Joint Open Genome and Omics Platform (JoGo)

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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)

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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
ARHGAP39_chr8_144524179_144690846	144687013	C C	CCCCGTGA others(241): Show CCCCGTGACCACACACTGGCGGCGAGCACTTCCCACCCCGTGACCACTCA TTTACAGCGAGCACTTCTCACCCCCGTGACCACACACTGGCGGCGAGCAC TTCCCACCCCGTGACCACTCATTTACAGCGAGCACTTCTCACCCCCGTGA CCACACACTGGCGGCGAGCACTTCCCACCCCCGTGACCACGCACTGGCGG CGACCATTTCCCACCCCTGTGACCACGCACTGGCGGCGAGCACTTCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0105 a0001c0001t0016g0105	1	246	0.0041	248	c.-14 others(259): Show c.-1410_-1409insTGGGAAGTGCTCGCCGCCAGTGCGTGGTCACAGG GGTGGGAAATGGTCGCCGCCAGTGCGTGGTCACGGGGGTGGGAAGTGCTC GCCGCCAGTGTGTGGTCACGGGGGTGAGAAGTGCTCGCTGTAAATGAGTG GTCACGGGGTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACGGGGGTGAGA AGTGCTCGCTGTAAATGAGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAG TGTGTGGTCACGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1168		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687120	C C	CCCCGTGA others(241): Show CCCCGTGACCACGCACTGGCGGTGAGCACTTCCCACCCCTGTGACCACGC ACTGGCGGTGAGCACTTCCCACCCCTGTGACCACACACTGGCGGCGAGCA CTTCCCACCCCGTGACCACGCACTGGCGGCGAGCACTTCCCACCCCTGTG ACCACGCACTGGCGGTGAGCACTTCCCACCCCGTGACCACACACTAGCGG TGAGCACTTCCCACCCCCGTGACCACACACTGGCGGTGAGCACTTCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	246	0.0041	248	c.-15 others(259): Show c.-1517_-1516insTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGG GGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCA CCGCCAGTGCGTGGTCACAGGGGTGGGAAGTGCTCGCCGCCAGTGCGTGG TCACGGGGTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACAGGGGTGGGAA GTGCTCACCGCCAGTGCGTGGTCACAGGGGTGGGAAGTGCTCACCGCCAG TGCGTGGTCACGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1275		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687355	G G	GGTGAGCA others(241): Show GGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCA CCCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACTC ATTTACAGCGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCAC TTCCCACCCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCCGTG ACCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACACATTTACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0014 a0001c0003t0001g0014	1	246	0.0041	248	c.-17 others(259): Show c.-1752_-1751insTGTAAATGTGTGGTCACGGGGTGGGAAGTGCTCA CCGCCAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACCGCCAGTGTGTGG TCACGGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAA GTGCTCGCTGTAAATGAGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGT GTGTGGTCACGGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGG TGGGAAGTGCTCAC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1510		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687461	G G	GGTGAGCA others(241): Show GGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCA CCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACACA CTAGCGGTGAGCACTTCCCACCCCCGTGACCACACACTGGCGGCGAGCAC TTCCCACCCCCGTGACCACACATTTACAGTGAGCACTTCCCACCCCTGTG ACCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACACATTTACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02148.hp1 HG02683.hp2 NA18946.hp1 others(1): Show HG02148.hp1 HG02683.hp2 NA18946.hp1 NA18971.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0015 a0001c0002 a0001c0003 a0001c0015	a0001c0002t0001 a0001c0003t0001 a0001c0015t0001 a0001c0002t0001 a0001c0003t0001 a0001c0015t0001	a0001c0002t0001g0089 a0001c0002t0001g0162 a0001c0003t0001g0110 others(1): Show a0001c0002t0001g0089 a0001c0002t0001g0162 a0001c0003t0001g0110 a0001c0015t0001g0101	4	246	0.0163	248	c.-18 others(259): Show c.-1858_-1857insTGTAAATGTGTGGTCACGGGGTGGGAAGTGCTCA CCGCCAGTGTGTGGTCACAGGGGTGGGAAGTGCTCACTGTAAATGTGTGG TCACGGGGGTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACGGGGGTGGGA AGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAG TGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGG TGGGAAGTGCTCAC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1616		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687687	A A	ACCCCCGT others(241): Show ACCCCCGTGACCACACACTAGCAGTGAGCACTTCCCACCCCGTGACCACA CATTTACAGTGAACACTTCCCACCCCGTGACCACACACTGGCGGTGAGCA CTTCCCACCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGA CCACACATTTACAGTGAGCACTTCCCACCCCTGTGACCACACACTGGCGG TGAGCACTTCCCACCCCGTGACCACACACTGGCGGTGAGCACTTCCCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0242 a0001c0002t0001g0242	1	246	0.0041	248	c.-20 others(259): Show c.-2084_-2083insGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGG GGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACAGGGGTGGGAAGTGCTC ACTGTAAATGTGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGG TCACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAG TGTTCACTGTAAATGTGTGGTCACGGGGTGGGAAGTGCTCACTGCTAGTG TGTGGTCACGGGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1842		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687687	A A	ACCCCGTG others(241): Show ACCCCGTGACCACACATTTACAGTGAACACTTCCCACCCCGTGACCACAC ACTAGCGGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCAC TTCCCACCCCCGTGACCACACACTAGCAGTGAGCACTTCCCACCCCGTGA CCACTCATTTACAGCGAGCACTTCCCACCCCCGTGACCACACACTGGCGG CGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0222 a0001c0002t0001g0222	1	246	0.0041	248	c.-20 others(259): Show c.-2084_-2083insGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGG GGTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACGGGGGTGGGAAGTGCTC GCTGTAAATGAGTGGTCACGGGGTGGGAAGTGCTCACTGCTAGTGTGTGG TCACGGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAA GTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGTTCACTGTAAAT GTGTGGTCACGGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1842		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049663	G G	GGGGCAGA others(241): Show GGGGCAGAGGGGAACACATGGAGGGCAGAGGGGAACACATGGAGGGCAGA GGGGAACACATGGGGGCAGAGGGGAACACATGGAGGGCAGAGGGGAACAC ATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAACACATGGGGGGC AGAGGAGAACACATGGGGGCAGAGGGGGAACACATGGGGGGCAGAGGAGA ACACATGGGGGCAGAGGGGAACACATGGGGGCAGAGGGGAACACATGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0089 a0001c0001t0002g0089	1	308	0.0033	248	c.50 others(259): Show c.5067_*5068insTCCATGTGTTCCCCTCTGCCCCCATGTGTTCCCC TCTGCCCCCATGTGTTCTCCTCTGCCCCCCATGTGTTCCCCCTCTGCCCC CATGTGTTCTCCTCTGCCCCCCATGTGTTCCCCTCTGCCCCCATGTGTTC TCCTCTGCCCCCCATGTGTTCCCCTCTGCCCTCCATGTGTTCCCCTCTGC CCCCATGTGTTCCCCTCTGCCCTCCATGTGTTCCCCTCTGCCCTCCATGT GTTCCCCTCTGCCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2440		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049835	A A	AGGGGAAC others(241): Show AGGGGAACACATGGGGGCAGAGGAGAACACATGGGGGGCAGAGGAGAACA CATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAATACATGGGGGG CAGAGGAGAACACATGGGGGGCAGAGGAGAACACATGGGGGGCAGAGGAG AACACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAACACATGG AGGGCAGAGGAGAACACATGGGGGCAGAGGGGAACACATGGGGGCAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0145 a0002c0002t0001g0145	1	308	0.0033	248	c.48 others(259): Show c.4895_*4896insCTCTGCCCCCATGTGTTCCCCTCTGCCCCCATGT GTTCTCCTCTGCCCTCCATGTGTTCCCCTCTGCCCCCATGTGTTCTCCTC TGCCCCCCATGTGTTCTCCTCTGCCCCCCATGTGTTCTCCTCTGCCCCCC ATGTGTTCTCCTCTGCCCCCCATGTATTCCCCTCTGCCCCCATGTGTTCT CCTCTGCCCCCCATGTGTTCTCCTCTGCCCCCCATGTGTTCTCCTCTGCC CCCATGTGTTCCCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2268		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130050243	G G	GGGCAGAG others(241): Show GGGCAGAGGGGGAACACATGGGGGGCAGAGGAGAACACATGGGGGCAGAG GGGGAACACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAATAC ATGGGGGGCAGAGGAGAACACATGGGGGGCAGAGGAGAACACATGGGGGC AGAGGAGAACACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAA CACATGGGGGCAGAGGGGAACACATGGAGGGCAGAGGGGAACACATGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	308	0.0033	248	c.44 others(259): Show c.4487_*4488insTCCATGTGTTCCCCTCTGCCCTCCATGTGTTCCC CTCTGCCCCCATGTGTTCCCCTCTGCCCCCATGTGTTCTCCTCTGCCCCC CATGTGTTCTCCTCTGCCCCCATGTGTTCTCCTCTGCCCCCCATGTGTTC TCCTCTGCCCCCCATGTATTCCCCTCTGCCCCCATGTGTTCTCCTCTGCC CCCCATGTGTTCCCCCTCTGCCCCCATGTGTTCTCCTCTGCCCCCCATGT GTTCCCCCTCTGCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		1860		chr8	TogoVar
ASMT_chrX_1610059_1648081	1624505	C C	CCAGGCAG others(241): Show CCAGGCAGATGCTGGGAGGTGGGGGCTGACCCCAGGCAGATGCTGGGAGG TGGGGGCTGCACCCAGGCAGATGCTGGGAGGTGGGGGCTGCCCCCAGGCA GATGCTGGGAGGTGGTGGCTGCACCCAGGCAGATGCTGGGAGGTGGGGGC TGCCCCCAGGCAGATGCTGGGAGGTGGTGGCTGACCACAGGCAGATGCTG GGAGGTGGGGGCTGACCCCAGGCAGATGCTGGGAGGTGGTGGCTGACCA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0160 a0002c0002t0002g0160	1	223	0.0045	248	c.374 others(263): Show c.374+198_374+445dupCCCCAGGCAGATGCTGGGAGGTGGTGGCTG CACCCAGGCAGATGCTGGGAGGTGGGGGCTGCCCCCAGGCAGATGCTGGG AGGTGGTGGCTGACCACAGGCAGATGCTGGGAGGTGGGGGCTGACCCCAG GCAGATGCTGGGAGGTGGTGGCTGACCACAGGCAGATGCTGGGAGGTGGG GGCTGACCCCAGGCAGATGCTGGGAGGTGGGGGCTGCACCCAGGCAGATG CTGGGAGGTGGGGGCTGC	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
ATP10A_chr15_25673712_25868327	25757816	T T	TCACCTGC others(241): Show TCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCA TTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCT AACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTC CACCCTAACTCATTCCGATCACCTGCTCCACCCTAACTCATTCCGACCAC CTGCTCCACCCTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGAC	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0004 a0004	a0004c0058 a0004c0058	a0004c0058t0001 a0004c0058t0001	a0004c0058t0001g0051 a0004c0058t0001g0051	1	300	0.0033	248	c.655 others(267): Show c.655-21676_655-21675insGTCGGAATGAGTTAGGGTGGAGCAGG TGGTCGGAATGAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCA GGTGATCGGAATGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGT GGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGT TAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGA ATGAGTTAGGGTGGAGCAGGTG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10A_chr15_25673712_25868327	25757900	T T	TCACCTGC others(241): Show TCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCA TTCCGATCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACACT CATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACC CTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGC TCCACCCTAACTCATTCCGATCACCTGCTCCACCCTAACTCATTCCGAC	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0025 a0025	a0025c0031 a0025c0031	a0025c0031t0001 a0025c0031t0001	a0025c0031t0001g0133 a0025c0031t0001g0133	1	300	0.0033	248	c.655 others(267): Show c.655-21760_655-21759insGTCGGAATGAGTTAGGGTGGAGCAGG TGATCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGG AGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTA GGGTGGAGCAGGTGGTCGGAATGAGTGTGGAGCAGGTGGTCGGAATGAGT TAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGA ATGAGTTAGGGTGGAGCAGGTG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10A_chr15_25673712_25868327	25758085	A A	ACTCATTC others(241): Show ACTCATTCCGATCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCC ACCCTAACTCATTCCGATCACCTGCTCCACCCTAACTCATTCCGACCACC TGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTAACTCATTCCG ATCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTAACTC ATTCCGATCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	300	0.0033	248	c.655 others(267): Show c.655-21945_655-21944insGGTGGAGCAGGTGATCGGAATGAGTT AGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGATCGGAA TGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGA TCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGC AGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAGGG TGGAGCAGGTGATCGGAATGAG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10B_chr5_160558120_160857211	160653985	A A	AATATATG others(241): Show AATATATGTTGTATATACGTATATACATATATAAATATATGTTGTATATA CGTATATACATATATAAATATATGTTGTATATACGTATATACTATATATG TTGTATATACGTATATACAACATAAATATATGTTGTATATACGTATATAC AACATAAATATATGTTGTATATACGTATATACAACATAAATATATGTTGT ATATACGTATATACATATATAAATATATGTTGTATATACGTATATACAT	intron_variant intron_variant	MODIFIER	HG02647.hp1 NA19004.hp2 NA19007.hp1 HG02647.hp1 NA19004.hp2 NA19007.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0131 a0001c0002t0007g0167 a0001c0002t0007g0223 a0001c0002t0007g0131 a0001c0002t0007g0167 a0001c0002t0007g0223	3	236	0.0127	248	c.676 others(265): Show c.676-4730_676-4729insATGTATATACGTATATACAACATATATT TATATATGTATATACGTATATACAACATATATTTATGTTGTATATACGTA TATACAACATATATTTATGTTGTATATACGTATATACAACATATATTTAT GTTGTATATACGTATATACAACATATATAGTATATACGTATATACAACAT ATATTTATATATGTATATACGTATATACAACATATATTTATATATGTATA TACGTATATACAACATATAT	ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	7/25			chr5	TogoVar
ATP9B_chr18_79064394_79383283	79336105	A A	ATGCCCTC others(241): Show ATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCG TGTGCACCCTCCATGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCC CCAGCACCGCCGTGTGCACCCACCATGCCCTCCCTGGCACCAGGCGCTCC CCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGC ACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCG	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02735.hp1 HG02155.hp1 HG02735.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0252 a0002c0002t0002g0256 a0002c0002t0002g0252 a0002c0002t0002g0256	2	298	0.0067	248	c.202 others(265): Show c.2029-463_2029-462insCATGCCCTCCCTGGCACCAGGTGCTCCC CTCGCCCGTCCCCAGCACCGCCGTGTGCACCCACCATGCCCTCCCTGGCA CCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATG CCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGT GCACCCTCCGTGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCA GCACCGCCGTGTGCACCCTC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	17/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79336105	A A	ATGCCCTC others(241): Show ATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCG TGTGCACCCTCCATGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCC CCAGCACCGCCGTGTGCACCCACCATGCCCTCCCTGGCACCAGGTGCTCC CCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCGTGCCCTCCCTGGC ACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0098 a0001c0004t0003g0098	1	298	0.0034	248	c.202 others(265): Show c.2029-463_2029-462insCATGCCCTCCCTGGCACCAGGTGCTCCC CTCGCCCGTCCCCAGCACCGCCGTGTGCACCCACCATGCCCTCCCTGGCA CCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCGTG CCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGT GCACCCTCCGTGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCA GCACCGCCGTGTGCACCCTC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	17/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79336105	A A	ATGCCCTC others(241): Show ATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCG TGTGCACCCTCCGTGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCC CCAGCACCGCCGTGTGCACCCTCTGTGCCCTCCCTGGCACCAGGCGCTCC CCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCTGTGCCCTCCCTGGC ACCAGGCGCTCCCCTCGCCTGTCCCCAGCACCGCCGTGTGCACCCTCTG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0160 a0002c0002t0001g0160	1	298	0.0034	248	c.202 others(265): Show c.2029-463_2029-462insCGTGCCCTCCCTGGCACCAGGCGCTCCC CTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCTGTGCCCTCCCTGGCA CCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCTGTG CCCTCCCTGGCACCAGGCGCTCCCCTCGCCTGTCCCCAGCACCGCCGTGT GCACCCTCTGTGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCA GCACCGCCGTGTGCACCCTC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	17/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79336105	A A	ATGCCCTC others(241): Show ATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCG TGTGCACCCTCCGTGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCC CCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCC CCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCGTGCCCTCCCTGGC ACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCTG	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0258 a0002c0002t0004g0258	1	298	0.0034	248	c.202 others(265): Show c.2029-463_2029-462insCGTGCCCTCCCTGGCACCAGGTGCTCCC CTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCA CCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCGTG CCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGT GCACCCTCTGTGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCA GCACCGCCGTGTGCACCCTC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	17/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79336105	A A	ATGCCCTC others(241): Show ATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCG TGTGCACCCTCCGTGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCC CCAGCACCGCCGTGTGCACCCTCCGTGCCCTCCCTGGCACCAGGCGCTCC CCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCGTGCCCTCCCTGGC ACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCG	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	298	0.0034	248	c.202 others(265): Show c.2029-463_2029-462insCGTGCCCTCCCTGGCACCAGGTGCTCCC CTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCGTGCCCTCCCTGGCA CCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCGTG CCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGT GCACCCTCCGTGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCA GCACCGCCGTGTGCACCCTC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	17/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79336118	C C	CACCAGGC others(241): Show CACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCG TGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGT GTGCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCC CAGCACCGCCGTGTGCACCCTCCGTGCCCTCCCTGGCACCAGGTGCTCCC CTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0197 a0002c0005t0001g0197	1	298	0.0034	248	c.202 others(265): Show c.2029-463_2029-462insCGTGCCCTCCCTGGCACCAGGCGCTCCC CTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCA CCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCGTG CCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGT GCACCCTCCATGCCCTCCCTGGTACCAGGCGCTCCCCTCGCCCGTCCCCA GCACCGCCGTGTGCACCCTC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	17/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79336125	C C	CGCTCCCC others(241): Show CGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCGTGCCCTC CCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACC CTCCATGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACC GCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCC GTCCCCAGCACCGCCGTGTGCACCCTCCGTGCCCTCCCTGGCACCAGGT	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	298	0.0034	248	c.202 others(265): Show c.2029-463_2029-462insCGTGCCCTCCCTGGCACCAGGCGCTCCC CTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCA CCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATG CCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGT GCACCCTCCGTGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCA GCACCGCCGTGTGCACCCTC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	17/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79336125	C C	CGCTCCCC others(241): Show CGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCTGTGCCCTC CCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACC CTCTGTGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACC GCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCC GTCCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGT	intron_variant intron_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0152 a0001c0003t0003g0152	1	298	0.0034	248	c.202 others(265): Show c.2029-429_2029-428insCGTCCCCAGCACCGCCGTGTGCACCCTC TGTGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCC GTGTGCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTC CCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGTGCTC CCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCTGTGCCCTCCCTGG CACCAGGCGCTCCCCTCGCC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	17/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79336138	C C	CGTCCCCA others(241): Show CGTCCCCAGCACCGCCGTGTGCACCCTCCGTGCCCTCCCTGGCACCAGGC GCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCC CTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCC TCCGTGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCG CCGTGTGCACCCTCTGTGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0190 a0002c0005t0001g0190	1	298	0.0034	248	c.202 others(265): Show c.2029-463_2029-462insCGTGCCCTCCCTGGCACCAGGCGCTCCC CTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCA CCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCGTG CCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGT GCACCCTCTGTGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCTGTCCCCA GCACCGCCGTGTGCACCCTC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	17/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79336167	G G	GTGCCCTC others(241): Show GTGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCG TGTGCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCC CCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCC CCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCGTGCCCTCCCTGGC ACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCA	intron_variant intron_variant	MODIFIER	HG02155.hp2 NA18970.hp2 HG02155.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0048 a0001c0001t0001g0006 a0001c0001t0001g0048	2	298	0.0067	248	c.202 others(265): Show c.2029-442_2029-441insTGCTCCCCTCGCCCGTCCCCAGCACCGC CGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGT CCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGCGCT CCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCGTGCCCTCCCTG GCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCC ATGCCCTCCCTGGCACCAGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	17/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
B4GALNT3_chr12_454939_568509	511836	T T	TCTTCCAC others(241): Show TCTTCCACCTTCGAGCTTCCACCTTCCGCCTTCCACCTTCCACCTTCCAC CTTCCACCTTCCTTCCACCTTCCACCTTCCACCTTCGACCTTCCGCCTTC CGCCTTCCGCCTTCCACCTTCTGTCTTCCACCTTCCTTCCACCTTCCGCC TTCCACCTTCCTTCCACCTTCCACCTTCCACCTTCTTCCACCTTCCACCT TCCACCTTCTTCCACCTTCCACCTTCCACCTTCTTCCACCTTCTTCCAC	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02055.hp1 HG02647.hp1 others(3): Show HG01952.hp2 HG02055.hp1 HG02647.hp1 HG02896.hp2 HG02897.hp1 HG03486.hp2	a0001 a0003 a0006 others(1): Show a0001 a0003 a0006 a0007	a0001c0001 a0003c0004 a0006c0007 others(1): Show a0001c0001 a0003c0004 a0006c0007 a0007c0008	a0001c0001t0022 a0003c0004t0029 a0003c0004t0086 others(2): Show a0001c0001t0022 a0003c0004t0029 a0003c0004t0086 a0006c0007t0079 a0007c0008t0002	a0001c0001t0022g0036 a0001c0001t0022g0037 a0003c0004t0029g0300 others(3): Show a0001c0001t0022g0036 a0001c0001t0022g0037 a0003c0004t0029g0300 a0003c0004t0086g0302 a0006c0007t0079g0231 a0007c0008t0002g0004	6	394	0.0152	248	c.170 others(267): Show c.170-23319_170-23318insGAGCTTCCACCTTCCGCCTTCCACCT TCCACCTTCCACCTTCCACCTTCCTTCCACCTTCCACCTTCCACCTTCGA CCTTCCGCCTTCCGCCTTCCGCCTTCCACCTTCTGTCTTCCACCTTCCTT CCACCTTCCGCCTTCCACCTTCCTTCCACCTTCCACCTTCCACCTTCTTC CACCTTCCACCTTCCACCTTCTTCCACCTTCCACCTTCCACCTTCTTCCA CCTTCTTCCACCTTCCACCTTC	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GGGAGGGA others(241): Show GGGAGGGAGAGGAGGGGAGGGGGAGGGGGGGAGGGGAGGGGGAAGGAGAG GGGGGAGGGGGATGGGGAGGGGGAGGGGGAGGGGGAGAGGGGAGGAGGGG AGGGGAGGGAGAGGGGGAGGGAGGGGAGAGGGGAGGGGGAGGGGAGAGGG GGGAGGGGAGGGGAGGAGAGGGGAGGGAGGGGAGAGGGGGGAGGGAGATG GACTGGGGAGGAGGGGGATGGACTGGGGAGGAGGGGGATGGACTGGGGA	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0136 a0001c0002t0001g0136	1	298	0.0034	248	c.51+ others(261): Show c.51+438_51+439insTCCCCAGTCCATCCCCCTCCTCCCCAGTCCAT CCCCCTCCTCCCCAGTCCATCTCCCTCCCCCCTCTCCCCTCCCTCCCCTC TCCTCCCCTCCCCTCCCCCCTCTCCCCTCCCCCTCCCCTCTCCCCTCCCT CCCCCTCTCCCTCCCCTCCCCTCCTCCCCTCTCCCCCTCCCCCTCCCCCT CCCCATCCCCCTCCCCCCTCTCCTTCCCCCTCCCCTCCCCCCCTCCCCCT CCCCTCCTCTCCCTCC	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BFSP2_chr3_133395056_133480208	133425964	A A	AGGGGATG others(241): Show AGGGGATGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAG GGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAG GGGGAGGGGAGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGAGGGGA GAGGGAGGGGATGGGGAGGGGAGGGGGAGGGGGGGAGGGGGAGGGGGAGG GGAGGGGAGGGGGAGGGGAGGGGGAGGGGGGAGGGGAGGGGGAGGGGAT	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0115 a0002c0003t0001g0115	1	276	0.0036	248	c.490 others(267): Show c.490-21344_490-21343insAGGGGGAGGGGAGGGGGAGGGGAGGG GAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGG GAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGGAGGGGGAGG GGGAGGGGAGGGGAGAGGGAGGGGATGGGGAGGGGAGGGGGAGGGGGGGA GGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGGAGGGG AGGGGGAGGGGATGGGGATGGG	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
BTAF1_chr10_91918770_92036437	92012181	C C	CTCCCCTC others(241): Show CTCCCCTCCTCCCCTCCCCTCCTCTCCCCTCCTCCCCTCCCCTCCTCTCC TCTCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTC CCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCC TCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCT CCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCT	intron_variant intron_variant	MODIFIER	HG00544.hp1 NA18998.hp2 HG00544.hp1 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0012 a0001c0001t0001g0013	2	330	0.0061	248	c.431 others(265): Show c.4311+766_4311+767insTCCCCTCCTCCCCTCCCCTCCTCTCCCC TCCTCCCCTCCCCTCCTCTCCTCTCCTCCCCTCCCCTCCCCTCCCCTCCC CTCCTCCCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCC TCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCT CCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCC CTCCCCTCCTCCCCTCCCCT	BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding	30/37			chr10	TogoVar
BTAF1_chr10_91918770_92036437	92012181	C C	CTCCCCTC others(241): Show CTCCCCTCCTCCCCTCCCCTCCTCTCCCCTCCTCCCCTCCCCTCCTCTCC TCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCCCTCCTCCC CTCCCCTCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCTCCTCCCCTCCCC TCCTCCCCTCCCCTCCCCTTCTCCCCTCCCCTTCTCCCCTCCCCTCCCCT CCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03516.hp1 NA18906.hp2 others(1): Show HG02280.hp2 HG03516.hp1 NA18906.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 others(1): Show a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157	4	330	0.0121	248	c.431 others(265): Show c.4311+766_4311+767insTCCCCTCCTCCCCTCCCCTCCTCTCCCC TCCTCCCCTCCCCTCCTCTCCTCTCCTCCCCTCCCCTCCCCTCCTCCCCT CCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCCCCTC CCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTTCTCCCCTCC CCTTCTCCCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCC CTCCTCCCCTCCCCTCCCCT	BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding	30/37			chr10	TogoVar
BTAF1_chr10_91918770_92036437	92012181	C C	CTCCCCTC others(241): Show CTCCCCTCCTCCCCTCCCCTCCTCTCCCCTCCTCCCCTCCCCTCCTCTCC TCTCCTCTCCTCCCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTC CCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCC TCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCT CCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCT	intron_variant intron_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	330	0.0030	248	c.431 others(265): Show c.4311+766_4311+767insTCCCCTCCTCCCCTCCCCTCCTCTCCCC TCCTCCCCTCCCCTCCTCTCCTCTCCTCTCCTCCCCTCCCCTCCCCTCCC CTCCTCCCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCC TCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCT CCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCC CTCCCCTCCTCCCCTCCCCT	BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding	30/37			chr10	TogoVar
C13orf46_chr13_113948705_113979076	113949980	T T	TCCATCTG others(241): Show TCCATCTGTAGAGTGGGGTCCTCGCCCCCTGCCTCGGGCACCTCGGTGCT CCCATCTGTAGAGTGGGGTCATCACTCTTGCCTGAGGGACCTCAATGCAC CCATCTGTAGAGTGGGGTCATCACCCCCTGCCTCAGAGACCTCGGTGCTC CCATCTGGAGAATATGGTCATCACCCCCACCTTGGGGACCTCACTGCTCC CATCTGTAGAGTGGGGTCCTCACCCCCTGCCTTGGGCACCTCGGTGCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0044 a0002c0002t0044	a0002c0002t0044g0066 a0002c0002t0044g0066	1	414	0.0024	248	c.67 others(259): Show c.6792_*6793insGAGCACCGAGGTGCCCAAGGCAGGGGGTGAGGAC CCCACTCTACAGATGGGAGCAGTGAGGTCCCCAAGGTGGGGGTGATGACC ATATTCTCCAGATGGGAGCACCGAGGTCTCTGAGGCAGGGGGTGATGACC CCACTCTACAGATGGGTGCATTGAGGTCCCTCAGGCAAGAGTGATGACCC CACTCTACAGATGGGAGCACCGAGGTGCCCGAGGCAGGGGGCGAGGACCC CACTCTACAGATGG	C13orf46	ENSG00000283199.3	transcript	ENST00000636427.3	protein_coding		3724		chr13	TogoVar
C20orf96_chr20_265863_295750	278930	C C	CGGAGGGA others(241): Show CGGAGGGAGGGCGGGACGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGG GAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGGAGGGCGGGA CGGAGGGAGGGAGGGAGGGCGGGACGGAGGGCGGGAGGGCGGGACGGAGG GAGGGAGGGAGGGACGGAGGGCGGGACGGCGGGAGGGCGGGACGGAGGGA CGGAGGGAGGGCGGGACGGAGGGCGGGAGGGCGGGACGGAGGGAGGGAG	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0110 a0002c0002t0001g0110	1	410	0.0024	248	c.465 others(263): Show c.465+241_465+242insCTCCCTCCCTCCGTCCCGCCCTCCCGCCCT CCGTCCCGCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCGCCGTCCCGCC CTCCGTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCGCCCTCCGTCCCG CCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCCTCCGTCCCTCC CTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCT CCGTCCCGCCCTCCCTCC	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
C2CD3_chr11_74007718_74176002	74140052	G G	GAGGATTG others(241): Show GAGGATTGTAAGGAATGTCCCCCATTCCCTACAGGATTGTAAGGAATGTC CCCCATTCCCTACAGGATTGTAAGGAATGTCCCCCATTCCCTACAGGATT GTAAGGAATGTCCCCCATTCCCTACAGGATTGTAAGGAATGTCCCCCATT CCCTACAGGATTGTAAGGAATGTCCCCCATTCCCTACAGGATTGTAAGGA ATGTCCCCCATTCCCTACAGGATTGTAAGGAATGTCCCCCATTCCCTAC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0019 a0019	a0019c0045 a0019c0045	a0019c0045t0001 a0019c0045t0001	a0019c0045t0001g0224 a0019c0045t0001g0224	1	318	0.0031	248	c.484 others(263): Show c.484-225_484-224insGTAGGGAATGGGGGACATTCCTTACAATCC TGTAGGGAATGGGGGACATTCCTTACAATCCTGTAGGGAATGGGGGACAT TCCTTACAATCCTGTAGGGAATGGGGGACATTCCTTACAATCCTGTAGGG AATGGGGGACATTCCTTACAATCCTGTAGGGAATGGGGGACATTCCTTAC AATCCTGTAGGGAATGGGGGACATTCCTTACAATCCTGTAGGGAATGGGG GACATTCCTTACAATCCT	C2CD3	ENSG00000168014.18	transcript	ENST00000334126.12	protein_coding	3/32			chr11	TogoVar
CACNA1H_chr16_1148106_1226768	1185658	A A	ATAGGGCC others(241): Show ATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCAGCG TGCATAGGGCCGGGGGTGGGGTACGTGGGGGGCGGGCGAGTAGACGGCAT GTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGT AGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGT AGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCATGTG	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19009.hp2 NA19007.hp2 NA19009.hp2	a0001 a0039 a0001 a0039	a0001c0001 a0039c0099 a0001c0001 a0039c0099	a0001c0001t0001 a0039c0099t0006 a0001c0001t0001 a0039c0099t0006	a0001c0001t0001g0079 a0039c0099t0006g0054 a0001c0001t0001g0079 a0039c0099t0006g0054	2	338	0.0059	248	c.300 others(265): Show c.300-9309_300-9308insCCGGGGGCGGGGTACGTGGGGGGCGGGC GAGTAGACGGTCAGCGTGCATAGGGCCGGGGGTGGGGTACGTGGGGGGCG GGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCG GGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTG AGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTG AGTAGACGGCATGTGTAGGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1185658	A A	ATAGGGCC others(241): Show ATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCA TGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGCAT GTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGT AGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTGCGT AGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCGTGTG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0071 a0071	a0071c0124 a0071c0124	a0071c0124t0003 a0071c0124t0003	a0071c0124t0003g0103 a0071c0124t0003g0103	1	338	0.0030	248	c.300 others(265): Show c.300-9309_300-9308insCCGGGGGCGGGGTACGTGGGGGGCGGGC GAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCG GGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCG GGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTG AGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTG AGTAGACGGCGTGTGTAGGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1185711	C C	CATAGGGC others(241): Show CATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGTCGGC ATGCATAGGGCCGGAGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGCA TGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCG TAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCG TAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCATGT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0002 a0002	a0002c0109 a0002c0109	a0002c0109t0001 a0002c0109t0001	a0002c0109t0001g0080 a0002c0109t0001g0080	1	338	0.0030	248	c.300 others(265): Show c.300-9261_300-9260insATAGGGCCGGGGGCGGGGTACGTGGGGG GCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGAGGCGGGGTACGTGG GGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTAC GGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGG CAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGG CGGGTGAGTAGACGGCATGT	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34			chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1185766	C C	CATAGGGC others(241): Show CATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGC ATGCATAGGGCCGGAGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGCA TGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCG TAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCG TAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCATGT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0002 a0002	a0002c0109 a0002c0109	a0002c0109t0001 a0002c0109t0001	a0002c0109t0001g0080 a0002c0109t0001g0080	1	338	0.0030	248	c.300 others(265): Show c.300-9206_300-9205insATAGGGCCGGGGGCGGGGTACGTGGGGG GCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGAGGCGGGGTACGTGG GGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTAC GGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGG CAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGG CGGGTGAGTAGACGGCATGT	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34			chr16	TogoVar
CALCOCO2_chr17_48826035_48870245	48858046	A A	ATAGAATA others(241): Show ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAG	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG02109.hp1 HG02738.hp1 HG01258.hp2 HG02109.hp1 HG02738.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0007 a0003c0003t0004 a0003c0003t0007	a0003c0003t0004g0138 a0003c0003t0007g0022 a0003c0003t0007g0062 a0003c0003t0004g0138 a0003c0003t0007g0022 a0003c0003t0007g0062	3	328	0.0092	248	c.100 others(267): Show c.1008+1859_1008+1860insTAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAG	CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding	10/12			chr17	TogoVar
CALY_chr10_133319072_133341896	133333743	T T	TGGAAGGC others(241): Show TGGAAGGCTCTGAGGCGGGATAGGATCTGTGGACAGAAGGATCTGAGGGT GAAAGGATCTGAAAGGGGAAAGATCTGAGGGGAAAGCGCCTGAGGAGGGA AGGACCTGAGGGGGAAAAATCTGAGGGCGGAATGATCTGAGAGTGGAAGG CTCTGAACGGGGAAGGATCTGAGGAGGATCAGAAGGGTAAGGATCTGATG GTGGAAGGATCTGAGGGGGGAAGGACATGAGGGAGAAGGATCTGAGGGG	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0161 a0001c0001t0003g0161	1	250	0.0040	248	c.-21 others(265): Show c.-21+3090_-21+3091insCCCCTCAGATCCTTCTCCCTCATGTCCT TCCCCCCTCAGATCCTTCCACCATCAGATCCTTACCCTTCTGATCCTCCT CAGATCCTTCCCCGTTCAGAGCCTTCCACTCTCAGATCATTCCGCCCTCA GATTTTTCCCCCTCAGGTCCTTCCCTCCTCAGGCGCTTTCCCCTCAGATC TTTCCCCTTTCAGATCCTTTCACCCTCAGATCCTTCTGTCCACAGATCCT ATCCCGCCTCAGAGCCTTCC	CALY	ENSG00000130643.9	transcript	ENST00000252939.9	protein_coding	1/5			chr10	TogoVar
CALY_chr10_133319072_133341896	133333743	T T	TGGAAGGC others(241): Show TGGAAGGCTCTGAGGCGGGATAGGATCTGTGGACAGAAGGATCTGAGGGT GAAAGGATCTGAAAGGGGAAGGATCTGAGGGGAAAGCGCCTGAGGAGGGA AGGACCTGAGGGGGAAAAATCTGAGGGCGGAATGATCTGAGAGTGGAAGG CTCTGAACGGGGAAGGATCTGAGGAGGATCAGAAGGGTAAGGATCTGATG GTGGAAGGATCTGAGGGGGGAAGGACATGAAGGAGAAGGATCTGAGGGG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00738.hp1 HG01081.hp1 others(26): Show HG00280.hp2 HG00738.hp1 HG01081.hp1 HG01978.hp1 HG02004.hp1 HG02015.hp1 HG02129.hp1 HG02145.hp1 HG02148.hp1 HG02717.hp1 HG03017.hp2 HG03239.hp1 HG03654.hp1 HG03831.hp2 HG04204.hp1 NA18747.hp2 NA18939.hp2 NA18945.hp2 NA18964.hp2 NA18969.hp1 NA18973.hp1 NA18975.hp1 NA18995.hp2 NA18998.hp1 NA19010.hp2 NA19065.hp1 NA19067.hp1 NA19086.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0020	a0001c0001t0001g0051 a0001c0001t0002g0003 a0001c0001t0002g0013 others(17): Show a0001c0001t0001g0051 a0001c0001t0002g0003 a0001c0001t0002g0013 a0001c0001t0002g0021 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0050 a0001c0001t0002g0052 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0061 a0001c0001t0002g0168 a0001c0001t0006g0020 a0001c0001t0006g0053 a0001c0001t0020g0049	29	250	0.1160	248	c.-21 others(265): Show c.-21+3090_-21+3091insCCCCTCAGATCCTTCTCCTTCATGTCCT TCCCCCCTCAGATCCTTCCACCATCAGATCCTTACCCTTCTGATCCTCCT CAGATCCTTCCCCGTTCAGAGCCTTCCACTCTCAGATCATTCCGCCCTCA GATTTTTCCCCCTCAGGTCCTTCCCTCCTCAGGCGCTTTCCCCTCAGATC CTTCCCCTTTCAGATCCTTTCACCCTCAGATCCTTCTGTCCACAGATCCT ATCCCGCCTCAGAGCCTTCC	CALY	ENSG00000130643.9	transcript	ENST00000252939.9	protein_coding	1/5			chr10	TogoVar
CALY_chr10_133319072_133341896	133333743	T T	TGGAAGGC others(241): Show TGGAAGGCTCTGAGGCGGGATAGGATCTGTGGACAGAAGGATCTGAGGGT GAAAGGATCTGAAAGGGGAAGGATCTGAGGGGAAAGCGCCTGAGGAGGGA AGGACCTGAGGGGGAAAAATCTGAGGGCGGAATGATCTGAGAGTGGAAGG CTCTGAACGGGGAAGGATCTGAGGAGGATCAGAAGGGTAAGGATCTGATG GTGGAAGGATCTGAGGGGGGAAGGACATGAGGGAGAAGGATCTGAGGGG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01496.hp1 HG01928.hp1 others(14): Show HG01109.hp1 HG01496.hp1 HG01928.hp1 HG01943.hp1 HG01975.hp1 HG01993.hp2 HG02055.hp1 HG02145.hp2 HG02165.hp2 HG02257.hp2 HG02293.hp2 HG02572.hp1 HG03130.hp2 HG03209.hp2 NA18522.hp1 NA18522.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 others(3): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 a0001c0001t0012 a0001c0001t0014 a0001c0001t0018	a0001c0001t0001g0017 a0001c0001t0001g0032 a0001c0001t0001g0087 others(10): Show a0001c0001t0001g0017 a0001c0001t0001g0032 a0001c0001t0001g0087 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0153 a0001c0001t0001g0163 a0001c0001t0005g0152 a0001c0001t0008g0057 a0001c0001t0012g0031 a0001c0001t0014g0164 a0001c0001t0018g0083	17	250	0.0680	248	c.-21 others(265): Show c.-21+3090_-21+3091insCCCCTCAGATCCTTCTCCCTCATGTCCT TCCCCCCTCAGATCCTTCCACCATCAGATCCTTACCCTTCTGATCCTCCT CAGATCCTTCCCCGTTCAGAGCCTTCCACTCTCAGATCATTCCGCCCTCA GATTTTTCCCCCTCAGGTCCTTCCCTCCTCAGGCGCTTTCCCCTCAGATC CTTCCCCTTTCAGATCCTTTCACCCTCAGATCCTTCTGTCCACAGATCCT ATCCCGCCTCAGAGCCTTCC	CALY	ENSG00000130643.9	transcript	ENST00000252939.9	protein_coding	1/5			chr10	TogoVar
CAPN11_chr6_44153820_44189401	44181427	C C	CACCCAAC others(241): Show CACCCAACCACACCACACTCACACACACACACACACCCAACCACACCACA CTCACACACACACGCACACACACTCACAGACACAACCACACCACACACAC ACATACACACTCACATACAGACACAACCACACCACACTCACACACACACA TACACACTCACATACAGACACAACCACACCACACTCACACATACACACTC ACATACAGACACAACCACACCACACTCACACACACATACACACTCACAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00408.hp1 others(56): Show HG00099.hp2 HG00280.hp2 HG00408.hp1 HG00423.hp1 HG01099.hp2 HG01109.hp2 HG01243.hp2 HG01258.hp2 HG01943.hp1 HG01993.hp2 HG02040.hp2 HG02071.hp2 HG02080.hp2 HG02148.hp1 HG02683.hp2 HG02723.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG03209.hp1 HG03654.hp1 HG03710.hp2 HG03831.hp1 HG03927.hp1 HG03942.hp2 HG04184.hp1 HG04204.hp1 NA18943.hp2 NA18944.hp1 NA18946.hp1 NA18946.hp2 NA18948.hp2 NA18949.hp1 NA18950.hp2 NA18951.hp2 NA18954.hp1 NA18957.hp2 NA18963.hp1 NA18965.hp1 NA18974.hp2 NA18975.hp2 NA18980.hp1 NA18981.hp1 NA18983.hp2 NA18984.hp2 NA18989.hp1 NA18989.hp2 NA18998.hp2 NA18999.hp2 NA19001.hp1 NA19054.hp1 NA19056.hp1 NA19058.hp2 NA19067.hp2 NA19076.hp2 NA19077.hp1 NA19081.hp1 NA19082.hp1 NA20129.hp2	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0006 a0012 a0015	a0001c0001 a0002c0002 a0004c0004 others(3): Show a0001c0001 a0002c0002 a0004c0004 a0006c0005 a0012c0014 a0015c0018	a0001c0001t0001 a0002c0002t0001 a0004c0004t0001 others(5): Show a0001c0001t0001 a0002c0002t0001 a0004c0004t0001 a0004c0004t0004 a0004c0004t0006 a0006c0005t0001 a0012c0014t0001 a0015c0018t0008	a0001c0001t0001g0024 a0001c0001t0001g0411 a0002c0002t0001g0007 others(53): Show a0001c0001t0001g0024 a0001c0001t0001g0411 a0002c0002t0001g0007 a0004c0004t0001g0005 a0004c0004t0001g0013 a0004c0004t0001g0027 a0004c0004t0001g0031 a0004c0004t0001g0032 a0004c0004t0001g0051 a0004c0004t0001g0077 a0004c0004t0001g0100 a0004c0004t0001g0114 a0004c0004t0001g0118 a0004c0004t0001g0184 a0004c0004t0001g0186 a0004c0004t0001g0188 a0004c0004t0001g0202 a0004c0004t0001g0216 a0004c0004t0001g0229 a0004c0004t0001g0240 a0004c0004t0001g0241 a0004c0004t0001g0262 a0004c0004t0001g0272 a0004c0004t0001g0290 a0004c0004t0001g0297 a0004c0004t0001g0309 a0004c0004t0001g0317 a0004c0004t0001g0319 a0004c0004t0001g0326 a0004c0004t0001g0329 a0004c0004t0001g0335 a0004c0004t0001g0336 a0004c0004t0001g0355 a0004c0004t0001g0407 a0004c0004t0001g0433 a0004c0004t0004g0123 a0004c0004t0004g0171 a0004c0004t0004g0321 a0004c0004t0006g0076 a0004c0004t0006g0095 a0004c0004t0006g0182 a0006c0005t0001g0059 a0006c0005t0001g0084 a0006c0005t0001g0085 a0006c0005t0001g0168 a0006c0005t0001g0183 a0006c0005t0001g0261 a0006c0005t0001g0267 a0006c0005t0001g0327 a0006c0005t0001g0330 a0006c0005t0001g0349 a0006c0005t0001g0436 a0006c0005t0001g0438 a0012c0014t0001g0154 a0012c0014t0001g0332 a0015c0018t0008g0322	59	460	0.1283	248	c.193 others(265): Show c.1938+109_1938+110insCCAACCACACCACACTCACACACACACA CACACCCAACCACACCACACTCACACACACACGCACACACACTCACAGAC ACAACCACACCACACACACACATACACACTCACATACAGACACAACCACA CCACACTCACACACACACATACACACTCACATACAGACACAACCACACCA CACTCACACATACACACTCACATACAGACACAACCACACCACACTCACAC ACACATACACACTCACATAC	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CASQ2_chr1_115695021_115773714	115761402	A A	AAGAAGAA others(241): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAGGGGAAGGGGA AGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAG GGGAGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGA GAGGGAGAGGGAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAG	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0302 a0002c0004t0004g0302	1	364	0.0028	248	c.234 others(265): Show c.234+6905_234+6906insCTTCTTCTTCCTCTCCTTCTCCTTCTCC TTCTTCCTCTCCCTCTCCCTCTCCCTCTCCCCCTCCCCCTCCCCCTCCCC CTCCCCCTCCCCCTCCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCC CCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761439	A A	AAGAAGAA others(241): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAG GAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGA AGGGGAAGGGGAGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG GAGAGGGAGAGGGAGAGGGAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0298 a0002c0004t0004g0298	1	364	0.0028	248	c.234 others(265): Show c.234+6868_234+6869insCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCCT CTCCCTCTCCCTCTCCCTCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCT CCCCCTCCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCC TTCCCCTTCCCCTTCCCCTTCCTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761439	A A	AAGAAGAA others(241): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGGGAA GGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGG GGAAGGGGAGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAG AGGGAGAGGGAGAGGGAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0250 a0003c0005t0001g0250	1	364	0.0028	248	c.234 others(265): Show c.234+6868_234+6869insCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTCCTTCTCCTTCTCCTTCTT CCTCTCCCTCTCCCTCTCCCTCTCCCCCTCCCCCTCCCCCTCCCCCTCCC CCTCCCCCTCCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTC CCCTTCCCCTTCCCCTTCCCCTTCCCCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761439	A A	AAGAAGAA others(241): Show AAGAAGAAGAAGAGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGG GAAGGAGAGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGA GGGAGAGGGAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAG AAGAAGAAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGGAGAAGAAGAAGAAGAAGAAGGAG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0148 a0001c0001t0005g0148	1	364	0.0028	248	c.234 others(265): Show c.234+6868_234+6869insCTCCTTCTTCTTCTTCTTCTTCTCCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCCTCTTCTTCTTCTTCTTCTTCTTCCTCTCCTTCTCCTTCT CCTTCTTCCTCTCCCTCTCCCTCTCCCTCTCCCCCTCCCCCTCCCCCTCC CCCTCCCCCTCCCTCTCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTT CCCCTTCCTCTTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761440	A A	AGAAGAAG others(241): Show AGAAGAAGAAGAGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGG AAGGAGAGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAG GGAGAGGGAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGA AGAAGAAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGGAGAAGAAGAAGAAGAAGAAGG	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0147 a0001c0001t0005g0147	1	364	0.0028	248	c.234 others(265): Show c.234+6867_234+6868insCCTTCTTCTTCTTCTTCTTCTCCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCCTCTTCTTCTTCTTCTTCTTCTTCCTCTCCTTCTCCTTC TCCTTCTTCCTCTCCCTCTCCCTCTCCCTCTCCCCCTCCCCCTCCCCCTC CCCCTCCCCCTCCCTCTCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCT TCCCCTTCCTCTTCTTCTTC	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CC2D2B_chr10_95902975_96038745	95986353	G G	GGTGGCGG others(241): Show GGTGGCGGGTTCCCCTGATAATTCAACGTGGGCTCTTTTCTATTTCCCTA AGCGTTGGCTGGTCTGAGAAATAAAGGGAAAGAGTACAAAAGAGAGAAAC TTTAAAGCTGGGCATCACGGAACCTGCTGACATGTGATGTCTCCCCCAAA CACCCAGTTTTAAAATTTCTCTCTTTTGTACTCTTTCCCTTTATTTCTCA GACTGGCCAACACTTAGGGAAATAGAAAAGAACCCATGTTGAATTATCA	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0248 a0001c0001t0002g0248	1	312	0.0032	248	c.228 others(267): Show c.2287-1896_2287-1895insTGGCGGGTTCCCCTGATAATTCAACG TGGGCTCTTTTCTATTTCCCTAAGCGTTGGCTGGTCTGAGAAATAAAGGG AAAGAGTACAAAAGAGAGAAACTTTAAAGCTGGGCATCACGGAACCTGCT GACATGTGATGTCTCCCCCAAACACCCAGTTTTAAAATTTCTCTCTTTTG TACTCTTTCCCTTTATTTCTCAGACTGGCCAACACTTAGGGAAATAGAAA AGAACCCATGTTGAATTATCAG	CC2D2B	ENSG00000188649.16	transcript	ENST00000646931.3	protein_coding	19/34		INFO_REALIGN_3_PRIME	chr10	TogoVar
CC2D2B_chr10_95902975_96038745	95986358	C C	CGGGTTCC others(241): Show CGGGTTCCCCTGATAATTCAACGTGGGCTCTTTTCTATTTCCCTAAGCAT TGGCTGGTCTGAGAAATAAAGGGAAAGAGTACAAAAGAGAGAAACTTTAA AGCTGGGCATCACGGAACCTGCTGACATGTGATGTCTCCCCCAAACACCC AGTTTTAAAATTTCTCTCTTTTGTACTCTTTCCCTTTATTTCTCAGACTG GCCAACACTTAGGGAAATAGAAAAGAACCCATGTTGAATTATCAGGGGT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	312	0.0032	248	c.228 others(267): Show c.2287-1877_2287-1876insTTCAACGTGGGCTCTTTTCTATTTCC CTAAGCATTGGCTGGTCTGAGAAATAAAGGGAAAGAGTACAAAAGAGAGA AACTTTAAAGCTGGGCATCACGGAACCTGCTGACATGTGATGTCTCCCCC AAACACCCAGTTTTAAAATTTCTCTCTTTTGTACTCTTTCCCTTTATTTC TCAGACTGGCCAACACTTAGGGAAATAGAAAAGAACCCATGTTGAATTAT CAGGGGTGGGTTCCCCTGATAA	CC2D2B	ENSG00000188649.16	transcript	ENST00000646931.3	protein_coding	19/34		INFO_REALIGN_3_PRIME	chr10	TogoVar
CC2D2B_chr10_95902975_96038745	95986358	C C	CGGGTTCC others(241): Show CGGGTTCCCCTGATAATTCAACGTGGGCTCTTTTCTATTTCCCTAAGCGT TGGCTGGTCTGAGAAATAAAGGGAAAGAGTACAAAAGAGAGAAACTTTAA AGCTGAGCATCACGGAACCTGCTGACATGTGATGTCTCCCCCAAACACCC AGTTTTAAAATTTCTCTCTTTTGTACTCTTTCCCTTTATTTCTCAGACTG GCCAACACTTAGGGAAATAGAAAAGAACCCATGTTGAATTATCAGGGGT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0027 a0027	a0027c0037 a0027c0037	a0027c0037t0001 a0027c0037t0001	a0027c0037t0001g0021 a0027c0037t0001g0021	1	312	0.0032	248	c.228 others(267): Show c.2287-1877_2287-1876insTTCAACGTGGGCTCTTTTCTATTTCC CTAAGCGTTGGCTGGTCTGAGAAATAAAGGGAAAGAGTACAAAAGAGAGA AACTTTAAAGCTGAGCATCACGGAACCTGCTGACATGTGATGTCTCCCCC AAACACCCAGTTTTAAAATTTCTCTCTTTTGTACTCTTTCCCTTTATTTC TCAGACTGGCCAACACTTAGGGAAATAGAAAAGAACCCATGTTGAATTAT CAGGGGTGGGTTCCCCTGATAA	CC2D2B	ENSG00000188649.16	transcript	ENST00000646931.3	protein_coding	19/34		INFO_REALIGN_3_PRIME	chr10	TogoVar

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