Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
RTP5_chr2_241864729_241878823	241874948	G G	GAAATGCA others(311): Show GAAATGCAGGGACGGGGGTCCTAGGAGAAACCCCAATCCAGGTCTCAGGG GCCAAAATGCAGGGACGGGGGTCCCAGGAGAAACCCCAATCCAGGTCTCA GGGGCCAAAATGCAGGGACGGGGGTCCCAGGAGAAACCCCAATCCAGGGC CTCGGGGGCCAACTGCAGGGACAGGGGTCCCAGGAGAAACCCCAATCCAG GTCTCAGGGGCCGAAATGCAGGGACGGGGGTCCTAGGAGAAACCCCAATC CAGGTCTCAGGGGCCAAAATGCAGGGACAGGGGTCCCAGGAGAAACCCCA ATCCAGGTCTCAGGGGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0001 a0003c0003t0003g0001	1	365	0.0027	318	c.16 others(329): Show c.1674_*1675insAAATGCAGGGACGGGGGTCCTAGGAGAAACCCCA ATCCAGGTCTCAGGGGCCAAAATGCAGGGACGGGGGTCCCAGGAGAAACC CCAATCCAGGTCTCAGGGGCCAAAATGCAGGGACGGGGGTCCCAGGAGAA ACCCCAATCCAGGGCCTCGGGGGCCAACTGCAGGGACAGGGGTCCCAGGA GAAACCCCAATCCAGGTCTCAGGGGCCGAAATGCAGGGACGGGGGTCCTA GGAGAAACCCCAATCCAGGTCTCAGGGGCCAAAATGCAGGGACAGGGGTC CCAGGAGAAACCCCAATCCAGGTCTCAGGGGCCA	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding		1126		chr2	TogoVar
RTP5_chr2_241864729_241878823	241877949	T T	TGCTCCCC others(311): Show TGCTCCCCTCCCTCTCCTGGCCGCCCCCCAACCCCATCCCTCTCCTCGCT CCCCTCCCTCTCCTGGCCGCCCCCCAACCCCATCCCTCTCCTCGCTCCCC TCCCTCTCCCGGCCCCCCCACCCCCATCCCTCTCCTCGCTCCCCTCCCTC TCCCGGCCCCCCCACCCCTTCCCTCTCTCCTCGCTCCCCTCCCTCTCCCG GCCCCCCCCACCCCATCCCTCTCCTCGCTCCCCTCCCTCTCCTGGCCGTC CCCCACCCCCATCCCTCTCCTCGCTCCCCTCCCTCTCCTGGCCGCCCCCC CCACCCCATCCCTCTCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp2 HG04204.hp1 HG03927.hp2 HG04204.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0033 a0003c0003t0003 a0003c0003t0033	a0003c0003t0003g0034 a0003c0003t0033g0001 a0003c0003t0003g0034 a0003c0003t0033g0001	2	365	0.0055	318	c.46 others(329): Show c.4675_*4676insGCTCCCCTCCCTCTCCTGGCCGCCCCCCAACCCC ATCCCTCTCCTCGCTCCCCTCCCTCTCCTGGCCGCCCCCCAACCCCATCC CTCTCCTCGCTCCCCTCCCTCTCCCGGCCCCCCCACCCCCATCCCTCTCC TCGCTCCCCTCCCTCTCCCGGCCCCCCCACCCCTTCCCTCTCTCCTCGCT CCCCTCCCTCTCCCGGCCCCCCCCACCCCATCCCTCTCCTCGCTCCCCTC CCTCTCCTGGCCGTCCCCCACCCCCATCCCTCTCCTCGCTCCCCTCCCTC TCCTGGCCGCCCCCCCCACCCCATCCCTCTCCTC	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding		4127		chr2	TogoVar
RTP5_chr2_241864729_241878823	241877949	T T	TGCTCCCC others(311): Show TGCTCCCCTCCCTCTCCTGGCCGCCCCCCAACCCCATCCCTCTCCTCGCT CCCCTCCCTCTCCTGGCCGCCCCCCAACCCCATCCCTCTCCTCGCTCCCC TCCCTCTCCCGGCCCCCCCACCCCCATCCCTCTCCTCGCTCCCCTCCCTC TCCCGGCCCCCCCCACCCCTTCCCTCTCTCCTCGCTCCCCTCCCTCTCCC GGCCCCCCCACCCCATCCCTCTCCTCGCTCCCCTCCCTCTCCTGGCCGTC CCCCACCCCCATCCCTCTCCTCGCTCCCCTCCCTCTCCTGGCCGCCCCCC CCACCCCATCCCTCTCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0001 a0003c0003t0003g0001	1	365	0.0027	318	c.46 others(329): Show c.4675_*4676insGCTCCCCTCCCTCTCCTGGCCGCCCCCCAACCCC ATCCCTCTCCTCGCTCCCCTCCCTCTCCTGGCCGCCCCCCAACCCCATCC CTCTCCTCGCTCCCCTCCCTCTCCCGGCCCCCCCACCCCCATCCCTCTCC TCGCTCCCCTCCCTCTCCCGGCCCCCCCCACCCCTTCCCTCTCTCCTCGC TCCCCTCCCTCTCCCGGCCCCCCCACCCCATCCCTCTCCTCGCTCCCCTC CCTCTCCTGGCCGTCCCCCACCCCCATCCCTCTCCTCGCTCCCCTCCCTC TCCTGGCCGCCCCCCCCACCCCATCCCTCTCCTC	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding		4127		chr2	TogoVar
RTP5_chr2_241864729_241878823	241877949	T T	TGCTCCCC others(311): Show TGCTCCCCTCCCTCTCCTGGCCGCCCCCCAACCCCATCCCTCTCCTCGCT CCCCTCCCTCTCCTGGCCGCCCCCCAACCCCATCCCTCTCCTCGCTCCCC TCCCTCTCCCGGCCCCCCCCACCCCCATCCCTCTCCTCGCTCCCCTCCCT CTCCCGGCCCCCCCACCCCTTCCCTCTCTCCTCGCTCCCCTCCCTCTCCC GGCCCCCCCACCCCATCCCTCTCCTCGCTCCCCTCCCTCTCCTGGCCGTC CCCCACCCCCATCCCTCTCCTCGCTCCCCTCCCTCTCCTGGCCGCCCCCC CCACCCCATCCCTCTCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp1 NA19090.hp2 HG02135.hp1 NA19090.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0003c0003t0003 a0001c0001t0002 a0003c0003t0003	a0001c0001t0002g0007 a0003c0003t0003g0001 a0001c0001t0002g0007 a0003c0003t0003g0001	2	365	0.0055	318	c.46 others(329): Show c.4675_*4676insGCTCCCCTCCCTCTCCTGGCCGCCCCCCAACCCC ATCCCTCTCCTCGCTCCCCTCCCTCTCCTGGCCGCCCCCCAACCCCATCC CTCTCCTCGCTCCCCTCCCTCTCCCGGCCCCCCCCACCCCCATCCCTCTC CTCGCTCCCCTCCCTCTCCCGGCCCCCCCACCCCTTCCCTCTCTCCTCGC TCCCCTCCCTCTCCCGGCCCCCCCACCCCATCCCTCTCCTCGCTCCCCTC CCTCTCCTGGCCGTCCCCCACCCCCATCCCTCTCCTCGCTCCCCTCCCTC TCCTGGCCGCCCCCCCCACCCCATCCCTCTCCTC	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding		4127		chr2	TogoVar
RTP5_chr2_241864729_241878823	241878014	G G	GCCGCCCC others(311): Show GCCGCCCCCCAACCCCATCCCTCTCCTCGCTCCCCTCCCTCTCCCGGCCC CCCCACCCCCATCCCTCTCCTCGCTCCCCTCCCTCTCCCGGCCCCCCCAC CCCTTCCCTCTCTCCTCGCTCCCCTCCCTCTCCCGGCCCCCCCACCCCAT CCCTCTCCTCGCTCCCCTCCCTCTCCTGGCCGTCCCCCACCCCCATCCCT CTCCTCGCTCCCCTCCCTCTCCTGGCCGCCCCCCCCACCCCATCCCTCTC CTCGCTCCCCTCCCTCTCCTGGCCGCCCCCCAACCCCATCCCTCTCCTCG CTCCCCTCCCTCTCCCGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 HG02602.hp1 HG01123.hp1 HG02602.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0041 a0003c0003t0003 a0003c0003t0041	a0003c0003t0003g0001 a0003c0003t0041g0001 a0003c0003t0003g0001 a0003c0003t0041g0001	2	365	0.0055	318	c.47 others(329): Show c.4740_*4741insCCGCCCCCCAACCCCATCCCTCTCCTCGCTCCCC TCCCTCTCCCGGCCCCCCCACCCCCATCCCTCTCCTCGCTCCCCTCCCTC TCCCGGCCCCCCCACCCCTTCCCTCTCTCCTCGCTCCCCTCCCTCTCCCG GCCCCCCCACCCCATCCCTCTCCTCGCTCCCCTCCCTCTCCTGGCCGTCC CCCACCCCCATCCCTCTCCTCGCTCCCCTCCCTCTCCTGGCCGCCCCCCC CACCCCATCCCTCTCCTCGCTCCCCTCCCTCTCCTGGCCGCCCCCCAACC CCATCCCTCTCCTCGCTCCCCTCCCTCTCCCGGC	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding		4192		chr2	TogoVar
RWDD1_chr6_116566504_116602675	116577507	G G	GCATGTTC others(311): Show GCATGTTCAACACTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGC AAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCT GACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0120 a0001c0001t0002g0120	1	378	0.0027	318	c.74- others(333): Show c.74-2772_74-2771insTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCAC TGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCT CCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCATGTTCAACACTTCT	RWDD1	ENSG00000111832.13	transcript	ENST00000466444.7	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
RYR2_chr1_237037184_237838988	237405894	T T	TGAAAAAA others(311): Show TGAAAAAACTTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03453.hp1 HG02559.hp2 HG03453.hp1	a0001 a0001	a0001c0026 a0001c0028 a0001c0026 a0001c0028	a0001c0026t0004 a0001c0028t0007 a0001c0026t0004 a0001c0028t0007	a0001c0026t0004g0055 a0001c0028t0007g0062 a0001c0026t0004g0055 a0001c0028t0007g0062	2	100	0.0200	318	c.774 others(337): Show c.774-11141_774-11140insTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGG CTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTC GATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGCCACCGCGCCCGGCCGAAAAAACTTTCTT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	10/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD4A_chr14_54562128_54798312	54709298	C C	CAAAAAAC others(311): Show CAAAAAACAGAAGAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCA TCCTGGTTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGCGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGAT TGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0025 a0001c0001t0004g0025	1	262	0.0038	318	c.715 others(335): Show c.715+6732_715+6733insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATC GAGACCATCCTGGTTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGCGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAG CCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAG ACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAACAGAAGAA	SAMD4A	ENSG00000020577.14	transcript	ENST00000554335.6	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
SARDH_chr9_133658560_133743352	133669212	C C	CTCCCTCT others(311): Show CTCCCTCTCCCCTTACCCTCCCTCTCCCTCACCCTCCCTCTCCCTCACCC TCCCTCTCTCTCTCCTTCCCTCTCCCTTACCCTCCCTCTCCCTCACCTTC CCTCTCCCTCACCCTCCATCTCCCTCACCCTCCCTCTCCCCTTACCCTCC CTCTCCCCTCATCCTCCCTCACCCTCCCTCTCCCTCACCTTCCCTCTCCC TCACCTTCCCTCTCCCTCACCTTCCCTCTCCCTTACCCTCCATCTCCCTC ACCCTCCCTCTCCCCTTACCCTCCCTCTCCCTCACCTTCCCTCTCCCTTA CCCTCCCTCTCCCTCACCT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0002 a0002	a0002c0034 a0002c0034	a0002c0034t0003 a0002c0034t0003	a0002c0034t0003g0060 a0002c0034t0003g0060	1	262	0.0038	318	c.249 others(337): Show c.2495+1371_2495+1372insAGGTGAGGGAGAGGGAGGGTAAGGGA GAGGGAAGGTGAGGGAGAGGGAGGGTAAGGGGAGAGGGAGGGTGAGGGAG ATGGAGGGTAAGGGAGAGGGAAGGTGAGGGAGAGGGAAGGTGAGGGAGAG GGAAGGTGAGGGAGAGGGAGGGTGAGGGAGGATGAGGGGAGAGGGAGGGT AAGGGGAGAGGGAGGGTGAGGGAGATGGAGGGTGAGGGAGAGGGAAGGTG AGGGAGAGGGAGGGTAAGGGAGAGGGAAGGAGAGAGAGAGGGAGGGTGAG GGAGAGGGAGGGTGAGGGAGAGGGAGGGTAAGGGGAGAGGGA	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SARDH_chr9_133658560_133743352	133669235	T T	TCCCTCAC others(311): Show TCCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCTCTCTCCTTCCCTCTC CCTTACCCTCCCTCTCCCTCACCTTCCCTCTCCCTCACCCTCCATCTCCC TCACCCTCCCTCTCCCCTTACCCTCCCTCTCCCCTCATCCTCCCTCACCC TCCCTCTCCCTCACCTTCCCTCTCCCTCACCTTCCCTCTCCCTTACCCTC CATCTCCCTCACCCTCCCTCTCCCCTTACCCTCCCTCTCCCTCACCTTCC CTCTCCCTTACCCTCCCTCTCCCTCACCTTCCCTCTCCCTCACCCTCCCT CTCCCTCACCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0168 a0002c0002t0003g0168	1	262	0.0038	318	c.249 others(337): Show c.2495+1348_2495+1349insGGAGGGGAGGGTGAGGGAGAGGGAGG GTGAGGGAGAGGGAAGGTGAGGGAGAGGGAGGGTAAGGGAGAGGGAAGGT GAGGGAGAGGGAGGGTAAGGGGAGAGGGAGGGTGAGGGAGATGGAGGGTA AGGGAGAGGGAAGGTGAGGGAGAGGGAAGGTGAGGGAGAGGGAGGGTGAG GGAGGATGAGGGGAGAGGGAGGGTAAGGGGAGAGGGAGGGTGAGGGAGAT GGAGGGTGAGGGAGAGGGAAGGTGAGGGAGAGGGAGGGTAAGGGAGAGGG AAGGAGAGAGAGAGGGAGGGTGAGGGAGAGGGAGGGTGAGGG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SARDH_chr9_133658560_133743352	133669235	T T	TCCCTCAC others(311): Show TCCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCTCTCTCCTTCCCTCTC CCTTACCCTCCCTCTCCCTCACCTTCCCTCTCCCTCACCCTCCATCTCCC TCACCCTCCCTCTCCCCTTACCCTCCCTCTCCCCTCATCCTCCCTCACCC TCCCTCTCCCTCACCTTCCCTCTCCCTCACCTTCCCTCTCCCTTACCCTC CATCTCCCTCACCCTCCCTCTCCCCTTACCCTCCCTCTCCCTCACCTTCC CTCTCCCTTACCCTCCCTCTCCCTCACCTTCCCTCTCCCTCACCCTCCCT CTCCCTCACCCTCCCTCTC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01433.hp2 HG02280.hp2 others(6): Show HG01167.hp1 HG01433.hp2 HG02280.hp2 HG02486.hp2 HG03139.hp2 NA19003.hp2 NA19007.hp1 NA19085.hp2 NA20905.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0016 a0001c0033 others(6): Show a0001c0001 a0001c0016 a0001c0033 a0001c0048 a0002c0005 a0002c0008 a0002c0043 a0002c0060 a0003c0037	a0001c0001t0004 a0001c0016t0004 a0001c0033t0001 others(6): Show a0001c0001t0004 a0001c0016t0004 a0001c0033t0001 a0001c0048t0002 a0002c0005t0003 a0002c0008t0003 a0002c0043t0003 a0002c0060t0004 a0003c0037t0003	a0001c0001t0004g0071 a0001c0016t0004g0064 a0001c0033t0001g0146 others(6): Show a0001c0001t0004g0071 a0001c0016t0004g0064 a0001c0033t0001g0146 a0001c0048t0002g0244 a0002c0005t0003g0125 a0002c0008t0003g0177 a0002c0043t0003g0141 a0002c0060t0004g0017 a0003c0037t0003g0126	9	262	0.0344	318	c.249 others(337): Show c.2495+1348_2495+1349insGAGAGGGAGGGTGAGGGAGAGGGAGG GTGAGGGAGAGGGAAGGTGAGGGAGAGGGAGGGTAAGGGAGAGGGAAGGT GAGGGAGAGGGAGGGTAAGGGGAGAGGGAGGGTGAGGGAGATGGAGGGTA AGGGAGAGGGAAGGTGAGGGAGAGGGAAGGTGAGGGAGAGGGAGGGTGAG GGAGGATGAGGGGAGAGGGAGGGTAAGGGGAGAGGGAGGGTGAGGGAGAT GGAGGGTGAGGGAGAGGGAAGGTGAGGGAGAGGGAGGGTAAGGGAGAGGG AAGGAGAGAGAGAGGGAGGGTGAGGGAGAGGGAGGGTGAGGG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SARDH_chr9_133658560_133743352	133669235	T T	TCCCTCAC others(311): Show TCCCTCACCCTCCCTCTCCCTCACCCTCCCTGTCTCTCTCCTTCCCTCTC CCTTACCCTCCCTCTCCCTCACCTTCCCTCTCCCTCACCCTCCATCTCCC TCACCCTCCCTCTCCCCTTACCCTCCCTCTCCCCTCATCCTCCCTCACCC TCCCTCTCCCTCACCTTCCCTCTCCCTCACCTTCCCTCTCCCTTACCCTC CATCTCCCTCACCCTCCCTCTCCCCTTACCCTCCCTCTCCCTCACCTTCC CTCTCCCTTACCCTCCCTCTCCCTCACCTTCCCTCTCCCTCACCCTCCCT CTCCCTCACCCTCCCTCTC	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0004 a0001c0006t0004	a0001c0006t0004g0212 a0001c0006t0004g0212	1	262	0.0038	318	c.249 others(337): Show c.2495+1348_2495+1349insGAGAGGGAGGGTGAGGGAGAGGGAGG GTGAGGGAGAGGGAAGGTGAGGGAGAGGGAGGGTAAGGGAGAGGGAAGGT GAGGGAGAGGGAGGGTAAGGGGAGAGGGAGGGTGAGGGAGATGGAGGGTA AGGGAGAGGGAAGGTGAGGGAGAGGGAAGGTGAGGGAGAGGGAGGGTGAG GGAGGATGAGGGGAGAGGGAGGGTAAGGGGAGAGGGAGGGTGAGGGAGAT GGAGGGTGAGGGAGAGGGAAGGTGAGGGAGAGGGAGGGTAAGGGAGAGGG AAGGAGAGAGACAGGGAGGGTGAGGGAGAGGGAGGGTGAGGG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SDCBP_chr8_58548261_58587858	58586439	T T	TAAAAAGG others(311): Show TAAAAAGGATAATATCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACC ATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGA TTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02630.hp2 HG02895.hp1 others(2): Show HG01884.hp1 HG02630.hp2 HG02895.hp1 HG03471.hp1 HG03516.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0006 a0001c0001t0013 a0003c0005t0006 a0001c0001t0006 a0001c0001t0013 a0003c0005t0006	a0001c0001t0006g0097 a0001c0001t0006g0098 a0001c0001t0006g0099 others(2): Show a0001c0001t0006g0097 a0001c0001t0006g0098 a0001c0001t0006g0099 a0001c0001t0013g0157 a0003c0005t0006g0100	5	388	0.0129	318	c.46 others(329): Show c.4699_*4700insAAAAAGGATAATATCGGCCGGGCGCGGTGGCTCA CGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGT CAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTA AAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGC TACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCT TGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGA CAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAA	SDCBP	ENSG00000137575.12	transcript	ENST00000260130.9	protein_coding		3582		chr8	TogoVar
SEL1L3_chr4_25742433_25867988	25845693	C C	CAAGAAAT others(311): Show CAAGAAATTGATCACTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAA AATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCC GAGATCGCGCCACTGCACTCCAGCCTGCGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0008 a0001c0001t0010g0008	1	312	0.0032	318	c.733 others(335): Show c.733+1600_733+1601insTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCGCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTG CAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGCCAGTGATCAATTTCTT	SEL1L3	ENSG00000091490.11	transcript	ENST00000399878.8	protein_coding	2/23			chr4	TogoVar
SERPINB5_chr18_63471958_63510085	63482700	T T	TAAAAATT others(311): Show TAAAAATTACCGAGGACCCCGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0002 a0004c0007t0002	a0004c0007t0002g0164 a0004c0007t0002g0164	1	410	0.0024	318	c.-7- others(333): Show c.-7-1703_-7-1702insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAATTACCGAGGACCCC	SERPINB5	ENSG00000206075.14	transcript	ENST00000382771.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
SF3A3_chr1_37951975_37995022	37967099	T T	TAGAAAAA others(311): Show TAGAAAAATTAGACCAGGCGCGGTGGCTCACGCCTGTAATCCTAGCACTT TGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCGAGACCATTCT GGCTAACACGGTGAAACCTCGTCTCTACTAAAAATACAAAAAAAATAGCT GGGCGTGGTGGCGGGCGCCTGCAGTCCCAGCTACTCGGGAATGAGGCAGG AGAATGGCGTGAACCCGGGAGGTGGAGCGTGCAGTGAGCCAAGATCGCGC CACTGCACTCCAGCCTGGGGACAGAGCGACACTCCGTCTCAAAAAAAAAA AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0323 a0001c0002t0002g0323	1	400	0.0025	318	c.137 others(335): Show c.1372+944_1372+945insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TGAGACGGAGTGTCGCTCTGTCCCCAGGCTGGAGTGCAGTGGCGCGATCT TGGCTCACTGCACGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCA TTCCCGAGTAGCTGGGACTGCAGGCGCCCGCCACCACGCCCAGCTATTTT TTTTGTATTTTTAGTAGAGACGAGGTTTCACCGTGTTAGCCAGAATGGTC TCGATCTCCTGACCTCGTGATCCACCCGTCTCGGCCTCCCAAAGTGCTAG GATTACAGGCGTGAGCCACCGCGCCTGGTCTAATTTTTCT	SF3A3	ENSG00000183431.12	transcript	ENST00000373019.5	protein_coding	15/16			chr1	TogoVar
SF3A3_chr1_37951975_37995022	37967099	T T	TAGAAAAA others(311): Show TAGAAAAATTAGACCGGGCGCGGTGGCTCACGCCTGTAATCCTAGCACTT TGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCGAGACCATTCT GGCTAACACGGTGAAACCTCGTCTCTACTAAAAATACAAAAAAAATAGCT GGGCGTGGTGGCGGGCGCCTGCAGTCCCAGCTACTCGGGAATGAGGCAGG AGAATGGCGTGAACCCGGGAGGTGGAGCGTGCAGTGAGCCAAGATCGCGC CACTGCACTCCAGCCTGGCGACAGAGCGACACTCCGTCTCAAAAAAAAAA AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0363 a0001c0001t0041g0363	1	400	0.0025	318	c.137 others(335): Show c.1372+944_1372+945insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TGAGACGGAGTGTCGCTCTGTCGCCAGGCTGGAGTGCAGTGGCGCGATCT TGGCTCACTGCACGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCA TTCCCGAGTAGCTGGGACTGCAGGCGCCCGCCACCACGCCCAGCTATTTT TTTTGTATTTTTAGTAGAGACGAGGTTTCACCGTGTTAGCCAGAATGGTC TCGATCTCCTGACCTCGTGATCCACCCGTCTCGGCCTCCCAAAGTGCTAG GATTACAGGCGTGAGCCACCGCGCCCGGTCTAATTTTTCT	SF3A3	ENSG00000183431.12	transcript	ENST00000373019.5	protein_coding	15/16			chr1	TogoVar
SF3A3_chr1_37951975_37995022	37967099	T T	TAGAAAAA others(311): Show TAGAAAAATTAGACCGGGCGCGGTGGCTCACGCCTGTAATCCTAGCACTT TGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCGAGACCATTCT GGCTAACACGGTGAAACCTCGTCTCTACTAAAAATACAAAAAAAATAGCT GGGCGTGGTGGCGGGCGCCTGCAGTCCCAGCTACTCGGGAATGAGGCAGG AGAATGGCGTGAACCCGGGAGGTGGAGCGTGCAGTGAGCCAAGATCGCGC CACTGCACTCCAGCCTGGGGACAGAGCGACACTCCGTCTCAAAAAAAAAA AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00408.hp1 others(108): Show HG00099.hp2 HG00280.hp1 HG00408.hp1 HG00423.hp2 HG00597.hp1 HG00621.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01167.hp1 HG01168.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01358.hp2 HG01433.hp1 HG01515.hp2 HG01517.hp2 HG01943.hp2 HG01975.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp2 HG02080.hp2 HG02109.hp2 HG02145.hp1 HG02257.hp2 HG02273.hp2 HG02280.hp1 HG02300.hp1 HG02523.hp1 HG02559.hp1 HG02602.hp2 HG02615.hp1 HG02630.hp1 HG02683.hp2 HG02723.hp2 HG02818.hp1 HG02897.hp2 HG02922.hp1 HG02976.hp1 HG03139.hp1 HG03195.hp2 HG03239.hp1 HG03453.hp2 HG03471.hp2 HG03491.hp2 HG03516.hp2 HG03669.hp2 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03942.hp2 HG04115.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18747.hp2 NA18939.hp1 NA18941.hp2 NA18943.hp1 NA18947.hp2 NA18964.hp2 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18970.hp2 NA18971.hp2 NA18975.hp1 NA18978.hp2 NA18979.hp1 NA18984.hp1 NA18986.hp1 NA18989.hp2 NA18990.hp1 NA18993.hp2 NA18998.hp1 NA19006.hp2 NA19007.hp1 NA19009.hp1 NA19030.hp2 NA19043.hp1 NA19056.hp2 NA19058.hp2 NA19068.hp1 NA19075.hp2 NA19080.hp1 NA19084.hp1 NA19084.hp2 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA20300.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0016 a0001c0001t0024 a0001c0001t0028 a0001c0001t0037 a0001c0002t0002 a0001c0002t0004 a0001c0002t0007 a0001c0002t0015 a0001c0002t0020 a0001c0002t0027 a0001c0002t0034 a0001c0002t0036 a0001c0002t0044	a0001c0001t0001g0027 a0001c0001t0001g0034 a0001c0001t0001g0038 others(101): Show a0001c0001t0001g0027 a0001c0001t0001g0034 a0001c0001t0001g0038 a0001c0001t0001g0044 a0001c0001t0001g0070 a0001c0001t0001g0098 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0112 a0001c0001t0001g0137 a0001c0001t0001g0141 a0001c0001t0001g0144 a0001c0001t0001g0173 a0001c0001t0001g0178 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0004g0142 a0001c0001t0004g0196 a0001c0001t0004g0203 a0001c0001t0004g0231 a0001c0001t0004g0309 a0001c0001t0004g0321 a0001c0001t0007g0304 a0001c0001t0008g0113 a0001c0001t0008g0125 a0001c0001t0009g0011 a0001c0001t0009g0364 a0001c0001t0009g0367 a0001c0001t0009g0368 a0001c0001t0009g0369 a0001c0001t0016g0371 a0001c0001t0024g0370 a0001c0001t0028g0312 a0001c0001t0037g0030 a0001c0002t0002g0004 a0001c0002t0002g0005 a0001c0002t0002g0006 a0001c0002t0002g0007 a0001c0002t0002g0008 a0001c0002t0002g0009 a0001c0002t0002g0016 a0001c0002t0002g0150 a0001c0002t0002g0151 a0001c0002t0002g0157 a0001c0002t0002g0159 a0001c0002t0002g0161 a0001c0002t0002g0164 a0001c0002t0002g0206 a0001c0002t0002g0228 a0001c0002t0002g0229 a0001c0002t0002g0230 a0001c0002t0002g0233 a0001c0002t0002g0234 a0001c0002t0002g0235 a0001c0002t0002g0238 a0001c0002t0002g0244 a0001c0002t0002g0245 a0001c0002t0002g0246 a0001c0002t0002g0247 a0001c0002t0002g0250 a0001c0002t0002g0252 a0001c0002t0002g0255 a0001c0002t0002g0256 a0001c0002t0002g0259 a0001c0002t0002g0260 a0001c0002t0002g0261 a0001c0002t0002g0263 a0001c0002t0002g0266 a0001c0002t0002g0268 a0001c0002t0002g0269 a0001c0002t0002g0271 a0001c0002t0002g0272 a0001c0002t0002g0276 a0001c0002t0002g0277 a0001c0002t0002g0278 a0001c0002t0002g0280 a0001c0002t0002g0281 a0001c0002t0002g0283 a0001c0002t0002g0284 a0001c0002t0002g0286 a0001c0002t0002g0287 a0001c0002t0002g0288 a0001c0002t0002g0290 a0001c0002t0002g0291 a0001c0002t0002g0296 a0001c0002t0002g0299 a0001c0002t0002g0300 a0001c0002t0002g0302 a0001c0002t0004g0251 a0001c0002t0004g0257 a0001c0002t0004g0292 a0001c0002t0004g0294 a0001c0002t0004g0297 a0001c0002t0007g0295 a0001c0002t0015g0039 a0001c0002t0015g0243 a0001c0002t0020g0285 a0001c0002t0027g0236 a0001c0002t0034g0267 a0001c0002t0036g0258 a0001c0002t0044g0165	111	400	0.2775	318	c.137 others(335): Show c.1372+944_1372+945insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TGAGACGGAGTGTCGCTCTGTCCCCAGGCTGGAGTGCAGTGGCGCGATCT TGGCTCACTGCACGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCA TTCCCGAGTAGCTGGGACTGCAGGCGCCCGCCACCACGCCCAGCTATTTT TTTTGTATTTTTAGTAGAGACGAGGTTTCACCGTGTTAGCCAGAATGGTC TCGATCTCCTGACCTCGTGATCCACCCGTCTCGGCCTCCCAAAGTGCTAG GATTACAGGCGTGAGCCACCGCGCCCGGTCTAATTTTTCT	SF3A3	ENSG00000183431.12	transcript	ENST00000373019.5	protein_coding	15/16			chr1	TogoVar
SF3A3_chr1_37951975_37995022	37967099	T T	TAGAAAAA others(311): Show TAGAAAAATTAGACCGGGCGCGGTGGCTCACGCCTGTAATCCTAGCACTT TGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCGAGACCATTCT GGCTAACACGGTGAAACCTCGTCTCTACTAAAAATACAAAAAAAATAGCT GGGCGTGGTGGCGGGCGCCTGCAGTCCCAGCTACTCGGGAATGAGGCAGG AGAATGGCGTGAACCCGGGAGGTGGAGCGTGCAGTGAGCCAAGATCGCGC CACTGCACTCCAGCCTGGGGACAGAGCGACACTCCGTCTCAAAAAAAAAA AAAAAAAAAAAAAAAGAAA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0012 a0001c0003t0002g0012	1	400	0.0025	318	c.137 others(335): Show c.1372+944_1372+945insTTTCTTTTTTTTTTTTTTTTTTTTTTTT TGAGACGGAGTGTCGCTCTGTCCCCAGGCTGGAGTGCAGTGGCGCGATCT TGGCTCACTGCACGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCA TTCCCGAGTAGCTGGGACTGCAGGCGCCCGCCACCACGCCCAGCTATTTT TTTTGTATTTTTAGTAGAGACGAGGTTTCACCGTGTTAGCCAGAATGGTC TCGATCTCCTGACCTCGTGATCCACCCGTCTCGGCCTCCCAAAGTGCTAG GATTACAGGCGTGAGCCACCGCGCCCGGTCTAATTTTTCT	SF3A3	ENSG00000183431.12	transcript	ENST00000373019.5	protein_coding	15/16			chr1	TogoVar
SF3A3_chr1_37951975_37995022	37967099	T T	TAGAAAAA others(311): Show TAGAAAAATTAGACCGGGCGCGGTGGCTCACGCCTGTAATCCTAGCACTT TGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCGAGACCATTCT GGCTAACACGGTGAAACCTCGTCTCTACTAAAAATACAAAAAAAATAGCT GGGCGTGGTGGCGGGCGCCTGCAGTCCCAGCTACTCGGGAATGAGGCAGG AGAATGGCGTGAACCCGGGAGGTGGAGCGTGCAGTGAGCCAAGATCGCGC CACTGCACTCCAGCCTGGGGACAGAGTGACACTCCGTCTCAAAAAAAAAA AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	400	0.0025	318	c.137 others(335): Show c.1372+944_1372+945insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TGAGACGGAGTGTCACTCTGTCCCCAGGCTGGAGTGCAGTGGCGCGATCT TGGCTCACTGCACGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCA TTCCCGAGTAGCTGGGACTGCAGGCGCCCGCCACCACGCCCAGCTATTTT TTTTGTATTTTTAGTAGAGACGAGGTTTCACCGTGTTAGCCAGAATGGTC TCGATCTCCTGACCTCGTGATCCACCCGTCTCGGCCTCCCAAAGTGCTAG GATTACAGGCGTGAGCCACCGCGCCCGGTCTAATTTTTCT	SF3A3	ENSG00000183431.12	transcript	ENST00000373019.5	protein_coding	15/16			chr1	TogoVar
SF3A3_chr1_37951975_37995022	37967099	T T	TAGAAAAA others(311): Show TAGAAAAATTAGACCGGGCGCGGTGGCTCACGCCTGTAATCCTAGCACTT TGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCGAGACCATTCT GGCTAACACGGTGAAACCTCGTCTCTACTAAAAATACAAAAAAAATAGCT GGGCGTGGTGGCGGGCGCCTGCAGTCCCAGCTACTCGGGAATGAGGCAGG AGAATGGCGTGAACCCGGGAGGTGGAGCGTGCAGTGAGCCAAGATCGTGC CACTGCACTCCAGCCTGGGGACAGAGCGACACTCCGTCTCAAAAAAAAAA AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0020 a0001c0001t0025g0020	1	400	0.0025	318	c.137 others(335): Show c.1372+944_1372+945insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TGAGACGGAGTGTCGCTCTGTCCCCAGGCTGGAGTGCAGTGGCACGATCT TGGCTCACTGCACGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCA TTCCCGAGTAGCTGGGACTGCAGGCGCCCGCCACCACGCCCAGCTATTTT TTTTGTATTTTTAGTAGAGACGAGGTTTCACCGTGTTAGCCAGAATGGTC TCGATCTCCTGACCTCGTGATCCACCCGTCTCGGCCTCCCAAAGTGCTAG GATTACAGGCGTGAGCCACCGCGCCCGGTCTAATTTTTCT	SF3A3	ENSG00000183431.12	transcript	ENST00000373019.5	protein_coding	15/16			chr1	TogoVar
SGCZ_chr8_14079845_15243431	14117909	T T	TGAACTCA others(311): Show TGAACTCATCCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTT GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTTTTAGCCAGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCCC	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0071 a0001c0001t0071	a0001c0001t0071g0067 a0001c0001t0071g0067	1	102	0.0098	318	c.548 others(335): Show c.548-9675_548-9674insGGGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCCTGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACA AAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGGATGAGTTC	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	5/7			chr8	TogoVar
SH3BP5_chr3_15249353_15337586	15252819	C C	CAAAAGAC others(311): Show CAAAAGACAGGTTACTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCATAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAATGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02258.hp1 HG02809.hp1 others(6): Show HG01891.hp2 HG02258.hp1 HG02809.hp1 HG03098.hp1 HG03209.hp2 HG03453.hp1 HG03540.hp1 NA18906.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0001t0008 a0001c0002t0006 others(1): Show a0001c0001t0006 a0001c0001t0008 a0001c0002t0006 a0001c0002t0008	a0001c0001t0006g0342 a0001c0001t0006g0346 a0001c0001t0006g0347 others(6): Show a0001c0001t0006g0342 a0001c0001t0006g0346 a0001c0001t0006g0347 a0001c0001t0006g0348 a0001c0001t0008g0130 a0001c0002t0006g0343 a0001c0002t0006g0344 a0001c0002t0008g0109 a0001c0002t0008g0129	9	376	0.0239	318	c.32 others(329): Show c.3266_*3267insTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCATTGCAA GCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTATGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCCAGTAACCTGTCTTTT	SH3BP5	ENSG00000131370.16	transcript	ENST00000383791.8	protein_coding		1533		chr3	TogoVar
SH3BP5_chr3_15249353_15337586	15252819	C C	CAAAAGAC others(311): Show CAAAAGACAGGTTACTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAATGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02809.hp2 HG03195.hp1 HG02559.hp2 HG02809.hp2 HG03195.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0020 a0001c0002t0011 a0001c0002t0020	a0001c0002t0011g0329 a0001c0002t0011g0349 a0001c0002t0020g0153 a0001c0002t0011g0329 a0001c0002t0011g0349 a0001c0002t0020g0153	3	376	0.0080	318	c.32 others(329): Show c.3266_*3267insTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCATTGCAA GCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCCAGTAACCTGTCTTTT	SH3BP5	ENSG00000131370.16	transcript	ENST00000383791.8	protein_coding		1533		chr3	TogoVar
SH3BP5_chr3_15249353_15337586	15252819	C C	CAAAAGAC others(311): Show CAAAAGACAGGTTACTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAAACGGTGAAACCCCGTCTCTACTAAAAATAGAAAAAAT TAGCCGGGCATAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAATGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG02818.hp2 HG02895.hp2 others(4): Show HG02723.hp2 HG02818.hp2 HG02895.hp2 HG02965.hp1 HG03041.hp1 HG03486.hp2 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0027 a0001c0002t0005 a0001c0002t0027	a0001c0002t0005g0334 a0001c0002t0005g0353 a0001c0002t0005g0360 others(4): Show a0001c0002t0005g0334 a0001c0002t0005g0353 a0001c0002t0005g0360 a0001c0002t0005g0365 a0001c0002t0005g0368 a0001c0002t0005g0369 a0001c0002t0027g0372	7	376	0.0186	318	c.32 others(329): Show c.3266_*3267insTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCATTGCAA GCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTATGCCCGGCTAATTTTTTCTATTTTT AGTAGAGACGGGGTTTCACCGTTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCCAGTAACCTGTCTTTT	SH3BP5	ENSG00000131370.16	transcript	ENST00000383791.8	protein_coding		1533		chr3	TogoVar
SH3BP5_chr3_15249353_15337586	15252826	C C	CAGGTTAC others(311): Show CAGGTTACTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTG GGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGG CTAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGG GCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGG AGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAATGAGCCGAGATCCCGC CACTGCACTCCAGCCTGGGCGACAGAGAGAGACTCCGTCTCAAAAAAAAA AAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG02145.hp1 HG02145.hp2 others(3): Show HG01891.hp1 HG02145.hp1 HG02145.hp2 HG02622.hp2 HG02647.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0015 a0001c0001t0004 a0001c0001t0007 a0001c0001t0015	a0001c0001t0004g0194 a0001c0001t0004g0335 a0001c0001t0007g0041 others(3): Show a0001c0001t0004g0194 a0001c0001t0004g0335 a0001c0001t0007g0041 a0001c0001t0007g0066 a0001c0001t0007g0071 a0001c0001t0015g0114	6	376	0.0160	318	c.32 others(329): Show c.3259_*3260insTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCTCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTC ATTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCGTTTTTAGCCGGGATGGTCTCGA TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGCCAGTAACCT	SH3BP5	ENSG00000131370.16	transcript	ENST00000383791.8	protein_coding		1526		chr3	TogoVar
SHROOM1_chr5_132817141_132835647	132835058	T T	TAAGACAG others(311): Show TAAGACAGGCACGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATC CTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTA GCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGAT TGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01099.hp2 others(4): Show HG01070.hp2 HG01071.hp1 HG01099.hp2 HG01106.hp2 HG01934.hp1 HG01981.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0019	a0001c0001t0001g0001 a0001c0001t0002g0003 a0001c0001t0004g0018 others(1): Show a0001c0001t0001g0001 a0001c0001t0002g0003 a0001c0001t0004g0018 a0001c0001t0019g0041	7	396	0.0177	318	c.-49 others(329): Show c.-4966_-4965insTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGC AAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTC CTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCCGTGCCTGTCTT	SHROOM1	ENSG00000164403.15	transcript	ENST00000378679.8	protein_coding		4412		chr5	TogoVar
SHROOM1_chr5_132817141_132835647	132835058	T T	TAAGACAG others(311): Show TAAGACAGGCACGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATC CTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAG CCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATT GCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0012 a0012	a0012c0015 a0012c0015	a0012c0015t0003 a0012c0015t0003	a0012c0015t0003g0118 a0012c0015t0003g0118	1	396	0.0025	318	c.-49 others(329): Show c.-4966_-4965insTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTG CAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTC CTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCCGTGCCTGTCTT	SHROOM1	ENSG00000164403.15	transcript	ENST00000378679.8	protein_coding		4412		chr5	TogoVar
SIK2_chr11_111597449_111735855	111609102	T T	TTGCATTC others(311): Show TTGCATTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02970.hp2 HG01891.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0032 a0001c0001t0010 a0001c0001t0032	a0001c0001t0010g0081 a0001c0001t0032g0080 a0001c0001t0010g0081 a0001c0001t0032g0080	2	198	0.0101	318	c.135 others(335): Show c.135+6416_135+6417insTTTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGG CTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTC GATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGCCACCGCGCCCGGCCTGCATTCCTTTT	SIK2	ENSG00000170145.5	transcript	ENST00000304987.4	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr11	TogoVar
SIPA1L2_chr1_232392965_232635133	232452014	T T	TAAAAATG others(311): Show TAAAAATGTGGCATTGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTGGTAGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03017.hp1 NA18942.hp2 NA19077.hp2 HG03017.hp1 NA18942.hp2 NA19077.hp2	a0002 a0002	a0002c0007 a0002c0024 a0002c0007 a0002c0024	a0002c0007t0001 a0002c0024t0001 a0002c0024t0005 a0002c0007t0001 a0002c0024t0001 a0002c0024t0005	a0002c0007t0001g0200 a0002c0024t0001g0100 a0002c0024t0005g0051 a0002c0007t0001g0200 a0002c0024t0001g0100 a0002c0024t0005g0051	3	292	0.0103	318	c.309 others(337): Show c.3096-6229_3096-6228insTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCG GCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCGAGTAGCTGGGACTACAGGCGCCTGCTACCACGCCCGGCTAATTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCT CGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCACCGCGCCCGGCAATGCCACATTTTT	SIPA1L2	ENSG00000116991.12	transcript	ENST00000674635.1	protein_coding	10/22			chr1	TogoVar
SIPA1L2_chr1_232392965_232635133	232452014	T T	TAAAAATG others(311): Show TAAAAATGTGGCATTGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01123.hp2 NA19081.hp1 HG01123.hp2 NA19081.hp1	a0003 a0009 a0003 a0009	a0003c0004 a0009c0025 a0003c0004 a0009c0025	a0003c0004t0001 a0009c0025t0003 a0003c0004t0001 a0009c0025t0003	a0003c0004t0001g0120 a0009c0025t0003g0247 a0003c0004t0001g0120 a0009c0025t0003g0247	2	292	0.0069	318	c.309 others(337): Show c.3096-6229_3096-6228insTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCG GCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCT CGATCTCCTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCACCGCGCCCGGCAATGCCACATTTTT	SIPA1L2	ENSG00000116991.12	transcript	ENST00000674635.1	protein_coding	10/22			chr1	TogoVar
SIRPB1_chr20_1556385_1625009	1565567	T T	TAAGAAAT others(311): Show TAAGAAATGTTTCCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA20905.hp2 NA19091.hp1 NA20905.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0003 a0002c0002t0001 a0002c0002t0003	a0002c0002t0001g0133 a0002c0002t0003g0116 a0002c0002t0001g0133 a0002c0002t0003g0116	2	364	0.0055	318	c.3- others(329): Show c.3-71_*3-70insTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCAGGAAACATTTCTT	SIRPB1	ENSG00000101307.16	transcript	ENST00000381605.9	protein_coding	5/5			chr20	TogoVar
SKAP2_chr7_26662068_26869590	26715357	G G	GGATCTTT others(311): Show GGATCTTTTTCTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01255.hp1 HG01361.hp2 others(7): Show HG01243.hp2 HG01255.hp1 HG01361.hp2 HG02109.hp2 HG02257.hp2 HG02280.hp2 HG02818.hp1 HG03139.hp1 HG03540.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 others(1): Show a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0016	a0001c0001t0006g0223 a0001c0001t0006g0225 a0001c0001t0006g0226 others(7): Show a0001c0001t0006g0223 a0001c0001t0006g0225 a0001c0001t0006g0226 a0001c0001t0006g0227 a0001c0001t0008g0197 a0001c0001t0008g0229 a0001c0001t0008g0230 a0001c0001t0010g0186 a0001c0001t0010g0232 a0001c0001t0016g0228	10	296	0.0338	318	c.796 others(337): Show c.796+10070_796+10071insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAGAAAAAGATC	SKAP2	ENSG00000005020.13	transcript	ENST00000345317.7	protein_coding	9/12			chr7	TogoVar
SLC10A7_chr4_146248981_146526940	146430027	C C	CAAAAATT others(311): Show CAAAAATTAAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCC GGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0006 a0004c0005t0006	a0004c0005t0006g0243 a0004c0005t0006g0243	1	244	0.0041	318	c.435 others(337): Show c.435+12755_435+12756insTTTTTTTTTTTTTTTTTTTTTTTTTT TGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATC TCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTC AGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAA TTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGG TCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCT GGGATTACAGGCGTGAGCCACCGCGCCCGGCCCTTAATTTTT	SLC10A7	ENSG00000120519.16	transcript	ENST00000335472.12	protein_coding	5/11			chr4	TogoVar
SLC24A3_chr20_19207642_19727926	19466698	T T	TAAAAGGT others(311): Show TAAAAGGTCCACAGAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 NA19240.hp2 HG02622.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0008 a0002c0005 a0001c0008 a0002c0005	a0001c0008t0002 a0002c0005t0006 a0001c0008t0002 a0002c0005t0006	a0001c0008t0002g0090 a0002c0005t0006g0066 a0001c0008t0002g0090 a0002c0005t0006g0066	2	160	0.0125	318	c.272 others(337): Show c.272-48775_272-48774insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGGTCCACAGAG	SLC24A3	ENSG00000185052.13	transcript	ENST00000328041.11	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLC24A3_chr20_19207642_19727926	19663437	C C	CTCCTCCA others(311): Show CTCCTCCACTTCCTCCTCCACCTCCTCCTCTACCTCCTCCAACTCCTCCT CCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCC TCCACCTCCTCCTCCTCCTCTACCTCCTGCACCTCCTCCTCCTCCTCCAC CTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCA CCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCACC TCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCACCTCCAC CTCCACCTCCTCCTCCACT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0016 a0001c0003t0016	a0001c0003t0016g0007 a0001c0003t0016g0007	1	160	0.0063	318	c.688 others(335): Show c.688-2426_688-2425insCCTCCACTTCCTCCTCCACCTCCTCCTC TACCTCCTCCAACTCCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCT CCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCTACCTCCTGC ACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTC CTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCT CCTCCACCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCC ACCTCCTCCTCCACCTCCACCTCCACCTCCTCCTCCACTT	SLC24A3	ENSG00000185052.13	transcript	ENST00000328041.11	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLC24A3_chr20_19207642_19727926	19663437	C C	CTCCTCCA others(311): Show CTCCTCCACTTCCTCCTCCACCTCCTCCTCTACCTCCTCCACCTCCTCCT CCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCC TCCACCTCCTCCTCCTCCTCTACCTCCTGCACCTCCTCCTCCTCCTCCAC CTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCA CCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCACC TCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCACCTCCAC CTCCACCTCCTCCTCCACT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01081.hp2 HG01099.hp1 others(5): Show HG01069.hp1 HG01081.hp2 HG01099.hp1 HG01167.hp1 HG01175.hp2 HG02451.hp2 HG02630.hp2 HG02698.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0009 a0002c0005 a0001c0001 a0001c0009 a0002c0005	a0001c0001t0002 a0001c0001t0005 a0001c0009t0001 others(1): Show a0001c0001t0002 a0001c0001t0005 a0001c0009t0001 a0002c0005t0005	a0001c0001t0002g0075 a0001c0001t0005g0031 a0001c0001t0005g0032 others(5): Show a0001c0001t0002g0075 a0001c0001t0005g0031 a0001c0001t0005g0032 a0001c0001t0005g0033 a0001c0001t0005g0034 a0001c0001t0005g0155 a0001c0009t0001g0083 a0002c0005t0005g0039	8	160	0.0500	318	c.688 others(335): Show c.688-2426_688-2425insCCTCCACTTCCTCCTCCACCTCCTCCTC TACCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCT CCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCTACCTCCTGC ACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTC CTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCT CCTCCACCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCC ACCTCCTCCTCCACCTCCACCTCCACCTCCTCCTCCACTT	SLC24A3	ENSG00000185052.13	transcript	ENST00000328041.11	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLC30A9_chr4_41985530_42095461	42086023	T T	TAAAAAGA others(311): Show TAAAAAGAAACAAGATTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02738.hp2 HG03490.hp1 others(7): Show HG01243.hp2 HG02738.hp2 HG03490.hp1 HG03831.hp1 HG06807.hp2 NA18906.hp1 NA18950.hp1 NA18998.hp1 NA19066.hp2 NA19090.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0002 a0002c0009 a0001c0004 a0002c0002 a0002c0009	a0001c0004t0024 a0001c0004t0025 a0002c0002t0002 others(1): Show a0001c0004t0024 a0001c0004t0025 a0002c0002t0002 a0002c0009t0002	a0001c0004t0024g0149 a0001c0004t0025g0150 a0002c0002t0002g0073 others(7): Show a0001c0004t0024g0149 a0001c0004t0025g0150 a0002c0002t0002g0073 a0002c0002t0002g0076 a0002c0002t0002g0085 a0002c0002t0002g0095 a0002c0002t0002g0098 a0002c0002t0002g0104 a0002c0002t0002g0108 a0002c0009t0002g0065	10	164	0.0610	318	c.166 others(333): Show c.1663-43_1663-42insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAAAGAAACAAGATT	SLC30A9	ENSG00000014824.14	transcript	ENST00000264451.12	protein_coding	17/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLC30A9_chr4_41985530_42095461	42086023	T T	TAAAAAGA others(311): Show TAAAAAGAAACAAGATTGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0087 a0002c0002t0002g0087	1	164	0.0061	318	c.166 others(333): Show c.1663-43_1663-42insGGCCGGGCGCGGTGGCTCATGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAAAGAAACAAGATT	SLC30A9	ENSG00000014824.14	transcript	ENST00000264451.12	protein_coding	17/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLC30A9_chr4_41985530_42095461	42086023	T T	TAAAAAGA others(311): Show TAAAAAGAAACAAGATTGGCCGGGCGGGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0099 a0002c0002t0008g0099	1	164	0.0061	318	c.166 others(333): Show c.1663-43_1663-42insGGCCGGGCGGGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAAAGAAACAAGATT	SLC30A9	ENSG00000014824.14	transcript	ENST00000264451.12	protein_coding	17/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLC35F1_chr6_117902264_118322671	118304985	C C	CAGTCAAA others(311): Show CAGTCAAAGATCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTG CAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCC ATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCAC TACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTG TTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGC CTCCCAAAGTGCTGGGATT	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0124 a0001c0001t0038g0124	1	182	0.0055	318	c.100 others(337): Show c.1003-9029_1003-9028insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAG GCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGG GTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGC GCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGT TTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCC CGCCTCGGCCTCCCAAAGTGCTGGGATTAGTCAAAGATCTTT	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC35F3_chr1_233899676_234329511	234076223	T T	TACATTTT others(311): Show TACATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGCGTAGCTG GGACTACAGACGCCCGCCACCACGCCCGGCTAATTTTTTTGTGTTTTTTT TAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0133 a0001c0002t0002g0133	1	158	0.0063	318	c.284 others(339): Show c.284-155187_284-155186insTTTTTTTTTTTTTTTTTTTTTTTT TTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGAT CTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCT CAGCCTCCCGCGTAGCTGGGACTACAGACGCCCGCCACCACGCCCGGCTA ATTTTTTTGTGTTTTTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAG GATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAA GTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCACATTTT	SLC35F3	ENSG00000183780.13	transcript	ENST00000366618.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC38A9_chr5_55620848_55717324	55659244	T T	TAAAAAAA others(311): Show TAAAAAAAAAAAACCATCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCCCGCCACTGCACTCCAGCCTGGGCGACGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0179 a0001c0007t0002g0179	1	350	0.0029	318	c.698 others(335): Show c.698-2471_698-2470insTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCGATGGTTTTTTTTTTTT	SLC38A9	ENSG00000177058.12	transcript	ENST00000396865.7	protein_coding	8/15			chr5	TogoVar
SLC44A3_chr1_94815357_94900246	94877129	T T	TAAAAAAA others(311): Show TAAAAAAAAGGTCGGGGTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGG CGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAACGGTGAA ACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGC GCCTATAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAAC CCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGC CTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0249 a0001c0001t0001g0249	1	360	0.0028	318	c.148 others(337): Show c.1482+9728_1482+9729insTGTAATCCCAGCACTTTGGGAGGCCG AGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAA CGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGT GGCGGGCGCCTATAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGG CGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCA CTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGTCGGGG	SLC44A3	ENSG00000143036.17	transcript	ENST00000271227.11	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC45A1_chr1_8313114_8349165	8344892	A A	ACATATCC others(311): Show ACATATCCACCCATCCACCCATCCAAATATCCACTTCTCCATATATACAT CCATCCATCTATCCATCCATCCATCCACATATCCACCCATCCACCCATCC AAATATCCACTTCTCCTTAGATACATCCATCCATCTATCCATCCATCCAC CCATCTAAATATCCACTTCTCCATATATCCATCCATCCGTCCACCCATCC ATCCATCCATCCATCTATCCATCCATCCACCCATCTAAATATCCACTTCT TCATATATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCC ACATATCCAGCCATCCACC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0036 a0001c0008t0001g0036	1	388	0.0026	318	c.87 others(327): Show c.879_*880insCATATCCACCCATCCACCCATCCAAATATCCACTTC TCCATATATACATCCATCCATCTATCCATCCATCCATCCACATATCCACC CATCCACCCATCCAAATATCCACTTCTCCTTAGATACATCCATCCATCTA TCCATCCATCCACCCATCTAAATATCCACTTCTCCATATATCCATCCATC CGTCCACCCATCCATCCATCCATCCATCTATCCATCCATCCACCCATCTA AATATCCACTTCTTCATATATCCATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCACATATCCAGCCATCCACC	SLC45A1	ENSG00000162426.16	transcript	ENST00000471889.7	protein_coding		728		chr1	TogoVar
SLC45A1_chr1_8313114_8349165	8344892	A A	ACATATCC others(311): Show ACATATCCACCCATCCACCCATCCAAATATCCACTTCTCCATATATACAT CCATCCATCTATCCATCCATCCATCCACATATCCACCCATCCACCCATCC AAATATCCACTTCTCCTTAGATACATCCATCCATCTATCCATCCATCCAC CCATCTAAATATCCACTTCTCCATATATCCATCCATCTGTCCACCCATCC ATCCATCCATCCATCTATCCATCCATCCACCCATCTAAATATCCACTTCT TCATATATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCC ACATATCCAGCCATCCACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0256 a0001c0003t0001g0256	1	388	0.0026	318	c.87 others(327): Show c.879_*880insCATATCCACCCATCCACCCATCCAAATATCCACTTC TCCATATATACATCCATCCATCTATCCATCCATCCATCCACATATCCACC CATCCACCCATCCAAATATCCACTTCTCCTTAGATACATCCATCCATCTA TCCATCCATCCACCCATCTAAATATCCACTTCTCCATATATCCATCCATC TGTCCACCCATCCATCCATCCATCCATCTATCCATCCATCCACCCATCTA AATATCCACTTCTTCATATATCCATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCACATATCCAGCCATCCACC	SLC45A1	ENSG00000162426.16	transcript	ENST00000471889.7	protein_coding		728		chr1	TogoVar
SLC46A3_chr13_28695080_28723970	28711128	T T	TAAGACTG others(311): Show TAAGACTGATCTGCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAAGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0123 a0001c0001t0003g0123	1	426	0.0024	318	c.106 others(335): Show c.1061-286_1061-285insTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCG ATCTCTTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGCCGCAGATCAGTCTT	SLC46A3	ENSG00000139508.15	transcript	ENST00000266943.11	protein_coding	3/5			chr13	TogoVar
SLC49A4_chr3_122790069_122886139	122842126	T T	TAATTTTG others(311): Show TAATTTTGGACTATTCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCAGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02895.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0315 a0001c0001t0011g0316 a0001c0001t0011g0315 a0001c0001t0011g0316	2	342	0.0059	318	c.834 others(335): Show c.834-3619_834-3618insTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACT GCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCAGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCAATTTTGGACTATTCTTT	SLC49A4	ENSG00000138463.9	transcript	ENST00000261038.6	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr3	TogoVar
SLC4A10_chr2_161619416_161990270	161908735	A A	ACAGAATG others(311): Show ACAGAATGCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTT TTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGAT GGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTG CTGGGATTACAGGCGTGAG	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	118	0.0085	318	c.199 others(337): Show c.1997+2861_1997+2862insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCG CAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCT GCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCG GCTAATTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTT TAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCC TCCCAAAGTGCTGGGATTACAGGCGTGAGCAGAATGCCTTTT	SLC4A10	ENSG00000144290.17	transcript	ENST00000446997.6	protein_coding	15/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
SLC6A3_chr5_1387794_1450440	1422685	G G	GTGCTAGG others(311): Show GTGCTAGGTGCCCACCACTGCCCACAGTGCTGCCCATGGTGCTGGGTACC CACCGCTGCCCACAGGTGCTGCCCACAGTGCTGGGTACCCACTGCTGCCC ACAGTGCTGGGTACCCACTGCTGCCCACAGGTGCTGCCCACAGTGCTGGG TACCCACTGCTGCCCACAGTGCTGGGTACCCACCGCTGCCCAGTGCTGCC CAAGGTGCTGGGTGCCCACCGCTGCCCACAGTGCTGCCCACGCTGCTGGG TGCCCACCGCTGCCCACAGTACTGCCCACGCTGCTGGGTGCCCACCACTG CCCACAGTACTGCCCACGC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02809.hp1 HG02615.hp2 HG02809.hp1	a0001 a0001	a0001c0005 a0001c0011 a0001c0005 a0001c0011	a0001c0005t0009 a0001c0011t0020 a0001c0005t0009 a0001c0011t0020	a0001c0005t0009g0026 a0001c0011t0020g0025 a0001c0005t0009g0026 a0001c0011t0020g0025	2	373	0.0054	318	c.654 others(333): Show c.654-672_654-671insGCGTGGGCAGTACTGTGGGCAGTGGTGGGC ACCCAGCAGCGTGGGCAGTACTGTGGGCAGCGGTGGGCACCCAGCAGCGT GGGCAGCACTGTGGGCAGCGGTGGGCACCCAGCACCTTGGGCAGCACTGG GCAGCGGTGGGTACCCAGCACTGTGGGCAGCAGTGGGTACCCAGCACTGT GGGCAGCACCTGTGGGCAGCAGTGGGTACCCAGCACTGTGGGCAGCAGTG GGTACCCAGCACTGTGGGCAGCACCTGTGGGCAGCGGTGGGTACCCAGCA CCATGGGCAGCACTGTGGGCAGTGGTGGGCACCTAGCA	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	4/14			chr5	TogoVar

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