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
ODF3L2_chr19_458361_479983	479572	T T	TTTTGTAT others(789): Show TTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGCCAGGCTGGTC TCGATCTCCTGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACCGTGCCCGGCTAATTTTGTATTTTTAGTAGA GACGGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGATCTCCTGACCTCG TGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGCGTGAGCC ACCGTGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGGTTTCTCCAT GTTGGCCAGGCTGGTCTCGATCTCCTGACCTCGTGATCCGCCTGCCTCGG CCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCTAATT TTGTATTTTTAGTAGAGACGGGGGTTTCTCCATGTTGGCCAGGCTGGTCT CGATCTCCTGACCTTGTGATCCGCCTTCCTCGGCCTCCCAAAGTGCTGGG ATGACAGGCGTGAGCCACCGTGCCCGGCTAATTTTGTATTTTTAGTAGAG ACGGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGATCTCCTGACCTCGT GATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGCGTGAGCCA CCGTGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGGTTTCTCCATG TTGGCCAGGCTGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTCGGC CTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCTAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG01109.hp1 HG02132.hp1 others(22): Show HG00621.hp1 HG01109.hp1 HG02132.hp1 HG03669.hp2 HG03688.hp1 HG03831.hp1 HG03834.hp1 HG03927.hp1 HG04115.hp1 HG04184.hp1 HG04228.hp1 NA18612.hp1 NA18612.hp2 NA18940.hp2 NA18944.hp1 NA18955.hp2 NA18971.hp1 NA18979.hp1 NA19000.hp2 NA19002.hp2 NA19003.hp2 NA19007.hp2 NA19074.hp1 NA19081.hp2 NA19085.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0007	a0001c0002 a0002c0001 a0004c0006 others(1): Show a0001c0002 a0002c0001 a0004c0006 a0007c0011	a0001c0002t0002 a0002c0001t0001 a0004c0006t0002 others(1): Show a0001c0002t0002 a0002c0001t0001 a0004c0006t0002 a0007c0011t0001	a0001c0002t0002g0007 a0001c0002t0002g0008 a0001c0002t0002g0022 others(12): Show a0001c0002t0002g0007 a0001c0002t0002g0008 a0001c0002t0002g0022 a0001c0002t0002g0102 a0001c0002t0002g0105 a0001c0002t0002g0107 a0001c0002t0002g0144 a0001c0002t0002g0146 a0002c0001t0001g0001 a0002c0001t0001g0004 a0002c0001t0001g0108 a0002c0001t0001g0109 a0004c0006t0002g0037 a0004c0006t0002g0103 a0007c0011t0001g0020	25	322	0.0776	796	c.-48 others(807): Show c.-4826_-4825insTTAGCCGGGCACGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGA CCAGCCTGGCCAACATGGAGAAACCCCCGTCTCTACTAAAAATACAAAAT TAGCCGGGCACGGTGGCTCACGCCTGTCATCCCAGCACTTTGGGAGGCCG AGGCAGGCGGATCACGAGGTCAGGAGATCGAGACCAGCCTGGCCAACATG GAGAAACCCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCACGGTGGC TCACGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGAAGGCGGATCACAA GGTCAGGAGATCGAGACCAGCCTGGCCAACATGGAGAAACCCCCGTCTCT ACTAAAAATACAAAATTAGCCGGGCACGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGATCGAGAC CAGCCTGGCCAACATGGAGAAACCCCCGTCTCTACTAAAAATACAAAATT AGCCGGGCACGGTGGCTCACGCCTGTCATCCCAGCACTTTGGGAGGCCGA GGCAGGCGGATCACGAGGTCAGGAGATCGAGACCAGCCTGGCCAACATGG AGAAACCCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCACGGTGGCT CACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAG GTCAGGAGATCGAGACCAGCCTGGCCAACATGGAGAAACCCCGTCTCTAC TAAAAATACAAA	ODF3L2	ENSG00000181781.10	transcript	ENST00000315489.5	protein_coding		4590		chr19	TogoVar
PAK2_chr3_196734857_196837647	196811271	T T	TTCCTTCC others(789): Show TTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTAC CCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTAC CCTCCCTTCCCTCCCTTCCTTCCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCC CTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCT CCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCTTCCTTCCTTCT TCCCTCCCTTCCTTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCC TTCCTTCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTC CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTTCCTTCCTTCCCTC CCTCCCTTCCCTCCCTTCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCC TCCCTTCCTTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCC TTCCTTCCCTTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCCTCC CTTCCCTCCCTTCCTTCCTCCCTTCCTTCCCTTCCTTCCTTCCCTTCCCT CCCTTCCCTCCCTTCCTTCCTCCCTTCCTTCCCTTCCTTCCCTTCCC	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0064 a0001c0001t0064	a0001c0001t0064g0112 a0001c0001t0064g0112	1	149	0.0067	796	c.773 others(811): Show c.773+621_773+622insTTCCTTCCTTCCTTCCTTCCTTCCCTCCCT TCCTTCCCTTCCCTACCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTT CCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTTCCTTCCCTCCCT TCCTTCCCTTCCCTACCCTCCCTTCCCTCCCTTCCTTCCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCT TCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTC CTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCC TTCCTTCCTTCCTTCTTCCCTCCCTTCCTTCCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCCTCCCTTCCTTCCTTCCCTCCCTCCCTTCCCTCCCTTCC TTCCCTCCCTTCCTTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCC CTTCCTTCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTCCCTT CCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCTTCCTTCC TTCCTTCCTTCCCTCCCTTCCCTCCCTTCCTTCCTCCCTTCCTTCCCTTC CTTCCTTCCCTTCCCTCCCTTCCCTCCCTTCCTTCCTCCCTTCCTTCCCT TCCTTCCCTTCCCTCC	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PFKFB3_chr10_6197932_6240532	6206842	G G	GCAGCCAG others(789): Show GCAGCCAGGCAGAGGGGCTCCTCACATCCCAGACAATGGGCGGCCAGGCA GAGACACTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCA CATCCCAGACAATGGGCGGCCAGGCAGAGACACTCCTCACTTTCCAGACT GGGCAGCCAGGCAGAGGGGCTCCTCACATCCCAGACAATGGGCGGCCAGG CAGAGACACTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCT CACATCCCAGACAATGGGCGGCCAGGCAGAGACACTCCTCACTTTCCAGA CTGGGCAGCCAGGCAGAGGGGCTCCTCACATCCCAGACAATGGGCGGCCA GGCAGAGACACTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTC CTCACATCCCAGACAATGGGCGGCCAGGCAGAGACACTCCTCACTTTCCA GACTGGGCAGCCAGGCAGAGGGGCTCCTCACATCCCAGACAATGGGCGGC CAGGCAGAGACACTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGC TCCTCACATCCCAGACAATGGGCGGCCAGGCAGAGACACTCCTCACTTTC CAGACTGGGCAGCCAGGCAGAGGGGCTCCTCACATCCCAGACAATGGGCG GCCAGGCAGAGACACTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGG GCTCCTCACATCCCAGACAATGGGCGGCCAGGCAGAGACACTCCTCACTT TCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCACATCCCAGACAAT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0248 a0001c0001t0002g0248	1	348	0.0029	796	c.76+ others(811): Show c.76+3506_76+3507insCAGCCAGGCAGAGGGGCTCCTCACATCCCA GACAATGGGCGGCCAGGCAGAGACACTCCTCACTTTCCAGACTGGGCAGC CAGGCAGAGGGGCTCCTCACATCCCAGACAATGGGCGGCCAGGCAGAGAC ACTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCACATCC CAGACAATGGGCGGCCAGGCAGAGACACTCCTCACTTTCCAGACTGGGCA GCCAGGCAGAGGGGCTCCTCACATCCCAGACAATGGGCGGCCAGGCAGAG ACACTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCACAT CCCAGACAATGGGCGGCCAGGCAGAGACACTCCTCACTTTCCAGACTGGG CAGCCAGGCAGAGGGGCTCCTCACATCCCAGACAATGGGCGGCCAGGCAG AGACACTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCAC ATCCCAGACAATGGGCGGCCAGGCAGAGACACTCCTCACTTTCCAGACTG GGCAGCCAGGCAGAGGGGCTCCTCACATCCCAGACAATGGGCGGCCAGGC AGAGACACTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTC ACATCCCAGACAATGGGCGGCCAGGCAGAGACACTCCTCACTTTCCAGAC TGGGCAGCCAGGCAGAGGGGCTCCTCACATCCCAGACAATGGGCGGCCAG GCAGAGACACTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCC TCACATCCCAGACAAT	PFKFB3	ENSG00000170525.21	transcript	ENST00000379775.9	protein_coding	1/14			chr10	TogoVar
PLXNB2_chr22_50269979_50312646	50276351	A A	AGGGTGCA others(789): Show AGGGTGCAGCCGCAGGGAGGGGGCGCTGTGGGCACGGCCGTGGGTGCAGC CGCAGGGAGGGGGCGCTGTGGGCACGGCCGTGGGTGCAGCCGCAGGGAGG GGGCGCTGTGGGCACGGCCGAGGGTGCAGCCGCAGGGAGGGGGCGCTGTG GGCACGGCCGAGGGTGCAGCCGCAGGGAGGGGGGCGCTGTGGGCACGGCC GTGGATGGAGCCACAGGGAGGGGGCGCTGTGGGCACGGCCGTGGGTGGAG CCACAGGGACGGGCGCTGTGGGCACGGCCGTGGATGGAGCGACAGGGAGG GGCGCTGTGGGCACGGCCGTGGGTGGAGCGACAGGGAGGGGGCGCTGTGG GCAGGGCTGTGGGTGGAGCCACAGGGACCGGCGCTGTGGGCACCGCCCTG GGTGCAGCCGCAGGGAGGGGGCACTGTGGGCACGGCCGTGGGTGCAGCCA CAGGGAGGGGGGCGCTGTGGGCATGGCCGTGGATGGAGTGACAGGGAGGG GGCACTGTGGGCACAGCCGTGGGTGGAGCCACAGGGACGGGCGCTGTGGG CACAGCCGTGGATGGAGCGACAGGGAGGGGCGCTGTGGGCACGGCCGTGG GTGGAGCGACAGGGAGGGGGCGCTGTGGGCAGGGCTGTGGGTGGAGCCAC AGGGACCGGCGCTGTGGGCATGGCCCTGGGTGCAGCCGCAGGGAGGGGGC GCTGTGGGCACGGCCGTGGGTGCAGCCACAGGGAGGGGGCGCTGTGGGCA TGGCCGTGGATGGAGTGACAGGGAGGGGGCGCTGTGGGCACGGCCGT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0002 a0002	a0002c0072 a0002c0072	a0002c0072t0002 a0002c0072t0002	a0002c0072t0002g0044 a0002c0072t0002g0044	1	184	0.0054	796	c.533 others(813): Show c.5337+277_5337+278insACGGCCGTGCCCACAGCGCCCCCTCCCT GTCACTCCATCCACGGCCATGCCCACAGCGCCCCCTCCCTGTGGCTGCAC CCACGGCCGTGCCCACAGCGCCCCCTCCCTGCGGCTGCACCCAGGGCCAT GCCCACAGCGCCGGTCCCTGTGGCTCCACCCACAGCCCTGCCCACAGCGC CCCCTCCCTGTCGCTCCACCCACGGCCGTGCCCACAGCGCCCCTCCCTGT CGCTCCATCCACGGCTGTGCCCACAGCGCCCGTCCCTGTGGCTCCACCCA CGGCTGTGCCCACAGTGCCCCCTCCCTGTCACTCCATCCACGGCCATGCC CACAGCGCCCCCCTCCCTGTGGCTGCACCCACGGCCGTGCCCACAGTGCC CCCTCCCTGCGGCTGCACCCAGGGCGGTGCCCACAGCGCCGGTCCCTGTG GCTCCACCCACAGCCCTGCCCACAGCGCCCCCTCCCTGTCGCTCCACCCA CGGCCGTGCCCACAGCGCCCCTCCCTGTCGCTCCATCCACGGCCGTGCCC ACAGCGCCCGTCCCTGTGGCTCCACCCACGGCCGTGCCCACAGCGCCCCC TCCCTGTGGCTCCATCCACGGCCGTGCCCACAGCGCCCCCCTCCCTGCGG CTGCACCCTCGGCCGTGCCCACAGCGCCCCCTCCCTGCGGCTGCACCCTC GGCCGTGCCCACAGCGCCCCCTCCCTGCGGCTGCACCCACGGCCGTGCCC ACAGCGCCCCCTCCCTGCGGCTGCACCCACGGCCGTGCCCACAGCGCCCC CTCCCTGCGGCTGCACCC	PLXNB2	ENSG00000196576.16	transcript	ENST00000359337.9	protein_coding	35/36			chr22	TogoVar
PLXNB2_chr22_50269979_50312646	50276351	A A	AGGGTGCA others(789): Show AGGGTGCAGCCGCAGGGAGGGGGCGCTGTGGGCACGGCCGTGGGTGCAGC CGCAGGGAGGGGGCGCTGTGGGCACGGCCGTGGGTGCAGCCGCAGGGAGG GGGCGCTGTGGGCACGGCCGAGGGTGCAGCCGCAGGGAGGGGGCGCTGTG GGCACGGCCGAGGGTGCAGCCGCAGGGAGGGGGGCGCTGTGGGCACGGCC GTGGATGGAGCCACAGGGAGGGGGGCGCTGTGGGCACGGCCGTGGGTGGA GCCACAGGGACGGGCGCTGTGGGCACGGCCGTGGATGGAGCGACAGGGAG GGGCGCTGTGGGCACGGCCGTGGGTGGAGCGACAGGGAGGGGGCGCTGTG GGCAGGGCTGTGGGTGGAGCCACAGGGACCGGCGCTGTGGGCACCGCCCT GGGTGCAGCCGCAGGGAGGGGGCACTGTGGGCACGGCCGTGGGTGCAGCC ACAGGGAGGGGGCGCTGTGGGCATGGCCGTGGATGGAGTGACAGGGAGGG GGCACTGTGGGCACAGCCGTGGGTGGAGCCACAGGGACGGGCGCTGTGGG CACGGCCGTGGATGGAGCGACAGGGAGGGGCGCTGTGGGCACGGCCGTGG GTGGAGCGACAGGGAGGGGGCGCTGTGGGCAGGGCTGTGGGTGGAGCCAC AGGGACCGGCGCTGTGGGCATGGCCCTGGGTGCAGCCGCAGGGAGGGGGC GCTGTGGGCACGGCCGTGGGTGCAGCCACAGGGAGGGGGCGCTGTGGGCA TGGCCGTGGATGGAGTGACAGGGAGGGGGCGCTGTGGGCACGGCCGT	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0153 a0004c0004t0002g0153	1	184	0.0054	796	c.533 others(813): Show c.5337+277_5337+278insACGGCCGTGCCCACAGCGCCCCCTCCCT GTCACTCCATCCACGGCCATGCCCACAGCGCCCCCTCCCTGTGGCTGCAC CCACGGCCGTGCCCACAGCGCCCCCTCCCTGCGGCTGCACCCAGGGCCAT GCCCACAGCGCCGGTCCCTGTGGCTCCACCCACAGCCCTGCCCACAGCGC CCCCTCCCTGTCGCTCCACCCACGGCCGTGCCCACAGCGCCCCTCCCTGT CGCTCCATCCACGGCCGTGCCCACAGCGCCCGTCCCTGTGGCTCCACCCA CGGCTGTGCCCACAGTGCCCCCTCCCTGTCACTCCATCCACGGCCATGCC CACAGCGCCCCCTCCCTGTGGCTGCACCCACGGCCGTGCCCACAGTGCCC CCTCCCTGCGGCTGCACCCAGGGCGGTGCCCACAGCGCCGGTCCCTGTGG CTCCACCCACAGCCCTGCCCACAGCGCCCCCTCCCTGTCGCTCCACCCAC GGCCGTGCCCACAGCGCCCCTCCCTGTCGCTCCATCCACGGCCGTGCCCA CAGCGCCCGTCCCTGTGGCTCCACCCACGGCCGTGCCCACAGCGCCCCCC TCCCTGTGGCTCCATCCACGGCCGTGCCCACAGCGCCCCCCTCCCTGCGG CTGCACCCTCGGCCGTGCCCACAGCGCCCCCTCCCTGCGGCTGCACCCTC GGCCGTGCCCACAGCGCCCCCTCCCTGCGGCTGCACCCACGGCCGTGCCC ACAGCGCCCCCTCCCTGCGGCTGCACCCACGGCCGTGCCCACAGCGCCCC CTCCCTGCGGCTGCACCC	PLXNB2	ENSG00000196576.16	transcript	ENST00000359337.9	protein_coding	35/36			chr22	TogoVar
PLXNB2_chr22_50269979_50312646	50276351	A A	AGGGTGCA others(789): Show AGGGTGCAGCCGCAGGGAGGGGGCGCTGTGGGCACGGCCGTGGGTGCAGC CGCAGGGAGGGGGCGCTGTGGGCACGGCCGTGGGTGCAGCCGCAGGGAGG GGGGCGCTGTGGGCACGGCCGAGGGTGCAGCCGCAGGGAGGGGGCGCTGT GGGCACGGCCGAGGGTGCAGCCGCAGGGAGGGGGCGCTGTGGGCACGGCC GTGGATGGAGCCACAGGGAGGGGGCGCTGTGGGCACGGCCGTGGGTGGAG CCACAGGGACGGGCGCTGTGGGCACGGCCGTGGATGGAGCGACAGGGAGG GGCGCTGTGGGCACGGCCGTGGGTGGAGCGACAGGGAGGGGGCGCTGTGG GCAGGGCTGTGGGTGGAGCCACAGGGACCGGCGCTGTGGGGCACCGCCCT GGGTGCAGCCGCAGGGAGGGGGCACTGTGGGCACGGCCGTGGGTGCAGCC ACAGGGAGGGGGCGCTGTGGGCATGGCCGTGGATGGAGTGACAGGGAGGG GGCACTGTGGGCACAGCCGTGGGTGGAGCCACAGGGACGGGCGCTGTGGG CACAGCCGTGGATGGAGCGACAGGGAGGGGCGCTGTGGGCACGGCCGTGG GTGGAGCGACAGGGAGGGGGCGCTGTGGGCAGGGCTGTGGGTGGAGCCAC AGGGACCGGCGCTGTGGGCATGGCCCTGGGTGCAGCCGCAGGGAGGGGGC GCTGTGGGCACGGCCGTGGGTGCAGCCACAGGGAGGGGGCGCTGTGGGCA TGGCCGTGGATGGAGTGACAGGGAGGGGGCGCTGTGGGCACGGCCGT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0022 a0022	a0022c0074 a0022c0074	a0022c0074t0002 a0022c0074t0002	a0022c0074t0002g0019 a0022c0074t0002g0019	1	184	0.0054	796	c.533 others(813): Show c.5337+277_5337+278insACGGCCGTGCCCACAGCGCCCCCTCCCT GTCACTCCATCCACGGCCATGCCCACAGCGCCCCCTCCCTGTGGCTGCAC CCACGGCCGTGCCCACAGCGCCCCCTCCCTGCGGCTGCACCCAGGGCCAT GCCCACAGCGCCGGTCCCTGTGGCTCCACCCACAGCCCTGCCCACAGCGC CCCCTCCCTGTCGCTCCACCCACGGCCGTGCCCACAGCGCCCCTCCCTGT CGCTCCATCCACGGCTGTGCCCACAGCGCCCGTCCCTGTGGCTCCACCCA CGGCTGTGCCCACAGTGCCCCCTCCCTGTCACTCCATCCACGGCCATGCC CACAGCGCCCCCTCCCTGTGGCTGCACCCACGGCCGTGCCCACAGTGCCC CCTCCCTGCGGCTGCACCCAGGGCGGTGCCCCACAGCGCCGGTCCCTGTG GCTCCACCCACAGCCCTGCCCACAGCGCCCCCTCCCTGTCGCTCCACCCA CGGCCGTGCCCACAGCGCCCCTCCCTGTCGCTCCATCCACGGCCGTGCCC ACAGCGCCCGTCCCTGTGGCTCCACCCACGGCCGTGCCCACAGCGCCCCC TCCCTGTGGCTCCATCCACGGCCGTGCCCACAGCGCCCCCTCCCTGCGGC TGCACCCTCGGCCGTGCCCACAGCGCCCCCTCCCTGCGGCTGCACCCTCG GCCGTGCCCACAGCGCCCCCCTCCCTGCGGCTGCACCCACGGCCGTGCCC ACAGCGCCCCCTCCCTGCGGCTGCACCCACGGCCGTGCCCACAGCGCCCC CTCCCTGCGGCTGCACCC	PLXNB2	ENSG00000196576.16	transcript	ENST00000359337.9	protein_coding	35/36			chr22	TogoVar
PLXNB2_chr22_50269979_50312646	50276365	G G	GGGAGGGG others(789): Show GGGAGGGGGCGCTGTGGGCACGGCCGTGGGTGCAGCCGCAGGGAGGGGGC GCTGTGGGCACGGCCGTGGGTGCAGCCGCAGGGAGGGGGCGCTGTGGGCA CGGCCGAGGGTGCAGCCGCAGGGAGGGGGCGCTGTGGGCACGGCCGAGGG TGCAGCCGCAGGGAGGGGGCGCTGTGGGCACGGCCGTGGATGGAGCCACA GGGAGGGGGCGCTGTGGGCACGGCCGTGGGTGGAGCCACAGGGACGGGCG CTGTGGGCACGGCCGTGGATGGAGCGACAGGGAGGGGCGCTGTGGGCACG GCCGTGGGTGGAGCGACAGGGAGGGGGCGCTGTGGGCAGGGCTGTGGGTG GAGCCACAGGGACCGGCGCTGTGGGCACCGCCCTGGGTGCAGCCGCAGGG AGGGGGCACTGTGGGCACGGCCGTGGGTGCAGCCACAGGGAGGGGGCGCT GTGGGCATGGCCGTGGATGGAGTGACAGGGAGGGGGCACTGTGGGCACAG CCGTGGGTGGAGCCACAGGGACGGGCGCTGTGGGCACAGCCGTGGATGGA GCGACAGGGAGGGGCGCTGTGGGCACGGCCGTGGGTGGAGCGACAGGGAG GGGGCGCTGTGGGCAGGGCTGTGGGTGGAGCCACAGGGACCGGCGCTGTG GGCATGGCCCTGGGTGCAGCCGCAGGGAGGGGGCGCTGTGGGCACGGCCG TGGGTGCAGCCACAGGGAGGGGGCGCTGTGGGCATGGCCGTGGATGGAGT GACAGGGAGGGGGCGCTGTGGGCACGGCCGTGGGTGCAGCCGCAGGA	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0178 a0002c0005t0002g0178	1	300	0.0033	796	c.533 others(813): Show c.5337+263_5337+264insTCCTGCGGCTGCACCCACGGCCGTGCCC ACAGCGCCCCCTCCCTGTCACTCCATCCACGGCCATGCCCACAGCGCCCC CTCCCTGTGGCTGCACCCACGGCCGTGCCCACAGCGCCCCCTCCCTGCGG CTGCACCCAGGGCCATGCCCACAGCGCCGGTCCCTGTGGCTCCACCCACA GCCCTGCCCACAGCGCCCCCTCCCTGTCGCTCCACCCACGGCCGTGCCCA CAGCGCCCCTCCCTGTCGCTCCATCCACGGCTGTGCCCACAGCGCCCGTC CCTGTGGCTCCACCCACGGCTGTGCCCACAGTGCCCCCTCCCTGTCACTC CATCCACGGCCATGCCCACAGCGCCCCCTCCCTGTGGCTGCACCCACGGC CGTGCCCACAGTGCCCCCTCCCTGCGGCTGCACCCAGGGCGGTGCCCACA GCGCCGGTCCCTGTGGCTCCACCCACAGCCCTGCCCACAGCGCCCCCTCC CTGTCGCTCCACCCACGGCCGTGCCCACAGCGCCCCTCCCTGTCGCTCCA TCCACGGCCGTGCCCACAGCGCCCGTCCCTGTGGCTCCACCCACGGCCGT GCCCACAGCGCCCCCTCCCTGTGGCTCCATCCACGGCCGTGCCCACAGCG CCCCCTCCCTGCGGCTGCACCCTCGGCCGTGCCCACAGCGCCCCCTCCCT GCGGCTGCACCCTCGGCCGTGCCCACAGCGCCCCCTCCCTGCGGCTGCAC CCACGGCCGTGCCCACAGCGCCCCCTCCCTGCGGCTGCACCCACGGCCGT GCCCACAGCGCCCCCTCC	PLXNB2	ENSG00000196576.16	transcript	ENST00000359337.9	protein_coding	35/36			chr22	TogoVar
PLXNB2_chr22_50269979_50312646	50276402	G G	GCAGGGAG others(789): Show GCAGGGAGGGGGCGCTGTGGGCACGGCCGAGGGTGCAGCCGCAGGGAGGG GGCGCTGTGGGCACGGCCGTGGGTGCAGCCGCAGGGAGGGGGCGCTGTGG GCACGGCCGTGGATGGAGCCACAGGGAGGGGGCGCTGTGGGCACGGCCGT GGGTGCAGCCGCAGGGAGGGGGCGCTGTGGGCACGGCCGAGGGTGCAGCC GCAGGGAGGGGGCGCTGTGGGCACGGCCGTGGATGGAGCCACAGGGAGGG GGCGCTGTGGGCAGGGCTGTGGGTGGAGCCACAGGGACGGGCGCTGTGGG CACAGCCGTGGATGGAGCGACAGGGAGGGGCGCTGTGGGCACGGCCGTGG GTGGAGCGACAGGGAGGGGGCGCTGTGGGCAGGGCCGCGGTTGGAGCCAC AGGGACGGGCGCTGTGGGCACGGCCGTGGGTGGAGCCACAGGGACGGGCG CTGTGGGCACGGCCGTGGGTGCAGCCGCAGGGAGGGGGCGCTGTGGGCAC GGCCGTGGGTGCAGCCGCAGGGAGGGGGCGCTGTGGGCACGGCCGTGGAT GGAGCAACAGGGAGGGGGCGCTGTGGGCACGGCCGTGGGTGCAGCCGCAG GGATGGGGCGCTGTGGGCACGGCCGTGGATGGAGTGACAGGGAGGGGGCG CTGTGGGCACGGCCGTGGGTGCAGCCGCAGGGAGGGGGCGCTGTGGGCAC GGCCGTGGATGGAGTGACAGGGAGGGGGCGCTGTGGGCACGGCCGTGGGT GCAGCCGCAGGGAGGGGGCGCTGTGGGCACGGCCGTGGATGGAGTGA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02109.hp1 HG02896.hp2 others(2): Show HG01884.hp2 HG02109.hp1 HG02896.hp2 HG02897.hp2 HG06807.hp1	a0002 a0014 a0002 a0014	a0002c0007 a0014c0027 a0002c0007 a0014c0027	a0002c0007t0001 a0014c0027t0001 a0002c0007t0001 a0014c0027t0001	a0002c0007t0001g0001 a0002c0007t0001g0012 a0014c0027t0001g0011 others(1): Show a0002c0007t0001g0001 a0002c0007t0001g0012 a0014c0027t0001g0011 a0014c0027t0001g0014	5	137	0.0365	796	c.533 others(813): Show c.5337+226_5337+227insTCACTCCATCCACGGCCGTGCCCACAGC GCCCCCTCCCTGCGGCTGCACCCACGGCCGTGCCCACAGCGCCCCCTCCC TGTCACTCCATCCACGGCCGTGCCCACAGCGCCCCCTCCCTGCGGCTGCA CCCACGGCCGTGCCCACAGCGCCCCCTCCCTGTCACTCCATCCACGGCCG TGCCCACAGCGCCCCATCCCTGCGGCTGCACCCACGGCCGTGCCCACAGC GCCCCCTCCCTGTTGCTCCATCCACGGCCGTGCCCACAGCGCCCCCTCCC TGCGGCTGCACCCACGGCCGTGCCCACAGCGCCCCCTCCCTGCGGCTGCA CCCACGGCCGTGCCCACAGCGCCCGTCCCTGTGGCTCCACCCACGGCCGT GCCCACAGCGCCCGTCCCTGTGGCTCCAACCGCGGCCCTGCCCACAGCGC CCCCTCCCTGTCGCTCCACCCACGGCCGTGCCCACAGCGCCCCTCCCTGT CGCTCCATCCACGGCTGTGCCCACAGCGCCCGTCCCTGTGGCTCCACCCA CAGCCCTGCCCACAGCGCCCCCTCCCTGTGGCTCCATCCACGGCCGTGCC CACAGCGCCCCCTCCCTGCGGCTGCACCCTCGGCCGTGCCCACAGCGCCC CCTCCCTGCGGCTGCACCCACGGCCGTGCCCACAGCGCCCCCTCCCTGTG GCTCCATCCACGGCCGTGCCCACAGCGCCCCCTCCCTGCGGCTGCACCCA CGGCCGTGCCCACAGCGCCCCCTCCCTGCGGCTGCACCCTCGGCCGTGCC CACAGCGCCCCCTCCCTG	PLXNB2	ENSG00000196576.16	transcript	ENST00000359337.9	protein_coding	35/36			chr22	TogoVar
PLXNB2_chr22_50269979_50312646	50276402	G G	GCAGGGAG others(789): Show GCAGGGAGGGGGCGCTGTGGGCACGGCCGAGGGTGCAGCCGCAGGGAGGG GGCGCTGTGGGCACGGCCGTGGGTGCAGCCGCAGGGAGGGGGCGCTGTGG GCACGGCCGTGGATGGAGCCACAGGGAGGGGGCGCTGTGGGCACGGCCGT GGGTGCAGCCGCAGGGAGGGGGCGCTGTGGGCACGGCCGAGGGTGCAGCC GCAGGGAGGGGGCGCTGTGGGCACGGCCGTGGATGGAGCCACAGGGAGGG GGCGCTGTGGGCAGGGCTGTGGGTGGAGCCACAGGGACGGGCGCTGTGGG CACAGCCGTGGATGGAGCGACAGGGAGGGGCGCTGTGGGCACGGCCGTGG GTGGAGCGACAGGGAGGGGGCGCTGTGGGCAGGGCTGCGGGTGGAGCCAC AGGGACGGGCGCTGTGGGCACGGCCGTGGGTGGAGCCACAGGGACGGGCG CTGTGGGCACGGCCGTGGGTGCAGCCGCAGGGAGGGGGCGCTGTGGGCAC GGCCGTGGGTGCAGCCGCAGGGAGGGGGCGCTGTGGGCACGGCCGTGGAT GGAGCAACAGGGAGGGGGCGCTGTGGGCACGGCCGTGGGTGCAGCCGCAG GGATGGGGCGCTGTGGGCACGGCCGTGGATGGAGTGACAGGGAGGGGGCG CTGTGGGCACGGCCGTGGGTGCAGCCGCAGGGAGGGGGCGCTGTGGGCAC GGCCGTGGATGGAGTGACAGGGAGGGGGCGCTGTGGGCACGGCCGTGGGT GCAGCCGCAGGGAGGGGGCGCTGTGGGCACGGCCGTGGATGGAGTGA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02055.hp1 HG02145.hp2 others(10): Show HG01891.hp1 HG02055.hp1 HG02145.hp2 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02717.hp2 HG02809.hp2 HG03540.hp2 HG06807.hp2 NA18906.hp1 NA19043.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0051 a0002c0010 a0002c0013 others(3): Show a0001c0051 a0002c0010 a0002c0013 a0002c0014 a0002c0064 a0003c0041	a0001c0051t0003 a0002c0010t0003 a0002c0013t0003 others(3): Show a0001c0051t0003 a0002c0010t0003 a0002c0013t0003 a0002c0014t0003 a0002c0064t0003 a0003c0041t0003	a0001c0051t0003g0120 a0002c0010t0003g0243 a0002c0010t0003g0244 others(10): Show a0001c0051t0003g0120 a0002c0010t0003g0243 a0002c0010t0003g0244 a0002c0010t0003g0245 a0002c0010t0003g0246 a0002c0010t0003g0278 a0002c0010t0003g0279 a0002c0013t0003g0228 a0002c0013t0003g0230 a0002c0013t0003g0291 a0002c0014t0003g0036 a0002c0064t0003g0282 a0003c0041t0003g0075	13	145	0.0897	796	c.533 others(813): Show c.5337+226_5337+227insTCACTCCATCCACGGCCGTGCCCACAGC GCCCCCTCCCTGCGGCTGCACCCACGGCCGTGCCCACAGCGCCCCCTCCC TGTCACTCCATCCACGGCCGTGCCCACAGCGCCCCCTCCCTGCGGCTGCA CCCACGGCCGTGCCCACAGCGCCCCCTCCCTGTCACTCCATCCACGGCCG TGCCCACAGCGCCCCATCCCTGCGGCTGCACCCACGGCCGTGCCCACAGC GCCCCCTCCCTGTTGCTCCATCCACGGCCGTGCCCACAGCGCCCCCTCCC TGCGGCTGCACCCACGGCCGTGCCCACAGCGCCCCCTCCCTGCGGCTGCA CCCACGGCCGTGCCCACAGCGCCCGTCCCTGTGGCTCCACCCACGGCCGT GCCCACAGCGCCCGTCCCTGTGGCTCCACCCGCAGCCCTGCCCACAGCGC CCCCTCCCTGTCGCTCCACCCACGGCCGTGCCCACAGCGCCCCTCCCTGT CGCTCCATCCACGGCTGTGCCCACAGCGCCCGTCCCTGTGGCTCCACCCA CAGCCCTGCCCACAGCGCCCCCTCCCTGTGGCTCCATCCACGGCCGTGCC CACAGCGCCCCCTCCCTGCGGCTGCACCCTCGGCCGTGCCCACAGCGCCC CCTCCCTGCGGCTGCACCCACGGCCGTGCCCACAGCGCCCCCTCCCTGTG GCTCCATCCACGGCCGTGCCCACAGCGCCCCCTCCCTGCGGCTGCACCCA CGGCCGTGCCCACAGCGCCCCCTCCCTGCGGCTGCACCCTCGGCCGTGCC CACAGCGCCCCCTCCCTG	PLXNB2	ENSG00000196576.16	transcript	ENST00000359337.9	protein_coding	35/36			chr22	TogoVar
PNKD_chr2_218265519_218351793	218316562	T T	TGCCCGGC others(789): Show TGCCCGGCCAGGAAGTTTTTTTTTTTTTTTTTTTTTTTTTTTAAATTTAT TTTTTTATTGATAATTCTTGGGTGTTTCTCACAGAGGGGGATTTGGCAGG GTCATGGGACAATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAA GGTCTCTGGTTTTCCTAGGCAGAGGACCCTGCGGCCTTCCGCAGTGTTTG TGTCCCTGATTACTTGAGATTAGGGATTGGTGATGACTCTTAACGAGCAT GCTGCCTTCAAGCATCTGTTTAACAAAGCACATCTTGCACCGCCCTTAAT CCATTTAACCCTGAGTGGACACAGCACATGTTTCAGAGAGCACAGGGTTG GGGGTAAGGTCACAGATCAACAGGATCCCAAGGCAGAGGAATTTTTCTTA GTGCAGAACAAAATGAAAAGTCTCCCATGTCTACTTCTTTCTACACAGAC ACGGCAACCATCCGATTTCTCAATCTTTTCCCCACCTTTCCCGCCTTTCT ATTCCACAAAGCCGCCATTGTCATCCTGGCCCGTTCTCAATGAGCTGTTG GGCACACCTCCCAGACGGGGTGGTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGG CTGGCCGGGCAGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGG CTGGCCGGGCGGGGGGCTGACCCCCCAACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCG	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0122 a0001c0001t0003g0122	1	278	0.0036	796	c.237 others(815): Show c.237-23202_237-23201insTTTTTTTTTTTTTTTTTTTTTTAAAT TTATTTTTTTATTGATAATTCTTGGGTGTTTCTCACAGAGGGGGATTTGG CAGGGTCATGGGACAATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAA CAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGCGGCCTTCCGCAGTG TTTGTGTCCCTGATTACTTGAGATTAGGGATTGGTGATGACTCTTAACGA GCATGCTGCCTTCAAGCATCTGTTTAACAAAGCACATCTTGCACCGCCCT TAATCCATTTAACCCTGAGTGGACACAGCACATGTTTCAGAGAGCACAGG GTTGGGGGTAAGGTCACAGATCAACAGGATCCCAAGGCAGAGGAATTTTT CTTAGTGCAGAACAAAATGAAAAGTCTCCCATGTCTACTTCTTTCTACAC AGACACGGCAACCATCCGATTTCTCAATCTTTTCCCCACCTTTCCCGCCT TTCTATTCCACAAAGCCGCCATTGTCATCCTGGCCCGTTCTCAATGAGCT GTTGGGCACACCTCCCAGACGGGGTGGTGGCCGGGCAGAGGGGCTCCTCA CTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGG GCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGG GCGGCTGGCCGGGCGGGGGGCTGACCCCCCAACCTCCCTCCCGGACGGGG CGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGC GGCCCGGCCAGGAAGTTTTT	PNKD	ENSG00000127838.15	transcript	ENST00000273077.9	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
POLG_chr15_89311320_89339824	89325073	T T	TGAGAGAG others(789): Show TGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGAG AGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGTGAGTGAGTGAGTGAGTG AGTGAGAGAGTGAGTGAGTGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAG AGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGAGTGAGAGAGTGAGTG AGTGAGTGAGTGAGTGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTG AGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAG TGAGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGAGAG TGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTG AGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAG AGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTG AGAGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAG TGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGAG AGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAG TGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGAGTGAG TGAGAGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTG AGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGA	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0002 a0002	a0002c0028 a0002c0028	a0002c0028t0001 a0002c0028t0001	a0002c0028t0001g0150 a0002c0028t0001g0150	1	379	0.0026	796	c.194 others(813): Show c.1949+376_1949+377insTCTCACTCTCTCACTCACTCACTCTCTC ACTCACTCACTCACTCTCTCACTCACTCACTCACTCACTCTCTCACTCAC TCACTCACTCACTCTCTCACTCACTCTCACTCACTCTCTCACTCACTCAC TCACTCACTCTCTCACTCACTCACTCTCTCACTCACTCACTCACTCTCTC ACTCACTCTCTCACTCACTCTCTCACTCACTCTCTCACTCACTCTCTCAC TCACTCTCTCACTCACTCACTCACTCACTCTCTCACTCACTCTCTCACTC ACTCTCTCACTCACTCTCTCACTCACTCACTCTCTCACTCACTCACTCAC TCTCTCACTCACTCACTCTCTCACTCACTCACTCTCTCACTCACTCACTC ACTCACTCTCTCACTCACTCACTCTCTCACTCACTCACTCTCTCACTCAC TCACTCACTCACTCACTCACTCTCTCACTCACTCTCTCACTCTCTCACTC ACTCACTCACTCACTCTCACTCACTCACTCACTCACTCTCTCACTCACTC ACTCTCTCACTCACTCACTCACTCACTCACTCTCTCACTCACTCTCTCAC TCACACTCACTCACTCACTCACTCACTCTCTCACTCTCACTCACTCACTC ACTCACTCTCTCACTCACTCTCTCACTCACTCACTCACTCACTCACTCTC ACTCACTCACTCTCTCACTCACTCACTCACTCACTCACTCTCTCTCACTC ACTCACTCTCTCACTCACTCTCTCACTCACTCACTCACTCACTCTCTCAC TCACTCACTCACTCTCTC	POLG	ENSG00000140521.18	transcript	ENST00000268124.11	protein_coding	10/22			chr15	TogoVar
PRKCZ_chr1_2045411_2190395	2122138	C C	CACGGCTG others(789): Show CACGGCTGTAGTTAGGGTCACGGCTGTAGTTAGGGTCACGGTGGTGGTTA GCGTCATGGTGGTGGTTAGGGTCACGGCGGTGGTTAGGGTCACGGCTGTA GTTAGGGTCACGGTGGTGGTTAGGGTCACGGCGGTGGTTAGGGTCGTGGT GGTAGTTAGGGTCACAGTGGTGGTTAGGGTCTCGGCGGTGGTTAGGGTCA CCGCGGTGGTTAGGGTCACGGTGGTGGTTAGGGTCACGGTGGTGGTTAGG GTCACGGCGGTGGTTAGGGTCACGGTGGTAGTTAGGGTCATGGTGGTAGT TAGGGTCACGGCTGTAGTTAGCGTCATGGGTGGTAGTTAGGGTCACGGTG GTGGTTAGGGTCACGGTGGTAGTTAGGGTCACGGTGGTGGTTAGGGTCAC GGTGGTAGTTAGGGTCATGGCGGTAGTTAGCGTCATGGTGGTAGTTAGGG TCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGCGTCATGGTGGTGGTT AGGGTCATGGTGGTAGTTAGGGTCATGGTGGGAGTTAGGGTCACGGCTAT AGTTGGGGTCATGGTGGTAGTTAGGGTCACAGCGATAGTTAGCGTCATGG TGGTAGTTAGGGTCATGGTGGGAGTTAGGGTCACGGTGGTAGTTAGGGTC ATGGTGGTAGTTAGGATCATGGCTGTAGTTAGCGTCATGGTGGTAGTTAG GGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCGTGGTGGTGG TTAGGGTCACGGTGGTGGTTAGGGTCGTGGTGGTAGTTAGGGTCACG	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03471.hp2 HG03041.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0018 a0001c0001t0002g0022 a0001c0001t0002g0018 a0001c0001t0002g0022	2	186	0.0108	796	c.335 others(815): Show c.335-13124_335-13123insACGGCTGTAGTTAGGGTCACGGCTGT AGTTAGGGTCACGGTGGTGGTTAGCGTCATGGTGGTGGTTAGGGTCACGG CGGTGGTTAGGGTCACGGCTGTAGTTAGGGTCACGGTGGTGGTTAGGGTC ACGGCGGTGGTTAGGGTCGTGGTGGTAGTTAGGGTCACAGTGGTGGTTAG GGTCTCGGCGGTGGTTAGGGTCACCGCGGTGGTTAGGGTCACGGTGGTGG TTAGGGTCACGGTGGTGGTTAGGGTCACGGCGGTGGTTAGGGTCACGGTG GTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGCGTCAT GGGTGGTAGTTAGGGTCACGGTGGTGGTTAGGGTCACGGTGGTAGTTAGG GTCACGGTGGTGGTTAGGGTCACGGTGGTAGTTAGGGTCATGGCGGTAGT TAGCGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGG TAGTTAGCGTCATGGTGGTGGTTAGGGTCATGGTGGTAGTTAGGGTCATG GTGGGAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGT CACAGCGATAGTTAGCGTCATGGTGGTAGTTAGGGTCATGGTGGGAGTTA GGGTCACGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTA GTTAGCGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGT GGTAGTTAGGGTCGTGGTGGTGGTTAGGGTCACGGTGGTGGTTAGGGTCG TGGTGGTAGTTAGGGTCACG	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17			chr1	TogoVar
PTPN4_chr2_119754922_119989899	119843900	G G	GGACGGGG others(789): Show GGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTC CCGGAGGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCTGGGCGGGGGGCCGGGCAGGGGGCCGACCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGATCCCCCC ACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGTGG CTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGGCCGACCCCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGGCTGAC CCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCT GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCG ACATCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGAGGGCCGA CCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCCGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCA	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0230 a0001c0001t0002g0230	1	201	0.0050	796	c.139 others(815): Show c.139-18614_139-18613insGGGGGCTGACCCCCCCCCACCTCCCT CCCGGAGGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCTGGGCGGGGGGCCGGGCAGGGGGCCGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGATCCCCC CACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGTG GCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCGGGGGGCCGACCCCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGGCTGA CCCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCC GACATCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGAGGGCCG ACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCG ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCCGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGA CGGGGCGGCTGGCCGGGCGG	PTPN4	ENSG00000088179.9	transcript	ENST00000263708.7	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
PTPN4_chr2_119754922_119989899	119843900	G G	GGACGGGG others(789): Show GGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTC CCGGAGGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCTGGGCGGGGGGCCGGGCAGGGGGCCGACCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCCGATCCCCC CACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGTG GCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCGGGGGGCCGACCCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGGCTGAC CCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCT GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCG ACATCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGAGGGCCGA CCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCCGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0228 a0001c0001t0002g0228	1	201	0.0050	796	c.139 others(815): Show c.139-18614_139-18613insGGGGGCTGACCCCCCCCCACCTCCCT CCCGGAGGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCTGGGCGGGGGGCCGGGCAGGGGGCCGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCCGATCCCC CCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGT GGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGCCGACCCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGGCTGA CCCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCC GACATCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGAGGGCCG ACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCG ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCCGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGA CGGGGCGGCTGGCCGGGCGG	PTPN4	ENSG00000088179.9	transcript	ENST00000263708.7	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
RAB3C_chr5_58578075_58864394	58597333	T T	TATGTAAT others(789): Show TATGTAATACACAATATATATTATATAATATGTAATACACAATATATATT ATATAATATGTAATACACAATATATATTATATAATATGTAATACACAATA TATATTATATAATATGTAATACACAATATATATTATATAATAATATGTAA TACACAATATATATTATATAATAATATGTAATACACAATATATTATATAA TAATATGTAATACACAATATATTATATAATAATATGTAATACACAATATA TTAGATAATAATATGTAATACACAATATATTATATAATAATATGTAATAC ACAATATATTATATAATAATATGTAATACACAATATATTATATAATAATA TGTAATACACAATATATTATATAATAATATGTAATACACAATATATTATA TAATAATATGTAATACACAATATATTATATAATAATATGTAATACACAAT ATATTATATAATAATATGTAATACACAATATATTATATAATAATATGTAA TACACAATATATTATATAATAATATGTAATACACAATATATTATATAATA ATATGTAATACACAATATATTATATAATAATATGTAATACATTATACATT ATTATATAAGTATATGTAATACATTATACATTATTATATAAGTATATGTA ATATATATTATACATTATTATATAAGTATATGTAATATATATTATACATT ATTATATAAGCATATAATATATAATACATAATACATTATATATAAGCATA TAACAATACATAATACATTATATATAAGCATATAACAATACATAGTA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02622.hp1 HG02258.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0131 a0001c0001t0019g0132 a0001c0001t0019g0131 a0001c0001t0019g0132	2	20	0.1000	796	c.24+ others(813): Show c.24+14101_24+14102insATGTAATACACAATATATATTATATAAT ATGTAATACACAATATATATTATATAATATGTAATACACAATATATATTA TATAATATGTAATACACAATATATATTATATAATATGTAATACACAATAT ATATTATATAATAATATGTAATACACAATATATATTATATAATAATATGT AATACACAATATATTATATAATAATATGTAATACACAATATATTATATAA TAATATGTAATACACAATATATTAGATAATAATATGTAATACACAATATA TTATATAATAATATGTAATACACAATATATTATATAATAATATGTAATAC ACAATATATTATATAATAATATGTAATACACAATATATTATATAATAATA TGTAATACACAATATATTATATAATAATATGTAATACACAATATATTATA TAATAATATGTAATACACAATATATTATATAATAATATGTAATACACAAT ATATTATATAATAATATGTAATACACAATATATTATATAATAATATGTAA TACACAATATATTATATAATAATATGTAATACACAATATATTATATAATA ATATGTAATACATTATACATTATTATATAAGTATATGTAATACATTATAC ATTATTATATAAGTATATGTAATATATATTATACATTATTATATAAGTAT ATGTAATATATATTATACATTATTATATAAGCATATAATATATAATACAT AATACATTATATATAAGCATATAACAATACATAATACATTATATATAAGC ATATAACAATACATAGTA	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	1/4			chr5	TogoVar
RPH3AL_chr17_207389_357807	242867	C C	CCCTTCCT others(789): Show CCCTTCCTCTATTGATTACCTTCCTCTATTGATTACCCTTCCTCTATTGA CTACCTTCCTCTATTGATTACCTTCCTCTATTGATTACCTTCCTCTATTG ATTACCCTTCCTCTATTGATTACCTTCCTCTATTGATTACCCTTCCTCTA TTGACTACCTTCCTCTATTGACTACCTTCCTCTATTGATTACCTTCCTCT ATTGATTACCCTTCCTCTATTGATTACCTTCCTCTATTGATTACCCTTCC TCTATTGACTACCTTCCTCTATTGACTACCTTCCTCTATTGACTACCTTC CTCTATTGATTACCCTTCCTCTATTGACTACCTTCCTCTATTGACTACCT TCCTCTATTGACTACCTTCCTCTATTGAATACCTTCCTCTATTGAATACC TTCCTCTATTGACTACCTTCCTCTATTGATTACCTTCCTCTATTGATTAC CCTTCCTCTATTGATTACCTTCCTCTATTGATTACCTTTCCTCTACTGAT TACCTTCCTCTACTGATTGCCCCTCCTCTACTGATTGCCCCTCCTCTATT GATTACCTTCCTCTATTGACTACCTTCCTCTATTGACTACCTTCCTCTAT TGATTACCTTCCTCTATTGATTACCTTCCTCTATTGATTACCCTTCCTCT ATTGATTACCTTCCTCTATTGATTACCCTTCCTCTATTGACTACCTTCCT CTATTGACTACCTTCCTCTATTGATTACCTTCCTCTATTGATTACCCTTC CTCTATTGATTACCTTCCTCTATTGATTACCCTTCCTCTATTGACTA	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02895.hp2 HG02165.hp1 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0003t0030 a0001c0001t0003 a0001c0003t0030	a0001c0001t0003g0034 a0001c0003t0030g0122 a0001c0001t0003g0034 a0001c0003t0030g0122	2	95	0.0211	796	c.613 others(813): Show c.613+4243_613+4244insTAGTCAATAGAGGAAGGGTAATCAATAG AGGAAGGTAATCAATAGAGGAAGGGTAATCAATAGAGGAAGGTAATCAAT AGAGGAAGGTAGTCAATAGAGGAAGGTAGTCAATAGAGGAAGGGTAATCA ATAGAGGAAGGTAATCAATAGAGGAAGGGTAATCAATAGAGGAAGGTAAT CAATAGAGGAAGGTAATCAATAGAGGAAGGTAGTCAATAGAGGAAGGTAG TCAATAGAGGAAGGTAATCAATAGAGGAGGGGCAATCAGTAGAGGAGGGG CAATCAGTAGAGGAAGGTAATCAGTAGAGGAAAGGTAATCAATAGAGGAA GGTAATCAATAGAGGAAGGGTAATCAATAGAGGAAGGTAATCAATAGAGG AAGGTAGTCAATAGAGGAAGGTATTCAATAGAGGAAGGTATTCAATAGAG GAAGGTAGTCAATAGAGGAAGGTAGTCAATAGAGGAAGGTAGTCAATAGA GGAAGGGTAATCAATAGAGGAAGGTAGTCAATAGAGGAAGGTAGTCAATA GAGGAAGGTAGTCAATAGAGGAAGGGTAATCAATAGAGGAAGGTAATCAA TAGAGGAAGGGTAATCAATAGAGGAAGGTAATCAATAGAGGAAGGTAGTC AATAGAGGAAGGTAGTCAATAGAGGAAGGGTAATCAATAGAGGAAGGTAA TCAATAGAGGAAGGGTAATCAATAGAGGAAGGTAATCAATAGAGGAAGGT AATCAATAGAGGAAGGTAGTCAATAGAGGAAGGGTAATCAATAGAGGAAG GTAATCAATAGAGGAAGG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
SLAIN1_chr13_77692687_77769229	77703950	A A	AAATATAT others(789): Show AAATATATATACATATGTTTTATAAGTGTATATATACACATATAAAATAT ATATACATATGTTTTATAAGTGTATATATACACATATAAAATATATATAC ATATGTTTTATATGTGTATATATACACATATAAAATATATATACATATGT TTTATATGTGTATATATACACATATAAAATATATATACATATGTTTTATA TGTGTATATATACACATATAAAATATATATACATATGTTTTATATGTGTA TATATACACATATAAAATATATATACATATGTTTTATATGTGTATATATA CACATATAAAACATATGTATATATATTTTATATGTGTATATATACACATA TAAAATATATATACATATGTTTTATATGTGTATATATACACATATAAAAT ATATATACATATGTTTTATATGTGTATATATACACATATAAAATATATAT ACATATGTTTTATATGTATATATACATATAAAATATATATACATATGTTT TATATGTATATGTATACATATAAAATATATATACATATAAAATATATACA TATAAAATATATATGTTTTATATGTATATATACATATAAAATATATATGT TTTATATGTATATATACATATAAAATATATATACATATGTTTTATATGTA TATATATACATATAAAACATATATACATATGTTTTATATGTATATATACA TATAAAACATATATATATATGTTTTATATGTATATATATACATATAAATA TATATACATATGTTTTATATGTGTATATATACATAGAAAATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	293	0.0034	796	c.626 others(813): Show c.626+5434_626+5435insAGTGTATATATACACATATAAAATATAT ATACATATGTTTTATAAGTGTATATATACACATATAAAATATATATACAT ATGTTTTATATGTGTATATATACACATATAAAATATATATACATATGTTT TATATGTGTATATATACACATATAAAATATATATACATATGTTTTATATG TGTATATATACACATATAAAATATATATACATATGTTTTATATGTGTATA TATACACATATAAAATATATATACATATGTTTTATATGTGTATATATACA CATATAAAACATATGTATATATATTTTATATGTGTATATATACACATATA AAATATATATACATATGTTTTATATGTGTATATATACACATATAAAATAT ATATACATATGTTTTATATGTGTATATATACACATATAAAATATATATAC ATATGTTTTATATGTATATATACATATAAAATATATATACATATGTTTTA TATGTATATGTATACATATAAAATATATATACATATAAAATATATACATA TAAAATATATATGTTTTATATGTATATATACATATAAAATATATATGTTT TATATGTATATATACATATAAAATATATATACATATGTTTTATATGTATA TATATACATATAAAACATATATACATATGTTTTATATGTATATATACATA TAAAACATATATATATATGTTTTATATGTATATATATACATATAAATATA TATACATATGTTTTATATGTGTATATATACATAGAAAATATATATAATAT ATATACATATGTTTTATA	SLAIN1	ENSG00000139737.23	transcript	ENST00000418532.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
SLC6A12_chr12_185081_219157	197198	C C	CATCCATC others(789): Show CATCCATCTATCCATCCATCCATCCATCCATCTATCCATCCATCCATCCA TCCATCCATCCATCCATCCATCTATCCATCCATCTATCCATCCATCTATC CATCCATCCATCTACCCATCCATCCATCCATCCATCCATCCATCCATCCA TCTATCCATCTATCCATCTATCCATCCATCTATCCATCCATCCATCCATC CATCCATCTATCCATCTATCCATCCATCTATCCATCCATCCATCCATCCA TCCATCCATCCATCCATCTATCCATCTATCCATCCATCTATCCATCCATC TATCCATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCA TCCATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATC CATCTATCCATCCATCTATCCATCCATCTATCCATCCATCCATCCATCCA TCCATCCATCCATCTATCCATCCATCTATCCATCCATCCATCCATCCATC CATCCATCCATCTATCCATCCATCTATCCATCCATCTATCCATCCATCCA TCTACCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATC TACCCATCCATCCATCCATCCATCCATTCATCCATCCATCCATCCATCCA TCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATC TATCCATCCATCCATCCATCCATCCATCTATCCATCTATCCATCCATCCA TCCATCCATCTATCCATCCATCTATCCATCCATCCATCCATCCATCT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0055 a0002c0003t0003g0055	1	396	0.0025	796	c.107 others(813): Show c.1075+178_1075+179insAGATGGATGGATGGATGGATGGATAGAT GGATGGATAGATGGATGGATGGATGGATGGATAGATGGATAGATGGATGG ATGGATGGATGGATGGATAGATGGATGGATGGATGGATGGATGGATGGAT GGATGGATGGATAGATGGATGGATGGATGGATGGATGGATGAATGGATGG ATGGATGGATGGATGGGTAGATGGATGGATGGATGGATGGATGGATGGAT GGATGGATGGATGGGTAGATGGATGGATGGATAGATGGATGGATAGATGG ATGGATAGATGGATGGATGGATGGATGGATGGATGGATGGATAGATGGAT GGATAGATGGATGGATGGATGGATGGATGGATGGATGGATAGATGGATGG ATAGATGGATGGATAGATGGATGGATGGATGGATGGATGGATGGATGGAT GGATGGATAGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGG ATGGATAGATGGATGGATAGATGGATGGATAGATGGATGGATAGATGGAT AGATGGATGGATGGATGGATGGATGGATGGATGGATGGATAGATGGATGG ATAGATGGATAGATGGATGGATGGATGGATGGATGGATAGATGGATGGAT AGATGGATAGATGGATAGATGGATGGATGGATGGATGGATGGATGGATGG ATGGGTAGATGGATGGATGGATAGATGGATGGATAGATGGATGGATAGAT GGATGGATGGATGGATGGATGGATGGATGGATGGATAGATGGATGGATGG ATGGATGGATAGATGGAT	SLC6A12	ENSG00000111181.13	transcript	ENST00000684302.1	protein_coding	10/15			chr12	TogoVar
SMYD3_chr1_245744347_246512279	246071783	G G	GTAGTTCT others(789): Show GTAGTTCTGGGGAGGGATTCGTGTGCTTTCCACTGTGCTCACTGTCGCTG CATCGTGTTAGTTCTGGGGAGGGATTCGTGTGCTTTCCGCTGTGCTCACT GTGGATGCTTCCTGTTAGTTCTGGGGAGGGATTCGTGTGCTTTCCACTGT GCTCACCGTGGATGCATCGTGTAGTTCTGGGGAGGGATTCGTGTGCTTTC CGCTGTGCTCACTGTGGATGCATCGTGTTAGTTCTGGGGAGGGATTCGTG TGCTTTCCACTGTGCTCACTGTGGATGCTTCCTGTTAGTTCTGGGGAGGG ATTCGTGTGCTTTCCACTGTGCTCACTGTGGATGCTTCCTGTTAGTTCTG GGGAGGGATTCGTGTGCTTTCCACTGTGCTCACTGTCGCTGCATCGTGTT AGTTCTGGGGAGGGATTCGTGTGCTTTCCACTGTGCTCACTGTGGATGCT TCCTGTTAGTTCTGGGGAGGGATTCGTGTGCTTTCCACTGTGCTCACTGT GGATGCTTCCTGTTAGTTCTGGGGAGGGATTCGTGTGCTTTCCACTGTGC TCACTGTCGCTGCATCGTGTAGTTCTGGGGAGGGATTCGTGTGCTTTCCA CTGTGCTCACTGTGGATGCTTCCTGTTAGTTCTGGGGAGGGATTCGTGTG CTTTCCACTGTGCTCACTGTCGCTGCATCGTGTTAGTTCTGGGGAGGGAT TCGTGTGCTTTCCACTGTGCTCACTGTCGCTGCATCGTGTTAGTTCTGGG GAGGGATTCGTGTGCTTTCCGCTGTGCTCACTGTGGATGCTTCCTGT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0001 a0002c0016t0001	a0002c0016t0001g0097 a0002c0016t0001g0097	1	130	0.0077	796	c.532 others(817): Show c.532-141847_532-141846insACAGGAAGCATCCACAGTGAGCAC AGCGGAAAGCACACGAATCCCTCCCCAGAACTAACACGATGCAGCGACAG TGAGCACAGTGGAAAGCACACGAATCCCTCCCCAGAACTAACACGATGCA GCGACAGTGAGCACAGTGGAAAGCACACGAATCCCTCCCCAGAACTAACA GGAAGCATCCACAGTGAGCACAGTGGAAAGCACACGAATCCCTCCCCAGA ACTACACGATGCAGCGACAGTGAGCACAGTGGAAAGCACACGAATCCCTC CCCAGAACTAACAGGAAGCATCCACAGTGAGCACAGTGGAAAGCACACGA ATCCCTCCCCAGAACTAACAGGAAGCATCCACAGTGAGCACAGTGGAAAG CACACGAATCCCTCCCCAGAACTAACACGATGCAGCGACAGTGAGCACAG TGGAAAGCACACGAATCCCTCCCCAGAACTAACAGGAAGCATCCACAGTG AGCACAGTGGAAAGCACACGAATCCCTCCCCAGAACTAACAGGAAGCATC CACAGTGAGCACAGTGGAAAGCACACGAATCCCTCCCCAGAACTAACACG ATGCATCCACAGTGAGCACAGCGGAAAGCACACGAATCCCTCCCCAGAAC TACACGATGCATCCACGGTGAGCACAGTGGAAAGCACACGAATCCCTCCC CAGAACTAACAGGAAGCATCCACAGTGAGCACAGCGGAAAGCACACGAAT CCCTCCCCAGAACTAACACGATGCAGCGACAGTGAGCACAGTGGAAAGCA CACGAATCCCTCCCCAGAACTA	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246071871	G G	GCTGTGCT others(789): Show GCTGTGCTCACTGTGGATGCTTCCTGTTAGTTCTGGGGAGGGATTCGTGT GCTTTCCACTGTGCTCACCGTGGATGCATCGTGTAGTTCTGGGGAGGGAT TCGTGTGCTTTCCGCTGTGCTCACTGTGGATGCTTCCTGTTAGTTCTGGG GAGGGATTCGTGTGCTTTCCGCTGTGCTCACTGTGGATGCTTCCTGTTAG TTCTGGGGAGGGATTCGTGTGCTTTCCGCTGTGCTCACTGTGGATGCTTC CTGTTAGTTCTGGGGAGGGATTCGTGTGCTTTCCGCTGTGCTCACTGTGG ATGCTTCCTGTTAGTTCTGGGGAGGGATTCGTGTGCTTTCCGCTGTGCTC ACTGTGGATGCTTCCTGTTAGTTCTGGGGAGGGATTCGTGTGCTTTCCAC TGTGCTCACCGTGGATGCATCGTGTAGTTCTGGGGAGGGATTCGTGTGCT TTCCGCTGTGCTCACTGTGGATGCTTCCTGTTAGTTCTGGGGAGGGATTC GTGTGCTTTCCACTGTGCTCACTGTGGATGCTTCCTGTTAGTTCTGGGGA GGGATTCGTGTGCTTTCCACTGTGCTCACTGTGGATGCTTCCTGTTAGTT CTGGGGAGGGATTCGTGTGCTTTCCACTGTGCTCACTGTGGATGCATCGT GTTAGTTCTGGGGAGGGATTCGTGTGCTTTCCACTGTGCTCACTGTCGCT GCATCGTGTTAGTTCTGGGGAGGGATTCGTGTGCTTTCCACTGTGCTCAC TGTCGCTGCATCGTGTTAGTTCTGGGGAGGGATTCGTGTGCTTTCCA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01243.hp1 HG01109.hp1 HG01243.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0112 a0002c0008t0001g0145 a0002c0008t0001g0112 a0002c0008t0001g0145	2	103	0.0194	796	c.532 others(817): Show c.532-141935_532-141934insTGGAAAGCACACGAATCCCTCCCC AGAACTAACACGATGCAGCGACAGTGAGCACAGTGGAAAGCACACGAATC CCTCCCCAGAACTAACACGATGCAGCGACAGTGAGCACAGTGGAAAGCAC ACGAATCCCTCCCCAGAACTAACACGATGCATCCACAGTGAGCACAGTGG AAAGCACACGAATCCCTCCCCAGAACTAACAGGAAGCATCCACAGTGAGC ACAGTGGAAAGCACACGAATCCCTCCCCAGAACTAACAGGAAGCATCCAC AGTGAGCACAGTGGAAAGCACACGAATCCCTCCCCAGAACTAACAGGAAG CATCCACAGTGAGCACAGCGGAAAGCACACGAATCCCTCCCCAGAACTAC ACGATGCATCCACGGTGAGCACAGTGGAAAGCACACGAATCCCTCCCCAG AACTAACAGGAAGCATCCACAGTGAGCACAGCGGAAAGCACACGAATCCC TCCCCAGAACTAACAGGAAGCATCCACAGTGAGCACAGCGGAAAGCACAC GAATCCCTCCCCAGAACTAACAGGAAGCATCCACAGTGAGCACAGCGGAA AGCACACGAATCCCTCCCCAGAACTAACAGGAAGCATCCACAGTGAGCAC AGCGGAAAGCACACGAATCCCTCCCCAGAACTAACAGGAAGCATCCACAG TGAGCACAGCGGAAAGCACACGAATCCCTCCCCAGAACTACACGATGCAT CCACGGTGAGCACAGTGGAAAGCACACGAATCCCTCCCCAGAACTAACAG GAAGCATCCACAGTGAGCACAG	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SNTG2_chr2_945849_1372613	1343273	T T	TCCCCCTG others(789): Show TCCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCAGCAGCT TCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAG TGGACTGGCACTTTCCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAG GACAGCGGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACA TGCATAGGAAGAGTGGACTGGCACTTTTCCCCTGTTCTGGGCACGCCTGG CCCAGCTCTGTAGGACAGCGGCAGCTTCCTCTCACTGGGACTTTTAATTT GGGAAGCAGGACATGCATAGGAAGAGTGGACTCGCACTTTTCCCCCTGTT CTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCAGCAGCTTCCTCTCACT GGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTCGCA CTTTTCCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCAGC AGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGA AGAGTGGACTGGCACTTTTCCCCCTGTTCTGGGCACGCCTGGCCCAGCTC TGTAGGACAGCGGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCA GGACATGCATAGGAAGAGTGGACTCGCACTTTTCCCCCTGTTCTGGGCAC GCCTGGCCCAGCTCTGTAGGACAGCAGCAGCTTCCTCTCACTGGGACTTT TAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTGGCACTTTA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0010 a0010	a0010c0029 a0010c0029	a0010c0029t0001 a0010c0029t0001	a0010c0029t0001g0152 a0010c0029t0001g0152	1	125	0.0080	796	c.148 others(817): Show c.1489-24066_1489-24065insCTGTTCTGGGCACGCCTGGCCCAG CTCTGTAGGACAGCAGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAA GCAGGACATGCATAGGAAGAGTGGACTGGCACTTTCCCCCTGTTCTGGGC ACGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCTTCCTCTCACTGGGACT TTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTGGCACTTTTC CCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCTTCC TCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGG ACTCGCACTTTTCCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGA CAGCAGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATG CATAGGAAGAGTGGACTCGCACTTTTCCCCCTGTTCTGGGCACGCCTGGC CCAGCTCTGTAGGACAGCAGCAGCTTCCTCTCACTGGGACTTTTAATTTG GGAAGCAGGACATGCATAGGAAGAGTGGACTGGCACTTTTCCCCCTGTTC TGGGCACGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCTTCCTCTCACTG GGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTCGCAC TTTTCCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCAGCA GCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAA GAGTGGACTGGCACTTTACCCC	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1343953	T T	TCCCCTGT others(789): Show TCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCTT CCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGT GGACTCACACTTTTCCCCCTGTTCTGGGCGCGCCTGGCCCAGCTCTGTAG GACAGCGGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACA TGCATAGGAAGAGTGGACTCACACTTTTCCCCCTGTTCTGGGCACGCCTG GCCCAGCTCTGTAGGACAGCGGCAGCTTCCTCTCACTGGGACTTTTAATT TGGGAAGCAGGACATGCATAGGAAGAGTGGACTCACACTTTTCCCCTGTT CTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCTTCCTCTCACT GGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTCGCA CTTTTCCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCGGC AGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGA AGAGTGGACTCGCACTTTTCCCCTGTTCTGGGCACGCCTGGCCCAGCTCT GTAGGACAGCAGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAG GACATGCATAGGAAGAGTGGACTCGCACTTTTCCCCCTGTTCTGGGCACG CCTGGCCCAGCTCTGTAGGACAGCGGCAGCTTCCTCTCACTGGGACTTTT AATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTCGCACTTTTC	intron_variant intron_variant	MODIFIER	HG02109.hp1 NA20300.hp2 HG02109.hp1 NA20300.hp2	a0007 a0007	a0007c0017 a0007c0024 a0007c0017 a0007c0024	a0007c0017t0001 a0007c0024t0002 a0007c0017t0001 a0007c0024t0002	a0007c0017t0001g0125 a0007c0024t0002g0073 a0007c0017t0001g0125 a0007c0024t0002g0073	2	162	0.0123	796	c.148 others(817): Show c.1489-23349_1489-23348insGGCAGCTTCCTCTCACTGGGACTT TTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTCACACTTTTCC CCCTGTTCTGGGCGCGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCTTCC TCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGG ACTCACACTTTTCCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGA CAGCGGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATG CATAGGAAGAGTGGACTCACACTTTTCCCCTGTTCTGGGCACGCCTGGCC CAGCTCTGTAGGACAGCGGCAGCTTCCTCTCACTGGGACTTTTAATTTGG GAAGCAGGACATGCATAGGAAGAGTGGACTCGCACTTTTCCCCCTGTTCT GGGCACGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCTTCCTCTCACTGG GACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTCGCACT TTTCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCAGCAGC TTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGA GTGGACTCGCACTTTTCCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGT AGGACAGCGGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGA CATGCATAGGAAGAGTGGACTCGCACTTTTCCCCCTGTTCTGGGCACGCC TGGCCCAGCTCTGTAGGACAGC	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1343995	A A	GGCAGCTT others(789): Show GGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATA GGAAGAGTGGACTCACACTTTTCCCCCTGTTCTGGGCGCGCCTGGCCCAG CTCTGTAGGACAGCGGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAA GCAGGACATGCATAGGAAGAGTGGACTCACACTTTTCCCCCTGTTCTGGG CACGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCTTCCTCTCACTGGGAC TTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTCACACTTTT CCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCTTC CTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTG GACTCGCACTTTTCCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGG ACAGCGGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACAT GCATAGGAAGAGTGGACTCGCACTTTTCCCCTGTTCTGGGCACGCCTGGC CCAGCTCTGTAGGACAGCAGCAGCTTCCTCTCACTGGGACTTTTAATTTG GGAAGCAGGACATGCATAGGAAGAGTGGACTCGCACTTTTCCCCCTGTTC TGGGCACGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCTTCCTCTCACTG GGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTCGCAC TTTTCCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCA	intron_variant intron_variant	MODIFIER	HG02572.hp1 NA19043.hp2 HG02572.hp1 NA19043.hp2	a0007 a0010 a0007 a0010	a0007c0016 a0010c0013 a0007c0016 a0010c0013	a0007c0016t0001 a0010c0013t0001 a0007c0016t0001 a0010c0013t0001	a0007c0016t0001g0032 a0010c0013t0001g0042 a0007c0016t0001g0032 a0010c0013t0001g0042	2	123	0.0163	796	c.148 others(817): Show c.1489-23349_1489-23348insGGCAGCTTCCTCTCACTGGGACTT TTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTCACACTTTTCC CCCTGTTCTGGGCGCGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCTTCC TCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGG ACTCACACTTTTCCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGA CAGCGGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATG CATAGGAAGAGTGGACTCACACTTTTCCCCTGTTCTGGGCACGCCTGGCC CAGCTCTGTAGGACAGCGGCAGCTTCCTCTCACTGGGACTTTTAATTTGG GAAGCAGGACATGCATAGGAAGAGTGGACTCGCACTTTTCCCCCTGTTCT GGGCACGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCTTCCTCTCACTGG GACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTCGCACT TTTCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCAGCAGC TTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGA GTGGACTCGCACTTTTCCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGT AGGACAGCGGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGA CATGCATAGGAAGAGTGGACTCGCACTTTTCCCCCTGTTCTGGGCACGCC TGGCCCAGCTCTGTAGGACAGC	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16			chr2	TogoVar
SPAAR_chr9_35904490_35916686	35913372	A A	ATGTGTGT others(789): Show ATGTGTGTGTAAGCTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTTTGC TGTGGTGTGTGTGTAAGCTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGT TTGCTGTGGTGTGTGTGTAAGCTGTATGTGTGTAGTGTGTATTTTTTTAT GCTGTGGTGTGTGTGTAAGCTGTATGTGTGTAGTGTGTGTTTTTGTATGC TGTGGTGTGTGTGTAAGCTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGT ATGCTGTGGTGTGTGTGTAAGCTGTATGTGTGTAGTGAGTGTGTGTGTTT TTGTATGCTGTGGTGTGTGTGTAAGCTGTATGTGTGTAGTGAGTGTGTGT GTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTATGTGTGTAGTGAGTGT GTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTATGTGTGTAGTGA GTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTATGTGTGTA GTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTATGTG TGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTA TGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGC TGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGT AAGCTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGT GTGTAAGCTGTATGTGTGTAGAGTGTGTGTGTTTTTGTTTGCTGTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0001 a0001c0003t0004g0001	1	418	0.0024	796	c.26 others(807): Show c.2681_*2682insTGTGTGTGTAAGCTGTATGTGTGTAGTGAGTGTG TGTGTTTTTGTTTGCTGTGGTGTGTGTGTAAGCTGTATGTGTGTAGTGAG TGTGTGTGTTTTTGTTTGCTGTGGTGTGTGTGTAAGCTGTATGTGTGTAG TGTGTATTTTTTTATGCTGTGGTGTGTGTGTAAGCTGTATGTGTGTAGTG TGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTATGTGTGTAGTGAG TGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTATGTGTGTAG TGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTATGTGT GTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTAT GTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCT GTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTA AGCTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTG TGTAAGCTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTG TGTGTGTAAGCTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGT GGTGTGTGTGTAAGCTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATG CTGTGGTGTGTGTGTAAGCTGTATGTGTGTAGTGAGTGTGTGTGTTTTTG TATGCTGTGGTGTGTGTGTAAGCTGTATGTGTGTAGAGTGTGTGTGTTTT TGTTTGCTGTGG	SPAAR	ENSG00000235387.5	transcript	ENST00000443779.3	protein_coding		1687		chr9	TogoVar
SPATA6_chr1_48290373_48477204	48384425	G G	GGAGAGGA others(789): Show GGAGAGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGAGAGGGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGCGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGGAGAGGGAGAGGGAGAGGGGAGAGGGGAGGGAGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGAGAGGGAGAGGGAGA GGGAGAGGAGAGGAGAGGGAGAGGGAGAGGGAAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGAGAGGGAGAGGGAGAGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGA GAGGGAGAGGGAGAGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGT	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0200 a0001c0001t0002g0200	1	320	0.0031	796	c.909 others(811): Show c.909+883_909+884insACCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCTCTCCCTCTCCCTCTCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCTCTCCCTCTCCCTCTCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTTCCCTCTCCCTCTCC CTCTCCTCTCCTCTCCCTCTCCCTCTCCCTCTCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCTCCCTCCCCTCTCCCCTCTCCCTCTCCC TCTCCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCGCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCCCTCTCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCTCTC	SPATA6	ENSG00000132122.12	transcript	ENST00000371847.8	protein_coding	9/12			chr1	TogoVar
SULF2_chr20_47652406_47790481	47670707	G G	GGGGGTGG others(789): Show GGGGGTGGGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTG GGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTGGGAGCGG GGTGGGAGAACGGGGTGAGAGCGGGGTGGGACAGCGGGGTGGGACAGCGG GGTGGGAGAACGGGGTGGGAGAGCGGGGTGGGAGAGCAGGGTGGGAGGGG TGGGAGAACGGGGTGGGGGTGGGAGGGGGGTGGGAGAACGGGGTGGGAGC GAGGTGGGAGAACGGGGTGAGAGCGGGGTGGGAGAGCGGGGTGGGGGTGA GAGCGGGGTGGGAGAACGGGGAGAGAGAGGGGTGGGGGAATGGGGTGGGA GCGGGGTGGGGGAACGGGGAGAGAGCGGGGTCGGGGAACGGGGTGAGAGC GGGGTGGGGGAACGGGGAGGGAGCGGGGTGGGGGAACGGGGAGAGAGCGG GGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGG TGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTG GGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGG GGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGG AACGGGGTGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAA CGGGGTGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACG GGGTGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGAGAAC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02818.hp2 HG02970.hp2 HG01167.hp2 HG02818.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0338 a0001c0001t0001g0350 a0001c0001t0007g0004 a0001c0001t0001g0338 a0001c0001t0001g0350 a0001c0001t0007g0004	3	6	0.5000	796	c.157 others(815): Show c.1576+1490_1576+1491insGTTCTCCCACCCCGCTCCCACCCCGT TCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTC CCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCC CCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCC ACCCCGCTCCCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCAC CCCGCTCCCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCC CGCTCCCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCG CTCCCACCCCGTTCCCCCACCCCGCTCTCTCCCCGTTCCCCCACCCCGCT CCCTCCCCGTTCCCCCACCCCGCTCTCACCCCGTTCCCCGACCCCGCTCT CTCCCCGTTCCCCCACCCCGCTCCCACCCCATTCCCCCACCCCTCTCTCT CCCCGTTCTCCCACCCCGCTCTCACCCCCACCCCGCTCTCCCACCCCGCT CTCACCCCGTTCTCCCACCTCGCTCCCACCCCGTTCTCCCACCCCCCTCC CACCCCCACCCCGTTCTCCCACCCCTCCCACCCTGCTCTCCCACCCCGCT CTCCCACCCCGTTCTCCCACCCCGCTGTCCCACCCCGCTGTCCCACCCCG CTCTCACCCCGTTCTCCCACCCCGCTCCCACCCCCACCCCGTTCTCCCAC CCCGTTCTCCCACCCCGCTCCCACCCCCACCCCGTTCTCCCACCCCGTTC TCCCACCCCGCTCCCACCCC	SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	11/20			chr20	TogoVar
TBC1D22A_chr22_46757650_47180693	47128216	C C	CCATCCTC others(789): Show CCATCCTCCCTCCACCCCACCCATCCCCCATCCTCCCTCCACCCCACCCA TCCCCCATCCTCCCTCCACCCCACCCATCCCCCATCCTCCCTCCACCCCA CCCATCCCCCATCCTCCCTCCACCCCACCCATCCCCCATCCTCCCTCCAC CCCACCCATCCTCCCCTCTGCCCCACCCATCCCCCCTCCCCTCACCCATC CCTCCCTCCGCCCCACCCATCCCTCCCTCCGCCCTACCCATCCTCCTCCG CCCCACCCACCCCCCCTCCGCCCCACCCATCCCCCCTCCCCTCACCCATC CCTCCCTCCGCCCCACCCATCCCTCCCTCCGCCCCACCCATCCCTCCCTC CGCCCCACCCATCCCTCCTCCCCTCACCCATCCCTCCATCCTCCCTCCAC CCCACCCATCCTCCCTCCACCCCACCCATCCTCCCCTCTGCCCCACCCAT CCCCCCTCCCCTCACCCATCCCTCCCTCCGCCCCACCCATCCCTCCCTCC GCCCTACCCATCCTCCTCCGCCCCACCCACCCCCCCTCCGCCCCACCCAT CCCCCCTCCCCTCACCCATCCCTCCCTCCGCCCCACCCATCCCTCCCTCC GCCCCACCCATCCCTCCTCCGCCCCACCCACCACCCCTCCGCCCCACCCA TCCCCCCTCCCCTCACCCATCCCTCCATCCTCCCTCCACCCCACCCATTC TCCCCTCCACCCCACCCATCCCCCATCCTCCCTCCACCCCACCCATCCTC CCCTCCACCCCACCCATCCCCCCTTCCCTCACCCATCCCTCCCTCCG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	7	0.1429	796	c.142 others(817): Show c.1425+16614_1425+16615insATCCTCCCTCCACCCCACCCATCC CCCATCCTCCCTCCACCCCACCCATCCCCCATCCTCCCTCCACCCCACCC ATCCCCCATCCTCCCTCCACCCCACCCATCCCCCATCCTCCCTCCACCCC ACCCATCCCCCATCCTCCCTCCACCCCACCCATCCTCCCCTCTGCCCCAC CCATCCCCCCTCCCCTCACCCATCCCTCCCTCCGCCCCACCCATCCCTCC CTCCGCCCTACCCATCCTCCTCCGCCCCACCCACCCCCCCTCCGCCCCAC CCATCCCCCCTCCCCTCACCCATCCCTCCCTCCGCCCCACCCATCCCTCC CTCCGCCCCACCCATCCCTCCCTCCGCCCCACCCATCCCTCCTCCCCTCA CCCATCCCTCCATCCTCCCTCCACCCCACCCATCCTCCCTCCACCCCACC CATCCTCCCCTCTGCCCCACCCATCCCCCCTCCCCTCACCCATCCCTCCC TCCGCCCCACCCATCCCTCCCTCCGCCCTACCCATCCTCCTCCGCCCCAC CCACCCCCCCTCCGCCCCACCCATCCCCCCTCCCCTCACCCATCCCTCCC TCCGCCCCACCCATCCCTCCCTCCGCCCCACCCATCCCTCCTCCGCCCCA CCCACCACCCCTCCGCCCCACCCATCCCCCCTCCCCTCACCCATCCCTCC ATCCTCCCTCCACCCCACCCATTCTCCCCTCCACCCCACCCATCCCCCAT CCTCCCTCCACCCCACCCATCCTCCCCTCCACCCCACCCATCCCCCCTTC CCTCACCCATCCCTCCCTCCGC	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TMEM163_chr2_134450759_134724000	134608358	A A	AAGGACAG others(789): Show AAGGACAGACCTTGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAAC TGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACA GACCCCGAGAACTGTACTGGTGAAAAGGACAGACCCCGAGAACTGTGCTG GTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGAGGACAGACC CCGAGAACTGTGCTGGTGAAAAGGAGGACAGACCCCGAGAACTGTGCTGG TGAAAAGGACAGACCCCGAGAACTGTACTGGTGAAAAGGAGGACAGACCC CGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAA AAGGAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAG AACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGG ACAGACCCCGAGAACTGTACTGGTGAAAAGGAGGACAGACCCCGAGAACT GTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAG ACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGG TGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGAGGACAGACCC CGAGAACTTTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAA AAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAAC TGTGCTGGTGAAAAGGACAGACCCCAAGAACTGTGCTGGTGAAAAGG	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0029 a0001c0001t0004g0029	1	81	0.0123	796	c.323 others(815): Show c.323-56268_323-56267insCCTTTTCACCAGCACAGTTCTTGGGG TCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTTTTCACCAGCA CAGTTCTCGGGGTCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCC TTTTCACCAGCAAAGTTCTCGGGGTCTGTCCTCCTTTTCACCAGCACAGT TCTCGGGGTCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTTTT CACCAGCACAGTTCTCGGGGTCTGTCCTTTTCACCAGCACAGTTCTCGGG GTCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTCCTTTTCACC AGTACAGTTCTCGGGGTCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCT GTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTTTTCACCAGCACAG TTCTCGGGGTCTGTCCTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCC TTTTCACCAGCACAGTTCTCGGGGTCTGTCCTCCTTTTCACCAGTACAGT TCTCGGGGTCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTCCT TTTCACCAGCACAGTTCTCGGGGTCTGTCCTCCTTTTCACCAGCACAGTT CTCGGGGTCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTTTTC ACCAGTACAGTTCTCGGGGTCTGTCCTTTTCACCAGCACAGTTCTCGGGG TCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTTTTCACCAGCA CAGTTCTCAAGGTCTGTCCT	TMEM163	ENSG00000152128.13	transcript	ENST00000281924.6	protein_coding	2/7			chr2	TogoVar
TOLLIP_chr11_1269371_1314632	1294621	C C	CGTGGCTC others(789): Show CGTGGCTCACGGTGTGTCTCCTTTCCCTGCATTTCTACGAAAGCCCGCGT GGCTCACGGTGTGTCTCCTTTCCCTGCATTTCTACGAAAGCCCGCGTGGC TCACGGTGTGTCTCCTTTCCCTGCATTTCTACGAAAGCCCGCGTGGCTCA CGGTGTGTCTCCTTTCCCTGCATTTCTACGAAAGCCCGCGTGGCTCACGG TGTGTCTCCTTTCCCTGCATTTCTATGAAAGCCCGCGTGGCTCAGTGTGT CTCCTTTCCCTGCATTTCTACGAAAGCCGCGTGGCTCACAGTGTGTCTCC TTTCCCTGCATTTCTACGAAAGCCCGCGTGGCTCACAGTGTGTCTCCTTT CCCTGCATTTCTACGAAAGCCCGCGTGGCTCACGGTGTGTCTCCTTTCCC TGCATTTCTACGAAAGCCCGCGTGGCTCACGGTGTGTCTCCTTTCCCTGC ATTTCTACGAAAGCCCGCGTGGCTCACGGTGTGTCTCCTTTCCCTGCATT TCTACGAAAGCCCGCGTGGCTCACGGTGTGTCTCCTTTTCCTGCATTTCT ACGAAAGCCCGCGTGGCTCACGGTGTGTCTCCTTTTCCTGCATTTCTACG AAAGCCCGCGTGGCTCACGGTGTGTCTCCTTTTCCTGCATTTCTACGAAA GCCCGGGTGGCTCACGGTGTGTCTCCTTTTCCTGCATTTCTACGAAAGCC CGCGTGGCTCACGGTGTGTCTCCTTTTCCTGCATTTCTACGAAAGCCCGC GTGGCTCACGGTGTGTCTCCTTTCCCTGCATTTCTACGAAAGCCCGG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0017 a0001c0009t0017	a0001c0009t0017g0083 a0001c0009t0017g0083	1	297	0.0034	796	c.183 others(813): Show c.183+1023_183+1024insCCGGGCTTTCGTAGAAATGCAGGGAAAG GAGACACACCGTGAGCCACGCGGGCTTTCGTAGAAATGCAGGAAAAGGAG ACACACCGTGAGCCACGCGGGCTTTCGTAGAAATGCAGGAAAAGGAGACA CACCGTGAGCCACCCGGGCTTTCGTAGAAATGCAGGAAAAGGAGACACAC CGTGAGCCACGCGGGCTTTCGTAGAAATGCAGGAAAAGGAGACACACCGT GAGCCACGCGGGCTTTCGTAGAAATGCAGGAAAAGGAGACACACCGTGAG CCACGCGGGCTTTCGTAGAAATGCAGGGAAAGGAGACACACCGTGAGCCA CGCGGGCTTTCGTAGAAATGCAGGGAAAGGAGACACACCGTGAGCCACGC GGGCTTTCGTAGAAATGCAGGGAAAGGAGACACACCGTGAGCCACGCGGG CTTTCGTAGAAATGCAGGGAAAGGAGACACACTGTGAGCCACGCGGGCTT TCGTAGAAATGCAGGGAAAGGAGACACACTGTGAGCCACGCGGCTTTCGT AGAAATGCAGGGAAAGGAGACACACTGAGCCACGCGGGCTTTCATAGAAA TGCAGGGAAAGGAGACACACCGTGAGCCACGCGGGCTTTCGTAGAAATGC AGGGAAAGGAGACACACCGTGAGCCACGCGGGCTTTCGTAGAAATGCAGG GAAAGGAGACACACCGTGAGCCACGCGGGCTTTCGTAGAAATGCAGGGAA AGGAGACACACCGTGAGCCACGCGGGCTTTCGTAGAAATGCAGGGAAAGG AGACACACCGTGAGCCAC	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	2/5			chr11	TogoVar
TP53AIP1_chr11_128930370_128947871	128930835	G G	GTTAGGGA others(789): Show GTTAGGGAGGCTGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGATT AGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGA GGCCGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGATTAGGGAGGC CGGGGTTAGGGAGGCCGGGGTTAGAGAGGCCAGGGGTTAGGGAGGCCAGG GTAGGGAGGCTGGGGGTTAGGAAGGCCGGGGTTAGGGAGACCAAGGGTCA GGGAGGCCAGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGGTTAGGG AGGCCGGGGTTAGGGAGGCCGGGGTTAGAGAGGCCAGGGGTTAGGGAGGC CAGGGGTTAGGGAGGCCAGGGTAGGGAGGCTGGGGGTTAGGAAGGCCGGG GTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGGTTAGGGAGGCCGGGGTT AGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGAGAGGCCAGGGGTTAGGG AGGCCAGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGC CGGGGTTAGGGAGGCCGGGGTTATGGAGGCAGGGATTATGGAGGCAGGGA TTAGGGAGGCAGGGATTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGG GAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGACCAAGGGTCAGGGAGG CCAGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGG GGTTAGGGAGGCAGGGATTATGGAGGCAGGGATTAGGGAGGCAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	362	0.0028	796	c.47 others(807): Show c.4755_*4756insTCCCTGCCTCCCTAATCCCTGCCTCCATAATCCC TGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCT CCCTAACCCCTGGCCTCCCTGACCCTTGGTCTCCCTAACCCCGGCCTCCC TAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAATC CCTGCCTCCCTAATCCCTGCCTCCATAATCCCTGCCTCCATAACCCCGGC CTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCC TAACCCCTGGCCTCCCTAACCCCTGGCCTCTCTAACCCCGGCCTCCCTAA CCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCTGGCCTCCCTGACCCT TGGTCTCCCTAACCCCGGCCTTCCTAACCCCCAGCCTCCCTACCCTGGCC TCCCTAACCCCTGGCCTCCCTAACCCCTGGCCTCTCTAACCCCGGCCTCC CTAACCCCGGCCTCCCTAACCCCCAGCCTCCCTAACCCCGGCCTCCCTAA CCCCTGGCCTCCCTGACCCTTGGTCTCCCTAACCCCGGCCTTCCTAACCC CCAGCCTCCCTACCCTGGCCTCCCTAACCCCTGGCCTCTCTAACCCCGGC CTCCCTAACCCCGGCCTCCCTAATCCCTGGCCTCCCTGACCCTTGGTCTC CCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAA CCCCGGCCTCCCTAATCCCTGGCCTCCCTGACCCTTGGTCTCCCTAACCC CAGCCTCCCTAA	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4534		chr11	TogoVar
TP53AIP1_chr11_128930370_128947871	128930835	G G	GTTAGGGA others(789): Show GTTAGGGAGGCTGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGATT AGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGACCAAGGGTCAGGG AGGCCAGGGATTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGC CGGGGTTAGAGAGGCCGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCAGG GATTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGTTA GGGAGACCAAGGGTCAGGGAGGCCAGGGATTAGGGAGGCCGGGGTTAGGG AGGCCGGGGTTAGAGAGGCCAGGGGTTAGGGAGGCCAGGGTAGGGAGGCT GGGGGTTAGGAAGGCCGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCAGG GGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTA GAGAGGCCAGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCTGGGGTTAGGG AGGCCAGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGC CGGGGTTAGGGAGGCCGGGGTTATGGAGGCAGGGATTATGGAGGCAGGGA TTAGGGAGGCAGGGATTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGG GAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGACCAAGGGTCAGGGAGG CCAGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGG GGTTAGGGAGGCAGGGATTATGGAGGCAGGGATTAGGGAGGCAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0007 a0002c0002t0001g0007	1	362	0.0028	796	c.47 others(807): Show c.4755_*4756insTCCCTGCCTCCCTAATCCCTGCCTCCATAATCCC TGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCT CCCTAACCCCTGGCCTCCCTGACCCTTGGTCTCCCTAACCCCGGCCTCCC TAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAATC CCTGCCTCCCTAATCCCTGCCTCCATAATCCCTGCCTCCATAACCCCGGC CTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCC TAACCCCTGGCCTCCCTAACCCCAGCCTCCCTAACCCCTGGCCTCCCTAA CCCCTGGCCTCTCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCC GGCCTCCCTAACCCCTGGCCTCCCTGACCCTTGGTCTCCCTAACCCCGGC CTTCCTAACCCCCAGCCTCCCTACCCTGGCCTCCCTAACCCCTGGCCTCT CTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAATCCCTGGCCTCCCTGA CCCTTGGTCTCCCTAACCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCC GGCCTCCCTAATCCCTGGCCTCCCTGACCCTTGGTCTCCCTAACCCCGGC CTCTCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCC TAATCCCTGGCCTCCCTGACCCTTGGTCTCCCTAACCCCAGCCTCCCTAA CCCCGGCCTCCCTAATCCCTGGCCTCCCTGACCCTTGGTCTCCCTAACCC CAGCCTCCCTAA	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4534		chr11	TogoVar
TRIM48_chr11_55257155_55276114	55273429	T T	TTATATAT others(789): Show TTATATATATATTATATATATATAAAAATTATATATATATTATATATATA TAAAAATTATATATATATTATATATATATAAAAATTATATATATATTATA TATATATAAAAATTATATATATATTATATATATATAAAAATTATATATAT ATTATATATATATAAAAATTATATATTATATATATATAAAAATTATATAT ATATTATATATATATAAAAATTATATATATATTATATATATATAAAAATT ATATATATATTATATATATATAAAAATTATATATATATTATATATATATA AAAATTATATATATATTATATATATATAAAAATTATATATATATTATATA TATATAAAAATTATATATATATTATATATATATAAAAATTATATATATAT TATATATATATAAAAATTATATATATATTATATATATATAAAAATTATAT ATATATTATATATATATAAAAATTATATATATATTATATATATATAAAAA TTATATATATATTATATATATATAAAAATTATATATATATTATATATATA TAAAAATTATATATATATTATATATATATAAAAATTATATATATATAATA TATATATATAAAAATTATATATATATATTATATATATATAAAAATTATAT ATATATATTATATATATATAAAAATTATATATATATATTATATATATATA AAAATTATATATATATATTATATATATATAAAAATTATATATATATATTA TATATATATAAAAATTATATATATATATTATATATATATAAAAATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	115	0.0087	796	c.29 others(807): Show c.2994_*2995insTATATATATATTATATATATATAAAAATTATATA TATATTATATATATATAAAAATTATATATATATTATATATATATAAAAAT TATATATATATTATATATATATAAAAATTATATATATATTATATATATAT AAAAATTATATATATATTATATATATATAAAAATTATATATTATATATAT ATAAAAATTATATATATATTATATATATATAAAAATTATATATATATTAT ATATATATAAAAATTATATATATATTATATATATATAAAAATTATATATA TATTATATATATATAAAAATTATATATATATTATATATATATAAAAATTA TATATATATTATATATATATAAAAATTATATATATATTATATATATATAA AAATTATATATATATTATATATATATAAAAATTATATATATATTATATAT ATATAAAAATTATATATATATTATATATATATAAAAATTATATATATATT ATATATATATAAAAATTATATATATATTATATATATATAAAAATTATATA TATATTATATATATATAAAAATTATATATATATTATATATATATAAAAAT TATATATATATAATATATATATATAAAAATTATATATATATATTATATAT ATATAAAAATTATATATATATATTATATATATATAAAAATTATATATATA TATTATATATATATAAAAATTATATATATATATTATATATATATAAAAAT TATATATATATATTATATATATATAAAAATTATATATATATATTATATAT ATATAAAAATTA	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2316		chr11	TogoVar
WNK3_chrX_54187823_54363046	54218652	G G	GGCAGGCA others(789): Show GGCAGGCAGATCACTTGAGGTCAGGAGTTCGAGATCAGCCTGGCCAACAT GGTGAAACCCTGCCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGG TGCGCGTCTGTAATCCCAGCTACCTGGGGGGCTGAGGCACGAGAATTGCT TGAACCCGGGAAGCGGAGGTTGCAGTGAGCCAAGATCACACGACTTCACA CCAGCCTGGGTAACAAAGTGAGACTCTGTCTCATAAATAAATTCACAAAA TGAGACTCTGTCTCATAAATAAATTGATAGATAGATAAAATAAAAAATAA AAAAATTTAAAAAAGTGAAAGAGCCTCACAGACCTGTTGGACACCATCAA GCATGACAAATATGCATAATAGGAGTTCCAAAAATAGAAGAGAAAAGGGC AGAAAAAATATCAGAATAAATAATAACTCCAAATTTCCAAAACTGAATGA CAAATATTAATTTACACATTCAAGAAGCTCAGTGAACTATAACTAAAGTA AATTTAATGAGATCCATACCTAGACACTCATAATCAAATTGATGAAAATC AAAGACAAAAAGAAAATCTTTAAAGAAGACAAAAAATAGACTTGTCATGT ATAAGGGACTTCAATAAAATTAAGAGCTGACTTCTCATTGGAAACCATAC AGGCCAAAAGACAATGGGATGACACTGTCAAAGTGTTGAAAGAGTAAGAC TATCAAAGAAGAATTCACCTAAATCTTTCAAAAATGAAGGAGACCCGGCC AGGCACGGTGGCTCACACCTGTAATCCCAGTACTTTGGGAGGCTGAA	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18959.hp1 NA18965.hp1 others(2): Show NA18955.hp1 NA18959.hp1 NA18965.hp1 NA18988.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0083 a0001c0001t0001g0084 others(2): Show a0001c0001t0001g0060 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0089 a0001c0001t0001g0095	5	154	0.0325	796	c.487 others(816): Show c.4870+9266_4870+10061dupTTCAGCCTCCCAAAGTACTGGGATT ACAGGTGTGAGCCACCGTGCCTGGCCGGGTCTCCTTCATTTTTGAAAGAT TTAGGTGAATTCTTCTTTGATAGTCTTACTCTTTCAACACTTTGACAGTG TCATCCCATTGTCTTTTGGCCTGTATGGTTTCCAATGAGAAGTCAGCTCT TAATTTTATTGAAGTCCCTTATACATGACAAGTCTATTTTTTGTCTTCTT TAAAGATTTTCTTTTTGTCTTTGATTTTCATCAATTTGATTATGAGTGTC TAGGTATGGATCTCATTAAATTTACTTTAGTTATAGTTCACTGAGCTTCT TGAATGTGTAAATTAATATTTGTCATTCAGTTTTGGAAATTTGGAGTTAT TATTTATTCTGATATTTTTTCTGCCCTTTTCTCTTCTATTTTTGGAACTC CTATTATGCATATTTGTCATGCTTGATGGTGTCCAACAGGTCTGTGAGGC TCTTTCACTTTTTTAAATTTTTTTATTTTTTATTTTATCTATCTATCAAT TTATTTATGAGACAGAGTCTCATTTTGTGAATTTATTTATGAGACAGAGT CTCACTTTGTTACCCAGGCTGGTGTGAAGTCGTGTGATCTTGGCTCACTG CAACCTCCGCTTCCCGGGTTCAAGCAATTCTCGTGCCTCAGCCCCCCAGG TAGCTGGGATTACAGACGCGCACCACCACACCCGGCTAATTTTTGTATTT TTAGTAGAGGCAGGGTTTCACCATGTTGGCCAGGCTGATCTCGAACTCCT GACCTCAAGTGATCTGCCTGC	WNK3	ENSG00000196632.12	transcript	ENST00000354646.7	protein_coding	22/23			chrX	TogoVar
ZBTB8A_chr1_32534427_32610941	32581182	T T	TTATATAT others(789): Show TTATATATAAATATATAACTATATTATAATATAGTTATAATATATAAATA TATATTATAACTATATTATAATATAGTTATAATATATAAATATATATTAT AACTATATTAAATATATAAATTATATAATATATATTATATATTGTATATT ATATAATTTATATAATATATTATATGTTATATAATATATATTATATATTG TATATATTATATTATATATTATATATTTTATATATCATATATAGTATGCT ATATAATATATATTTTTATATATTATATAGTATACTATATATTTTTATAT ATTATATAGTATACTATATAATATATATTTTTATATATTATATATAATAT ATATAATTATATATCATATATATTTATATAATATATGATATATAATATAT AATATATATTATGTATTATATAATTATATAAAATATATCATATATTATAT ATTATAAATAATATATATTATATTATATATTATAAATAATATATTATATA TTATATTATATATTATAAATAATATATTATATATTATATAATATATTATA AATAATATATTATATATTATATAATATATTATAAATAATATATTATATAT TATATAATATATTATAAATAATATATTATATATTATATAATATATTATAA ATAATATATTATATATTATATTATATATTATAAATAATATATTATATATT ATATTATATATTATAAATAATATATTATATATTATAAATAATATATTATA TATAATATGTTATATATTATAAATAATATATTATATATAATATGTTA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0091 a0001c0001t0091	a0001c0001t0091g0275 a0001c0001t0091g0275	1	44	0.0227	796	c.-1- others(813): Show c.-1-11744_-1-11743insATAAATATATAACTATATTATAATATAG TTATAATATATAAATATATATTATAACTATATTATAATATAGTTATAATA TATAAATATATATTATAACTATATTAAATATATAAATTATATAATATATA TTATATATTGTATATTATATAATTTATATAATATATTATATGTTATATAA TATATATTATATATTGTATATATTATATTATATATTATATATTTTATATA TCATATATAGTATGCTATATAATATATATTTTTATATATTATATAGTATA CTATATATTTTTATATATTATATAGTATACTATATAATATATATTTTTAT ATATTATATATAATATATATAATTATATATCATATATATTTATATAATAT ATGATATATAATATATAATATATATTATGTATTATATAATTATATAAAAT ATATCATATATTATATATTATAAATAATATATATTATATTATATATTATA AATAATATATTATATATTATATTATATATTATAAATAATATATTATATAT TATATAATATATTATAAATAATATATTATATATTATATAATATATTATAA ATAATATATTATATATTATATAATATATTATAAATAATATATTATATATT ATATAATATATTATAAATAATATATTATATATTATATTATATATTATAAA TAATATATTATATATTATATTATATATTATAAATAATATATTATATATTA TAAATAATATATTATATATAATATGTTATATATTATAAATAATATATTAT ATATAATATGTTATATAT	ZBTB8A	ENSG00000160062.15	transcript	ENST00000373510.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZNF627_chr19_11592483_11624161	11613145	C C	CCCTCCCC others(789): Show CCCTCCCCTCCTTCCCCCCTCCCCTCCCCTCCTTCCCCCCTCCCCTCCCC TCCTTCCCCCCTCCCCTCCCCTCCTTCCCCCCTCCCCTCCCCCTTCCTCA TCCCCTTCCCCCTCCCCTTCTTCCTCTCCTCCTCCCTCCCCCCCTCCCCT TCCCTCCTCCCTCCCCCCTCCCCTCCCCCTTCTTCCTCCCCTTCCCCCTC CCCTCCCCCTTCCTCCTCCCCTTCCTCCTCTCCTCCTCCCTCCCCCTCCC CTCCCCCTTCCCTCCTCCCTCCCCCCTCCCCTCCCCCTTCCTCCTCCCCT TCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCCCTTCCCCTTCCTCCTC TCCTCCTCCCTCCCCTCCCCCCTCCCTCCCCTCCCCCTTCCCTCCTCCCT CCCCTCCCCCTTCCCTCCTTCCTCCCCTCCCCCTCCCCTACCCTCCTCCC TCCCCTTCCCTCCTCCCTCCCCCTCCCCGTCCCCTCCTCCTCCCCCTCCC CTCCCCCTCCCCTCCCCCTCCCCCTCCTCCCTCCCCCTCCCCTCCTCCCT CCCCTCCCCTCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCTCCTCCCCCT CCTCTTCCCCTCTCCTCCCCTCCCCCCATCCCCCTCCTCCCCTCTCCCCT CCCCTCCCCTTCCCTTCCCCTCTCCTCCCCTCCTCCCTCCCCTCCCCATC TTCCCTCCCCTCCCCATCTTCCCTCCCCTCTACTCCCGTCACCTGTCCCT CCCCTCTCCTCCCCTCACCTGTCCCTCCCCTCTCCCCTTCCCCCTCA	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0049 a0001c0001t0002g0049	1	9	0.1111	796	c.4-1 others(809): Show c.4-1376_4-1375insCTCCTTCCCCCCTCCCCTCCCCTCCTTCCCCC CTCCCCTCCCCTCCTTCCCCCCTCCCCTCCCCTCCTTCCCCCCTCCCCTC CCCCTTCCTCATCCCCTTCCCCCTCCCCTTCTTCCTCTCCTCCTCCCTCC CCCCCTCCCCTTCCCTCCTCCCTCCCCCCTCCCCTCCCCCTTCTTCCTCC CCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCTCCTCTCCTCCTCC CTCCCCCTCCCCTCCCCCTTCCCTCCTCCCTCCCCCCTCCCCTCCCCCTT CCTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCCCTTCC CCTTCCTCCTCTCCTCCTCCCTCCCCTCCCCCCTCCCTCCCCTCCCCCTT CCCTCCTCCCTCCCCTCCCCCTTCCCTCCTTCCTCCCCTCCCCCTCCCCT ACCCTCCTCCCTCCCCTTCCCTCCTCCCTCCCCCTCCCCGTCCCCTCCTC CTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCTCCCTCCCCCTC CCCTCCTCCCTCCCCTCCCCTCTCCCCTCCCCCTCCCCTCCCCTCCCCCT CTCCTCCCCCTCCTCTTCCCCTCTCCTCCCCTCCCCCCATCCCCCTCCTC CCCTCTCCCCTCCCCTCCCCTTCCCTTCCCCTCTCCTCCCCTCCTCCCTC CCCTCCCCATCTTCCCTCCCCTCCCCATCTTCCCTCCCCTCTACTCCCGT CACCTGTCCCTCCCCTCTCCTCCCCTCACCTGTCCCTCCCCTCTCCCCTT CCCCCTCACCTCCC	ZNF627	ENSG00000198551.10	transcript	ENST00000361113.10	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
ADAMTS3_chr4_72275969_72574221	72456223	A A	AGTATGTA others(790): Show AGTATGTACTCTATATATTTTATATATAGTATGTACTCTATATATTTTAT ATATAGTATGTACTATATATTTTATATATAGTATGTACTATATATTTTAT ATATAGTATGTACTATATATATTTTATATATAGTATGTACTATATATATT TTATATATAGTATGTACATTGTATATACTATATATATATTTTATGTATAG TATGTACTATATATATTTTATGTATAGTATGTACATTGTATATACTATAT ATATATTTTATGTATAGTATGTACTATATATATTTTATGTATAGTATATA TACTGTATGTACTATATATATTTTATGTATAGTATATATACTGTATGTAC TATATATATTTTATGTATAGTATATATACTGTATGTACTATATATATTTT ATGTATAGTATATATACTGTATGTACTATATATATTTTATGTATAGTATA TATACTGTATGTACTATATATATTTTATGTATAGTATATATACTGTATGT ACTATATATATTTTATGTATAGTATATATACTGTATGTACTATATATATT TTATGTATAGTATATATACTGTATGTACTATATATATTTTATGTATAGTA TATATACTGTATGTACTATATATATTTTATGTATAGTATATATACTGTAT GTACTATATATATTTTATGTATAGTATATATACTGTATGTACTATATATA TTTTATGTATAGTATATATACTGTATGTACTATATATATTTTATGTATAG TATATATACTGTATGTACTATATATATTTTATGTATAGTATATATACT	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0164 a0002c0002t0001g0164	1	159	0.0063	797	c.505 others(816): Show c.505-41253_505-41252insAGTATATATACTATACATAAAATATA TATAGTACATACAGTATATATACTATACATAAAATATATATAGTACATAC AGTATATATACTATACATAAAATATATATAGTACATACAGTATATATACT ATACATAAAATATATATAGTACATACAGTATATATACTATACATAAAATA TATATAGTACATACAGTATATATACTATACATAAAATATATATAGTACAT ACAGTATATATACTATACATAAAATATATATAGTACATACAGTATATATA CTATACATAAAATATATATAGTACATACAGTATATATACTATACATAAAA TATATATAGTACATACAGTATATATACTATACATAAAATATATATAGTAC ATACAGTATATATACTATACATAAAATATATATAGTACATACAGTATATA TACTATACATAAAATATATATAGTACATACAGTATATATACTATACATAA AATATATATAGTACATACAGTATATATACTATACATAAAATATATATAGT ACATACTATACATAAAATATATATATAGTATATACAATGTACATACTATA CATAAAATATATATAGTACATACTATACATAAAATATATATATAGTATAT ACAATGTACATACTATATATAAAATATATATAGTACATACTATATATAAA ATATATATAGTACATACTATATATAAAATATATAGTACATACTATATATA AAATATATAGTACATACTATATATAAAATATATAGAGTACATACTATATA TAAAATATATAGAGTACATAC	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	3/21			chr4	TogoVar
C2CD4C_chr19_400445_414147	404709	A A	ACGGGGTC others(790): Show ACGGGGTCCTGCCCTGAGAGGTGTGAGGGGGGACGGGGTCCTGCCCTGAG GGGTGTGAGGGGGGGACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGAACG GGGTCCTGCCCTGAGGGGTGTGGGGGGGACGGGGTCCTGCCCTGAGGGGT GAGGGGGGGACGGGGTCCTGCCCTGAGGGGTGAGGGGGGGACGGGGTCCT GCCCCGAGGGGTGTGGAGGGGGGATGGGGTCCTGCCCCGAGGGGTCTGAG GGGGGGACGGGTCCTGCCCCGAGGGGTGTGGAGGGGGGACGGGGTCCTGC CCTGAGAGGTGTGAGGGGGGACGGGGTCCTGCCCTGAGGGGTGTGAGGGG GGGACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGAACGGGGTCCTGCCCT GAGGGGTGTGGGGGGGACGGGGTCCTGCCCTGAGGGGTGAGGGGGGGACG GGGTCCTGCCCTGAGGGGTGTGGGGGGGACGGGGTCCTGCCCTGAGGGGT GAGGGGGGGACGGGGTCCTGCCCTGAGGGGTGTGGGGGGAACGGGGTCCT GCCCTGAGGGGTGTGGGGGGGACGGGGTCCTGCCCTGAGGGGTGTGAGGG GGGAACGGGGTCCTGCCCTGAGGGGTGTGGAGGGGGGACGGGGTCCTGCC CTGAGGGGTGAGGGGGGGACGGGGTCCTGCCCTGAGGGGTGTGAGGGGGG GACGGGGTCCTGCCCTGAGGGGTGTGAGGGGGGGACGGGGTCCTGCCCTG AGGGGTGTGGGGGGGACGGGGTCCTGCCCTGAGGGGTGTGAGGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0091 a0001c0004t0091	a0001c0004t0091g0052 a0001c0004t0091g0052	1	217	0.0046	797	c.23 others(808): Show c.2386_*2387insCCCCCCCTCACACCCCTCAGGGCAGGACCCCGTC CCCCCCACACCCCTCAGGGCAGGACCCCGTCCCCCCCTCACACCCCTCAG GGCAGGACCCCGTCCCCCCCTCACACCCCTCAGGGCAGGACCCCGTCCCC CCCTCACCCCTCAGGGCAGGACCCCGTCCCCCCTCCACACCCCTCAGGGC AGGACCCCGTTCCCCCCTCACACCCCTCAGGGCAGGACCCCGTCCCCCCC ACACCCCTCAGGGCAGGACCCCGTTCCCCCCACACCCCTCAGGGCAGGAC CCCGTCCCCCCCTCACCCCTCAGGGCAGGACCCCGTCCCCCCCACACCCC TCAGGGCAGGACCCCGTCCCCCCCTCACCCCTCAGGGCAGGACCCCGTCC CCCCCACACCCCTCAGGGCAGGACCCCGTTCCCCCCCACACCCCTCAGGG CAGGACCCCGTCCCCCCCTCACACCCCTCAGGGCAGGACCCCGTCCCCCC TCACACCTCTCAGGGCAGGACCCCGTCCCCCCTCCACACCCCTCGGGGCA GGACCCGTCCCCCCCTCAGACCCCTCGGGGCAGGACCCCATCCCCCCTCC ACACCCCTCGGGGCAGGACCCCGTCCCCCCCTCACCCCTCAGGGCAGGAC CCCGTCCCCCCCTCACCCCTCAGGGCAGGACCCCGTCCCCCCCACACCCC TCAGGGCAGGACCCCGTTCCCCCCCACACCCCTCAGGGCAGGACCCCGTC CCCCCCTCACACCCCTCAGGGCAGGACCCCGTCCCCCCTCACACCTCTCA GGGCAGGACCCCG	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		735		chr19	TogoVar
C4orf50_chr4_5954375_6023431	6004288	G G	GGTGATGG others(790): Show GGTGATGGTGGTGATGATGTGATGGTAATGGTGATGATGGTGATGGTGAT GATGTGGTGGTGATGGTGATGGTGACTGTGATGGTGATGGTGATGATGGT GATGGTGATGATGGTGATGATGGTGATGGTGATGATGTGATGGTGATGTT GATGATGGTGGTGATGGTGATGATGTGATGGCGATGATAGTGATGATGGT GATGATGGTGATGGTGATGATGTGATAGTGATGATGGTGATGATGCTGAT GGTGATGATGGTGATGGTGATGATGGTGATAGTGATGATGGTGATGGTGA TGATGGTGATGATGGTGATGATGGTGATGGTGATTATGGTGATGATGGGA TGGTGATGTTGATGATGGTGGTGATGGTGATGATGTGATGGCGATGATAG TGATGATGGTGATGATGGTGATGGTGATGATGTGATGGTGATGATAGTGA TGATGGTGATGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATG GTGATGATAGTGATGATGGTGATGATGGTGATGGTGATGATGGTGATGGT GATGATGGTGATGATGGTGATGATGGTGACGGTGATGATGTGATGGTGAT GATGGTGATGATGGTGATGGTGATGGTGATGATGGTGATGATGTTGATGA TGGTGATGATGGTGATGGTGATGATGGTGATGATGTGATGGTGATGATGT TGATGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGATGGTG ATGATGTTGATGATGGTGATGATGGTGATGATGGTGATGGTGATGATA	intron_variant intron_variant	MODIFIER	HG00639.hp1 NA19007.hp1 HG00639.hp1 NA19007.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0178 a0002c0002t0001g0313 a0002c0002t0001g0178 a0002c0002t0001g0313	2	286	0.0070	797	c.963 others(814): Show c.963+3707_963+3708insTATCATCACCATCACCATCATCACCATC ATCACCATCATCAACATCATCACCATCATCACCATCACCATCATCACCAT CACCATCATCACCATCATCAACATCATCACCATCACATCATCACCATCAT CACCATCACCATCATCACCATCATCAACATCATCACCATCATCACCATCA CCATCACCATCATCACCATCATCACCATCACATCATCACCGTCACCATCA TCACCATCATCACCATCATCACCATCACCATCATCACCATCACCATCATC ACCATCATCACTATCATCACCATCACCATCACCATCATCACCATCACCAT CATCACCATCATCACCATCATCACTATCATCACCATCACATCATCACCAT CACCATCATCACCATCATCACTATCATCGCCATCACATCATCACCATCAC CACCATCATCAACATCACCATCCCATCATCACCATAATCACCATCACCAT CATCACCATCATCACCATCATCACCATCACCATCATCACTATCACCATCA TCACCATCACCATCATCACCATCAGCATCATCACCATCATCACTATCACA TCATCACCATCACCATCATCACCATCATCACTATCATCGCCATCACATCA TCACCATCACCACCATCATCAACATCACCATCACATCATCACCATCACCA TCATCACCATCATCACCATCACCATCATCACCATCACCATCACAGTCACC ATCACCATCACCACCACATCATCACCATCACCATCATCACCATTACCATC ACATCATCACCACCATCAC	C4orf50	ENSG00000181215.17	transcript	ENST00000711657.1	protein_coding	3/11			chr4	TogoVar
C4orf50_chr4_5954375_6023431	6004348	A A	ATGTGGTG others(790): Show ATGTGGTGGTGATGGTGATGGTGACTGTGATGGTGATGGTGATGATGGTG ATGGTGATGATGGTGATGATGGTGATGGTGATGATGTGATGGTGATGTTG ATGATGGTGGTGATGGTGATGATGTGATGGCGATGATAGTGATGATGGTG ATGATGGTGATGGTGATGATGTGATAGTGATGATGGTGATGATGCTGATG GTGATGATGGTGATGGTGATGATGGTGATAGTGATGATGGTGATGGTGAT GATGGTGATGATGGTGATGATGGTGATGGTGATTATGGTGATGATGGGAT GGTGATGTTGATGATGGTGGTGATGGTGATGATGTGATGGCGATGATAGT GATGATGGTGATGATGGTGATGGTGATGATGTGATGGTGATGATAGTGAT GATAGTGATGATGGTGATGATGGTGATGATGGTGATGGTGATGATGGTGA TGGTGATGGTGATGATAGTGATGATGGTGATGATGGTGATGGTGATGATG GTGATGGTGATGATGGTGATGATGGTGATGATGGTGACGGTGATGATGTG ATGGTGATGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGAT GGTGATGATGTTGATGATGGTGATGATGGTGATGGTGATGATGGTGATGA TGTGATGGTGATGATGTTGATGATGGTGATGATGGTGATGGTGATGATGG TGATGATGTTGATGATGGTGATGATGGTGATGATGGTGATGGTGATGATA GTGATGATGGTGATGATGGTGATGGTGATGATGCTGATGGTGATGATG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0069 a0069	a0069c0111 a0069c0111	a0069c0111t0001 a0069c0111t0001	a0069c0111t0001g0094 a0069c0111t0001g0094	1	77	0.0130	797	c.963 others(814): Show c.963+3647_963+3648insCATCATCACCATCAGCATCATCACCATC ACCATCATCACCATCATCACTATCATCACCATCACCATCATCACCATCAT CACCATCATCAACATCATCACCATCATCACCATCACCATCATCACCATCA TCAACATCATCACCATCACATCATCACCATCATCACCATCACCATCATCA CCATCATCAACATCATCACCATCATCACCATCACCATCATCACCATCACC ATCATCACCATCATCACCATCACATCATCACCGTCACCATCATCACCATC ATCACCATCATCACCATCACCATCATCACCATCACCATCATCACCATCAT CACTATCATCACCATCACCATCACCATCATCACCATCACCATCATCACCA TCATCACCATCATCACTATCATCACTATCATCACCATCACATCATCACCA TCACCATCATCACCATCATCACTATCATCGCCATCACATCATCACCATCA CCACCATCATCAACATCACCATCCCATCATCACCATAATCACCATCACCA TCATCACCATCATCACCATCATCACCATCACCATCATCACTATCACCATC ATCACCATCACCATCATCACCATCAGCATCATCACCATCATCACTATCAC ATCATCACCATCACCATCATCACCATCATCACTATCATCGCCATCACATC ATCACCATCACCACCATCATCAACATCACCATCACATCATCACCATCACC ATCATCACCATCATCACCATCACCATCATCACCATCACCATCACAGTCAC CATCACCATCACCACCACA	C4orf50	ENSG00000181215.17	transcript	ENST00000711657.1	protein_coding	3/11			chr4	TogoVar
C4orf50_chr4_5954375_6023431	6004599	A A	ATGATGGT others(790): Show ATGATGGTGACGGTGATGATGTGATGGTGATGATGGTGATGATGGTGATG GTGATGATGGTGATGATGTTGATGATGGTGATGATGGTGATGATGGTGAT GATAGTGATGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGA TGTGATGGTGATGATGATGGTGATGGTGATGATGGTGATGGTGATGATGG TGATGGTGGTGATGATGATGGTGATGTGATGGTAATGGTGATGATGGTGA TGGTGATGATGATGTGGTGGTGATGGTGATGCTGATGATGGTGATGATGG TGATGGTGATGATAGTGATGATGGTGATGATGGTGATGGTGATGATGGTG ATGGTGATGATGGTGATGATATTGATGGTGATGATATTGATGGTGATGAT GGTGATGGTGATGATGTGATGGTGATGATGGTGATGATGGTGATAGTTAT GATGGTGATGGTGATGATGTTGATGATGGTGATGATGGTGATGATGGTGA TGGTGATGATGTGATGGTGATGATAGTGATGATGGTGATGATGGTGATGG TGATGATGGTGATGGTGATGGTGATGATGGTGATGATGGTGATGGTGATG ATGGTGATGGTGATGATGGTGATGATGGTGATGATGGTGATGATGGTGAT GATGGTGATGGTGATGATGGTGATGGTGATGATGACGGTGATGGTGATGA TGGTGATGGTGATGATGGTGATGGTGATGGAGATGGAGATGTTGGTGATG ATGGTGATGGTGGTGATGATGTGATGGTAATGGTGATGATGGTGATGG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0228	1	196	0.0051	797	c.963 others(814): Show c.963+3396_963+3397insCCATCACCATCATCACCATTACCATCAC ATCATCACCACCATCACCATCATCACCAACATCTCCATCTCCATCACCAT CACCATCATCACCATCACCATCATCACCATCACCGTCATCATCACCATCA CCATCATCACCATCACCATCATCACCATCATCACCATCATCACCATCATC ACCATCATCACCATCACCATCATCACCATCACCATCATCACCATCATCAC CATCACCATCACCATCATCACCATCACCATCATCACCATCATCACTATCA TCACCATCACATCATCACCATCACCATCATCACCATCATCACCATCATCA ACATCATCACCATCACCATCATAACTATCACCATCATCACCATCATCACC ATCACATCATCACCATCACCATCATCACCATCAATATCATCACCATCAAT ATCATCACCATCATCACCATCACCATCATCACCATCACCATCATCACCAT CATCACTATCATCACCATCACCATCATCACCATCATCAGCATCACCATCA CCACCACATCATCATCACCATCACCATCATCACCATTACCATCACATCAC CATCATCATCACCACCATCACCATCATCACCATCACCATCATCACCATCA CCATCATCATCACCATCACATCATCACCATCACCATCATCACCATCACCA TCATCACCATCATCACTATCATCACCATCATCACCATCATCACCATCATC AACATCATCACCATCATCACCATCACCATCATCACCATCATCACCATCAC ATCATCACCGTCACCATCA	C4orf50	ENSG00000181215.17	transcript	ENST00000711657.1	protein_coding	3/11			chr4	TogoVar
C4orf50_chr4_5954375_6023431	6004599	A A	ATGATGGT others(790): Show ATGATGGTGACGGTGATGATGTGATGGTGATGATGGTGATGATGGTGATG GTGATGATGGTGATGATGTTGATGATGGTGATGATGGTGATGATGGTGAT GGTGATGATAGTGATGATGGTGATGATGGTGATGGTGATGATGGTGATGG TGATGATGTGATGGTGATGATGATGGTGATGGTGATGATGGTGATGGTGA TGATGGTGATGGTGGTGATGATGATGGTGATGTGATGGTAATGGTGATGA TGGTGATGGTGATGATGATGTGGTGGTGATGGTGATGCTGATGATGGTGA TGATGGTGATGGTGATGATAGTGATGATGGTGATGATGGTGATGGTGATG ATGGTGATGGTGATGATGGTGATGATATTGATGGTGATGATATTGATGGT GATGATGGTGATGGTGATGATGTGATGGTGATGATGGTGATGATGGTGAT AGTTATGATGGTGATGGTGATGATGTTGATGATGGTGATGATGGTGATGA TGGTGATGGTGATGATGTGATGGTGATGATAGTGATGATGGTGATGATGG TGATGGTGATGATGGTGATGGTGATGGTGATGATGGTGATGATGGTGATG GTGATGATGGTGATGGTGATGATAGTGATGATGGTGATGATGGTGATGGT GATGATGGTGATTGTGATGATGGTGATGGTGATGATGACGGTGATGGTGA TGATGGTGATGGTGATGATGGTGATGGTGGTGATGGAGATGTTGGTGATG ATGGTGATGGTGGTGATGATGTGATGGTAATGGTGATGATGGTGATGG	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01891.hp2 HG02818.hp2 others(2): Show HG01257.hp2 HG01891.hp2 HG02818.hp2 HG03209.hp1 NA18906.hp2	a0009 a0021 a0039 others(1): Show a0009 a0021 a0039 a0079	a0009c0010 a0021c0050 a0039c0025 others(1): Show a0009c0010 a0021c0050 a0039c0025 a0079c0079	a0009c0010t0001 a0021c0050t0001 a0039c0025t0001 others(1): Show a0009c0010t0001 a0021c0050t0001 a0039c0025t0001 a0079c0079t0001	a0009c0010t0001g0267 a0009c0010t0001g0280 a0021c0050t0001g0064 others(2): Show a0009c0010t0001g0267 a0009c0010t0001g0280 a0021c0050t0001g0064 a0039c0025t0001g0065 a0079c0079t0001g0028	5	200	0.0250	797	c.963 others(814): Show c.963+3396_963+3397insCCATCACCATCATCACCATTACCATCAC ATCATCACCACCATCACCATCATCACCAACATCTCCATCACCACCATCAC CATCATCACCATCACCATCATCACCATCACCGTCATCATCACCATCACCA TCATCACAATCACCATCATCACCATCACCATCATCACCATCATCACTATC ATCACCATCACCATCATCACCATCACCATCATCACCATCATCACCATCAC CATCACCATCATCACCATCACCATCATCACCATCATCACTATCATCACCA TCACATCATCACCATCACCATCATCACCATCATCACCATCATCAACATCA TCACCATCACCATCATAACTATCACCATCATCACCATCATCACCATCACA TCATCACCATCACCATCATCACCATCAATATCATCACCATCAATATCATC ACCATCATCACCATCACCATCATCACCATCACCATCATCACCATCATCAC TATCATCACCATCACCATCATCACCATCATCAGCATCACCATCACCACCA CATCATCATCACCATCACCATCATCACCATTACCATCACATCACCATCAT CATCACCACCATCACCATCATCACCATCACCATCATCACCATCACCATCA TCATCACCATCACATCATCACCATCACCATCATCACCATCACCATCATCA CCATCATCACTATCATCACCATCACCATCATCACCATCATCACCATCATC AACATCATCACCATCATCACCATCACCATCATCACCATCATCACCATCAC ATCATCACCGTCACCATCA	C4orf50	ENSG00000181215.17	transcript	ENST00000711657.1	protein_coding	3/11			chr4	TogoVar
CAPN11_chr6_44153820_44189401	44181617	A A	ACACACAC others(790): Show ACACACACACACACTCACATACAGACACAACCACACCACACTCACACACA CACACACACTCACATACAGACACAACCACACCACACTCACACATACACAC TCACATACAGACACAACCACACCACACTCACACACACACATACACACTCA CATACAGACACAACCACACCACACTCACACACACACACTCACATACAGAC ACAACCACACCACACTCTCACACACACACTCACATACAGACACAACCACA CCACACCACACACACACACACTCACATACAGACACAACCACACCACACTC ACACACACACACTCACATACAGACACAACCACACCACACACACACACTCA CATACAGACACAACCACACCACACTCACACATACACACTCACATACAGAC ACAACCACACCACACTCACACACACACACTCACATACAGACACAACCACA CCACACTCACACACACACACTCACATACAGACACAACCACACCACACTCA CACACACACACACAGACACAACCACACCACACTCACACACACACACTCAC ATACAGACACAACCACACCACACACACACACACAGACACAACCACACCAC ACACACACCCAACCACACCACACTCACACACACACACACTCACATACAGA CACAACCACACCACACACACACATACACACTCACATACAGACACAACCAC ACCACACACACACACACATACACACTCACATACAGACACAACCACACCAC ACTCACACACACATACACACTCACATACAGACACAACCACACCACACT	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	1	436	0.0023	797	c.193 others(814): Show c.1938+307_1938+308insCACTCACATACAGACACAACCACACCAC ACTCACACACACACACACACTCACATACAGACACAACCACACCACACTCA CACATACACACTCACATACAGACACAACCACACCACACTCACACACACAC ATACACACTCACATACAGACACAACCACACCACACTCACACACACACACT CACATACAGACACAACCACACCACACTCTCACACACACACTCACATACAG ACACAACCACACCACACCACACACACACACACTCACATACAGACACAACC ACACCACACTCACACACACACACTCACATACAGACACAACCACACCACAC ACACACACTCACATACAGACACAACCACACCACACTCACACATACACACT CACATACAGACACAACCACACCACACTCACACACACACACTCACATACAG ACACAACCACACCACACTCACACACACACACTCACATACAGACACAACCA CACCACACTCACACACACACACACAGACACAACCACACCACACTCACACA CACACACTCACATACAGACACAACCACACCACACACACACACACAGACAC AACCACACCACACACACACCCAACCACACCACACTCACACACACACACAC TCACATACAGACACAACCACACCACACACACACATACACACTCACATACA GACACAACCACACCACACACACACACACATACACACTCACATACAGACAC AACCACACCACACTCACACACACATACACACTCACATACAGACACAACCA CACCACACTCACACACACA	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN11_chr6_44153820_44189401	44181824	C C	CCACACTC others(790): Show CCACACTCACACACACACACACACTCACATACAGACACAACCACACCACA CTCACACACACACACACACACTCACATACAGACACAACCACACCACACAC ACACACACACACATACAGACACAACCACACCACACACACACATACACACT CACATACAGACAACCACACCACACTCACACACACACATACACACTCACAT ACAGACACAACCACACCACACTCACACACACACATACACACTCACATACA GACACAACCACACCACACACACACACACATACAGACACAACCACACCACA CACACACACATACACACTCACATACAGACACAACCACACCACACTCACAC ACACACACGCTCACATACAGACACAACCACACCACACTCACACACACACA CTCACATACAGACACAACCACACCACACCACACACACACACACTCACATA CAGACACAACCACACCACACTCACACACACACACACTCACATACAGACAC AACCACACCACACACACACACACTCACATACAGACACAACCACACCACAC TCACACATACACACATACAGACACAACCACACCACACTCACACACACACA CACATACAGACACAACCACACCACACTCACACACACACACTCACATACAG ACACAACCACACCACACTCACACACACACACAGACACAACCACACCACAC ACACACACACACTCACATACAGACACAACCACACCACACACACACACACA CAGACACAACCACACCACACACACACACCCAACCACACCACACTCACA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0037 a0001c0001t0003g0037	1	265	0.0038	797	c.193 others(814): Show c.1938+509_1938+510insTCACACACACACACACACTCACATACAG ACACAACCACACCACACTCACACACACACACACACACTCACATACAGACA CAACCACACCACACACACACACACACACATACAGACACAACCACACCACA CACACACATACACACTCACATACAGACAACCACACCACACTCACACACAC ACATACACACTCACATACAGACACAACCACACCACACTCACACACACACA TACACACTCACATACAGACACAACCACACCACACACACACACACATACAG ACACAACCACACCACACACACACACATACACACTCACATACAGACACAAC CACACCACACTCACACACACACACGCTCACATACAGACACAACCACACCA CACTCACACACACACACTCACATACAGACACAACCACACCACACCACACA CACACACACTCACATACAGACACAACCACACCACACTCACACACACACAC ACTCACATACAGACACAACCACACCACACACACACACACTCACATACAGA CACAACCACACCACACTCACACATACACACATACAGACACAACCACACCA CACTCACACACACACACACATACAGACACAACCACACCACACTCACACAC ACACACTCACATACAGACACAACCACACCACACTCACACACACACACAGA CACAACCACACCACACACACACACACACTCACATACAGACACAACCACAC CACACACACACACACACAGACACAACCACACCACACACACACACCCAACC ACACCACACTCACACACAC	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN11_chr6_44153820_44189401	44181824	C C	CCACACTC others(790): Show CCACACTCACACACACATACACACTCACATACAGACACAACCACACCACA CTCACACACACACACACACACTCACATACAGACACAACCACACCACACAC ACACACACACACATACAGACACAACCACACCACACACACACATACACACT CACATACAGACAACCACACCACACTCACACACACACATACACACTCACAT ACAGACACAACCACACCACACTCACACACACACATACACACTCACATACA GACACAACCACACCACACACACACACACATACAGACACAACCACACCACA CACACACACACATACACACTCACATACAGACACAACCACACCACACTCAC ACACACACACGCTCACATACAGACACAACCACACCACACTCACACACACA CACTCACATACAGACACAACCACACCACACCACACACACACACACTCACA TACAGACACAACCACACCACACTCACACACACACACACTCACATACAGAC ACAACCACACCACACACACACACACTCACATACAGACACAACCACACCAC ACTCACACATACACACATACAGACACAACCACACCACACTCACACACACA CACACATACAGACACAACCACACCACACTCACACACACACACATACAGAC ACAACCACACCACACTCACACACACACACAGACACAACCACACCACACAC ACACACACACTCACATACAGACACAACCACACCACACACACACACACACA GACACAACCACACCACACACACACACCCAACCACACCACACTCACACA	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0009 a0001c0001t0003g0009	1	265	0.0038	797	c.193 others(814): Show c.1938+509_1938+510insTCACACACACATACACACTCACATACAG ACACAACCACACCACACTCACACACACACACACACACTCACATACAGACA CAACCACACCACACACACACACACACACATACAGACACAACCACACCACA CACACACATACACACTCACATACAGACAACCACACCACACTCACACACAC ACATACACACTCACATACAGACACAACCACACCACACTCACACACACACA TACACACTCACATACAGACACAACCACACCACACACACACACACATACAG ACACAACCACACCACACACACACACACATACACACTCACATACAGACACA ACCACACCACACTCACACACACACACGCTCACATACAGACACAACCACAC CACACTCACACACACACACTCACATACAGACACAACCACACCACACCACA CACACACACACTCACATACAGACACAACCACACCACACTCACACACACAC ACACTCACATACAGACACAACCACACCACACACACACACACTCACATACA GACACAACCACACCACACTCACACATACACACATACAGACACAACCACAC CACACTCACACACACACACACATACAGACACAACCACACCACACTCACAC ACACACACATACAGACACAACCACACCACACTCACACACACACACAGACA CAACCACACCACACACACACACACACTCACATACAGACACAACCACACCA CACACACACACACACAGACACAACCACACCACACACACACACCCAACCAC ACCACACTCACACACACAC	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CCBE1_chr18_59425939_59702423	59473808	C C	CACTATTT others(790): Show CACTATTTCCTCCCCTGCTACTCACCTTCCAACCCTATTTCCTCCCCCAC TACTCACCTTCCAACCCTATTTCCTCCCCCACTACTCACCTTCCAACCCT CCCACTATTTCCTCCCCCCACTACTCACCTTCCAACCTTCCCACTATTTC CCCCCTACTACTCACCTTCCAACCCTCCCACTATTTCCCCCGACTACTCA CCTTCCAACCTTCCCACTATTTCCTCCCCCTACTACTCACCTTCCAACCC TCCCACTATTTCCTCCCCCACTACTCACCTTCCAACCCTCCCACTATTTC CTCCCCCCACTACTCACCTTCCAACCTTCCCACTATTTCCCCCCTACTAC TCACCTTCCAACCCTCCCACTATTTCCCCCCGACTACTCACCATCCAACC CTTCCACTATTTCCCCCCCACTACTCACCATCCAACCCTCCCACTATGTC CTCTCCCACTACTCACCTTCCAACCCTCCTATTCCCCCCACTACTACTCA CCATCCAACCCTCCCAGTACTCACCTTCCAACCCTCCCACTATCCCCCCC TACTACTCACCTTCCAACCCTTCCACTATTTCCCCACTACTACTCACCTT CCAACCCTCCCACTATTTCCTCCCTCCAACTACTCACCTTCCAACCCTCC TACTATTCCCCCGCTACTACTCACCTTCCAACCCTCCCACTATTCCCCCA CTACTGCCCACCTTCCAACCCTCCCACTATTCCCCCGCTACTACCTACCT TCCAACCCTCCCACTATTTCCTCCCACCACTCACCTTCCAACCCTCCT	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0157 a0001c0003t0001g0157	1	2	0.5000	797	c.266 others(814): Show c.266-4202_266-4201insAGGAGGGTTGGAAGGTGAGTGGTGGGAG GAAATAGTGGGAGGGTTGGAAGGTAGGTAGTAGCGGGGGAATAGTGGGAG GGTTGGAAGGTGGGCAGTAGTGGGGGAATAGTGGGAGGGTTGGAAGGTGA GTAGTAGCGGGGGAATAGTAGGAGGGTTGGAAGGTGAGTAGTTGGAGGGA GGAAATAGTGGGAGGGTTGGAAGGTGAGTAGTAGTGGGGAAATAGTGGAA GGGTTGGAAGGTGAGTAGTAGGGGGGGATAGTGGGAGGGTTGGAAGGTGA GTACTGGGAGGGTTGGATGGTGAGTAGTAGTGGGGGGAATAGGAGGGTTG GAAGGTGAGTAGTGGGAGAGGACATAGTGGGAGGGTTGGATGGTGAGTAG TGGGGGGGAAATAGTGGAAGGGTTGGATGGTGAGTAGTCGGGGGGAAATA GTGGGAGGGTTGGAAGGTGAGTAGTAGGGGGGAAATAGTGGGAAGGTTGG AAGGTGAGTAGTGGGGGGAGGAAATAGTGGGAGGGTTGGAAGGTGAGTAG TGGGGGAGGAAATAGTGGGAGGGTTGGAAGGTGAGTAGTAGGGGGAGGAA ATAGTGGGAAGGTTGGAAGGTGAGTAGTCGGGGGAAATAGTGGGAGGGTT GGAAGGTGAGTAGTAGGGGGGAAATAGTGGGAAGGTTGGAAGGTGAGTAG TGGGGGGAGGAAATAGTGGGAGGGTTGGAAGGTGAGTAGTGGGGGAGGAA ATAGGGTTGGAAGGTGAGTAGTGGGGGAGGAAATAGGGTTGGAAGGTGAG TAGCAGGGGAGGAAATAGT	CCBE1	ENSG00000183287.15	transcript	ENST00000439986.9	protein_coding	3/10			chr18	TogoVar
CCBE1_chr18_59425939_59702423	59473813	T T	TTTCCTCC others(790): Show TTTCCTCCCCTGCTACTCACCTTCCAACCCTATTTCCTCCCCCACTACTC ACCTTCCAACCCTATTTCCTCCCCCACTACTCACCTTCCAACCCTCCCAC TATTTCCTCCCCCCACTACTCACCTTCCAACCTTCCCACTATTTCCCCCC TACTACTCACCTTCCAACCCTCCCACTATTTCCCCCCGACTACTCACCTT CCAACCTTCCCACTATTTCCTCCCCCTACTACTCACCTTCCAACCCTCCC ACTATTTCCTCCCCCACTACTCACCTTCCAACCCTCCCACTATTTCCTCC CCCCACTACTCACCTTCCAACCTTCCCACTATTTCCCCCCTACTACTCAC CTTCCAACCCTCCCACTATTTCCCCCCGACTACTCACCATCCAACCCTTC CACTATTTCCCCCCCACTACTCACCATCCAACCCTCCCACTATGTCCTCT CCCACTACTCACCTTCCAACCCTCCTATTCCCCCCACTACTACTCACCAT CCAACCCTCCCAGTACTCACCTTCCAACCCTCCCACTATTCCCCCCTACT ACTCCCCTTCCAACCCTTCCACTATTTCCCCACTACTACTCACCTTCCAA CCCTCCCACTATTTCCTCCCTCCAACTACTCACCTTCCAACCCTCCTACT ATTCCCCCGCTACTACTCACCTTCCAACCCTCCCACTATTCCCCCACTAC TGCCCACCTTCCAACCCTCCCACTATTCCCCCGCTACTACCTACCTTCCA ACCCTCCCACTATTTCCTCCCACCACTCACCTTCCAACCCTCCTACTA	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	240	0.0042	797	c.266 others(814): Show c.266-4207_266-4206insTAGTAGGAGGGTTGGAAGGTGAGTGGTG GGAGGAAATAGTGGGAGGGTTGGAAGGTAGGTAGTAGCGGGGGAATAGTG GGAGGGTTGGAAGGTGGGCAGTAGTGGGGGAATAGTGGGAGGGTTGGAAG GTGAGTAGTAGCGGGGGAATAGTAGGAGGGTTGGAAGGTGAGTAGTTGGA GGGAGGAAATAGTGGGAGGGTTGGAAGGTGAGTAGTAGTGGGGAAATAGT GGAAGGGTTGGAAGGGGAGTAGTAGGGGGGAATAGTGGGAGGGTTGGAAG GTGAGTACTGGGAGGGTTGGATGGTGAGTAGTAGTGGGGGGAATAGGAGG GTTGGAAGGTGAGTAGTGGGAGAGGACATAGTGGGAGGGTTGGATGGTGA GTAGTGGGGGGGAAATAGTGGAAGGGTTGGATGGTGAGTAGTCGGGGGGA AATAGTGGGAGGGTTGGAAGGTGAGTAGTAGGGGGGAAATAGTGGGAAGG TTGGAAGGTGAGTAGTGGGGGGAGGAAATAGTGGGAGGGTTGGAAGGTGA GTAGTGGGGGAGGAAATAGTGGGAGGGTTGGAAGGTGAGTAGTAGGGGGA GGAAATAGTGGGAAGGTTGGAAGGTGAGTAGTCGGGGGGAAATAGTGGGA GGGTTGGAAGGTGAGTAGTAGGGGGGAAATAGTGGGAAGGTTGGAAGGTG AGTAGTGGGGGGAGGAAATAGTGGGAGGGTTGGAAGGTGAGTAGTGGGGG AGGAAATAGGGTTGGAAGGTGAGTAGTGGGGGAGGAAATAGGGTTGGAAG GTGAGTAGCAGGGGAGGAA	CCBE1	ENSG00000183287.15	transcript	ENST00000439986.9	protein_coding	3/10			chr18	TogoVar
CCDC6_chr10_59783747_59911556	59882204	G G	GGAAAGCC others(790): Show GGAAAGCCGGGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGC CGGGGAGAAGGAAAGGAAAGCCGCAGGGAGAAGGAAAGGAAAGCCGGGGG GAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGGGAGA AGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGA AAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGG AAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAG CCGCGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGG GGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGGGGGG AGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAA GGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAA AGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGA AAGCCGGGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGC CGGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGG GGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGGGA GAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAG GAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0138 a0001c0001t0002g0138	1	281	0.0036	797	c.303 others(816): Show c.303+23917_303+23918insTTTCCTTCTCCCCGGCTTTCCTTTCC TTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCT CCCCGCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCC CCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCGCCGG CTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCGCGGCTTT CCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCTT TCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCT TCTCCCGCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTC CCCGCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCG CGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCCCGGC TTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTC CTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTT CCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTT CTCCCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCC CCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCTGC GGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCC TTTCCTTCTCCCCCGGCTTTC	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8			chr10	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(790): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAGAGAGAGGGAGGGAGGGAGGGAGGGAGGAAGGGG CGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAAATTGAAATA AATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATAAAACACTAT AATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCTATGTAGTTA ACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAATTGTGCAGTG AAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGTACTTTGGAA GGGTCACTAAAATCTACAATAAAAAAGATTCCTTAAATATCCTAGAGGCA GAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTGGACATGAAGTGTG AGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGGAGTTTCTCA TAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGAATTATACGT TAAACAATAAGTCATATTTATTGAACCTCCATAGATATATATGTATGCTA TAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGATATAAATTTAAAA CTATCAATATCAATAGGTCTAAATATTCATGGGCAATACATCCATACTAC ATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTT GGTTTTTTGTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCATGCTGGA	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0131 a0002c0003t0003g0131	1	38	0.0263	797	c.248 others(814): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAGAGAGAGGGAGGGAGGGAGGG AGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAA AGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGT TATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAA TTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGA AAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGAC AAGTACTTTGGAAGGGTCACTAAAATCTACAATAAAAAAGATTCCTTAAA TATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTG GACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGT TTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGA AGGAATTATACGTTAAACAATAAGTCATATTTATTGAACCTCCATAGATA TATATGTATGCTATAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGA TATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAAT ACATCCATACTACATATATATATATATATATATATATATTTTTTTTTTTT TTTTTTTTTTTTTGGTTTTTTGTTTTTTGAGATGAAGTCTCGCTCTGTCG CCCATGCTGGAGTGCAGTG	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(790): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAGAGAGAGGGAGGGAGGGAGGGAGGGAGGAAGGGG CGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAAATTGAAATA AATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATAAAACACTAT AATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCTATGTAGTTA ACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAATTGTGCAGTG AAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGTACTTTGGAA GGGTCACTAAAATCTACAATAAAAAAGATTCCTTAAATATCCTAGAGGCA GAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTGGACATGAAGTGTG AGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGGAGTTTCTCA TAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGAATTATACGT TAAACAATAAGTCATATTTATTGAACCTCCATAGATATATATGTATGCTA TAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGATATAAATTTAAAA CTATCAATATCAATAGGTCTAAATATTCATGGGCAATACATCCATACTAC ATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTT GGTTTTTTGTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCATGCTGGA	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA19077.hp1 NA18984.hp1 NA19077.hp1	a0008 a0013 a0008 a0013	a0008c0007 a0013c0011 a0008c0007 a0013c0011	a0008c0007t0007 a0013c0011t0007 a0008c0007t0007 a0013c0011t0007	a0008c0007t0007g0117 a0013c0011t0007g0115 a0008c0007t0007g0117 a0013c0011t0007g0115	2	39	0.0513	797	c.248 others(814): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAGAGAGAGGGAGGGAGGGAGGG AGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAA AGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGT TATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAA TTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGA AAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGAC AAGTACTTTGGAAGGGTCACTAAAATCTACAATAAAAAAGATTCCTTAAA TATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTG GACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGT TTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGA AGGAATTATACGTTAAACAATAAGTCATATTTATTGAACCTCCATAGATA TATATGTATGCTATAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGA TATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAAT ACATCCATACTACATATATATATATATATATATATATTTTTTTTTTTTTT TTTTTTTTTTTTTGGTTTTTTGTTTTTTGAGATGAAGTCTCGCTCTGTCG CCCATGCTGGAGTGCAGTG	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(790): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAGAGAGAGGGAGGGAGGGAGGGAGGGAGGAAGGGG CGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAAATTGAAATA AATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATAAAACACTAT AATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCTATGTAGTTA ACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAATTGTGCAGTG AAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGTACTTTGGAA GGGTCACTAAAATCTACAATAAAAAAGATTCCTTAAATATCCTAGAGGCA GAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTGGACATGAAGTGTG AGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGGAGTTTCTCA TAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGAATTATACGT TAAACAATAAGTCATATTTATTGAACCTCCATAGATATATATGTATGCTA TAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGATATAAATTTAAAA CTATCAATATCAATAGGTCTAAATATTCATGGGCAATACATCCATACTAC ATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTT GGTTTTTTGTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCATGCTGGA	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0014 a0014	a0014c0010 a0014c0010	a0014c0010t0003 a0014c0010t0003	a0014c0010t0003g0130 a0014c0010t0003g0130	1	38	0.0263	797	c.248 others(814): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAGAGAGAGGGAGGGAGGGAGGG AGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAA AGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGT TATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAA TTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGA AAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGAC AAGTACTTTGGAAGGGTCACTAAAATCTACAATAAAAAAGATTCCTTAAA TATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTG GACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGT TTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGA AGGAATTATACGTTAAACAATAAGTCATATTTATTGAACCTCCATAGATA TATATGTATGCTATAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGA TATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAAT ACATCCATACTACATATATATATATATATATATATTTTTTTTTTTTTTTT TTTTTTTTTTTTTGGTTTTTTGTTTTTTGAGATGAAGTCTCGCTCTGTCG CCCATGCTGGAGTGCAGTG	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar

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