c0008	a0001c0001t0001 a0004c0008t0001 a0001c0001t0001 a0004c0008t0001	a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0095 others(2): Show a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0004c0008t0001g0093	5	330	0.0152	245	c.431 others(262): Show c.4311+766_4311+767insTCCCCTCCTCCCCTCCCCTCCTCCCCTC CCCTCCTCTCCCCTCCTCCCCTCCCCTCCTCTCCTCCCCTCCCCTCCCCT CCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTC CCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCC TCCCCTCCTCCCCTCCCCTCCCCTTCTCCCCTCCCCTCCCCTCCCCTCCT CCCCTCCCCTCCCCTCC	BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding	30/37		INFO_REALIGN_3_PRIME	chr10	TogoVar
C10orf90_chr10_126419997_126675693	126564835	T T	TATATATA others(238): Show TATATATATAATATATATTATATATAATATATATTATATATTATATATAA TATATATTATATATAATATATATTATATATTATATATAATATATATTATA TATAATATATATTATATAAAATATATAATATATAATATATATTATATATT ATATATAATATATATTATATATAATATATATAATATATATTATATAAAAT ATATATTATATATAATATATATTATATATAATATATATTATATATA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0006 a0003c0002t0006	a0003c0002t0006g0166 a0003c0002t0006g0166	1	218	0.0046	245	c.314 others(264): Show c.314-50897_314-50896insTATATATAATATATATTATATATAAT ATATATTATATATAATATATATTTTATATAATATATATTATATATATTAT ATATAATATATATTATATATAATATATAATATATATTATATATTATATAT TTTATATAATATATATTATATATAATATATATTATATATAATATATAATA TATATTATATATAATATATATTATATATAATATATAATATATATTATATA TAATATATATTATATATAT	C10orf90	ENSG00000154493.20	transcript	ENST00000488181.3	protein_coding	2/9			chr10	TogoVar
C10orf90_chr10_126419997_126675693	126564843	T T	TAATATAT others(238): Show TAATATATATTATATATAATATATATTATATATAATATATATTATATATA ATATATAATATATATTATATATGATATATATTATATATTATATATAATAT ATATTATATATAATATATATTATATATTATATAAAATATATATCATATAT AATATATAATATATATTATATAAAATATATATTATATATAATATATATTA TATAAAATATATATTATATATAATATATAATATATATTATATATAA	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0192 a0001c0001t0004g0192	1	218	0.0046	245	c.314 others(264): Show c.314-50905_314-50904insTTATATATAATATATATTATATATTA TATATAATATATATTTTATATAATATATATTATATATAATATATATTTTA TATAATATATATTATATATTATATATGATATATATTTTATATAATATATA ATATATATTATATATAATATATATTATATATAATATATAATATATATCAT ATATAATATATATTATATATTATATATAATATATATTATATATAATATAT ATTATATATAATATATATT	C10orf90	ENSG00000154493.20	transcript	ENST00000488181.3	protein_coding	2/9			chr10	TogoVar
C4orf50_chr4_5954375_6023431	6004473	A A	ATGGTGAT others(238): Show ATGGTGATGGTGATGATAGTGATGATGGTGATGATGGTGATGGTGATGAT GGTGATGGTGATGATATTGATGGTGATGATATTGATGGTGATGATGGTGA TGGTGATGATGTGATGGTGATGATGGTGATGATGGTGATAGTTATGATGG TGATGGTGATGATGTTGATGATGGTGATGATGGTGATGATGGTGATGGTG ATGATGTGATGGTGATGATAGTGATGATGGTGATGATGGTGATGGT	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0000 a0002c0002t0000	a0002c0002t0000g0191 a0002c0002t0000g0191	1	346	0.0029	245	c.963 others(262): Show c.963+3522_963+3523insACCATCACCATCATCACCATCATCACTA TCATCACCATCACATCATCACCATCACCATCATCACCATCATCACCATCA TCAACATCATCACCATCACCATCATAACTATCACCATCATCACCATCATC ACCATCACATCATCACCATCACCATCATCACCATCAATATCATCACCATC AATATCATCACCATCACCATCATCACCATCACCATCATCACCATCATCAC TATCATCACCATCACCA	C4orf50	ENSG00000181215.17	transcript	ENST00000711657.1	protein_coding	3/11			chr4	TogoVar
C7orf50_chr7_992006_1143247	1073775	G G	GACCCCCC others(238): Show GACCCCCCACCCCGCTGCCGTCACGCTCCGTGACCCCCGACCCCGACACC CTGCTGCCGTGATGTTCCCCCAACCCTGCACCCCGCTGCCGTGACGCCCG CCCCGACCCCGCACCCCGCTGCTGTCACGCCCCCGACCCCGCACCCCGCC GCCGTCACGCCCGACCCCTCACCCCGCTACTGTGACGCCCCCCGACCCCT CACCCCGCTGCCGTCACACACCCCGACCCCGCTGCCGTCACTCCCA	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02818.hp1 HG03490.hp2 others(4): Show HG01358.hp2 HG02818.hp1 HG03490.hp2 HG03492.hp1 HG03579.hp1 HG04228.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008	a0001c0001t0003g0246 a0001c0001t0005g0212 a0001c0001t0005g0227 others(4): Show a0001c0001t0003g0246 a0001c0001t0005g0212 a0001c0001t0005g0227 a0001c0001t0008g0166 a0001c0001t0008g0169 a0001c0001t0008g0170 a0001c0001t0008g0171	7	326	0.0215	245	c.129 others(264): Show c.129+53237_129+53481dupTGGGAGTGACGGCAGCGGGGTCGGGG TGTGTGACGGCAGCGGGGTGAGGGGTCGGGGGGCGTCACAGTAGCGGGGT GAGGGGTCGGGCGTGACGGCGGCGGGGTGCGGGGTCGGGGGCGTGACAGC AGCGGGGTGCGGGGTCGGGGCGGGCGTCACGGCAGCGGGGTGCAGGGTTG GGGGAACATCACGGCAGCAGGGTGTCGGGGTCGGGGGTCACGGAGCGTGA CGGCAGCGGGGTGGGGGGT	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
CACNA1B_chr9_137872782_138129619	138126945	G G	GCCCCCGG others(238): Show GCCCCCGGCCGCCAGCAGGGGGCGCGAGGCCATGACACCGTGAGCAAGAG GGCCCTGCAGTGCCCCCGGCCGCCAGCAGGGGGCGCGAGGCCATGACACC GTGAGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCCAGCAGGGGGCGCGAG GCCATGACACCGTGAGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCCAGCA GGGGGCGCGAGGCCATGACACCGTGAGCAAGAGGGCCCTGCAGTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19240.hp1 NA19030.hp1 NA19240.hp1	a0001 a0004 a0001 a0004	a0001c0003 a0004c0023 a0001c0003 a0004c0023	a0001c0003t0043 a0004c0023t0042 a0001c0003t0043 a0004c0023t0042	a0001c0003t0043g0127 a0004c0023t0042g0076 a0001c0003t0043g0127 a0004c0023t0042g0076	2	248	0.0081	245	c.49 others(256): Show c.4946_*4947insCCCCCGGCCGCCAGCAGGGGGCGCGAGGCCATGA CACCGTGAGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCCAGCAGGGGGCG CGAGGCCATGACACCGTGAGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCC AGCAGGGGGCGCGAGGCCATGACACCGTGAGCAAGAGGGCCCTGCAGTGC CCCCGGCCGCCAGCAGGGGGCGCGAGGCCATGACACCGTGAGCAAGAGGG CCCTGCAGTGC	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding		2327		chr9	TogoVar
CACNA1H_chr16_1148106_1226768	1185595	T T	TCGGCATG others(238): Show TCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGTGAGTAGA CGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGA CGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGCGAGTAGA CGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGA CGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGA	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0020 a0020	a0020c0021 a0020c0021	a0020c0021t0004 a0020c0021t0004	a0020c0021t0004g0147 a0020c0021t0004g0147	1	338	0.0030	245	c.300 others(262): Show c.300-9376_300-9375insGGCATGCATAGGGCCGGGGGCGGGGTAC GTGGGGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGT GTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTAC GTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGT GTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTAC GGGGCAGGTGAGTAGAC	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1I_chr22_39565753_39694735	39596170	G G	GGGGGGCA others(238): Show GGGGGGCAGGGCGGAGGGAGATGGGGGGGCAGGGCGGAGAGAGATGGGGA GCAGGGCGGAGAGAGATGGGGGGGCAGGGCGGAGAGAGATGGGGGGGCAG GGCGGAGAGAGATGGGGGGCAGGGCGGAGGGAGATGGGGGGCAGGGCGGA GGGAGATGGGGGAGCAGGACGGAGGGAGATGGGGGAGCAGGACGGAGGGA GATGGGGGCAGGGCGGAGGGAGATGGGGGGCAGGGCGGAGAGAGAT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01106.hp2 HG01928.hp1 others(4): Show HG00609.hp2 HG01106.hp2 HG01928.hp1 HG01934.hp1 HG01975.hp2 HG01993.hp2 HG02273.hp1	a0001 a0023 a0001 a0023	a0001c0002 a0023c0048 a0001c0002 a0023c0048	a0001c0002t0002 a0001c0002t0003 a0001c0002t0007 others(2): Show a0001c0002t0002 a0001c0002t0003 a0001c0002t0007 a0001c0002t0014 a0023c0048t0002	a0001c0002t0002g0230 a0001c0002t0002g0234 a0001c0002t0002g0235 others(4): Show a0001c0002t0002g0230 a0001c0002t0002g0234 a0001c0002t0002g0235 a0001c0002t0003g0228 a0001c0002t0007g0229 a0001c0002t0014g0226 a0023c0048t0002g0211	7	236	0.0297	245	c.237 others(262): Show c.237-1935_237-1934insGGAGCAGGGCGGAGAGAGATGGGGGGGC AGGGCGGAGAGAGATGGGGGGGCAGGGCGGAGAGAGATGGGGGGCAGGGC GGAGGGAGATGGGGGGCAGGGCGGAGGGAGATGGGGGAGCAGGACGGAGG GAGATGGGGGAGCAGGACGGAGGGAGATGGGGGCAGGGCGGAGGGAGATG GGGGGCAGGGCGGAGAGAGATGGGGGCAGGGCGGAGGGAGATGGGGGGGC AGGGCGGAGAGAGATGG	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CACNB4_chr2_151827771_152104044	152074609	C C	CCATCACC others(238): Show CCATCACCATCACCCCCTCACCATTACCACCTCCACCATCACCATCACCC CCTCACCATTACCACCTCTATCATCACCATCACCCCCTCACCATTACCAC CTCCACCATCACCATCACCCCCTCACCATTACCACCTCTATCATCACCAT CACCCCCTCACCATTACCACCTCCACCATCACCATCACCCCCTCACCATT ACCACCTCTATCATCACCATCACCCCCTCACCATTACCACCTCTAT	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0213 a0001c0001t0036g0213	1	230	0.0044	245	c.147 others(264): Show c.147+23720_147+23721insATAGAGGTGGTAATGGTGAGGGGGTG ATGGTGATGATAGAGGTGGTAATGGTGAGGGGGTGATGGTGATGGTGGAG GTGGTAATGGTGAGGGGGTGATGGTGATGATAGAGGTGGTAATGGTGAGG GGGTGATGGTGATGGTGGAGGTGGTAATGGTGAGGGGGTGATGGTGATGA TAGAGGTGGTAATGGTGAGGGGGTGATGGTGATGGTGGAGGTGGTAATGG TGAGGGGGTGATGGTGATG	CACNB4	ENSG00000182389.20	transcript	ENST00000539935.7	protein_coding	2/13			chr2	TogoVar
CAMTA1_chr1_6780454_7774706	7114745	C C	CTGAGTCC others(238): Show CTGAGTCCGAAAACCTAAGAACCAGGAGAGCTGATGGTGGTGTTCCAGTG TGAGTCCGAAAACCTGAGACCCAGGAGAGCTGATGGTGGTGTTCCAGTGT GAGTCCGAAAACCTGAGACCCAGGAGAGCTGATGGTGGTGTTCCAGTGTG AGTCCGAAAACCTGAGACCCAGGAGAGCTGATGGTGGTGTTCCAGTGTGA GTCCGAAAACCTGAGACCCAGGAGAGCTGATGGTGGTGTTCCAGTG	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0016 a0008c0011t0016	a0008c0011t0016g0029 a0008c0011t0016g0029	1	58	0.0172	245	c.302 others(264): Show c.302+23389_302+23390insAAGAACCAGGAGAGCTGATGGTGGTG TTCCAGTGTGAGTCCGAAAACCTGAGACCCAGGAGAGCTGATGGTGGTGT TCCAGTGTGAGTCCGAAAACCTGAGACCCAGGAGAGCTGATGGTGGTGTT CCAGTGTGAGTCCGAAAACCTGAGACCCAGGAGAGCTGATGGTGGTGTTC CAGTGTGAGTCCGAAAACCTGAGACCCAGGAGAGCTGATGGTGGTGTTCC AGTGTGAGTCCGAAAACCT	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMTA1_chr1_6780454_7774706	7114745	C C	CTGAGTCC others(238): Show CTGAGTCCGAAAACCTGAGACCCAGGAGAGCTGATGGTGGTGTTCCAGTG TGAGTCCGAAAACCTGAGACCCAGGAGAGCTGATGGTGGTGTTCCAGTGT GAGTCCGAAAACCTGAGACCCAGGAGAGCTGATGGTGGTGTTCCAGTGTG AGTCCGAAAACCTGAGACCCAGGAGAGCTGATGGTGGTGTTCCAGTGTGA GTCCGAAAACCTGAGACCCAGGAGAGCTGATGGTGGTGTTCCAGTG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0014 a0001c0001t0021g0014	1	58	0.0172	245	c.302 others(264): Show c.302+23926_302+24170dupCCTGAGACCCAGGAGAGCTGATGGTG GTGTTCCAGTGTGAGTCCGAAAACCTGAGACCCAGGAGAGCTGATGGTGG TGTTCCAGTGTGAGTCCGAAAACCTGAGACCCAGGAGAGCTGATGGTGGT GTTCCAGTGTGAGTCCGAAAACCTGAGACCCAGGAGAGCTGATGGTGGTG TTCCAGTGTGAGTCCGAAAACCTGAGACCCAGGAGAGCTGATGGTGGTGT TCCAGTGTGAGTCCGAAAA	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPN12_chr19_38725192_38749474	38735707	G G	GGGGGCGG others(238): Show GGGGGCGGGGCGGGGGTTCTGGGGGCGGGGCGGGGCGGGGGTTCTGGGGG CGGGGCGGGGCGGGGGTTCTGGGGGCGGGGCGGGGGTTCTGGGGGCGGGG CGGGGCGGGGCGGTGGTTCTGCGGGCGGGGCGGGGCGGGGCGGGGCGGGG GTTCTGGGGGCGGGGCGGGGCGGGGCGGGGGTTCTGGGGGCGGGGCGGGG CGGGGGTTCTGGGGGCGGGGCGGGGCGGGGCGGGGGTTCTGGGGGC	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0179 a0001c0002t0002g0179	1	342	0.0029	245	c.158 others(262): Show c.1584-164_1584-163insGCCCCCAGAACCCCCGCCCCGCCCCGCC CCGCCCCCAGAACCCCCGCCCCGCCCCGCCCCCAGAACCCCCGCCCCGCC CCGCCCCGCCCCCAGAACCCCCGCCCCGCCCCGCCCCGCCCCGCCCGCAG AACCACCGCCCCGCCCCGCCCCGCCCCCAGAACCCCCGCCCCGCCCCCAG AACCCCCGCCCCGCCCCGCCCCCAGAACCCCCGCCCCGCCCCGCCCCCAG AACCCCCGCCCCGCCCC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CARD14_chr17_80165030_80214331	80193259	A A	AACCTGGC others(238): Show AACCTGGCACAGACAGTCCCCAGACATGAGTTTCCAGGGGACCCGATTCG ACCTGGCACAGACAGTCCCCAGACATGAGTTTCCAGGGGACCCGATTCAA CCTGGCACAGATAGTCCCCAGACATGAGTTTCCAGGGGACCCGATTCGAC CTGGCACAGACAGTCCCCAGACATGAGTTTCCAGGGGACCTGATTCGACC TGGTACAGACGGTCCCCGGACATGAGTTTCCAGGGGACCCGATTCG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0016 a0016	a0016c0036 a0016c0036	a0016c0036t0013 a0016c0036t0013	a0016c0036t0013g0060 a0016c0036t0013g0060	1	376	0.0027	245	c.135 others(262): Show c.1356+683_1356+684insGATTCGACCTGGCACAGACAGTCCCCAG ACATGAGTTTCCAGGGGACCCGATTCAACCTGGCACAGATAGTCCCCAGA CATGAGTTTCCAGGGGACCCGATTCGACCTGGCACAGACAGTCCCCAGAC ATGAGTTTCCAGGGGACCTGATTCGACCTGGTACAGACGGTCCCCGGACA TGAGTTTCCAGGGGACCCGATTCGACCTGGCACAGACAGTCCCCAGACAT GAGTTTCCAGGGGACCC	CARD14	ENSG00000141527.19	transcript	ENST00000648509.2	protein_coding	12/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
CASQ2_chr1_115695021_115773714	115761439	A A	AAGAAGAA others(238): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGA AGGGGAAGGGGAGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGG GAGAGGGAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0272 a0002c0004t0002g0272	1	364	0.0028	245	c.234 others(262): Show c.234+6868_234+6869insCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTCCTTCTCCTTCTC CTTCTTCCTCTCCCTCTCCCTCTCCCCCTCCCCCTCCCCCTCCCCCTCCC CCTCCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTC CCCTTCCCCTTCCCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761473	A A	AAGAAGAA others(238): Show AAGAAGAAGAAGAGGAGGAAGAAGAAGAAGAAGAAGAAGGGGAAGGGGAA GGGGAAGGGGAAGGGGAAGGGGAGGGAGGGGGAGGGGGAGGGGGAGGGGA GGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGGAGAGGGAGAGGAAGA AGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGGAGAAGGAGAAGGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0204 a0001c0002t0003g0204	1	364	0.0028	245	c.234 others(262): Show c.234+6834_234+6835insCCTTCTCCTTCTCCTTCTCCTTCTCCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCC TCTCCTTCTCCTTCTCCTTCTTCCTCTCCCTCTCCCTCTCCCTCTCCCCC TCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCTCCCC TTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCTTCTTCTTCTTCTTCTT CCTCCTCTTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CCDC6_chr10_59783747_59911556	59882204	G G	GGAAAGCC others(238): Show GGAAAGCCGGGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGC CGGGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGGG GAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGGGAGA AGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGA AAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0033 a0001c0001t0002g0033	1	288	0.0035	245	c.303 others(264): Show c.303+23917_303+23918insTTTCCTTCTCCCCGCGGCTTTCCTTT CCTTCTCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCT CCCGCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCC CCGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCCGCGGCT TTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTT TCCTTCTCCCCCGGCTTTC	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8			chr10	TogoVar
CCR9_chr3_45881543_45908174	45890256	G G	GAAATATA others(238): Show GAAATATATATATATATTTATATAAATATATATATAACATATATATATAT TTATATAAATATATATATAACATATATATATATTTATATAAATATATATA TAACATATATATATATTTATATAAATATATATATAACATATATATATTTA TATAAATATATATATAACATATATATATTTATATAAATATATATATAACA TATATATATTTATATAAATATATATATAACATATATATATTTATAT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01261.hp1 HG01361.hp2 others(4): Show HG01081.hp1 HG01261.hp1 HG01361.hp2 HG01515.hp2 HG01517.hp1 HG01952.hp1 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	7	424	0.0165	245	c.-29 others(262): Show c.-29+3614_-29+3615insTATTTATATAAATATATATATAACATAT ATATATATTTATATAAATATATATATAACATATATATATATTTATATAAA TATATATATAACATATATATATATTTATATAAATATATATATAACATATA TATATTTATATAAATATATATATAACATATATATATTTATATAAATATAT ATATAACATATATATATTTATATAAATATATATATAACATATATATATTT ATATAAATATATATATA	CCR9	ENSG00000173585.18	transcript	ENST00000357632.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(238): Show CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCC CTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCCCCTCCCCCCTCCCCCCCT CCCCCCTCCCCTCCCCCTCCCCCCTCGCCTCCCCCTCCCCCTCCCCTCCC CCTCCTCTCCCCCTCCCTTCCCCTCCTCTCCCCTCCCCTCCCCTCT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0027 a0001c0001t0036g0027	1	256	0.0039	245	c.-45 others(266): Show c.-455+14589_-455+14590insCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTC CCCCCTCCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCCCCTCCCC CCTCCCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCGCCTCCCCCTCCC CCTCCCCTCCCCCTCCTCTCCCCCTCCCTTCCCCTCCTCTCCCCTCCCCT CCCCTCTCCCCTCCCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CDH4_chr20_61247261_61945617	61282945	G G	GTGTGTGA others(238): Show GTGTGTGATGTACGTGCATTTGCACGCGTGTGCTGTGGCGTGTGTGATGT ACGTGCGTTTGCACGCGTGTGCTGTGGCGTGTGTGATGTACGTGCGTTTG CACGCGTGTGCTGTGGCGTGTGATGTACGTGCGTTTGCACGCGCGTGCTG TGGCGTGTGTGATGTACGTGCGTTTGCACGCGCGTGCTGTGGCGTGTGTG ATGTACGTGCGTTTGCACGCGCGTGCTGTGGCGTGTGTGATGTGGC	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0008 a0001c0011t0008	a0001c0011t0008g0101 a0001c0011t0008g0101	1	106	0.0094	245	c.169 others(264): Show c.169+28008_169+28009insTGTGTGATGTACGTGCATTTGCACGC GTGTGCTGTGGCGTGTGTGATGTACGTGCGTTTGCACGCGTGTGCTGTGG CGTGTGTGATGTACGTGCGTTTGCACGCGTGTGCTGTGGCGTGTGATGTA CGTGCGTTTGCACGCGCGTGCTGTGGCGTGTGTGATGTACGTGCGTTTGC ACGCGCGTGCTGTGGCGTGTGTGATGTACGTGCGTTTGCACGCGCGTGCT GTGGCGTGTGTGATGTGGC	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15			chr20	TogoVar
CELSR1_chr22_46356174_46542620	46487657	A A	AGGGTGCA others(238): Show AGGGTGCAGGTGGGGGGCGCGGGGGAGGGGAGTCCAGGGTGCAGGTGGGG GGCGCGGGGGAGGGGAGTCCAGGGTGCAGGTGGGGGGTGCGGGGGAGGGG AGTCCAGGGTGCAGGTGGGGGGCGTGGGGGAGGGGAGTCCAGGGTGCAGG TGGGGGGTGCGGGGGAGGGGAGTCCAGGGTGCGGGGGAGGGGAGTCCAGG GTGCAGGTGGGGGGCACGGAGGAGGGGAGTCCAGGGTGCAAGTGGG	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0023 a0023	a0023c0042 a0023c0042	a0023c0042t0002 a0023c0042t0002	a0023c0042t0002g0054 a0023c0042t0002g0054	1	104	0.0096	245	c.354 others(266): Show c.3545-23313_3545-23312insCCCACTTGCACCCTGGACTCCCCT CCTCCGTGCCCCCCACCTGCACCCTGGACTCCCCTCCCCCGCACCCTGGA CTCCCCTCCCCCGCACCCCCCACCTGCACCCTGGACTCCCCTCCCCCACG CCCCCCACCTGCACCCTGGACTCCCCTCCCCCGCACCCCCCACCTGCACC CTGGACTCCCCTCCCCCGCGCCCCCCACCTGCACCCTGGACTCCCCTCCC CCGCGCCCCCCACCTGCACCC	CELSR1	ENSG00000075275.18	transcript	ENST00000674500.2	protein_coding	1/34			chr22	TogoVar
CELSR1_chr22_46356174_46542620	46487657	A A	AGGGTGCA others(238): Show AGGGTGCAGGTGGGGGGCGCGGGGGAGGGGAGTCCAGGGTGCAGGTGGGG GGCGCGGGGGAGGGGAGTCCAGGGTGCAGGTGGGGGGTGCGGGGGAGGGG AGTCCAGGGTGCAGGTGGGGGGCGTGGGGGAGGGGAGTCCAGGGTGCAGG TGGGGGGTGCGGGGGAGGGGAGTCCAGGGTGCGGGGGAGGGGAGTCCAGG GTGCAGGTGGGGGGCACGGAGGAGGGGAGTCCAGGGTGCAGGTGGG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00609.hp2 HG00741.hp2 others(22): Show HG00099.hp1 HG00609.hp2 HG00741.hp2 HG01106.hp2 HG01109.hp1 HG02055.hp1 HG02055.hp2 HG02145.hp1 HG02145.hp2 HG02258.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02818.hp1 HG02818.hp2 HG02976.hp2 HG03195.hp2 HG03579.hp2 HG03834.hp2 NA18906.hp1 NA18970.hp2 NA19043.hp1 NA20752.hp2 NA20805.hp1	a0001 a0002 a0005 others(17): Show a0001 a0002 a0005 a0007 a0011 a0015 a0016 a0017 a0018 a0022 a0025 a0027 a0028 a0030 a0031 a0034 a0040 a0044 a0045 a0046	a0001c0001 a0001c0002 a0001c0006 others(22): Show a0001c0001 a0001c0002 a0001c0006 a0001c0029 a0001c0044 a0002c0012 a0002c0051 a0005c0019 a0007c0023 a0011c0011 a0015c0045 a0016c0047 a0017c0020 a0018c0046 a0022c0050 a0025c0024 a0027c0052 a0028c0049 a0030c0036 a0031c0022 a0034c0032 a0040c0067 a0044c0060 a0045c0059 a0046c0065	a0001c0001t0001 a0001c0002t0001 a0001c0006t0001 others(22): Show a0001c0001t0001 a0001c0002t0001 a0001c0006t0001 a0001c0029t0001 a0001c0044t0001 a0002c0012t0003 a0002c0051t0003 a0005c0019t0001 a0007c0023t0001 a0011c0011t0002 a0015c0045t0001 a0016c0047t0001 a0017c0020t0002 a0018c0046t0001 a0022c0050t0001 a0025c0024t0001 a0027c0052t0001 a0028c0049t0001 a0030c0036t0001 a0031c0022t0004 a0034c0032t0001 a0040c0067t0009 a0044c0060t0001 a0045c0059t0001 a0046c0065t0002	a0001c0001t0001g0084 a0001c0002t0001g0013 a0001c0006t0001g0064 others(22): Show a0001c0001t0001g0084 a0001c0002t0001g0013 a0001c0006t0001g0064 a0001c0029t0001g0038 a0001c0044t0001g0027 a0002c0012t0003g0012 a0002c0051t0003g0053 a0005c0019t0001g0024 a0007c0023t0001g0042 a0011c0011t0002g0011 a0015c0045t0001g0062 a0016c0047t0001g0035 a0017c0020t0002g0020 a0018c0046t0001g0030 a0022c0050t0001g0055 a0025c0024t0001g0046 a0027c0052t0001g0031 a0028c0049t0001g0086 a0030c0036t0001g0076 a0031c0022t0004g0039 a0034c0032t0001g0083 a0040c0067t0009g0104 a0044c0060t0001g0095 a0045c0059t0001g0094 a0046c0065t0002g0101	25	104	0.2404	245	c.354 others(266): Show c.3545-23313_3545-23312insCCCACCTGCACCCTGGACTCCCCT CCTCCGTGCCCCCCACCTGCACCCTGGACTCCCCTCCCCCGCACCCTGGA CTCCCCTCCCCCGCACCCCCCACCTGCACCCTGGACTCCCCTCCCCCACG CCCCCCACCTGCACCCTGGACTCCCCTCCCCCGCACCCCCCACCTGCACC CTGGACTCCCCTCCCCCGCGCCCCCCACCTGCACCCTGGACTCCCCTCCC CCGCGCCCCCCACCTGCACCC	CELSR1	ENSG00000075275.18	transcript	ENST00000674500.2	protein_coding	1/34			chr22	TogoVar
CELSR1_chr22_46356174_46542620	46487657	A A	AGGGTGCA others(238): Show AGGGTGCAGGTGGGGGGCGCGGGGGAGGGGAGTCCAGGGTGCAGGTGGGG GGTGCGGGGGAGGGGAGTCCAGGGTGCAGGTGGGGGGCGCGGGGGAGGGG AGTCCAGGGTGCAGGTGGGAGGCGCGGGGGAGGGGAGTCCAGGGTGCAGG TGGGGGGCGTGGGGGAGGGGAGTCCAGGGTGCAGGTGGGGGGTGCGGGGG AGGGGAGTCCAGGGTGCGGGGGAGGGGAGTCCAGGGTGCAGGTGGG	intron_variant intron_variant	MODIFIER	HG01496.hp2 NA19030.hp1 HG01496.hp2 NA19030.hp1	a0042 a0050 a0042 a0050	a0042c0061 a0050c0070 a0042c0061 a0050c0070	a0042c0061t0002 a0050c0070t0007 a0042c0061t0002 a0050c0070t0007	a0042c0061t0002g0097 a0050c0070t0007g0003 a0042c0061t0002g0097 a0050c0070t0007g0003	2	104	0.0192	245	c.354 others(266): Show c.3545-23313_3545-23312insCCCACCTGCACCCTGGACTCCCCT CCCCCGCACCCTGGACTCCCCTCCCCCGCACCCCCCACCTGCACCCTGGA CTCCCCTCCCCCACGCCCCCCACCTGCACCCTGGACTCCCCTCCCCCGCG CCTCCCACCTGCACCCTGGACTCCCCTCCCCCGCGCCCCCCACCTGCACC CTGGACTCCCCTCCCCCGCACCCCCCACCTGCACCCTGGACTCCCCTCCC CCGCGCCCCCCACCTGCACCC	CELSR1	ENSG00000075275.18	transcript	ENST00000674500.2	protein_coding	1/34			chr22	TogoVar
CELSR1_chr22_46356174_46542620	46487657	A A	AGGGTGCA others(238): Show AGGGTGCAGGTGGGGGGCGTGGGGGAGGGGAGTCCAGGGTGCAGGTGGGG GGCGCGGGGGAGGGGAGTCCAGGGTGCAGGTGGGGGGTGCGGGGGAGGGG AGTCCAGGGTGCAGGTGGGGGGCGTGGGGGAGGGGAGTCCAGGGTGCAGG TGGGGGGTGTGGGGGAGGGGAGTCCAGGGTGCGGGGGAGGGGAGTCCAGG GTGCAGGTGGGGGGCACGGAGGAGGGGAGTCCAGGGTGCAGGTGGG	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0034 a0001c0034	a0001c0034t0001 a0001c0034t0001	a0001c0034t0001g0058 a0001c0034t0001g0058	1	104	0.0096	245	c.354 others(266): Show c.3545-23313_3545-23312insCCCACCTGCACCCTGGACTCCCCT CCTCCGTGCCCCCCACCTGCACCCTGGACTCCCCTCCCCCGCACCCTGGA CTCCCCTCCCCCACACCCCCCACCTGCACCCTGGACTCCCCTCCCCCACG CCCCCCACCTGCACCCTGGACTCCCCTCCCCCGCACCCCCCACCTGCACC CTGGACTCCCCTCCCCCGCGCCCCCCACCTGCACCCTGGACTCCCCTCCC CCACGCCCCCCACCTGCACCC	CELSR1	ENSG00000075275.18	transcript	ENST00000674500.2	protein_coding	1/34			chr22	TogoVar
CFAP46_chr10_132803392_132947570	132880630	A A	AGGGCCCC others(238): Show AGGGCCCCTGCAGAGGACAGCACTGAGACACGTCAGGGGCCCCTGCAGAG GACAGCACTGAGACACGTCAGGGGCTCCTGCAGAGGACAGCACTGAGACA CGTCAGGGGCCCCTGCAGAGGACAGCACTGAGACACGTCAGGGGCCCCTG CAGAGGACAGCACTGAGACACGTCAGGGGCCCCTGCAGAGGACAGCGCTG AGACACGTCAGGGGCCCCTGCAGAGGACAGCGCTGAGACACGTCAG	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0002 a0007c0008t0002	a0007c0008t0002g0095 a0007c0008t0002g0095	1	246	0.0041	245	c.379 others(262): Show c.3799+230_3799+231insCTGACGTGTCTCAGCGCTGTCCTCTGCA GGGGCCCCTGACGTGTCTCAGCGCTGTCCTCTGCAGGGGCCCCTGACGTG TCTCAGTGCTGTCCTCTGCAGGGGCCCCTGACGTGTCTCAGTGCTGTCCT CTGCAGGGGCCCCTGACGTGTCTCAGTGCTGTCCTCTGCAGGAGCCCCTG ACGTGTCTCAGTGCTGTCCTCTGCAGGGGCCCCTGACGTGTCTCAGTGCT GTCCTCTGCAGGGGCCC	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	28/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132917949	T T	TGAACCCC others(238): Show TGAACCCCCCTCTCCACGACGCACCTCAGCACCGACGAACCCCCCTCTCC ACGACGCACCTCAGCACCGACGAACCCCCCTCTCCACGACGCACCTCAGC ACCGACGAACCCCCCTCTCCACGACGCACCTCAGCACCGACGAACCCCCC TCTCCACGACGCACCTCAGCACCGACGAACCCCCCTCTCCACGACGCACC TCAGCACCGACGAACCCCCCTCTCCACGACGCACCTCAGCACCGAC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02280.hp1 HG02895.hp1 others(1): Show HG00741.hp1 HG02280.hp1 HG02895.hp1 HG03209.hp1	a0018 a0032 a0069 a0018 a0032 a0069	a0018c0024 a0032c0063 a0069c0070 a0018c0024 a0032c0063 a0069c0070	a0018c0024t0001 a0032c0063t0001 a0069c0070t0002 a0018c0024t0001 a0032c0063t0001 a0069c0070t0002	a0018c0024t0001g0211 a0018c0024t0001g0212 a0032c0063t0001g0213 others(1): Show a0018c0024t0001g0211 a0018c0024t0001g0212 a0032c0063t0001g0213 a0069c0070t0002g0008	4	246	0.0163	245	c.198 others(262): Show c.1986+443_1986+444insGTCGGTGCTGAGGTGCGTCGTGGAGAGG GGGGTTCGTCGGTGCTGAGGTGCGTCGTGGAGAGGGGGGTTCGTCGGTGC TGAGGTGCGTCGTGGAGAGGGGGGTTCGTCGGTGCTGAGGTGCGTCGTGG AGAGGGGGGTTCGTCGGTGCTGAGGTGCGTCGTGGAGAGGGGGGTTCGTC GGTGCTGAGGTGCGTCGTGGAGAGGGGGGTTCGTCGGTGCTGAGGTGCGT CGTGGAGAGGGGGGTTC	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	16/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132917984	T T	TGAACCCC others(238): Show TGAACCCCCCTCTCCACGACGCACCTCAGCACCGATGAACCCCCCTCTCC ACGACGCACCTCAGCACCGACGAACCCCCCTCTCCACGACGCACCTCAGC ACCGACGAACCCCCCTCTCCACGACGCACCTCAGCACCGACGAACCCCCC TCTCCACGACGCACCTCAGCACCGACGAACCCCCCTCTCCACGACGCACC TCAGCACCGACGAACCCCCCTCTCCACGACGCACCTCAGCACCGAC	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0046 a0046	a0046c0064 a0046c0064	a0046c0064t0001 a0046c0064t0001	a0046c0064t0001g0214 a0046c0064t0001g0214	1	246	0.0041	245	c.198 others(262): Show c.1986+408_1986+409insGTCGGTGCTGAGGTGCGTCGTGGAGAGG GGGGTTCGTCGGTGCTGAGGTGCGTCGTGGAGAGGGGGGTTCGTCGGTGC TGAGGTGCGTCGTGGAGAGGGGGGTTCGTCGGTGCTGAGGTGCGTCGTGG AGAGGGGGGTTCGTCGGTGCTGAGGTGCGTCGTGGAGAGGGGGGTTCGTC GGTGCTGAGGTGCGTCGTGGAGAGGGGGGTTCATCGGTGCTGAGGTGCGT CGTGGAGAGGGGGGTTC	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	16/57			chr10	TogoVar
CLEC1B_chr12_9988075_10004121	10002447	T T	TGACCAGA others(238): Show TGACCAGAAATATGCTGTAAGTACTTAGCTTTTGTTTATATCCATTAGCC TATGATCAAATTGGCTTTGCTCTACCTTGCTTCACCTAAGTCACAGTTTC TAAGAATCTATTAATTGATGACGTTAAGTGAGGACTTCCTGTGTTACCCG ATACATATTTGTTGAATGAGTGAAGCATATATGTATGACAGACATTATAA TCCCGATTTTGCATATGGGAAGAGAAGTTTAACTAATTTGAGCAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00408.hp1 others(209): Show HG00099.hp1 HG00280.hp2 HG00408.hp1 HG00438.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp2 HG01993.hp1 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02129.hp1 HG02132.hp1 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp2 HG02300.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG03942.hp1 HG04184.hp1 HG04199.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp2 NA18940.hp1 NA18941.hp2 NA18943.hp2 NA18945.hp1 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18954.hp1 NA18956.hp2 NA18959.hp1 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp2 NA18967.hp1 NA18968.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp2 NA18974.hp1 NA18975.hp2 NA18979.hp1 NA18980.hp1 NA18981.hp1 NA18982.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18987.hp2 NA18989.hp2 NA18991.hp1 NA18992.hp1 NA18993.hp2 NA18994.hp2 NA18997.hp1 NA18998.hp1 NA18998.hp2 NA19003.hp1 NA19004.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp2 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19074.hp2 NA19075.hp2 NA19076.hp2 NA19077.hp1 NA19079.hp2 NA19084.hp1 NA19085.hp2 NA19086.hp1 NA19088.hp1 NA19089.hp1 NA19090.hp1 NA19091.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0006	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0005c0005 a0006c0006	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 others(2): Show a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0005c0005t0001 a0006c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(38): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0019 a0001c0001t0001g0037 a0001c0001t0001g0074 a0002c0002t0001g0004 a0002c0002t0001g0007 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0014 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0029 a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0073 a0003c0003t0001g0002 a0003c0003t0001g0015 a0003c0003t0001g0033 a0003c0003t0001g0068 a0003c0003t0001g0069 a0003c0003t0001g0070 a0005c0005t0001g0016 a0006c0006t0001g0061	212	462	0.4589	245	c.-33 others(256): Show c.-3348_-3347insCTTGCTCAAATTAGTTAAACTTCTCTTCCCATAT GCAAAATCGGGATTATAATGTCTGTCATACATATATGCTTCACTCATTCA ACAAATATGTATCGGGTAACACAGGAAGTCCTCACTTAACGTCATCAATT AATAGATTCTTAGAAACTGTGACTTAGGTGAAGCAAGGTAGAGCAAAGCC AATTTGATCATAGGCTAATGGATATAAACAAAAGCTAAGTACTTACAGCA TATTTCTGGTC	CLEC1B	ENSG00000165682.15	transcript	ENST00000298527.11	protein_coding		3327		chr12	TogoVar
CLPTM1L_chr5_1312752_1350099	1333664	T T	TGAGGATA others(238): Show TGAGGATAAGGGGGGACTACTGTATACACACGGGATGAGGATAAGGGGGG ACTACTGTATACACATTGGATGAGGATAAGGGGGGACTACTGTATACACA CCGGATGAGGATAAGGGGGGACTACTGTATACACACCAGATGAGGATAAG GGGGGACTACTGTAGACACACCGGATGAGGACAAGCGGGAACTACTGTAT ACACACCGGAAGAGGATAAGGGGGGACTACTGTAGACACACCGCAA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02896.hp1 HG02572.hp2 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0126 a0001c0001t0001g0127	2	370	0.0054	245	c.891 others(260): Show c.891+624_891+625insTTGCGGTGTGTCTACAGTAGTCCCCCCTTA TCCTCTTCCGGTGTGTATACAGTAGTTCCCGCTTGTCCTCATCCGGTGTG TCTACAGTAGTCCCCCCTTATCCTCATCTGGTGTGTATACAGTAGTCCCC CCTTATCCTCATCCGGTGTGTATACAGTAGTCCCCCCTTATCCTCATCCA ATGTGTATACAGTAGTCCCCCCTTATCCTCATCCCGTGTGTATACAGTAG TCCCCCCTTATCCTC	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	7/16			chr5	TogoVar
CLPTM1L_chr5_1312752_1350099	1333664	T T	TGAGGATA others(238): Show TGAGGATAAGGGGGGACTACTGTATACACACGGGATGAGGATAAGGGGGG ACTACTGTATACACATTGGATGAGGATAAGGGGGGACTACTGTATACACA CCGGATGAGGATAAGGGGGGAGTACTGTATACACACCAGATGAGGATAAG GGGGGACTACTGTAGACACACCGGATGAGGACAAGCGGGAACTACTGTAT ACACACCGGAAGAGGATAAGGGGGGACTACTGTAGACACACCGCAA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0240	1	370	0.0027	245	c.891 others(260): Show c.891+624_891+625insTTGCGGTGTGTCTACAGTAGTCCCCCCTTA TCCTCTTCCGGTGTGTATACAGTAGTTCCCGCTTGTCCTCATCCGGTGTG TCTACAGTAGTCCCCCCTTATCCTCATCTGGTGTGTATACAGTACTCCCC CCTTATCCTCATCCGGTGTGTATACAGTAGTCCCCCCTTATCCTCATCCA ATGTGTATACAGTAGTCCCCCCTTATCCTCATCCCGTGTGTATACAGTAG TCCCCCCTTATCCTC	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	7/16			chr5	TogoVar
CNIH4_chr1_224351879_224384452	224378516	A A	ACTGAGGC others(238): Show ACTGAGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATCTGAATG CTGAGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATCTGAATGC TGAGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATCTGAATGCT GAGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATCTGAATGCTG AGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATCTGAATG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01123.hp2 HG02630.hp1 NA18965.hp1 others(2): Show HG01123.hp2 HG02630.hp1 NA18965.hp1 NA18966.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0045 a0001c0001t0051 a0001c0001t0015 a0001c0001t0045 a0001c0001t0051	a0001c0001t0015g0001 a0001c0001t0015g0036 a0001c0001t0015g0094 others(2): Show a0001c0001t0015g0001 a0001c0001t0015g0036 a0001c0001t0015g0094 a0001c0001t0045g0075 a0001c0001t0051g0006	5	324	0.0154	245	c.28 others(256): Show c.2849_*3093dupCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACA TCTGAATGCTGAGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACAT CTGAATGCTGAGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATC TGAATGCTGAGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATCT GAATGCTGAGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATCTG AATGCTGAGGC	CNIH4	ENSG00000143771.12	transcript	ENST00000465271.6	protein_coding	5/5	3094	INFO_REALIGN_3_PRIME	chr1	TogoVar
COL20A1_chr20_63288186_63339806	63294172	C C	CGGGGGGA others(238): Show CGGGGGGAGGGGGAGTGCGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGC GGGGGAGGGGAGTGCGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCGGG GGGAGGGGAGTGCGGGGGAAGGGGGAGTGCGGGGGGAGGGGGAGTGTGGG GGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCAGGGGAGCGGAGTGTGGGG GAAGGGGGAGTGCGGGGGGAGCGGGGCTGCGGAGGAGCGGGAGTGT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02723.hp2 HG02055.hp1 HG02723.hp2	a0001 a0003 a0001 a0003	a0001c0014 a0003c0043 a0001c0014 a0003c0043	a0001c0014t0003 a0003c0043t0007 a0001c0014t0003 a0003c0043t0007	a0001c0014t0003g0136 a0003c0043t0007g0137 a0001c0014t0003g0136 a0003c0043t0007g0137	2	290	0.0069	245	c.-11 others(260): Show c.-11+902_-11+903insGAGGGGGAGTGCGGGGGAGGGGAGTGCGGG GGGAGGGGGAGTGCGGGGGAGGGGAGTGCGGGGGAGGGGAGTGCGGGGGG AGGGGGAGTGCGGGGGGAGGGGAGTGCGGGGGAAGGGGGAGTGCGGGGGG AGGGGGAGTGTGGGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCAGGGG AGCGGAGTGTGGGGGAAGGGGGAGTGCGGGGGGAGCGGGGCTGCGGAGGA GCGGGAGTGTGGGGG	COL20A1	ENSG00000101203.17	transcript	ENST00000358894.11	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL4A1_chr13_110143963_110312157	110255703	G G	GAGGAAGG others(238): Show GAGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGG AAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGA AAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAG GGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAG GCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAA	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0006 a0006	a0006c0042 a0006c0042	a0006c0042t0002 a0006c0042t0002	a0006c0042t0002g0280 a0006c0042t0002g0280	1	344	0.0029	245	c.85- others(262): Show c.85-12970_85-12969insTTCCTGCCTTTCCCCTCCCTTCCTGCCT TCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCC TTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTC CCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTC CTGCCTGCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCC TCCCTTCCTGCCTTCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COMMD10_chr5_116080025_116298287	116158291	C C	CTCCCTCT others(238): Show CTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCG TCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCC TCTCTCTCCGTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCT CTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCG TCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0052 a0002c0003t0001g0052	1	350	0.0029	245	c.510 others(264): Show c.510+24113_510+24114insTCCCTCTCCTCTCTCTCCCTCTCCTC TCTCTCCCTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCT CCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCCTC TCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTC TCTCTCCCTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCT CCGTCTCCTCTCTCTCCGT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6			chr5	TogoVar
COMMD10_chr5_116080025_116298287	116158291	C C	CTCCCTCT others(238): Show CTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCG TCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCC TCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCCTCTCCTCTCT CTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCGTCTCCTCTCTCTCCG TCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0051 a0002c0003t0001g0051	1	350	0.0029	245	c.510 others(264): Show c.510+24113_510+24114insTCCCTCTCCTCTCTCTCCCTCTCCTC TCTCTCCCTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCT CCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTC TCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTC TCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCT CCGTCTCCTCTCTCTCCGT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6			chr5	TogoVar
COMMD10_chr5_116080025_116298287	116158291	C C	CTCCGTCT others(238): Show CTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCC TCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCC TCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCT CTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCC TCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCT	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0165 a0001c0002t0001g0165	1	350	0.0029	245	c.510 others(264): Show c.510+24113_510+24114insTCCGTCTCCTCTCTCTCCGTCTCCTC TCTCTCCGTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCT CCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTC TCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTC TCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCT CCCTCTCCTCTCTCTCCCT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6			chr5	TogoVar
CRELD2_chr22_49913634_49932537	49926713	C C	CCCCACCC others(238): Show CCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCCACCCCGGGTCCC CTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCC CCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCCACCCCGGGTCCC CTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCC CCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCACCCCGGGT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01943.hp2 HG03041.hp2 HG01168.hp2 HG01943.hp2 HG03041.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0024 a0001c0001 a0008c0024	a0001c0001t0001 a0008c0024t0001 a0001c0001t0001 a0008c0024t0001	a0001c0001t0001g0020 a0008c0024t0001g0064 a0001c0001t0001g0020 a0008c0024t0001g0064	3	324	0.0093	245	c.101 others(262): Show c.1010-539_1010-538insACCCCGGGTCCCCTCTTGCCCCTCCCTC CCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCC CCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTC CCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCC CCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTC CCCCCACCCCGGGTCCC	CRELD2	ENSG00000184164.15	transcript	ENST00000328268.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr22	TogoVar

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