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
NFATC1_chr18_79390930_79534323	79494277	A A	ACGGCCGG others(474): Show ACGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATGAACCTGGTAC GGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATGAACCTGGTACGG CCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATGAACCTGGTGCGGCC GGGGGAAGGCGAGAACGGGCACACGCCCCCCATCAACCTGGTACCGCCGG GGGAAGGCGAGAACGGGCACACGCCCCCCATCAACCTGGTGCGGCCGGGG GGAAGGCGAGAGCGGGCACACGCCCCCCATGAACCTGGTACCGCCGGGGG AAGGCGAGAGCGGGCACACGCCCCCCATCGACCTGGTGCGGCCGGGGGAA GGCGAGAGGGGGCACACGCCCCCCATGAACCTGGTACCGCTGGGGGAAGG CGAGAGCGGGCACACGCCCCCCATGAACCTGGTACGGCCGGGGGAAGGCG AGAGCGGGCACACGCCCCCCATGAACCTGGTG	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0017 a0002c0002t0017	a0002c0002t0017g0162 a0002c0002t0017g0162	1	202	0.0050	481	c.278 others(500): Show c.2782+7341_2782+7342insGGCCGGGGGAAGGCGAGAGCGGGCAC ACGCCCCCCATGAACCTGGTACGGCCGGGGGAAGGCGAGAGCGGGCACAC GCCCCCCATGAACCTGGTACGGCCGGGGGAAGGCGAGAGCGGGCACACGC CCCCCATGAACCTGGTGCGGCCGGGGGAAGGCGAGAACGGGCACACGCCC CCCATCAACCTGGTACCGCCGGGGGAAGGCGAGAACGGGCACACGCCCCC CATCAACCTGGTGCGGCCGGGGGGAAGGCGAGAGCGGGCACACGCCCCCC ATGAACCTGGTACCGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCAT CGACCTGGTGCGGCCGGGGGAAGGCGAGAGGGGGCACACGCCCCCCATGA ACCTGGTACCGCTGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATGAAC CTGGTACGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATGAACCT GGTGC	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NFATC1_chr18_79390930_79534323	79532308	C C	CCGGCAGA others(474): Show CCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCTCGGCAGACC CTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTC CTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGC CCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCC CCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACC CTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTC CTCTTGCAGCCCCCCGCCCCTCGGCAGACCCTCCTGTCTCCTCTTGCAGC CCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCC CCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCCGGCAGAC CCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0011 a0011	a0011c0042 a0011c0042	a0011c0042t0003 a0011c0042t0003	a0011c0042t0003g0152 a0011c0042t0003g0152	1	294	0.0034	481	c.47 others(492): Show c.4731_*4732insCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCC GCCCCTCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGC AGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCT GTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTT GCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCC GCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGC AGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCTCGGCAGACCCTCCT GTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCT GCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCC GCCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCT	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding		2986		chr18	TogoVar
NOC4L_chr12_132139457_132157468	132149664	C C	CACACCAC others(474): Show CACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCTACC ACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCTACCACACCC CTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCTACCACACCCCTAATC CCCTCGGTGAGTGCCGCCGCCTCGCTCCTACCACACCCCTAATCCCCTCG GTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGT GCGGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCC GCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCG CTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACA CCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACAC CCCTAATCCCCTCGGTGAGTGCGGCCGCCTCG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	284	0.0035	481	c.901 others(496): Show c.901+769_901+770insACACCACACCCCTAATCCCCTCGGTGAGTG CCGCCGCCTCGCTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCG CCTCGCTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGC TCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCTAC CACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACC CCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAAT CCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAATCCCCTC GGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAG TGCGGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGC CGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTC G	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14			chr12	TogoVar
NOP14_chr4_2932936_2968406	2961219	T T	TAGTAACT others(474): Show TAGTAACTATATTAATATAGTTAGTATATATTAATATATAGTAACTATAT TAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAG TTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTA ATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAA CTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATA ATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGT ATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATA TAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATA TTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATA GTTAGTATATTAATATATAGTAACTATATTAA	intron_variant intron_variant	MODIFIER	HG02258.hp2 NA18953.hp1 HG02258.hp2 NA18953.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0003 a0002c0002t0001 a0002c0002t0003	a0002c0002t0001g0283 a0002c0002t0003g0282 a0002c0002t0001g0283 a0002c0002t0003g0282	2	277	0.0072	481	c.195 others(498): Show c.195+1905_195+1906insTTAATATAGTTACTATATATTAATATAC TAACTATATTATTAATATAGTTACTATATATTAATATACTAACTATATTA TTAATATAGTTACTATATATTAATATACTAACTATATTATTAATATAGTT ACTATATATTAATATACTAACTATATTATTAATATAGTTACTATATATTA ATATACTAACTATATTATTAATATAGTTACTATATATTAATATACTAACT ATATTATTAATATAGTTACTATATATTAATATACTAACTATATTATTAAT ATAGTTACTATATATTAATATACTAACTATATTATTAATATAGTTACTAT ATATTAATATACTAACTATATTATTAATATAGTTACTATATATTAATATA CTAACTATATTATTAATATAGTTACTATATATTAATATACTAACTATATT ATTAATATAGTTACTATATATTAATATATACTAACTATATTAATATAGTT ACT	NOP14	ENSG00000087269.16	transcript	ENST00000416614.7	protein_coding	1/17			chr4	TogoVar
OR2T6_chr1_248370746_248396811	248383435	A A	AGTGTTTC others(474): Show AGTGTTTCCTAGTGTTATCATCATGGAAGGGAGAAAGCACTGCACTAGCC TGAGTGTGCTCATCCTATCCTGATGTGTTTCCTAATGTTATTGTCATGGG TAAAGCACTGCACTAGCCTGAGTGTGCTCATCCTCTCCTGAAGTGTTTCC TAGTGTTATCATCATGGAGAAAGCACTGCACTAGCCTGAGTGTGCTCATC CTCTCCTGAAGTGTTTCCTAGTGTTATCATCATGGAGAAAGCACTGCACT AGCCTGAGTGTGCTCATCCTATCCTGATGTGTTTCCTAGTGTTATCATCA TGGAGAAAGCACTGCACTAGCCTGAGTGTGCTCATCCTCTCCTGAAGTGT TTCCTAATGTTATTGTCATGGGTAAAGCACTGCACTAGCCTGAGTGTGCT CATCCTATCCTGAAGTGTTTCCTAGTGTTATCATCATGGAGAAAGCACTG CACTAGCCTGAGTGTGCTCATCCTATCCTGAT	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0006 a0001c0001t0038g0006	1	341	0.0029	481	c.-15 others(500): Show c.-158-1250_-158-1249insAGGGAGAAAGCACTGCACTAGCCTGA GTGTGCTCATCCTATCCTGATGTGTTTCCTAATGTTATTGTCATGGGTAA AGCACTGCACTAGCCTGAGTGTGCTCATCCTCTCCTGAAGTGTTTCCTAG TGTTATCATCATGGAGAAAGCACTGCACTAGCCTGAGTGTGCTCATCCTC TCCTGAAGTGTTTCCTAGTGTTATCATCATGGAGAAAGCACTGCACTAGC CTGAGTGTGCTCATCCTATCCTGATGTGTTTCCTAGTGTTATCATCATGG AGAAAGCACTGCACTAGCCTGAGTGTGCTCATCCTCTCCTGAAGTGTTTC CTAATGTTATTGTCATGGGTAAAGCACTGCACTAGCCTGAGTGTGCTCAT CCTATCCTGAAGTGTTTCCTAGTGTTATCATCATGGAGAAAGCACTGCAC TAGCCTGAGTGTGCTCATCCTATCCTGATGTGTTTCCTAGTGTTATCATC ATGGA	OR2T6	ENSG00000198104.4	transcript	ENST00000641644.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
OSGIN1_chr16_83948240_83971332	83951962	C C	CCCTCCCT others(474): Show CCCTCCCTCTTCCCTTCCTCCTTCCCTCCCTCCCTCCTTCCCTCCCTCCC TGCCTCCCTCCCCCTCCCTCCTTCCCTCCCTGCCTTCCTCCCCCTTTCCC TCCCTCCCTCCTTCCCTCCTTCCTCCCTTCCTCCTTCCCTCCCTCCTCCC TTCCTCCTTCCCTCCCTCCTCCCTTCCTCCTTCCCTCCCTCCTCCTTTCC CTCCCCTCCATCCCTTCCTCCTTCCCTCCCTCCCTCCTTCCCTCCCTGCC TTCCACCCTCCTTCCCTCCCTCCTCCCTTCCTCCCTCCTTCCCTCCGTCC TCCCTTCCTCCCTCCCTCCCTACTTCCCTCCCTCCCTGCCTCCCTCCTTC CCTCCCTCCCTGCCTCCCTCCTTTCCTCCCTCCCTCCTTCCCTCCCTCCC TGCCTTCCTCCCTCCTTCCTTCCCTCCCTCCCTGCCTCCCTCCTTCCCTC CCTCCCTGCCTCCCTCCTTCCCTCCCTCCCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0144 a0001c0004t0001g0144	1	61	0.0164	481	c.-14 others(492): Show c.-1441_-1440insCCTCCCTCTTCCCTTCCTCCTTCCCTCCCTCCCT CCTTCCCTCCCTCCCTGCCTCCCTCCCCCTCCCTCCTTCCCTCCCTGCCT TCCTCCCCCTTTCCCTCCCTCCCTCCTTCCCTCCTTCCTCCCTTCCTCCT TCCCTCCCTCCTCCCTTCCTCCTTCCCTCCCTCCTCCCTTCCTCCTTCCC TCCCTCCTCCTTTCCCTCCCCTCCATCCCTTCCTCCTTCCCTCCCTCCCT CCTTCCCTCCCTGCCTTCCACCCTCCTTCCCTCCCTCCTCCCTTCCTCCC TCCTTCCCTCCGTCCTCCCTTCCTCCCTCCCTCCCTACTTCCCTCCCTCC CTGCCTCCCTCCTTCCCTCCCTCCCTGCCTCCCTCCTTTCCTCCCTCCCT CCTTCCCTCCCTCCCTGCCTTCCTCCCTCCTTCCTTCCCTCCCTCCCTGC CTCCCTCCTTCCCTCCCTCCCTGCCTCCCTCCTTCCCTCCCTCCCTG	OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding		1277		chr16	TogoVar
PNPLA7_chr9_137454952_137555402	137503786	G G	GAAAAAAG others(474): Show GAAAAAAGAGAGAAGAAGAAAGAAATAGAAGAAGGGAGAAGGAAGAAGGA AGAAGAAAGAAGAAGAAGGAAGAAGAAGGAAGAAGAAGCAGAAAGAAGAA GAAGAAGGAAGAAGGAGGAAGAAGGAAGAAAAAGGAAGAAGGAAGAAGAA GAAGGAAGAAGGAAAAAGAAGGAAGAAAAAGAAGGAAGAAAGAAGAAGAA GGAAGAAGAAGAAAGAAGAAGAAGAAGGAAGAAGGAAGAAGAAAGAAGAA GGAAGAAGAAGAAGGAAGAAGGAAGGAGAAGGAAGAAGGAAGAAAGAAGA AGAAGGAAGAAGGAAGAAGAAGGAAGAAGGAACAAGAAGGAAGAAAAAGA AGGAAGAAGGAAGAAGAAGGAAGAAGGAAGAAGAAAGAAGAAGGAAGAAG AAGAAAGAAAGAAGAAAGAAGAAGAAAGAAGAAAGGAAGAAGAAAAAAGG AAGAGGAAGAAAAGAAGAAGGAAGAAGAAAGA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0005 a0005	a0005c0053 a0005c0053	a0005c0053t0001 a0005c0053t0001	a0005c0053t0001g0132 a0005c0053t0001g0132	1	14	0.0714	481	c.147 others(500): Show c.1473+1827_1473+1828insTCTTTCTTCTTCCTTCTTCTTTTCTT CCTCTTCCTTTTTTCTTCTTCCTTTCTTCTTTCTTCTTCTTTCTTCTTTC TTTCTTCTTCTTCCTTCTTCTTTCTTCTTCCTTCTTCCTTCTTCTTCCTT CTTCCTTCTTTTTCTTCCTTCTTGTTCCTTCTTCCTTCTTCTTCCTTCTT CCTTCTTCTTCTTTCTTCCTTCTTCCTTCTCCTTCCTTCTTCCTTCTTCT TCTTCCTTCTTCTTTCTTCTTCCTTCTTCCTTCTTCTTCTTCTTTCTTCT TCTTCCTTCTTCTTCTTTCTTCCTTCTTTTTCTTCCTTCTTTTTCCTTCT TCCTTCTTCTTCTTCCTTCTTCCTTTTTCTTCCTTCTTCCTCCTTCTTCC TTCTTCTTCTTCTTTCTGCTTCTTCTTCCTTCTTCTTCCTTCTTCTTCTT TCTTCTTCCTTCTTCCTTCTCCCTTCTTCTATTTCTTTCTTCTTCTCTCT TTTTT	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	14/34			chr9	TogoVar
RAC2_chr22_37220270_37249269	37227202	C C	CCTCCCAC others(474): Show CCTCCCACACCATACACCCCTCCCACACCATACACTCCTCCCATGCCTCC CATGCCATACAAGCCCTCCTGTGCCATACACACCCCTCCCACGCCATACA CCCCCCTCCCACGCCTCCCACACCATACACCCCTCCCACACCATACACCC CTCCCACGCCTCCCACACCATACAAGCCCTCCCGTGCCATACACCCCTCC CACAGCATATAACCCCTCCCACGCCATAAAACCCCTCTCACACCATACAC CCCCCTCCCACACCTCCCACGCCATACAACCCCTCTCACACCATACACCG CTCCCATGCCATACACCCCTCCCACGCCTCCCATGCCATACAACCCTCCC ATGACATACAGCCCCTCCTACGCCATACAACCCCTCCTGTGCCATACACC CCTCCCACGTCATACACCCCCTCCCACGTCATACATCCCCTCCCATGCCT CCCACACCATACAACCCCTCCCACGCCATACA	intron_variant intron_variant	MODIFIER	HG02040.hp2 NA18963.hp1 NA18967.hp2 others(5): Show HG02040.hp2 NA18963.hp1 NA18967.hp2 NA18971.hp1 NA18973.hp1 NA19000.hp1 NA19007.hp2 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0009 a0001c0001t0004g0009	8	230	0.0348	481	c.449 others(496): Show c.449-400_449-399insTGTATGGCGTGGGAGGGGTTGTATGGTGTG GGAGGCATGGGAGGGGATGTATGACGTGGGAGGGGGTGTATGACGTGGGA GGGGTGTATGGCACAGGAGGGGTTGTATGGCGTAGGAGGGGCTGTATGTC ATGGGAGGGTTGTATGGCATGGGAGGCGTGGGAGGGGTGTATGGCATGGG AGCGGTGTATGGTGTGAGAGGGGTTGTATGGCGTGGGAGGTGTGGGAGGG GGGTGTATGGTGTGAGAGGGGTTTTATGGCGTGGGAGGGGTTATATGCTG TGGGAGGGGTGTATGGCACGGGAGGGCTTGTATGGTGTGGGAGGCGTGGG AGGGGTGTATGGTGTGGGAGGGGTGTATGGTGTGGGAGGCGTGGGAGGGG GGTGTATGGCGTGGGAGGGGTGTGTATGGCACAGGAGGGCTTGTATGGCA TGGGAGGCATGGGAGGAGTGTATGGTGTGGGAGGGGTGTATGGTGTGGGA G	RAC2	ENSG00000128340.16	transcript	ENST00000249071.11	protein_coding	5/6			chr22	TogoVar
RAP1GAP2_chr17_2791438_3042741	2831059	C C	CCCCTCCT others(474): Show CCCCTCCTTCCCCTCCCCTTCCTCTCCCTTCCCCTCCCCTCCCTTCCCCT CCCTCCTCCTCCTCCCCCTCCCTCCCCTCCCCTTCCTTCCCCTCTCCTTC CTTCTCCCTCCCCTTCCCCTTCTCCCTCCCTTTCCCTCCCCTCCCTCCCC TCCCCCTCCCCCTTCCCTCCCTTCCCCTCCCCTCCCTCTCCCCTCCCTCC CCTCCCCTTTTCTCCCTTCCCCCCTCCCATCCCCTACACTTCCCTCCCCC TCCCCCTTCCCCTACACTTCCGTCCCCCTCCCCTTCCCTACACTTCCCTT CCCTCCCCCTCCCCTCCCTTTCCCTCCTCTTCCCTCCCCTCCCTTCCCGT CCCCTTCCCTCCCTTCCCCTCCCCCCACCCTCCCTTCCCCTCCCTTCTTC TCTCCCCCTCCCCCTCCCCTTCCCTCCCTTCCCCCTCCCCTCCCCTCCCT TTCCCTCCCCCTCCCCTCCCCTCCCTTCCCAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0097 a0001c0001t0003g0097	1	10	0.1000	481	c.80+ others(498): Show c.80+30509_80+30510insCCCTCCTTCCCCTCCCCTTCCTCTCCCT TCCCCTCCCCTCCCTTCCCCTCCCTCCTCCTCCTCCCCCTCCCTCCCCTC CCCTTCCTTCCCCTCTCCTTCCTTCTCCCTCCCCTTCCCCTTCTCCCTCC CTTTCCCTCCCCTCCCTCCCCTCCCCCTCCCCCTTCCCTCCCTTCCCCTC CCCTCCCTCTCCCCTCCCTCCCCTCCCCTTTTCTCCCTTCCCCCCTCCCA TCCCCTACACTTCCCTCCCCCTCCCCCTTCCCCTACACTTCCGTCCCCCT CCCCTTCCCTACACTTCCCTTCCCTCCCCCTCCCCTCCCTTTCCCTCCTC TTCCCTCCCCTCCCTTCCCGTCCCCTTCCCTCCCTTCCCCTCCCCCCACC CTCCCTTCCCCTCCCTTCTTCTCTCCCCCTCCCCCTCCCCTTCCCTCCCT TCCCCCTCCCCTCCCCTCCCTTTCCCTCCCCCTCCCCTCCCCTCCCTTCC CAT	RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	2/24			chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79554464	C C	CACCTGGC others(474): Show CACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCT CCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCCTCACTCA CAGTCACCCCTCACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCCGA CCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCTCC ATCTTCACTCACAGTCACCCCCGACCTGGCCCTCTCCATCTTCACTCACA GTCACCCCCGACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACC TGGCCCTCTCCATCCTCACTCACAGTCACCCCCGACCTGGCCCTCTCCAT CCTCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCCTCACTCACAGT CACCCCTCACCTGGCCCTCTCCATCTTCACTCACAGTCACCCCCGACCTG GCCCTCTCCATCTTCACTCACAGTCACCCCCG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0133 a0001c0001t0004g0133	1	79	0.0127	481	c.-32 others(502): Show c.-320+56361_-320+56362insCGGGGGTGACTGTGAGTGAAGATG GAGAGGGCCAGGTCGGGGGTGACTGTGAGTGAAGATGGAGAGGGCCAGGT GAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTGAGGGGTGACTGT GAGTGAGGATGGAGAGGGCCAGGTCGGGGGTGACTGTGAGTGAGGATGGA GAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTCG GGGGTGACTGTGAGTGAAGATGGAGAGGGCCAGGTCGGGGGTGACTGTGA GTGAAGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGA GGGCCAGGTCGGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTGAGG GGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGT GAGGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGG GCCAGGT	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79554464	C C	CACCTGGC others(474): Show CACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCT CCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCCTCACTCA CAGTCACCCCTCACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCA CCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCTCC ATCCTCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCCTCACTCACA GTCACCCCTCACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACC TGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCTCCAT CCTCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCCTCACTCACAGT CACCCCCGACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACCTG GCCCTCTCCATCTTCACTCACAGTCACCCCCG	intron_variant intron_variant	MODIFIER	HG06807.hp1 NA20129.hp1 HG06807.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0066 a0001c0001t0004g0118 a0001c0001t0001g0066 a0001c0001t0004g0118	2	80	0.0250	481	c.-32 others(502): Show c.-320+56361_-320+56362insCGGGGGTGACTGTGAGTGAAGATG GAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGT CGGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTGAGGGGTGACTGT GAGTGAGGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGA GAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTGA GGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTGAGGGGTGACTGTGA GTGAGGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGA GGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTGAGG GGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGT GAGGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGG GCCAGGT	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RPA3_chr7_7631518_7723607	7678876	T T	TATAAATA others(474): Show TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTT TATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATATTT AGTTTATAAATACATATTTATATATTTAATTTATAGATAAATATATATTT ATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGAT AAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATT TAATTTATAGATAAATATATTTATATATTTAATTTATAGATAAATATATA TTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATA GATAAATATATATTTATATATTTAGTTTATAG	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02132.hp1 HG01081.hp2 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0281 a0001c0001t0001g0071 a0001c0001t0001g0281	2	281	0.0071	481	c.-75 others(500): Show c.-758+6953_-758+6954insCTATAAACTAAATATATAAATATATA TTTATCTATAAACTAAATATATAAATATATATTTATCTATAAACTAAATA TATAAATATATATTTATCTATAAATTAAATATATAAATATATTTATCTAT AAATTAAATATATAAATATATATTTATCTATAAATTAAATATATAAATAT ATATTTATCTATAAATTAAATATATAAATATATATTTATCTATAAATTAA ATATATAAATATATATTTATCTATAAATTAAATATATAAATATGTATTTA TAAACTAAATATATAAATATGTATTTATAAACTAAATATGTAAATATGTA TTTATAAACTAAATATGTAAATATGTATTTATAAACTAAATAAATATATA TTTATAAACTAAATATGTAAATATATATTTATAAACTAAATAAATATATA TTTATAAACTAAATATGTAAATATATATTTATAAACTAAATAAATATATA TTTAT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RPA3_chr7_7631518_7723607	7679065	T T	TATAAATA others(474): Show TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTT TATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATATTT AGTTTATAAATACATATTTATATATTTAATTTATAGATAAATATATATTT ATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGAT AAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATT TAATTTATAGATAAATATATTTATATATTTAATTTATAGATAAATATATA TTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATA GATAAATATATATTTATATATTTAGTTTATAG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02451.hp1 HG03098.hp2 others(1): Show HG02280.hp1 HG02451.hp1 HG03098.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0014	a0001c0001t0001g0111 a0001c0001t0002g0012 a0001c0001t0007g0149 others(1): Show a0001c0001t0001g0111 a0001c0001t0002g0012 a0001c0001t0007g0149 a0001c0001t0014g0124	4	215	0.0186	481	c.-75 others(500): Show c.-758+6764_-758+6765insCTATAAACTAAATATATAAATATATA TTTATCTATAAACTAAATATATAAATATATATTTATCTATAAACTAAATA TATAAATATATATTTATCTATAAATTAAATATATAAATATATTTATCTAT AAATTAAATATATAAATATATATTTATCTATAAATTAAATATATAAATAT ATATTTATCTATAAATTAAATATATAAATATATATTTATCTATAAATTAA ATATATAAATATATATTTATCTATAAATTAAATATATAAATATGTATTTA TAAACTAAATATATAAATATGTATTTATAAACTAAATATGTAAATATGTA TTTATAAACTAAATATGTAAATATGTATTTATAAACTAAATAAATATATA TTTATAAACTAAATATGTAAATATATATTTATAAACTAAATAAATATATA TTTATAAACTAAATATGTAAATATATATTTATAAACTAAATAAATATATA TTTAT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RPA3_chr7_7631518_7723607	7679092	T T	TATAAATA others(474): Show TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTT TATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATATTT AGTTTATAAATACATATTTATATATTTAATTTATAGATAAATATATATTT ATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGAT AAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATT TAATTTATAGATAAATATATTTATATATTTAATTTATAGATAAATATATA TTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATA GATAAATATATATTTATATATTTAGTTTATAG	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01192.hp2 HG01346.hp2 others(14): Show HG01123.hp1 HG01192.hp2 HG01346.hp2 HG02135.hp1 HG02523.hp1 HG03710.hp1 HG03831.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp2 NA18973.hp1 NA18985.hp2 NA19000.hp1 NA19005.hp2 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0016	a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0159 others(14): Show a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0159 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0186 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0205 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0253 a0001c0001t0001g0260 a0001c0001t0001g0279 a0001c0001t0002g0094 a0001c0001t0003g0224 a0001c0001t0016g0105	17	145	0.1172	481	c.-75 others(500): Show c.-758+6737_-758+6738insCTATAAACTAAATATATAAATATATA TTTATCTATAAACTAAATATATAAATATATATTTATCTATAAACTAAATA TATAAATATATATTTATCTATAAATTAAATATATAAATATATTTATCTAT AAATTAAATATATAAATATATATTTATCTATAAATTAAATATATAAATAT ATATTTATCTATAAATTAAATATATAAATATATATTTATCTATAAATTAA ATATATAAATATATATTTATCTATAAATTAAATATATAAATATGTATTTA TAAACTAAATATATAAATATGTATTTATAAACTAAATATGTAAATATGTA TTTATAAACTAAATATGTAAATATGTATTTATAAACTAAATAAATATATA TTTATAAACTAAATATGTAAATATATATTTATAAACTAAATAAATATATA TTTATAAACTAAATATGTAAATATATATTTATAAACTAAATAAATATATA TTTAT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RPA3_chr7_7631518_7723607	7679092	T T	TATAAATA others(474): Show TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTT TATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATATTT AGTTTATAAATACATATTTATATATTTAATTTATAGATAAATATATATTT ATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGAT AAATATATATTTATATATTTAATTTATAGATAAATATATTTATATATTTA ATTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATA TTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATA GATAAATATATATTTATATATTTAGTTTATAG	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	129	0.0078	481	c.-75 others(500): Show c.-758+6737_-758+6738insCTATAAACTAAATATATAAATATATA TTTATCTATAAACTAAATATATAAATATATATTTATCTATAAACTAAATA TATAAATATATATTTATCTATAAACTAAATATATAAATATATATTTATCT ATAAATTAAATATATAAATATATTTATCTATAAATTAAATATATAAATAT ATATTTATCTATAAATTAAATATATAAATATATATTTATCTATAAATTAA ATATATAAATATATATTTATCTATAAATTAAATATATAAATATGTATTTA TAAACTAAATATATAAATATGTATTTATAAACTAAATATGTAAATATGTA TTTATAAACTAAATATGTAAATATGTATTTATAAACTAAATAAATATATA TTTATAAACTAAATATGTAAATATATATTTATAAACTAAATAAATATATA TTTATAAACTAAATATGTAAATATATATTTATAAACTAAATAAATATATA TTTAT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
SAMD12_chr8_118372984_118626963	118469556	A A	AATATATA others(474): Show AATATATAATATATTATTATATATTATATATAATATATTATTATATATTA TATATAATATATAATAATATTATTATATATTATATATTATTATATATTAT ATATAATATATAATAATATATTATATATAATATATAAATATATATTATAT AATATATATATATAATATATAATATATTATATATATTATATATTATATAT AATATATATAATAATATATTATATAATATATATTATATAAATATATATTA TATAAATATATATTATATTTATATAATATATATTATATATTTATATAATA TATATATTATTAATATATAATATATATTATATATATTAAATATATATAAT ATATATATATATAATATATAATATATATATTTAATATATATAAAATATAT ATTATATATATTTAATATATATAAAATATATATTATTTTTATATATATTT AATATATATAAAATATATATTATTAAATATAT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0059 a0001c0001t0004g0059	1	23	0.0435	481	c.193 others(500): Show c.193-29596_193-29595insATATATTTAATAATATATATTTTATA TATATTAAATATATATAAAAATAATATATATTTTATATATATTAAATATA TATAATATATATTTTATATATATTAAATATATATATTATATATTATATAT ATATATATTATATATATTTAATATATATAATATATATTATATATTAATAA TATATATATTATATAAATATATAATATATATTATATAAATATAATATATA TTTATATAATATATATTTATATAATATATATTATATAATATATTATTATA TATATTATATATAATATATAATATATATAATATATTATATATTATATATA TATATTATATAATATATATTTATATATTATATATAATATATTATTATATA TTATATATAATATATAATAATATATAATATATAATAATATTATTATATAT TATATATAATATATAATAATATATTATATATAATATATAATAATATATTA TATAT	SAMD12	ENSG00000177570.15	transcript	ENST00000314727.9	protein_coding	2/3			chr8	TogoVar
SARDH_chr9_133658560_133743352	133668454	T T	TCCCTCAC others(474): Show TCCCTCACCCTCCCTCTCCCCTCACCCTCTCTCTCCCTCACCCTCCCTCT CCCCTCGCCCTCCCTCTCCCCTCGCCCTCCCTCTCCCCTCACCCTCACCC TCCCTCTCCCTCACCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCCCCT CACCCTCTCTCTCCCTCACCCTCCCTCTCCCCTCGCCCTCCCTCTCCCCT CGCCCTCCCTCTCCCCTCACCCTCACCCTCCCTCTCCCTCACCCTCACCC TCCCTCTCCCCTCACCCTCCCTCTCCCCTCGCCCTCCCTCTCCCCTCGCC CTCCCTCTCCCCTCACCCTCACCCTCCCTCTCCCTCACCCTCACCCTCCC TCTCCCTCACCCTCCCTCTCCCCTCACCCTCTCTCTCCCTCACCCTCCCT CTCCCCTCGCCCTCCCTCTCCCCTCGCCCTCCCTCTCCCCTCACCCTCAC CCTCCCTCTCCCTCACCCTCACCCTCCCTCTC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0129 a0002c0002t0002g0129	1	193	0.0052	481	c.249 others(500): Show c.2496-1585_2496-1584insGAGAGGGAGGGTGAGGGTGAGGGAGA GGGAGGGTGAGGGTGAGGGGAGAGGGAGGGCGAGGGGAGAGGGAGGGCGA GGGGAGAGGGAGGGTGAGGGAGAGAGAGGGTGAGGGGAGAGGGAGGGTGA GGGAGAGGGAGGGTGAGGGTGAGGGAGAGGGAGGGTGAGGGTGAGGGGAG AGGGAGGGCGAGGGGAGAGGGAGGGCGAGGGGAGAGGGAGGGTGAGGGGA GAGGGAGGGTGAGGGTGAGGGAGAGGGAGGGTGAGGGTGAGGGGAGAGGG AGGGCGAGGGGAGAGGGAGGGCGAGGGGAGAGGGAGGGTGAGGGAGAGAG AGGGTGAGGGGAGAGGGAGGGTGAGGGAGAGGGAGGGTGAGGGTGAGGGA GAGGGAGGGTGAGGGTGAGGGGAGAGGGAGGGCGAGGGGAGAGGGAGGGC GAGGGGAGAGGGAGGGTGAGGGAGAGAGAGGGTGAGGGGAGAGGGAGGGT GAGGG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SBNO2_chr19_1102638_1179268	1166026	C C	CCAGATCT others(474): Show CCAGATCTCAGACCCCAGATCCCAGACCCCAAGATCCCAGACCCCAGATC CTAGACCCCAGACCTCAGACCCCAGATCTCAGACCCCAGATCCAGACCCC AGATCTCAGACCCCAGATCCCAGACCCCAGATCCTAGATCTCAGACCCCA GATCTCAGACCCCAGACCCCAGATCCCAGACCCCAAGATCCCAGACCCCA GATCCTAGATCCCAGACCTCAGACCCCAGATCTCAGACCCCAGATCTCAG ACCCCAGATCCCAGATCCCAAAACCCAGACCCCAGACCTCAGACCTCAGA CCCCCAGACCCCAGATCCCAGACCCCAGACCTCAGACCCCAGATCCCAGA CCCCAGATCACCAGATCTCAGACCCCAGACCCCAGATCCCAGACTTCAGA TCCCTAGACCTCAGACCCCAGACCCCAGATCCCAGACCCCAAACCTCAGA CCCCAGATCCCAGACCCCAGATCACCAGATCT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0041 a0002c0003t0001g0041	1	79	0.0127	481	c.-12 others(500): Show c.-127+8145_-127+8146insAGATCTGGTGATCTGGGGTCTGGGAT CTGGGGTCTGAGGTTTGGGGTCTGGGATCTGGGGTCTGGGGTCTGAGGTC TAGGGATCTGAAGTCTGGGATCTGGGGTCTGGGGTCTGAGATCTGGTGAT CTGGGGTCTGGGATCTGGGGTCTGAGGTCTGGGGTCTGGGATCTGGGGTC TGGGGGTCTGAGGTCTGAGGTCTGGGGTCTGGGTTTTGGGATCTGGGATC TGGGGTCTGAGATCTGGGGTCTGAGATCTGGGGTCTGAGGTCTGGGATCT AGGATCTGGGGTCTGGGATCTTGGGGTCTGGGATCTGGGGTCTGGGGTCT GAGATCTGGGGTCTGAGATCTAGGATCTGGGGTCTGGGATCTGGGGTCTG AGATCTGGGGTCTGGATCTGGGGTCTGAGATCTGGGGTCTGAGGTCTGGG GTCTAGGATCTGGGGTCTGGGATCTTGGGGTCTGGGATCTGGGGTCTGAG ATCTG	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31			chr19	TogoVar
SCNN1D_chr1_1275436_1297025	1284177	T T	TTGGGTGG others(474): Show TTGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGGTGAGGG GGGTGGGGTGGGGGGGTTGGGGGGGGTTGAGTGAGGGGGGTGGGGGGTTG GGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGGGGTTGG GTGAGGGGGGTGGGGTTGGGGGGGGTTGAGTGAGGGGGGTGGGGGGGTTG GGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGGTGAGGGGTT GGGTGAGGGGGTTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTG AGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTGGGTGAGGGGGG TGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGT GGGGTGTTGGGTGAGGGGTTGGGGTTGGGTGAGGGGGGTGGGGTGTTGGG TGAGGGGTTGGGGTTGGGTGAGGGGGGTGGGG	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0160 a0001c0001t0002g0160	1	136	0.0074	481	c.464 others(494): Show c.464+91_464+92insTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGG GGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGGGGGGGTTGAGTGAGGG GGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGG GTGGGGGGGTTGGGTGAGGGGGGTGGGGTTGGGGGGGGTTGAGTGAGGGG GGTGGGGGGGTTGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGT TGGGTGAGGGGTTGGGTGAGGGGGTTGGGGGGGTTGGGTGAGGGGGGTGG GGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGT TGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTT GAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTGGGTGAGGGGG GTGGGGTGTTGGGTGAGGGGTTGGGGTTGGGTGAGGGGGGTGGGGTGGG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SIMC1_chr5_176233424_176350989	176305314	G G	GTGGGGGG others(474): Show GTGGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAG GTGGGGGGGTCAGCCCTCCGCCCGGCCAACCCCCCCGTCTGGGAGGTGAG GGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCC CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGTCAGCCCCCCGCCCGGC CAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCC AGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCCGCCCGG CCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTA CTGGGAAGTGAGGAGCCCCTCTGCCCGGCAGCTGCCCGGTCTGAGAAGTG AGGAGCCTCTCCGCCCGGCAGCCACCCCATCTGGGAAGTGAGGAGCGTCT CCGCCCGGCAGCCACCCCGTCCGGGAGGGAGA	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	194	0.0052	481	c.173 others(500): Show c.1735-8370_1735-8369insGGTCAGCCCCCCGCCTGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCCAACCCCC CCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGT GAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGT CAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGT CAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTC TGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCAGCTG CCCGGTCTGAGAAGTGAGGAGCCTCTCCGCCCGGCAGCCACCCCATCTGG GAAGTGAGGAGCGTCTCCGCCCGGCAGCCACCCCGTCCGGGAGGGAGATG GGGGG	SIMC1	ENSG00000170085.18	transcript	ENST00000429602.7	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
SIMC1_chr5_176233424_176350989	176305314	G G	GTGGGGGG others(474): Show GTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGGTCAGCCCTCCGCCCGGCCAACCCCCCCGTCTGGGAGGTGAG GGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCC CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGTCAGCCCCCCGCCCGGC CAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCC AGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCCGCCCGG CCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTA CTGGGAAGTGAGGAGCCCCTCTGCCCGGCAGCTGCCCGGTCTGAGAAGTG AGGAGCCTCTCCGCCCGGCAGCCACCCCATCTGGGAAGTGAGGAGCGTCT CCGCCCGGCAGCCACCCCGTCCGGGAGGGAGA	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	194	0.0052	481	c.173 others(500): Show c.1735-8370_1735-8369insGTCAGCCCCCCGCCTGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCTCCGCCCGGCCAACCCCC CCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGT GAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGT CAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGT CAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTC TGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCAGCTG CCCGGTCTGAGAAGTGAGGAGCCTCTCCGCCCGGCAGCCACCCCATCTGG GAAGTGAGGAGCGTCTCCGCCCGGCAGCCACCCCGTCCGGGAGGGAGATG GGGGG	SIMC1	ENSG00000170085.18	transcript	ENST00000429602.7	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
SIMC1_chr5_176233424_176350989	176305314	G G	GTGGGGGG others(474): Show GTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGTCAGCCCTCCGCCCGGCCAACCCCCCCGTCTGGGAGGTGAGG GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCC GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGTCAGCCCCCCCGCCCGGC CAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCC AGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCCGCCCGG CCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTA CTGGGAAGTGAGGAGCCCCTCTGCCCGGCAGCTGCCCGGTCTGAGAAGTG AGGAGCCTCTCCGCCCGGCAGCCACCCCATCTGGGAAGTGAGGAGCGTCT CCGCCCGGCAGCCACCCCGTCCGGGAGGGAGA	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	194	0.0052	481	c.173 others(500): Show c.1735-8370_1735-8369insGTCAGCCCCCCGCCTGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCCAACCCCCC CGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTG AGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGTC AGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGT CAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTC TGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCAGCTG CCCGGTCTGAGAAGTGAGGAGCCTCTCCGCCCGGCAGCCACCCCATCTGG GAAGTGAGGAGCGTCTCCGCCCGGCAGCCACCCCGTCCGGGAGGGAGATG GGGGG	SIMC1	ENSG00000170085.18	transcript	ENST00000429602.7	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
SIMC1_chr5_176233424_176350989	176305314	G G	GTGGGGGG others(474): Show GTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGTCAGCCCTCCGCCCGGCCAACCCCCCCGTCTGGGAGGTGAGG GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCC GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGTCAGCCCCCCGCCCGGCC AGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCC AGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCCGCCCGG CCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTA CTGGGAAGTGAGGAGCCCCTCTGCCCGGCAGCTGCCCGGTCTGAGAAGTG AGGAGCCTCTCCGCCCGGCAGCCACCCCATCTGGGAAGTGAGGAGCGTCT CCGCCCGGCAGCCACCCCGTCCGGGAGGGAGA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	194	0.0052	481	c.173 others(500): Show c.1735-8370_1735-8369insGTCAGCCCCCCGCCTGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCCAACCCCCC CGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTG AGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGTC AGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTC AGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGT CAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTC TGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCAGCTG CCCGGTCTGAGAAGTGAGGAGCCTCTCCGCCCGGCAGCCACCCCATCTGG GAAGTGAGGAGCGTCTCCGCCCGGCAGCCACCCCGTCCGGGAGGGAGATG GGGGG	SIMC1	ENSG00000170085.18	transcript	ENST00000429602.7	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
SIMC1_chr5_176233424_176350989	176305314	G G	GTGGGGGG others(474): Show GTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGTCAGCCCTCCGCCCGGCCAACCCCCCCGTCTGGGAGGTGAGG GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCC GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGTCAGCCCCCCGCCCGGCC AGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCCGCCCGGCC AGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCCGCCCGG CCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTA CTGGGAAGTGAGGAGCCCCTCTGCCCGGCAGCTGCCCGGTCTGAGAAGTG AGGAGCCTCTCCGCCCGGCAGCCACCCCATCTGGGAAGTGAGGAGCGTCT CCGCCCGGCAGCCACCCCGTCCGGGAGGGAGA	intron_variant intron_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	194	0.0052	481	c.173 others(500): Show c.1735-8370_1735-8369insGTCAGCCCCCCGCCTGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCCAACCCCCC CGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTG AGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGTC AGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCA GCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGT CAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTC TGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCAGCTG CCCGGTCTGAGAAGTGAGGAGCCTCTCCGCCCGGCAGCCACCCCATCTGG GAAGTGAGGAGCGTCTCCGCCCGGCAGCCACCCCGTCCGGGAGGGAGATG GGGGG	SIMC1	ENSG00000170085.18	transcript	ENST00000429602.7	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
SIMC1_chr5_176233424_176350989	176305314	G G	GTGGGGGG others(474): Show GTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGTCAGCCCTCCGCCCGGCCAACCCCCCCGTCTGGGAGGTGAGG GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCC GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGTCAGCCCCCCGCCCGGCC AGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCA GCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGTCAGCCCCCCCGCCCGG CCAGCCGCCCCGTCCGGAAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTA CTGGGAAGTGAGGAGCCCCTCTGCCCGGCAGCTGCCCGGTCTGAGAAGTG AGGAGCCTCTCCGCCCGGCAGCCACCCCATCTGGGAAGTGAGGAGCGTCT CCGCCCGGCAGCCACCCCGTCCGGGAGGGAGA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	194	0.0052	481	c.173 others(500): Show c.1735-8370_1735-8369insGTCAGCCCCCCGCCTGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCCAACCCCCC CGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTG AGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGTC AGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCA GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGT CAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGAAGGTGAGGGGCGCCTC TGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCAGCTG CCCGGTCTGAGAAGTGAGGAGCCTCTCCGCCCGGCAGCCACCCCATCTGG GAAGTGAGGAGCGTCTCCGCCCGGCAGCCACCCCGTCCGGGAGGGAGATG GGGGG	SIMC1	ENSG00000170085.18	transcript	ENST00000429602.7	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
SIMC1_chr5_176233424_176350989	176305314	G G	GTGGGGGG others(474): Show GTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGTCAGCCCTCCGCCCGGCCAACCCCCCCGTCTGGGAGGTGAGG GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCC GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGTCAGCCCCCCGCCCGGCC AGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCA GCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGTCAGCCCCCCCGCCCGG CCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTA CTGGGAAGTGAGGAGCCCCTCTGCCCGGCAGCTGCCCGGTCTGAGAAGTG AGGAGCCTCTCCGCCCGGCAGCCACCCCATCTGGGAAGTGAGGAGCGTCT CCGCCCGGCAGCCACCCCGTCCGGGAGGGAGA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00621.hp2 HG01258.hp1 others(2): Show HG00597.hp2 HG00621.hp2 HG01258.hp1 HG02071.hp2 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0075 a0001c0001t0001g0080 others(2): Show a0001c0001t0001g0067 a0001c0001t0001g0075 a0001c0001t0001g0080 a0001c0001t0001g0085 a0001c0001t0001g0096	5	198	0.0253	481	c.173 others(500): Show c.1735-8370_1735-8369insGTCAGCCCCCCGCCTGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCCAACCCCCC CGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTG AGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGTC AGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCA GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGT CAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTC TGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCAGCTG CCCGGTCTGAGAAGTGAGGAGCCTCTCCGCCCGGCAGCCACCCCATCTGG GAAGTGAGGAGCGTCTCCGCCCGGCAGCCACCCCGTCCGGGAGGGAGATG GGGGG	SIMC1	ENSG00000170085.18	transcript	ENST00000429602.7	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
SIMC1_chr5_176233424_176350989	176305314	G G	GTGGGGGG others(474): Show GTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGTCAGCCCTCCGCCCGGCCAACCCCCCCGTCTGGGAGGTGAGG GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCC GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGTCAGCCCCCCGCCCGGCC AGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCA GCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCCGCCCGGC CAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTAC TGGGAAGTGAGGAGCCCCCTCTGCCCGGCAGCTGCCCGGTCTGAGAAGTG AGGAGCCTCTCCGCCCGGCAGCCACCCCATCTGGGAAGTGAGGAGCGTCT CCGCCCGGCAGCCACCCCGTCCGGGAGGGAGA	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18994.hp2 NA18979.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0132 a0001c0001t0001g0046 a0001c0001t0001g0132	2	195	0.0103	481	c.173 others(500): Show c.1735-8370_1735-8369insGTCAGCCCCCCGCCTGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCCAACCCCCC CGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTG AGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGTC AGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCA GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTC AGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCT GCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCCTCTGCCCGGCAGCTG CCCGGTCTGAGAAGTGAGGAGCCTCTCCGCCCGGCAGCCACCCCATCTGG GAAGTGAGGAGCGTCTCCGCCCGGCAGCCACCCCGTCCGGGAGGGAGATG GGGGG	SIMC1	ENSG00000170085.18	transcript	ENST00000429602.7	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC16A3_chr17_82224042_82245086	82227685	C C	CACCACCT others(474): Show CACCACCTGCCCTGGGCGGGAGCACCACCTGCCCTGGGCGGGAGCACCAC CTGCCCTGGGCGGGAGCACCACCTGCCCTGGGCGGGAGCACCACCTGCCC TGGGCGGGAGCACCACCTGCCCTGGGCGGGAGCACCACCTGCCCTGGGCG GGAGCACCACCTGCCCTGGGCGGGAGCACCACCTGCCCTGGGCGGGAGCA CCACCTGCCCTGGGCGGGAGCACCACCTGCCCTGGGCGGGAGCACCACCT GCCCTGGGCGGGAGCACCACCTGCCCTGGGCGGGAGCACCACCTGCCCTG GGCGGGAGCACCACCTGCCCTGGGCGGGAGCACCACCTGCCCTGGGCGGG AGCACCACCTGCCCTGGGCGGGAGCACCACCTGCCCTGGGCGGGAGCACC ACCTGCCCTGGGCGGGAGCACCACCTGCCCTGGGCGGGAGCACCACCTGC CCTGGGCGGGAGCACCACCTGCCCTGGGCGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0051 a0001c0003t0002g0051	1	375	0.0027	481	c.-14 others(492): Show c.-1448_-1447insACCACCTGCCCTGGGCGGGAGCACCACCTGCCCT GGGCGGGAGCACCACCTGCCCTGGGCGGGAGCACCACCTGCCCTGGGCGG GAGCACCACCTGCCCTGGGCGGGAGCACCACCTGCCCTGGGCGGGAGCAC CACCTGCCCTGGGCGGGAGCACCACCTGCCCTGGGCGGGAGCACCACCTG CCCTGGGCGGGAGCACCACCTGCCCTGGGCGGGAGCACCACCTGCCCTGG GCGGGAGCACCACCTGCCCTGGGCGGGAGCACCACCTGCCCTGGGCGGGA GCACCACCTGCCCTGGGCGGGAGCACCACCTGCCCTGGGCGGGAGCACCA CCTGCCCTGGGCGGGAGCACCACCTGCCCTGGGCGGGAGCACCACCTGCC CTGGGCGGGAGCACCACCTGCCCTGGGCGGGAGCACCACCTGCCCTGGGC GGGAGCACCACCTGCCCTGGGCGGGAGCACCACCTGCCCTGGGCGGG	SLC16A3	ENSG00000141526.18	transcript	ENST00000582743.6	protein_coding		1356		chr17	TogoVar
SLC22A23_chr6_3263973_3462050	3356090	C C	CGGGGGGC others(474): Show CGGGGGGCGGCAGGGGGGAGGCGGGGGGGCGGGAGGGGAGGAGGCGGGGG GGGCGGGAGGGGGAGGAGGCGGGGGGGCGGCAGGGGGGAGGCGGGGGGGC GGGAGGGGAGGAGGCGGGGGGGCGGGAGGGGGAGGAGGCGGGGGGGCGGG AGGGGGAGGAGGCGGGGGGGCGGGAGGGCGGGAGGGGAGGAGGCGGGGGG GCGGGAGGGGGCCGGAGGGGGAGGAGGCGGGGGGGGCGGGGGGGCGGGAG GGGCGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGGGGAGGCGGGGGGGC GGGAGGGGGCGGGAGGGGAAGGAGGCGGGGGGGGCGGGGGGGAGGGAGGG GAAGGAGGCGGGGGGGGCGGGAGGGGGAGGACGCGGGGGGGGCGGGGGGG GCGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGGGGAGGCGGGAGGGGAA GGAGGCGGGGGGGGGCGGGGGGGGGCGGGAGG	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	25	0.0400	481	c.914 others(500): Show c.914-32089_914-32088insCCTCCCGCCCCCCCCCGCCCCCCCCC GCCTCCTTCCCCTCCCGCCTCCCCCCTCCCGCCCCCCCGCCTCCTCCCCC TCCCGCCCCCCCCGCCCCCCCCGCGTCCTCCCCCTCCCGCCCCCCCCGCC TCCTTCCCCTCCCTCCCCCCCGCCCCCCCCGCCTCCTTCCCCTCCCGCCC CCTCCCGCCCCCCCGCCTCCCCCCTCCCGCCCCCCCGCCTCCTCCCCCTC CCGCCCCTCCCGCCCCCCCGCCCCCCCCGCCTCCTCCCCCTCCGGCCCCC TCCCGCCCCCCCGCCTCCTCCCCTCCCGCCCTCCCGCCCCCCCGCCTCCT CCCCCTCCCGCCCCCCCGCCTCCTCCCCCTCCCGCCCCCCCGCCTCCTCC CCTCCCGCCCCCCCGCCTCCCCCCTGCCGCCCCCCCGCCTCCTCCCCCTC CCGCCCCCCCCGCCTCCTCCCCTCCCGCCCCCCCGCCTCCCCCCTGCCGC CCCCC	SLC22A23	ENSG00000137266.15	transcript	ENST00000406686.8	protein_coding	3/9			chr6	TogoVar
SLC2A8_chr9_127392169_127412898	127408233	C C	CCACTGTA others(474): Show CCACTGTACTCCAGCCTGGGAGACAGAACAAGACCCCAACCCCACCCCCG CAAAAAAAAAAAAAAAAAAAAAAAAAAATTTCAGTTCTATCTTGAAAGAT CTCACTTCCAACACACATGCTGTCTAGCAACACTAAGTAGAGGGGACCAT TCTTCCCAACTCACGGCTGCTTTGTCCACTTCCCAGACCTGCAGCCCCAG CACCTGCCCACCTTGGCATCTCCCATTAAGTCACATAATGAGGGCAGAGA GCAGGGGCCTGTTTTTGCGGACACTTGAAGTACAGCATGGACCAGGCAGA GCAAGGCGCCGGATCAGATCAGTTCCAGAAGATATGCAGCAGCTGCTCTG ATTTCAGTGAAATGTGTGAAACCATGCACAGGACTTTGGACAACTCTCAG CTGTAGCAAATCCAGTTTCCCCTTGGGCCTTCCAGAAGCAGGGTCCTGTC TCCGCGCAGGAGCATCTCCCGTGGCAATGGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00642.hp2 HG00673.hp1 others(20): Show HG00323.hp1 HG00642.hp2 HG00673.hp1 HG01069.hp1 HG01099.hp2 HG01243.hp1 HG01358.hp2 HG02280.hp1 HG02622.hp2 HG02647.hp2 HG02895.hp1 HG03486.hp2 HG03491.hp2 HG03669.hp2 HG03927.hp1 HG04184.hp2 HG04204.hp2 NA18990.hp2 NA18994.hp1 NA19043.hp2 NA19066.hp2 NA19083.hp1 NA19240.hp2	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0002c0006 a0008c0014 a0001c0001 a0002c0006 a0008c0014	a0001c0001t0002 a0001c0001t0006 a0001c0001t0015 others(2): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0015 a0002c0006t0002 a0008c0014t0006	a0001c0001t0002g0001 a0001c0001t0002g0013 a0001c0001t0002g0017 others(11): Show a0001c0001t0002g0001 a0001c0001t0002g0013 a0001c0001t0002g0017 a0001c0001t0002g0031 a0001c0001t0002g0040 a0001c0001t0002g0057 a0001c0001t0002g0060 a0001c0001t0002g0066 a0001c0001t0002g0102 a0001c0001t0006g0059 a0001c0001t0015g0113 a0002c0006t0002g0001 a0002c0006t0002g0019 a0008c0014t0006g0061	23	260	0.0885	481	c.98 others(490): Show c.984_*985insCACTGTACTCCAGCCTGGGAGACAGAACAAGACCCC AACCCCACCCCCGCAAAAAAAAAAAAAAAAAAAAAAAAAAATTTCAGTTC TATCTTGAAAGATCTCACTTCCAACACACATGCTGTCTAGCAACACTAAG TAGAGGGGACCATTCTTCCCAACTCACGGCTGCTTTGTCCACTTCCCAGA CCTGCAGCCCCAGCACCTGCCCACCTTGGCATCTCCCATTAAGTCACATA ATGAGGGCAGAGAGCAGGGGCCTGTTTTTGCGGACACTTGAAGTACAGCA TGGACCAGGCAGAGCAAGGCGCCGGATCAGATCAGTTCCAGAAGATATGC AGCAGCTGCTCTGATTTCAGTGAAATGTGTGAAACCATGCACAGGACTTT GGACAACTCTCAGCTGTAGCAAATCCAGTTTCCCCTTGGGCCTTCCAGAA GCAGGGTCCTGTCTCCGCGCAGGAGCATCTCCCGTGGCAATGGCT	SLC2A8	ENSG00000136856.18	transcript	ENST00000373371.8	protein_coding		336		chr9	TogoVar
SLC2A8_chr9_127392169_127412898	127408233	C C	CCACTGTA others(474): Show CCACTGTACTCCAGCCTGGGAGACAGAACAAGACCCCAACCCCACCCCCG CAAAAAAAAAAAAAAAAAAAAAAAAAGATTTCAGTTCTATCTTGAAAGAT CTCACTTCCAACACACATGCTGTCTAGCAACACTAAGTAGAGGGGACCAT TCTTCCCAACTCACGGCTGCTTTGTCCACTTCCCAGACCTGCAGCCCCAG CACCTGCCCACCTTGGCATCTCCCATTAAGTCACATAATGAGGGCAGAGA GCAGGGGCCTGTTTTTGCGGACACTTGAAGTACAGCATGGACCAGGCAGA GCAAGGCGCCGGATCAGATCAGTTCCAGAAGATATGCAGCAGCTGCTCTG ATTTCAGTGAAATGTGTGAAACCATGCACAGGACTTTGGACAACTCTCAG CTGTAGCAAATCCAGTTTCCCCTTGGGCCTTCCAGAAGCAGGGTCCTGTC TCCACGCAGGAGCATCTCCCGTGGCAATGGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG01106.hp1 HG01256.hp2 others(17): Show HG00733.hp2 HG01106.hp1 HG01256.hp2 HG01257.hp2 HG01346.hp1 HG01361.hp1 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG02273.hp1 HG02300.hp1 HG02300.hp2 NA18944.hp2 NA18978.hp2 NA18983.hp2 NA18989.hp2 NA19000.hp2 NA19001.hp2 NA19088.hp1 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0001 a0001c0002t0001 a0001c0003t0001	a0001c0002t0001g0002 a0001c0002t0001g0009 a0001c0002t0001g0043 others(7): Show a0001c0002t0001g0002 a0001c0002t0001g0009 a0001c0002t0001g0043 a0001c0002t0001g0070 a0001c0002t0001g0099 a0001c0003t0001g0002 a0001c0003t0001g0010 a0001c0003t0001g0015 a0001c0003t0001g0034 a0001c0003t0001g0100	20	257	0.0778	481	c.98 others(490): Show c.984_*985insCACTGTACTCCAGCCTGGGAGACAGAACAAGACCCC AACCCCACCCCCGCAAAAAAAAAAAAAAAAAAAAAAAAAGATTTCAGTTC TATCTTGAAAGATCTCACTTCCAACACACATGCTGTCTAGCAACACTAAG TAGAGGGGACCATTCTTCCCAACTCACGGCTGCTTTGTCCACTTCCCAGA CCTGCAGCCCCAGCACCTGCCCACCTTGGCATCTCCCATTAAGTCACATA ATGAGGGCAGAGAGCAGGGGCCTGTTTTTGCGGACACTTGAAGTACAGCA TGGACCAGGCAGAGCAAGGCGCCGGATCAGATCAGTTCCAGAAGATATGC AGCAGCTGCTCTGATTTCAGTGAAATGTGTGAAACCATGCACAGGACTTT GGACAACTCTCAGCTGTAGCAAATCCAGTTTCCCCTTGGGCCTTCCAGAA GCAGGGTCCTGTCTCCACGCAGGAGCATCTCCCGTGGCAATGGCT	SLC2A8	ENSG00000136856.18	transcript	ENST00000373371.8	protein_coding		336		chr9	TogoVar
SNTG2_chr2_945849_1372613	1013735	T T	TGGGCAGA others(474): Show TGGGCAGAGAGAAGGGTGGTCTGGAGAAGGATTTATAAGGGCAGAGAGAA GGGTGGTCTGGAGAGGGATTTATAAGGGCAGAGAGAAGGGTGGTCTGTAG AGGGATTTATATGGGCAGAGAGAAGGGTGGTCTGGAGAGGGATTTATATG GGCAGAGAGAAGGGTGGTCTGGAGAGGGATTTATAAGGGCAGAGAGAAGG GTGGTCTGTAGAGGGATTTATATGGACAGAGAGAAGGGTGGTCTGGAGAG GGATTTATATGGGCAGAGAGAAGGGTGGTCTGGAGAAGGATTTATAAGGG CAGAGAGAAGGGTGGTCTGGAGAGGGATTTATAAGGGCAGAGAGAAGGGT GGTCTGTAGAGGGATTTATATGGGCAGAGAGAAGGGTGGTCTGGAGAGGG ATTTATATGGGCAGAGAGAAGGGTGGTCTGGAGAGGGATTTATATGGGCA GAGAGAAGGGTGGTCTGTAGAGGGATTTATAA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0150 a0004c0004t0001g0150	1	187	0.0053	481	c.72+ others(498): Show c.72+62689_72+62690insGAGAAGGATTTATAAGGGCAGAGAGAAG GGTGGTCTGGAGAGGGATTTATAAGGGCAGAGAGAAGGGTGGTCTGTAGA GGGATTTATATGGGCAGAGAGAAGGGTGGTCTGGAGAGGGATTTATATGG GCAGAGAGAAGGGTGGTCTGGAGAGGGATTTATAAGGGCAGAGAGAAGGG TGGTCTGTAGAGGGATTTATATGGACAGAGAGAAGGGTGGTCTGGAGAGG GATTTATATGGGCAGAGAGAAGGGTGGTCTGGAGAAGGATTTATAAGGGC AGAGAGAAGGGTGGTCTGGAGAGGGATTTATAAGGGCAGAGAGAAGGGTG GTCTGTAGAGGGATTTATATGGGCAGAGAGAAGGGTGGTCTGGAGAGGGA TTTATATGGGCAGAGAGAAGGGTGGTCTGGAGAGGGATTTATATGGGCAG AGAGAAGGGTGGTCTGTAGAGGGATTTATAAGGGCAGAGAGAAGGGTGGT CTG	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1013809	T T	TGGGCAGA others(474): Show TGGGCAGAGAGAAGGGTGGTCTGTAGAGGGATTTATATGGGCAGAGAGAA GGGTGGTCTGGAGAAGGATTTATATGGGCAGAGAGAAGGGTGGTCTGGAG AGGGATTTATAAGGGCAGAGAGAAGGGTGGTCTGGAGAAGGATTTATATG GGCAGAGAGAAGGGTGGTCTGTAGAGGGATTTATAAGGACAGAGAGAAGG GTGGTCTGGAGAAGGATTTATATGGGCAGAGAGAAGGGTGGTCTGTAGAG GGATTTATAAGGACAGAGAGAAGGGTGGTCTGGAGAAGGATTTATATGGG CAGAGAGAAGGGTGGTCTGTAGAGGGATTTATAAGGGCAGAGAGAAGGGT GGTCTGGAGAAGGATTTATATGGGCAGAGAGAAGAGTGGTCTGTAGAGGG ATTTATAAGGGCAGAGAGAAGGGTGGTCTGGAGAAGGATTTATATGGGCA GAGAGAAGGGTGGTCTGTAGAGGGATTTATAA	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	188	0.0053	481	c.72+ others(498): Show c.72+62763_72+62764insTAGAGGGATTTATATGGGCAGAGAGAAG GGTGGTCTGGAGAAGGATTTATATGGGCAGAGAGAAGGGTGGTCTGGAGA GGGATTTATAAGGGCAGAGAGAAGGGTGGTCTGGAGAAGGATTTATATGG GCAGAGAGAAGGGTGGTCTGTAGAGGGATTTATAAGGACAGAGAGAAGGG TGGTCTGGAGAAGGATTTATATGGGCAGAGAGAAGGGTGGTCTGTAGAGG GATTTATAAGGACAGAGAGAAGGGTGGTCTGGAGAAGGATTTATATGGGC AGAGAGAAGGGTGGTCTGTAGAGGGATTTATAAGGGCAGAGAGAAGGGTG GTCTGGAGAAGGATTTATATGGGCAGAGAGAAGAGTGGTCTGTAGAGGGA TTTATAAGGGCAGAGAGAAGGGTGGTCTGGAGAAGGATTTATATGGGCAG AGAGAAGGGTGGTCTGTAGAGGGATTTATAAGGGCAGAGAGAAGGGTGGT CTG	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1235508	A A	AGGGGGCG others(474): Show AGGGGGCGCCCCTACCCCATGCTGCCCTGAGGTCCCTGCAGGCCCCACCA GGCACACCCTATTCATGAGAGGGGGGCCCCTGCCCCACGCTGCCCTGAGG TCCCTGCAGTCCCCACCAGGCACCCCCGATTCATGAGAGGGGGGACCCCT GCCCCACGCTGCCCTGAGGTCCCTGCAGTCCCCACCAGGCACCCCCGATT CATGAGAGGGGGCGCCCCTACCCCGTGCTGCCCTGAGGTCCCTGCAGGCC CCACCAGGCACACCCTATTCATGAGAGGGGGCGCCCCTACCCCATGCTGC CCTGAGGTCCCTGCAGGCCCCACCAGGCACACCCTATTCATGAGAGGGGG GCCCCTGCCCCACGCTGCCCTGAGGTCCCTGCAGGCCCCACCAGGCACAC CCTATTCATGAGAGGGGGGCCCCTGCCCCACGCTGCCCTGAGGTCCCTGC AGGCCCCACCAGGCACCCCCGATTCATGAGAG	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0184 a0003c0007t0001g0184	1	184	0.0054	481	c.720 others(498): Show c.720-2375_720-2374insCGCCCCTACCCCATGCTGCCCTGAGGTC CCTGCAGGCCCCACCAGGCACACCCTATTCATGAGAGGGGGGCCCCTGCC CCACGCTGCCCTGAGGTCCCTGCAGTCCCCACCAGGCACCCCCGATTCAT GAGAGGGGGGACCCCTGCCCCACGCTGCCCTGAGGTCCCTGCAGTCCCCA CCAGGCACCCCCGATTCATGAGAGGGGGCGCCCCTACCCCGTGCTGCCCT GAGGTCCCTGCAGGCCCCACCAGGCACACCCTATTCATGAGAGGGGGCGC CCCTACCCCATGCTGCCCTGAGGTCCCTGCAGGCCCCACCAGGCACACCC TATTCATGAGAGGGGGGCCCCTGCCCCACGCTGCCCTGAGGTCCCTGCAG GCCCCACCAGGCACACCCTATTCATGAGAGGGGGGCCCCTGCCCCACGCT GCCCTGAGGTCCCTGCAGGCCCCACCAGGCACCCCCGATTCATGAGAGGG GGG	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SORCS2_chr4_7187538_7747827	7449237	C C	CCCTCCCT others(474): Show CCCTCCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCC CTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCT TCCTCCCTCTCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCTTTTC CCTCTCTCCCTCCCTTCCTGTCTTTTCCCTCTCTCCCTCCCTTCCTCTTT TCCCTCTCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCTC CCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCTCCCTCCC TCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCTC CCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCC TCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTC CCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0058	a0001c0001t0058g0161 a0001c0001t0058g0161	1	152	0.0066	481	c.548 others(500): Show c.548+52889_548+52890insTCCTCCCTCCCTCCCTCCCTTCCTCC CTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCT CCCTTCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCTCCCTCCCTCCCTCC CTCCCTTCCTCTTTTCCCTCTCTCCCTCCCTTCCTGTCTTTTCCCTCTCT CCCTCCCTTCCTCTTTTCCCTCTCTTCCTCCCTCCCTCCCTCCCTTCCTC CCTCTCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCTC TTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTC CCTCTCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCC TTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTT CCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTTCC TCCCT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(474): Show AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGG GGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGG GGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGG AGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGG AGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGG GGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0126 a0003c0003t0001g0126	1	6	0.1667	481	c.138 others(500): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTC CCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTC CCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCC TCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
SYT2_chr1_202585596_202715454	202672778	G G	GGAGGGAG others(474): Show GGAGGGAGGGGGAGAGAGAGGGGGAGGGGGAGAGAGGGGGGAGGGGGAGA GAGGGGGGAGGGGGAGAGAGGGGGGAGGGAGAGAGAGAAGGGGAGGCGGA GAGGGAGGGAGGGGGAGAGAGAGAGGGAGGGGGGGGGAGAGAGAGGGAGG GAGGGAGGGGGAGAGAGAGGGGGAGGGGGAGAGAGGGGGGAGGGGGAGAG AGGGGGGAGGGGGAGAGAGGGGGGAGGGAGAGAGAGAAGGGGAGGCGGAG AGGGAGGGAGGGGGAGAGAGAGAGGGAGGGAGGGGGGGAGAGAGAGGGGG AGGGAGGGGGGAGAGAGGGGGGGGAGGGAGGGGGGAGGGGGGGAGAGAGA GGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGGGGAGAGAGGGGGAGGGA GGGGGGAGAGAGGGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGAGGGAGG GGGAGGGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0064 a0001c0001t0002g0064	1	108	0.0093	481	c.-18 others(500): Show c.-18+37479_-18+37480insTCTCTCTCTCTCTCTCTCTCTCTCTC CCTCCCCCTCCCTCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCCCTCTCT CCCCCCTCCCTCCCCCTCTCTCCCCCCTCCCCCTCTCTCTCCCCCCTCCC TCCCCCTCTCTCTCCCCCCCTCCCCCCTCCCTCCCCCCCCTCTCTCCCCC CTCCCTCCCCCTCTCTCTCCCCCCCTCCCTCCCTCTCTCTCTCCCCCTCC CTCCCTCTCCGCCTCCCCTTCTCTCTCTCCCTCCCCCCTCTCTCCCCCTC CCCCCTCTCTCCCCCTCCCCCCTCTCTCCCCCTCCCCCTCTCTCTCCCCC TCCCTCCCTCCCTCTCTCTCCCCCCCCCTCCCTCTCTCTCTCCCCCTCCC TCCCTCTCCGCCTCCCCTTCTCTCTCTCCCTCCCCCCTCTCTCCCCCTCC CCCCTCTCTCCCCCTCCCCCCTCTCTCCCCCTCCCCCTCTCTCTCCCCCT CCCTC	SYT2	ENSG00000143858.12	transcript	ENST00000367268.5	protein_coding	1/8			chr1	TogoVar
TBC1D22A_chr22_46757650_47180693	46772471	A A	ATGTATAC others(474): Show ATGTATACACACATATACATATATATGTATACACACATATACATATATAT GTATACACACATATACATATATATGTATACACACATATACATATATATGT ATACACACATATACATATATATGTATACACACATATACATATATATGTAT ACACACATATACATATATATGTATACACACATATACATATATATGTATAC ACACATATACATATATATGTATACACACATATACATATATATGTATACAC ACATATACATATATATGTATACACACATATACATATATATGTATACACAC ATATACATATATATGTATACACACATATACATATATATGTATACACACAT ATACATATATATGTATACACACATATACATATATATGTATACACACATAT ACATATATATGTATACACACATATACATATATATGTATACACACATATAC ATATATATGTATACACACATATACATATATAT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	10	0.1000	481	c.62+ others(496): Show c.62+9623_62+9624insTGTATACACACATATACATATATATGTATA CACACATATACATATATATGTATACACACATATACATATATATGTATACA CACATATACATATATATGTATACACACATATACATATATATGTATACACA CATATACATATATATGTATACACACATATACATATATATGTATACACACA TATACATATATATGTATACACACATATACATATATATGTATACACACATA TACATATATATGTATACACACATATACATATATATGTATACACACATATA CATATATATGTATACACACATATACATATATATGTATACACACATATACA TATATATGTATACACACATATACATATATATGTATACACACATATACATA TATATGTATACACACATATACATATATATGTATACACACATATACATATA TATGTATACACACATATACATATATATGTATACACACATATACATATATA T	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	1/12			chr22	TogoVar
TH_chr11_2158929_2176815	2161578	A A	AGACCCCT others(474): Show AGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCACACCCC TGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTATCCCCA GACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTA TCCCCAGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCAC ACCCCTGTCCCCGGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTG TCCCCACACCCCTGTCCCCACACCCCCTGTCCCCACACCCTGTCCCCGGG ACCCCTGTCCCCACACCCCTGTCCCACACCCCTGTCCCCAGACCCCTGTC CCAGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACC CCTGTCCCCACACCCCTGTCCCCGGGGACCCCTGTCCCCACACCCTGTCC CCACACCCCTGTCCCCACACCCCTGTCCCCGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0007 a0001c0002t0001g0007	1	206	0.0049	481	c.26 others(492): Show c.2654_*2655insCCGGGGACAGGGGTGTGGGGACAGGGGTGTGGGG ACAGGGTGTGGGGACAGGGGTCCCCGGGGACAGGGGTGTGGGGACAGGGG TGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGA CAGGGGTCTGGGGACAGGGGTGTGGGACAGGGGTGTGGGGACAGGGGTCC CGGGGACAGGGTGTGGGGACAGGGGGTGTGGGGACAGGGGTGTGGGGACA GGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCCCGGGGACAGGGGTGT GGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTCTGGGGATA GGGGTGTGGGGACAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTCTG GGGATAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGG GGTGTGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTC	TH	ENSG00000180176.15	transcript	ENST00000352909.8	protein_coding		2350		chr11	TogoVar
TMPRSS2_chr21_41459305_41513158	41474314	A A	AGTGAGGA others(474): Show AGTGAGGAGGTGAGGGGGTGAGTGAGGAGGTGAGGGGGTGAGTGAGGAGG TGAGGGGGTGAGTGAGGAGGTGAGGGGGTGAGTGAGGGGGTGAGGGGGTG AGTGAGGGGGTGAGGGGGTGAGGGAGTGAGTGAGGGGGGTGGGTGAGGAG GTGAGGGGGTGAGTGAGGAGGTGAGGGGGTGAGTGAGGGGGTGAGGGGGT GAGGGAGTGAGTGAGGGGGTGGGTGAGGAGGTGAGGGGGTGAGTGAGGAG GTGAGGGGGTGAGTGAGGGGGTGAGGGGGTGAGGGAGTGAGTGAGGGGGT GGGTGAGGAGGTGAGGGGGTGAGTGAGGAGGTGAGGGGGTGAGTGAGGGG GTGAGGGGGTGAGGGAGTGAGTGAGGGGGTGGGTGAGGAGGTGAGGGGGT GAGTGAGGAGGTGAGGGGGTGAGTGAGGAGGTGAGGGGGTGAGTGAGGGG GTGAGGGGGTGAGGGAGTGAGTGAGGGGGTGG	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0014 a0002c0005t0001g0014	1	360	0.0028	481	c.728 others(496): Show c.728-819_728-818insCCACCCCCTCACTCACTCCCTCACCCCCTC ACCCCCTCACTCACCCCCTCACCTCCTCACTCACCCCCTCACCTCCTCAC TCACCCCCTCACCTCCTCACCCACCCCCTCACTCACTCCCTCACCCCCTC ACCCCCTCACTCACCCCCTCACCTCCTCACTCACCCCCTCACCTCCTCAC CCACCCCCTCACTCACTCCCTCACCCCCTCACCCCCTCACTCACCCCCTC ACCTCCTCACTCACCCCCTCACCTCCTCACCCACCCCCTCACTCACTCCC TCACCCCCTCACCCCCTCACTCACCCCCTCACCTCCTCACTCACCCCCTC ACCTCCTCACCCACCCCCCTCACTCACTCCCTCACCCCCTCACCCCCTCA CTCACCCCCTCACCCCCTCACTCACCCCCTCACCTCCTCACTCACCCCCT CACCTCCTCACTCACCCCCTCACCTCCTCACTCACCCCCTCACCTCCTCA C	TMPRSS2	ENSG00000184012.14	transcript	ENST00000332149.10	protein_coding	8/13			chr21	TogoVar
TRAF6_chr11_36478769_36515272	36507363	C C	CATACGTA others(474): Show CATACGTAAATGTATATATGTATATATACATGTATTATACATACGTAAAT GTATATATGTATATATACATGTATTATACATACGTAAATGTATATATGTA TATATACATGTATTATACATACGTAAATGTATATATGTATATATACATGT ATTATACATACGTAAATGTATATATGTATATATACATGTATTATACATAC GTAAATGTATATATGTATATATACATTATACATACGTAAATGTATATATG TATATATACATTATACATACGTAAATGTATAATGTATATATACATTATAC ATACGTAAATGTATAATGTATATATACATTATACATACGTAAATGTATAA TGTATATATACATTATACATACGTAAATGTATAATGTATATATACATTAT ACATACGTAAATGTATAATGTATATATACATTATACATACGTAAATGTAT GTATATATACATTATACATACGTAAATGTATT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	365	0.0027	481	c.-23 others(498): Show c.-23+2684_-23+2685insAATACATTTACGTATGTATAATGTATAT ATACATACATTTACGTATGTATAATGTATATATACATTATACATTTACGT ATGTATAATGTATATATACATTATACATTTACGTATGTATAATGTATATA TACATTATACATTTACGTATGTATAATGTATATATACATTATACATTTAC GTATGTATAATGTATATATACATTATACATTTACGTATGTATAATGTATA TATACATATATACATTTACGTATGTATAATGTATATATACATATATACAT TTACGTATGTATAATACATGTATATATACATATATACATTTACGTATGTA TAATACATGTATATATACATATATACATTTACGTATGTATAATACATGTA TATATACATATATACATTTACGTATGTATAATACATGTATATATACATAT ATACATTTACGTATGTATAATACATGTATATATACATATATACATTTACG TAT	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TRIM49D1_chr11_89906409_89927245	89909183	T T	TAAATATT others(474): Show TAAATATTTGTATATTTATATTTTATATGAAATATAAATATTTGTATATT TATATTTTATATGAAATATAAATATTTGTATATTTATATTTTATATGAAA TATAAATATTTGTATATTTATATTTTATATGAAATATAAATATTTGTATA TTTATATTTTATATGAAATATAAATATTTGTATATTTATATTTTATATGA AATATAAATATTTGTATATTTATATTTTATATGAAATATAAATATTTGTA TATTTATATTTTATATGAAATATAAATATTTGTATATTTATATTTTATAT GAAATATAAATATTTGTATATTATATATTTTATGTGAAATATAAATATAT AAATATTTGTATATTATATATTTTATATAAAATATATAATATATAAATAT TTGTATATTATATATTTTATATAAAATATATAATATACAAATATTTGTAT ATTATATATTTTATATAAAATATATAATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0001 a0002c0012t0001	a0002c0012t0001g0038 a0002c0012t0001g0038	1	200	0.0050	481	c.24 others(492): Show c.2403_*2404insGTATATTATATATTTTATATAAAATATATAATAT ACAAATATTTGTATATTATATATTTTATATAAAATATATAATATACAAAT ATTTATATATTATATATTTTATATAAAATATATAATATACAAATATTTAT ATATTTATATTTCACATAAAATATATAATATACAAATATTTATATTTCAT ATAAAATATAAATATACAAATATTTATATTTCATATAAAATATAAATATA CAAATATTTATATTTCATATAAAATATAAATATACAAATATTTATATTTC ATATAAAATATAAATATACAAATATTTATATTTCATATAAAATATAAATA TACAAATATTTATATTTCATATAAAATATAAATATACAAATATTTATATT TCATATAAAATATAAATATACAAATATTTATATTTCATATAAAATATAAA TATACAAATATTTATATTTCATATAAAATATAAATATACAAATATTT	TRIM49D1	ENSG00000223417.9	transcript	ENST00000420869.3	protein_coding		2225		chr11	TogoVar
TRIML1_chr4_188134441_188152743	188151445	G G	GAGGGTGA others(474): Show GAGGGTGAGAAGGGGAGTGAGAGTGGGGGGTGAGAAGGGAGTGAGAGAGG GGTTGAGAAGGGGAGTGAGAGTGGGGATGAGAAGAGGAATGAGAGTGGGG GTGAGAAGGGGAATGAGAGTGGGGGTGAGAAGGGGGAGTGAGAGTGGGGG TGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGCTG AGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGTTGAG AAGGGGAGTGAGAGAGGGGTTGAGAAGGGGAGTGAGAGTGGGGGTGAGAA GAGGAATGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGTGGTGAGAAGG GGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGCTGAGAAGGGG AGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGAGGGGGTTGAGAAGGGGA TTGAGAGAGAGGGTGAGAAGGGGAGTGAGAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0152 a0001c0003t0002g0152	1	209	0.0048	481	c.40 others(492): Show c.4073_*4074insAGGGTGAGAAGGGGAGTGAGAGTGGGGGGTGAGA AGGGAGTGAGAGAGGGGTTGAGAAGGGGAGTGAGAGTGGGGATGAGAAGA GGAATGAGAGTGGGGGTGAGAAGGGGAATGAGAGTGGGGGTGAGAAGGGG GAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGA GTGAGAGTGGGGCTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGT GAGAGTGGGGTTGAGAAGGGGAGTGAGAGAGGGGTTGAGAAGGGGAGTGA GAGTGGGGGTGAGAAGAGGAATGAGAGTGGGGGTGAGAAGGGGAGTGAGA GTGGTGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGT GGGGCTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGAGG GGGTTGAGAAGGGGATTGAGAGAGAGGGTGAGAAGGGGAGTGAGAAT	TRIML1	ENSG00000184108.8	transcript	ENST00000332517.4	protein_coding		3703		chr4	TogoVar
TTC16_chr9_127711079_127736590	127720831	T T	TTCCCCCT others(474): Show TTCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCCTTCCTCCGTCCCCCT TCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTCCCTCC TCCCTTCCCCCTTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCT TCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCC TTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCC CTTCCCCCTTCCCCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCC TCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTT CCCCCTTTCTCCCTTATCCCTCCTCCCTTCCCCCTTCCTCCCTTCCCCCT TCCACCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTC TCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0017 a0017	a0017c0015 a0017c0015	a0017c0015t0002 a0017c0015t0002	a0017c0015t0002g0171 a0017c0015t0002g0171	1	8	0.1250	481	c.657 others(496): Show c.657+440_657+441insCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC TTCCTCCGTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTC TTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTTCCTCCCTCCCCCCT TCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTTCC CTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCCCC CTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCTTCCTCCCTTCCTCTTC TTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTT CCCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCCCCT TCCTCCCTTCCCCCTTCCACCCTTCCCCCTTACCCCCTTCCTCTCTTCCT CCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTCTCC C	TTC16	ENSG00000167094.16	transcript	ENST00000373289.4	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
TTLL8_chr22_50013575_50063298	50028667	C C	CCCCACAC others(474): Show CCCCACACACACTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCACA CACACTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCACACACCCTC GTAAAGACCCCATCACACCATCCTGAAGACCCCCACACACACTCGTAAAG ACCCCCATCACACCGTCCTGAAGACCCCACACACACTCGTAAAGACCCCC GTCATACCATCCTGAAGACCCCACACACCCTCGTAAAGACCCCCATCATA CCATCCTAAAGACCCCCACACACACTCGTAAAGACCCCATCACACCGTCC TGAAGACCCACACATACCCTCGTAAAGACCCCATCACACCATCCTAAAGA CCCCCACACACACTCGTAAAGACCCCATCACACCATCCTGAAGACCCCCA CACACACTCGTAAAGACCCCCATCACACCGTCCTGAAGACCCCACACACA CTCGTAAAGACCCCATCACACCGTCCTGAAGA	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0160 a0003c0003t0002g0160	1	192	0.0052	481	c.225 others(500): Show c.2251+1762_2251+1763insTCTTCAGGACGGTGTGATGGGGTCTT TACGAGTGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGGTCTTTACGAG TGTGTGTGGGGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAGTGTGTG TGGGGGTCTTTAGGATGGTGTGATGGGGTCTTTACGAGGGTATGTGTGGG TCTTCAGGACGGTGTGATGGGGTCTTTACGAGTGTGTGTGGGGGTCTTTA GGATGGTATGATGGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGATGG TATGACGGGGGTCTTTACGAGTGTGTGTGGGGTCTTCAGGACGGTGTGAT GGGGGTCTTTACGAGTGTGTGTGGGGGTCTTCAGGATGGTGTGATGGGGT CTTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACG AGTGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGTGTGT GTGGG	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
TWIST2_chr2_238843085_238915534	238870354	C C	CCCCCCAC others(474): Show CCCCCCACACCACACCCCATACACACCACACACCACACCCCACACACACC ACACCCCACACACACCACACCCCACACACACCACACACCCCACACACACC ACACCCCACACACACCACACACCCCCCACACACCACACCCCATACACACC ACACACCACACCCCACACACACCACACCCCACACACACCACACCCCACAC ACACCACACACCCCCCACACACCACACCCCACACACACCACACACCCCCC ACACACCACACACCATACACACCACACCCCACACACACCACACCCCCCAC ACACCACACCCCACACACCACACCCCACACACACCACACACCACACACAC CACACCCCATACACACCACACCCCATACACACCACACCCCACACACACCA CACCCCACACACCACACACCCCACACACACCACACCCCACACACACCACA CCCCACACACACCACACCCCCCACACACCACA	intron_variant intron_variant	MODIFIER	HG00438.hp1 NA18950.hp2 HG00438.hp1 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0280 a0001c0001t0001g0060 a0001c0001t0001g0280	2	228	0.0088	481	c.35 others(500): Show c.35+21623_*35+21624insCCCACACCACACCCCATACACACCAC ACACCACACCCCACACACACCACACCCCACACACACCACACCCCACACAC ACCACACACCCCACACACACCACACCCCACACACACCACACACCCCCCAC ACACCACACCCCATACACACCACACACCACACCCCACACACACCACACCC CACACACACCACACCCCACACACACCACACACCCCCCACACACCACACCC CACACACACCACACACCCCCCACACACCACACACCATACACACCACACCC CACACACACCACACCCCCCACACACCACACCCCACACACCACACCCCACA CACACCACACACCACACACACCACACCCCATACACACCACACCCCATACA CACCACACCCCACACACACCACACCCCACACACCACACACCCCACACACA CCACACCCCACACACACCACACCCCACACACACCACACCCCCCACACACC ACACC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
UMAD1_chr7_7635752_7884223	7679038	T T	TATAAATA others(474): Show TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTT TATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATATTT AGTTTATAAATACATATTTATATATTTAATTTATAGATAAATATATATTT ATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGAT AAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATT TAATTTATAGATAAATATATTTATATATTTAATTTATAGATAAATATATA TTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATA GATAAATATATATTTATATATTTAGTTTATAG	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0071 a0001c0001t0007g0071	1	159	0.0063	481	c.82+ others(496): Show c.82+5590_82+5591insTATATATTTATTTAGTTTATAAATATATAT TTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATATATAT TTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATACATAT TTACATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATAC ATATTTATATATTTAGTTTATAAATACATATTTATATATTTAATTTATAG ATAAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATA TTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATA TATATTTATATATTTAATTTATAGATAAATATATTTATATATTTAATTTA TAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTAT ATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAA A	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7679065	T T	TATAAATA others(474): Show TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTT TATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATATTT AGTTTATAAATACATATTTATATATTTAATTTATAGATAAATATATATTT ATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGAT AAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATT TAATTTATAGATAAATATATTTATATATTTAATTTATAGATAAATATATA TTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATA GATAAATATATATTTATATATTTAGTTTATAG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03453.hp2 HG02280.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0021 a0001c0001t0002 a0001c0001t0021	a0001c0001t0002g0015 a0001c0001t0021g0027 a0001c0001t0002g0015 a0001c0001t0021g0027	2	142	0.0141	481	c.82+ others(496): Show c.82+5617_82+5618insTATATATTTATTTAGTTTATAAATATATAT TTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATATATAT TTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATACATAT TTACATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATAC ATATTTATATATTTAGTTTATAAATACATATTTATATATTTAATTTATAG ATAAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATA TTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATA TATATTTATATATTTAATTTATAGATAAATATATTTATATATTTAATTTA TAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTAT ATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAA A	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7679092	T T	TATAAATA others(474): Show TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTT TATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATATTT AGTTTATAAATACATATTTATATATTTAATTTATAGATAAATATATATTT ATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGAT AAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATT TAATTTATAGATAAATATATTTATATATTTAATTTATAGATAAATATATA TTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATA GATAAATATATATTTATATATTTAGTTTATAG	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA19005.hp1 NA19011.hp2 NA18985.hp2 NA19005.hp1 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0010 a0001c0001t0002g0083 a0001c0001t0005g0011 a0001c0001t0001g0010 a0001c0001t0002g0083 a0001c0001t0005g0011	3	107	0.0280	481	c.82+ others(496): Show c.82+5644_82+5645insTATATATTTATTTAGTTTATAAATATATAT TTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATATATAT TTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATACATAT TTACATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATAC ATATTTATATATTTAGTTTATAAATACATATTTATATATTTAATTTATAG ATAAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATA TTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATA TATATTTATATATTTAATTTATAGATAAATATATTTATATATTTAATTTA TAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTAT ATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAA A	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
VCX3B_chrX_8459830_8471510	8467180	T T	TGTGGGGA others(474): Show TGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAG GAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGG GGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTG GTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGG GAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGG GAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAG GTGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGG AGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGG GAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAG GTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0003 a0001c0001t0023g0003	1	209	0.0048	481	c.79 others(490): Show c.797_*798insGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTG GGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAG AGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAG GGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGG GGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGA GGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGG GAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTG TGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGA GGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGG GAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTG	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		671		chrX	TogoVar

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