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
OSGIN1_chr16_83948240_83971332	83950850	T T	TACTGGCA others(355): Show TACTGGCACACACGTACATGCACACATGAGCACATGTGCACACATGCACA TACATACTGGCACACACGTACATGCACACATGAGCACATGTGCACACATG CACATACATACCGGCACACGTACACACATGCACACATGAACACATGTGCA CACGTACACACACATGCACACATGAGCACATGTGCACACATGCACATACA TACTGGCACACACGTACATGCACACATGAGCACATGTGCACACATGCACA TACATACTGGCACACGTACACACACGCACACATGAGCACATGTGCACACA TGCACATACATACTGGCACACGTACACGCACACATGAGCACATGTGCACA CATGCACATACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG01175.hp2 HG01346.hp2 HG01167.hp2 HG01175.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0100 a0001c0001t0001g0104 a0001c0001t0006g0001 a0001c0001t0001g0100 a0001c0001t0001g0104 a0001c0001t0006g0001	3	350	0.0086	362	c.-25 others(373): Show c.-2553_-2552insACTGGCACACACGTACATGCACACATGAGCACAT GTGCACACATGCACATACATACTGGCACACACGTACATGCACACATGAGC ACATGTGCACACATGCACATACATACCGGCACACGTACACACATGCACAC ATGAACACATGTGCACACGTACACACACATGCACACATGAGCACATGTGC ACACATGCACATACATACTGGCACACACGTACATGCACACATGAGCACAT GTGCACACATGCACATACATACTGGCACACGTACACACACGCACACATGA GCACATGTGCACACATGCACATACATACTGGCACACGTACACGCACACAT GAGCACATGTGCACACATGCACATACAC	OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding		2389		chr16	TogoVar
PCBP3_chr21_45638725_45947450	45746666	C C	CACACGGT others(355): Show CACACGGTGGTGTCAGCATCGCCGTGTCAGTCCACTGACGTAGCGCACAC GGTGGTGTCAGCATCGCCGTGTCAGTCCACTGACGTAGCGCACACGGTGG TGTCAGCATCGCCGTGTCAGTCCACTGACGTAGCGCACACGGTGGTGTCA GCATCGCCGTGTCAGTCCACTGACGTAGCGCACACGGTGGTGTCAGCATC GCCGTGTCAGTCCACTGACGTAGCGCACACGGTGGTGTCAGCATCGCCGT GTCAGTCCACTGACGTAGCGCCACATGGTGGTGTCAGCATCGCCGTGTCA GTCCACTGACGTAGCGCACACGGTGTTGTGTCAGCATCGCCGTGTCAGTC CACTGACGTAGCG	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0288 a0001c0001t0001g0288	1	292	0.0034	362	c.-16 others(381): Show c.-161-8751_-161-8750insACACGGTGGTGTCAGCATCGCCGTGT CAGTCCACTGACGTAGCGCACACGGTGGTGTCAGCATCGCCGTGTCAGTC CACTGACGTAGCGCACACGGTGGTGTCAGCATCGCCGTGTCAGTCCACTG ACGTAGCGCACACGGTGGTGTCAGCATCGCCGTGTCAGTCCACTGACGTA GCGCACACGGTGGTGTCAGCATCGCCGTGTCAGTCCACTGACGTAGCGCA CACGGTGGTGTCAGCATCGCCGTGTCAGTCCACTGACGTAGCGCCACATG GTGGTGTCAGCATCGCCGTGTCAGTCCACTGACGTAGCGCACACGGTGTT GTGTCAGCATCGCCGTGTCAGTCCACTGACGTAGCG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	3/17			chr21	TogoVar
PCBP3_chr21_45638725_45947450	45746666	C C	CACACGGT others(355): Show CACACGGTGGTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCACAC GGTGGTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGG TGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGGTGTCA GCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGGTGTCAGCATC GCCGTGTCAGTCCACTGACGTAGCGCACACGGTGGTGTCAGCATCGCCGT GTCAGTCCACTGACGTAGCGCCACATGGTGGTGTCAGCATCGCCGTGTCA GTCCACTGACGTAGCGCACACGGTGTTGTGTCAGCATCGCCGTGTCAGTC CACTGACGTAGCG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01516.hp1 HG01517.hp1 others(1): Show HG01192.hp2 HG01516.hp1 HG01517.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0200 others(1): Show a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0200 a0001c0001t0001g0203	4	292	0.0137	362	c.-16 others(381): Show c.-161-8751_-161-8750insACACGGTGGTGTCAGCATCGCCGTGT CAGTCCATTGACGTAGCGCACACGGTGGTGTCAGCATCGCCGTGTCAGTC CATTGACGTAGCGCACACGGTGGTGTCAGCATCGCCGTGTCAGTCCATTG ACGTAGCGCACACGGTGGTGTCAGCATCGCCGTGTCAGTCCATTGACGTA GCGCACACGGTGGTGTCAGCATCGCCGTGTCAGTCCACTGACGTAGCGCA CACGGTGGTGTCAGCATCGCCGTGTCAGTCCACTGACGTAGCGCCACATG GTGGTGTCAGCATCGCCGTGTCAGTCCACTGACGTAGCGCACACGGTGTT GTGTCAGCATCGCCGTGTCAGTCCACTGACGTAGCG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	3/17			chr21	TogoVar
PCBP3_chr21_45638725_45947450	45746666	C C	CACACGGT others(355): Show CACACGGTGGTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCACAC GGTGGTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGG TGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGGTGTCA GCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGGTGTCAGCATC GCCGTGTCAGTCCATTGACGTAGCGCACACGGTGGTGTCAGCATCGCCGT GTCAGTCCACTGACGTAGCGCCACATGGTGGTGTCAGCATCGCCGTGTCA GTCCACTGACGTAGCGCACACGGTGTTGTGTCAGCATCGCCGTGTCAGTC CACTGACGTAGCG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01358.hp2 HG01981.hp1 others(2): Show HG00639.hp1 HG01358.hp2 HG01981.hp1 NA18951.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0153 a0001c0001t0001g0198 others(2): Show a0001c0001t0001g0139 a0001c0001t0001g0153 a0001c0001t0001g0198 a0001c0001t0001g0202 a0001c0001t0001g0206	5	292	0.0171	362	c.-16 others(381): Show c.-161-8751_-161-8750insACACGGTGGTGTCAGCATCGCCGTGT CAGTCCATTGACGTAGCGCACACGGTGGTGTCAGCATCGCCGTGTCAGTC CATTGACGTAGCGCACACGGTGGTGTCAGCATCGCCGTGTCAGTCCATTG ACGTAGCGCACACGGTGGTGTCAGCATCGCCGTGTCAGTCCATTGACGTA GCGCACACGGTGGTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCA CACGGTGGTGTCAGCATCGCCGTGTCAGTCCACTGACGTAGCGCCACATG GTGGTGTCAGCATCGCCGTGTCAGTCCACTGACGTAGCGCACACGGTGTT GTGTCAGCATCGCCGTGTCAGTCCACTGACGTAGCG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	3/17			chr21	TogoVar
PCBP3_chr21_45638725_45947450	45746666	C C	CACACGGT others(355): Show CACACGGTGGTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCACAC GGTGGTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGG TGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGGTGTCA GCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGGTGTCAGCATC GCCGTGTCAGTCCATTGACGTAGCGCACACGGTGGTGTCAGCATCGCCGT GTCAGTCCATTGACGTAGCGCCACATGGTGGTGTCAGCATCGCCGTGTCA GTCCACTGACGTAGCGCACACGGTGTTGTGTCAGCATCGCCGTGTCAGTC CACTGACGTAGCG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00735.hp2 HG01099.hp2 others(1): Show HG00323.hp1 HG00735.hp2 HG01099.hp2 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0008 a0001c0001t0004 a0001c0001t0008	a0001c0001t0004g0114 a0001c0001t0004g0116 a0001c0001t0004g0117 others(1): Show a0001c0001t0004g0114 a0001c0001t0004g0116 a0001c0001t0004g0117 a0001c0001t0008g0113	4	292	0.0137	362	c.-16 others(381): Show c.-161-8751_-161-8750insACACGGTGGTGTCAGCATCGCCGTGT CAGTCCATTGACGTAGCGCACACGGTGGTGTCAGCATCGCCGTGTCAGTC CATTGACGTAGCGCACACGGTGGTGTCAGCATCGCCGTGTCAGTCCATTG ACGTAGCGCACACGGTGGTGTCAGCATCGCCGTGTCAGTCCATTGACGTA GCGCACACGGTGGTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCA CACGGTGGTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCCACATG GTGGTGTCAGCATCGCCGTGTCAGTCCACTGACGTAGCGCACACGGTGTT GTGTCAGCATCGCCGTGTCAGTCCACTGACGTAGCG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	3/17			chr21	TogoVar
PCBP3_chr21_45638725_45947450	45909792	C C	CCCCCCCA others(355): Show CCCCCCCACCCACTGCCCAGATACGGACCCCCCCCCACCCACTGCCCAGA TACGGACCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCACCCACTG CCCAGATACGGACCCGGCCCACCCACTGCCCAGATACGGACCCCCTCCAC CCACTGCCCAGATACGGACCCGGCCACCCACTGCCCAGATACAGACCCCC CCCACCCACTGCCCAGATACGGACCCCCCCCCGCCCACTGCCCAGATACG GACCCCCCCCGCCCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCA GATACGGACCTGGCCACCCACTGCCCAGATACGGACCCCCCCCACCCACT GCCCAGATACGGA	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	292	0.0034	362	c.471 others(377): Show c.471+312_471+313insACCCACTGCCCAGATACGGACCCCCCCCCA CCCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATACGGACCC CCCCCACCCACTGCCCAGATACGGACCCGGCCCACCCACTGCCCAGATAC GGACCCCCTCCACCCACTGCCCAGATACGGACCCGGCCACCCACTGCCCA GATACAGACCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCCGCCCA CTGCCCAGATACGGACCCCCCCCGCCCACTGCCCAGATACGGACCCCCCC CACCCACTGCCCAGATACGGACCTGGCCACCCACTGCCCAGATACGGACC CCCCCCACCCACTGCCCAGATACGGACCCCCC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45927331	T T	TCCTCCCC others(355): Show TCCTCCCCTCCTGCCCTCCTCTCCTTCACTCTGCCTCCTCCCTCCCCTCC TCTCCTCTCCCTCCCTCTCCCCCCTCCTCCCTCCTCTCTCCTCTCCCTCC CTCCCTCTCCCCCTACTTCCTCCCCTCCTGCCCTCCTCTCCCTCCCCTCC TGTCCCTCCCTCCCCTCCTGTCCCTCCCTCCCCTCCTGTCCCTCCCTCCC CTCCTGCCTTCCTCTTCCTCCCTCTCCCTCCCTCTCCCCCTCCTCCCTCC TCTCCTCTCTCCCCTCCCTCCCTCTCCCCCTCCTCCCTCCTCTCCTCTCC CCTCCCTCACTCTCCCCCTCCTCCCTCCTCTCCTCTCTCCCCTCCCTCAC TCTCCCCCTCCTC	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	292	0.0034	362	c.718 others(379): Show c.718-2575_718-2574insGCCCTCCTCTCCTTCACTCTGCCTCCTC CCTCCCCTCCTCTCCTCTCCCTCCCTCTCCCCCCTCCTCCCTCCTCTCTC CTCTCCCTCCCTCCCTCTCCCCCTACTTCCTCCCCTCCTGCCCTCCTCTC CCTCCCCTCCTGTCCCTCCCTCCCCTCCTGTCCCTCCCTCCCCTCCTGTC CCTCCCTCCCCTCCTGCCTTCCTCTTCCTCCCTCTCCCTCCCTCTCCCCC TCCTCCCTCCTCTCCTCTCTCCCCTCCCTCCCTCTCCCCCTCCTCCCTCC TCTCCTCTCCCCTCCCTCACTCTCCCCCTCCTCCCTCCTCTCCTCTCTCC CCTCCCTCACTCTCCCCCTCCTCCCTCCCCTCCT	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PIGQ_chr16_564968_589109	571109	C C	CTGGCTAG others(355): Show CTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGT CTGGCTAGCCTGGTGCCTGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGT GTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGT ATGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCGTGT GTGTGTGTGGGGGGGGGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAGCCT GTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGT GTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTGTGTGTGTGTCTGGCT AGCCTGGCACCCG	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0048 a0003c0003t0003g0048	1	408	0.0025	362	c.-10 others(379): Show c.-10+1024_-10+1025insTGTGTGTGTGTCTGGCTAGCCTGTGTGT GTGTGTGTGTCTGGCTAGCCTGGTGCCTGTGTGTGTGTGTATGTGTGTGT GTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGT GTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTG GTGCCCGTGTGTGTGTGTGGGGGGGGGGGCTAGCCTTGTGTGTGTGTGTC TGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGC CTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTGTGTGT GTGTCTGGCTAGCCTGGCACCCGTGGCTAGCCTG	PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PIMREG_chr17_6439455_6456469	6455708	G G	GGGGGAGG others(355): Show GGGGGAGGGGAGGAGATGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGG AATAGGGGAGGGGAGAGGAGGGAAGAGGGAAGAGGGGAGGGGAGGGGGAA GAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGGAGGGGGAAG AGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGGAGGGGAGGGGGAAGA GGGGAAGGGAGGGGAGGGGGAAGAGGGAAGGGAGGGGAGGGGGAAGAGGG GAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGA AGGGGGGGAAGAGGGGAAGGGGAGAGGAGGGGAGGGGAGAGGAGGGAAGG GGGAAGAGGGGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0015 a0001c0001t0002g0015	1	312	0.0032	362	c.53 others(373): Show c.5361_*5362insGGGGAGGGGAGGAGATGGGAGGGGGAAGAGGGGA AGGGAGGGGAGGGGGAATAGGGGAGGGGAGAGGAGGGAAGAGGGAAGAGG GGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGG AGGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGG AGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGAAGGGAGG GGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGG AGGGGGAAGAGGGGAAGGGGGGGAAGAGGGGAAGGGGAGAGGAGGGGAGG GGAGAGGAGGGAAGGGGGAAGAGGGGAT	PIMREG	ENSG00000129195.16	transcript	ENST00000572447.6	protein_coding		4240		chr17	TogoVar
PITPNC1_chr17_67372281_67702256	67550441	G G	GAAAAGAC others(355): Show GAAAAGACAGGCAAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCAGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACCA TCCTGGCTAACACAGTGAAACCCCGCCTCTACTAAAAATACAAAAAATTA GCCGGGCGTCGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA AAAAAGACTAAAAAAAAAAAAAAAAAAAAGACTAAAAAAAAAAAAAAAAA AAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0203 a0001c0001t0026g0203	1	218	0.0046	362	c.198 others(379): Show c.198-1801_198-1800insGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCAGAGGCGGGCGGATCATGAGGTCAGGAGATCG AGACCATCCTGGCTAACACAGTGAAACCCCGCCTCTACTAAAAATACAAA AAATTAGCCGGGCGTCGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCCCGCCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAA AAAAAAAAAAAGACTAAAAAAAAAAAAAAAAAAAAGACTAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAGACAGGCAAGG	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
PKP3_chr11_389209_409908	401882	C C	CGCTCACC others(355): Show CGCTCACCCCCGACCCGCTCACCCCCGGGCCCCGCTCACACCCGACCCGC TCACACCCGACCCGCTCACACCCGACCCGCTCACCCCCGACCCGCTCACC CCCGACCCGCTCACCCCAGCCCCGCTCACCCCCGACCCGCTCACCCCGGA CCCTGCTCACACCGGACCCCGCTCACACCCGGCCCCCGCTCACACCCGAC CCGCTCACCCCCCGACCCGCTCACCCCCGACCCGCTCACCCCGGGCCCCG CTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGACCCGCTCA CACCCGACCCGCTCACCCCCGGCCCCGCTCACCCCGGCCCCGCTCACCCC GGCCCCGCTCACA	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0143 a0001c0002t0001g0143	1	216	0.0046	362	c.173 others(381): Show c.1737+1177_1737+1178insGCTCACCCCCGACCCGCTCACCCCCG GGCCCCGCTCACACCCGACCCGCTCACACCCGACCCGCTCACACCCGACC CGCTCACCCCCGACCCGCTCACCCCCGACCCGCTCACCCCAGCCCCGCTC ACCCCCGACCCGCTCACCCCGGACCCTGCTCACACCGGACCCCGCTCACA CCCGGCCCCCGCTCACACCCGACCCGCTCACCCCCCGACCCGCTCACCCC CGACCCGCTCACCCCGGGCCCCGCTCACACCCGCCCCGCTCACACCCGGC CCCGCTCACACCCGACCCGCTCACACCCGACCCGCTCACCCCCGGCCCCG CTCACCCCGGCCCCGCTCACCCCGGCCCCGCTCACA	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12			chr11	TogoVar
PLA2R1_chr2_159927006_160067615	159941367	T T	TCTTTCTG others(355): Show TCTTTCTGTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGG ACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0135 a0001c0001t0135	a0001c0001t0135g0304 a0001c0001t0135g0304	1	326	0.0031	362	c.41 others(371): Show c.410_*411insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAGAAAGACAGAAAG	PLA2R1	ENSG00000153246.13	transcript	ENST00000283243.13	protein_coding	30/30	410		chr2	TogoVar
PLCB1_chr20_8127266_8889900	8661993	T T	TAATTATT others(355): Show TAATTATTTATTATATAATTATATATAATTATATAATTATTTATTATATA ATTATATATAATTATATAATTATTTATTATATAATTATATATAATTATAT AATTATTTATTATATAATTATATATAATTATATAATTATTTATTATATAA TTATATATAATTATATAATTATTTATTATATAATTATATATAATTATATA ATTATTTATTATATAATTATATATAATTATATAATTATTTATTATATAAT TATATATAATTATATAATTATTTATTATATAATTATATATAATTATATAA TTATTTATTATATAATTATATATAATTATATAATTATTTATTATATAATT ATATATAATATAC	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0025 a0001c0001t0004g0025	1	106	0.0094	362	c.862 others(379): Show c.862+3317_862+3318insTATATAATTATTTATTATATAATTATAT ATAATTATATAATTATTTATTATATAATTATATATAATTATATAATTATT TATTATATAATTATATATAATTATATAATTATTTATTATATAATTATATA TAATTATATAATTATTTATTATATAATTATATATAATTATATAATTATTT ATTATATAATTATATATAATTATATAATTATTTATTATATAATTATATAT AATTATATAATTATTTATTATATAATTATATATAATTATATAATTATTTA TTATATAATTATATATAATTATATAATTATTTATTATATAATTATATATA ATATACAATTATTTATTATATAATTATATATAAT	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	9/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
PLEKHG4B_chr5_87168_194966	105137	T T	TTGGTGTT others(355): Show TTGGTGTTCCCGTCCTGAAGGTGGAGAAACACTCCACAGTGGGTGAGGGC TGTTCTGGTTTTGGTGTTCCCGTCCTGAAGGTGGAGAAACACTCCACAGT GGGTGAGGGCTGTTCTGGTTTTGGTGTTCCCGTCCTGAAGGTGGAGAAAC ACTCCGCAGTGTGTGAGGGCGGTTCTGAGTTCTGGTGTTCCCGTCCTGAA GGTGGAAAAACAGTGCACAGTGGGTGAGGGCTGTTCTGGTCCTGGTGTTC CCGTCCTGAAGGTGGAGAAACACTCCACAGTGGGTGAGGGCTGTTCTGGT TTTGGTGTTCCCGTCCTGAAGGTGGAGAAACACTCCGCAGTGTGTGAGGG CTGTTCTGGGTTC	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0033 a0033	a0033c0081 a0033c0081	a0033c0081t0064 a0033c0081t0064	a0033c0081t0064g0200 a0033c0081t0064g0200	1	210	0.0048	362	c.46- others(377): Show c.46-8080_46-8079insACAGTGGGTGAGGGCTGTTCTGGTTTTGGT GTTCCCGTCCTGAAGGTGGAGAAACACTCCACAGTGGGTGAGGGCTGTTC TGGTTTTGGTGTTCCCGTCCTGAAGGTGGAGAAACACTCCGCAGTGTGTG AGGGCGGTTCTGAGTTCTGGTGTTCCCGTCCTGAAGGTGGAAAAACAGTG CACAGTGGGTGAGGGCTGTTCTGGTCCTGGTGTTCCCGTCCTGAAGGTGG AGAAACACTCCACAGTGGGTGAGGGCTGTTCTGGTTTTGGTGTTCCCGTC CTGAAGGTGGAGAAACACTCCGCAGTGTGTGAGGGCTGTTCTGGGTTCTG GTGTTCCCGTCCTGAAGGTGGAGAAACACTCC	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	105137	T T	TTGGTGTT others(355): Show TTGGTGTTCCCGTCCTGAAGGTGGAGAAACACTCCACAGTGGGTGAGGGC TGTTCTGGTTTTGGTGTTCCCGTCCTGAAGGTGGAGAAACACTCCACAGT GGGTGAGGGCTGTTCTGGTTTTGGTGTTCCCGTCCTGAAGGTGGAGAAAC ACTCCGCAGTGTGTGAGGGCGGTTCTGAGTTCTGGTGTTCCCGTCCTGAA GGTGGAAAAACAGTGCACAGTGGGTGAGGGCTGTTCTGGTTCTGGTATTC CCGTCCTGAAGGTGGAGAAACACTCCACAGTGGGTGAGGGCTGTTCTGGT TTTGGTGTTCCCGTCCTGAAGGTGGAGAAACACTCCGCAGTGTGTGAGGG CTGTTCTGGGTTC	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0029 a0029	a0029c0046 a0029c0046	a0029c0046t0047 a0029c0046t0047	a0029c0046t0047g0180 a0029c0046t0047g0180	1	210	0.0048	362	c.46- others(377): Show c.46-8080_46-8079insACAGTGGGTGAGGGCTGTTCTGGTTTTGGT GTTCCCGTCCTGAAGGTGGAGAAACACTCCACAGTGGGTGAGGGCTGTTC TGGTTTTGGTGTTCCCGTCCTGAAGGTGGAGAAACACTCCGCAGTGTGTG AGGGCGGTTCTGAGTTCTGGTGTTCCCGTCCTGAAGGTGGAAAAACAGTG CACAGTGGGTGAGGGCTGTTCTGGTTCTGGTATTCCCGTCCTGAAGGTGG AGAAACACTCCACAGTGGGTGAGGGCTGTTCTGGTTTTGGTGTTCCCGTC CTGAAGGTGGAGAAACACTCCGCAGTGTGTGAGGGCTGTTCTGGGTTCTG GTGTTCCCGTCCTGAAGGTGGAGAAACACTCC	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	105137	T T	TTGGTGTT others(355): Show TTGGTGTTCCCGTCCTGAAGGTGGAGAAACACTCCACAGTGGGTGAGGGC TGTTCTGGTTTTGGTGTTCCCGTCCTGAAGGTGGAGAAACACTCCACAGT GGGTGAGGGCTGTTCTGGTTTTGGTGTTCCCGTCCTGAAGGTGGAGAAAC ACTCCGCAGTGTGTGAGGGCGGTTCTGAGTTCTGGTGTTCCCGTCCTGAA GGTGGAAAAACAGTGCACAGTGGGTGAGGGCTGTTCTGGTTCTGGTGTTC CCGTCCTGAAGGTGGAGAAACACTCCACAGTGGGTGAGGGCTGTTCTGGT TTTGGTGTTCCCGTCCTGAAGGTGGAGAAACACTCCGCAGTGTGTGAGGG CTGTTCTGGGTTC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00597.hp2 others(36): Show HG00280.hp2 HG00323.hp2 HG00597.hp2 HG01081.hp2 HG01099.hp1 HG01261.hp2 HG02004.hp2 HG02109.hp2 HG02145.hp2 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02622.hp1 HG02647.hp1 HG02717.hp2 HG02809.hp1 HG02818.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03195.hp2 HG03225.hp1 HG03471.hp2 HG03579.hp2 HG04204.hp1 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18984.hp1 NA19012.hp1 NA19043.hp2	a0001 a0006 a0008 others(15): Show a0001 a0006 a0008 a0009 a0011 a0012 a0013 a0015 a0016 a0018 a0020 a0023 a0026 a0030 a0031 a0032 a0037 a0038	a0001c0011 a0006c0021 a0006c0068 others(27): Show a0001c0011 a0006c0021 a0006c0068 a0006c0070 a0006c0071 a0006c0072 a0006c0073 a0008c0024 a0008c0025 a0008c0079 a0009c0014 a0009c0069 a0011c0023 a0011c0078 a0012c0020 a0012c0067 a0013c0027 a0013c0066 a0015c0019 a0016c0022 a0018c0076 a0018c0077 a0020c0063 a0023c0064 a0026c0080 a0030c0026 a0031c0060 a0032c0075 a0037c0062 a0038c0074	a0001c0011t0048 a0006c0021t0018 a0006c0021t0056 others(34): Show a0001c0011t0048 a0006c0021t0018 a0006c0021t0056 a0006c0068t0058 a0006c0070t0054 a0006c0071t0018 a0006c0072t0036 a0006c0073t0020 a0008c0024t0021 a0008c0025t0045 a0008c0025t0069 a0008c0079t0068 a0009c0014t0019 a0009c0014t0055 a0009c0014t0057 a0009c0069t0019 a0011c0023t0041 a0011c0023t0044 a0011c0078t0059 a0012c0020t0050 a0012c0020t0052 a0012c0067t0046 a0013c0027t0049 a0013c0066t0051 a0015c0019t0010 a0015c0019t0062 a0016c0022t0011 a0018c0076t0067 a0018c0077t0053 a0020c0063t0063 a0023c0064t0010 a0026c0080t0043 a0030c0026t0060 a0031c0060t0020 a0032c0075t0061 a0037c0062t0010 a0038c0074t0037	a0001c0011t0048g0179 a0006c0021t0018g0198 a0006c0021t0056g0199 others(36): Show a0001c0011t0048g0179 a0006c0021t0018g0198 a0006c0021t0056g0199 a0006c0068t0058g0194 a0006c0070t0054g0207 a0006c0071t0018g0202 a0006c0072t0036g0206 a0006c0073t0020g0193 a0008c0024t0021g0175 a0008c0024t0021g0176 a0008c0025t0045g0172 a0008c0025t0069g0174 a0008c0079t0068g0173 a0009c0014t0019g0205 a0009c0014t0055g0201 a0009c0014t0057g0197 a0009c0069t0019g0204 a0011c0023t0041g0184 a0011c0023t0044g0187 a0011c0078t0059g0185 a0012c0020t0050g0182 a0012c0020t0052g0183 a0012c0067t0046g0186 a0013c0027t0049g0171 a0013c0066t0051g0170 a0015c0019t0010g0164 a0015c0019t0062g0191 a0016c0022t0011g0195 a0016c0022t0011g0196 a0018c0076t0067g0192 a0018c0077t0053g0181 a0020c0063t0063g0189 a0023c0064t0010g0190 a0026c0080t0043g0177 a0030c0026t0060g0169 a0031c0060t0020g0188 a0032c0075t0061g0178 a0037c0062t0010g0165 a0038c0074t0037g0203	39	210	0.1857	362	c.46- others(377): Show c.46-8080_46-8079insACAGTGGGTGAGGGCTGTTCTGGTTTTGGT GTTCCCGTCCTGAAGGTGGAGAAACACTCCACAGTGGGTGAGGGCTGTTC TGGTTTTGGTGTTCCCGTCCTGAAGGTGGAGAAACACTCCGCAGTGTGTG AGGGCGGTTCTGAGTTCTGGTGTTCCCGTCCTGAAGGTGGAAAAACAGTG CACAGTGGGTGAGGGCTGTTCTGGTTCTGGTGTTCCCGTCCTGAAGGTGG AGAAACACTCCACAGTGGGTGAGGGCTGTTCTGGTTTTGGTGTTCCCGTC CTGAAGGTGGAGAAACACTCCGCAGTGTGTGAGGGCTGTTCTGGGTTCTG GTGTTCCCGTCCTGAAGGTGGAGAAACACTCC	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	164952	A A	ACAGTAAT others(355): Show ACAGTAATCCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCG GGGCTCACACTAATGCTCTGACGGGGCGGGGCTCACACTAACGCTCTGAC GGGGCGGAGCTCACACTAATGCTGTGACGGGGCGGGGCTCACACTAACGC TCTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGGGCTCACAC TAATGCTCTGACGGGGCGGGGCTCACACTAACGCTCTGACGGGGCGGAGC TCACACTAATGCTGTGACGGGGCGGGGCTCACACTAATGCTGTGACGGGG CGGGGCTCACACTAACGCTCTGACGGGGCGGGGCTCACAGTAATCCTCTG ACGGGGCGGAGCT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0008 a0008	a0008c0024 a0008c0024	a0008c0024t0021 a0008c0024t0021	a0008c0024t0021g0175 a0008c0024t0021g0175	1	210	0.0048	362	c.347 others(381): Show c.3476+1406_3476+1407insGTAATCCTCTGACGGGGCGGAGCTCA CACTAATGCTCTGACGGGGCGGGGCTCACACTAATGCTCTGACGGGGCGG GGCTCACACTAACGCTCTGACGGGGCGGAGCTCACACTAATGCTGTGACG GGGCGGGGCTCACACTAACGCTCTGACGGGGCGGAGCTCACACTAATGCT CTGACGGGGCGGGGCTCACACTAATGCTCTGACGGGGCGGGGCTCACACT AACGCTCTGACGGGGCGGAGCTCACACTAATGCTGTGACGGGGCGGGGCT CACACTAATGCTGTGACGGGGCGGGGCTCACACTAACGCTCTGACGGGGC GGGGCTCACAGTAATCCTCTGACGGGGCGGAGCTCA	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	165509	G G	GGCTCACA others(355): Show GGCTCACACTAATGCTCTGACGGGGCAGGGCTCACACTAATGCTCTGACG GGGCGGGGCTCACAGTACTCCTCTGACGGGGCGGAGCTCACACTAATGCT CTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGGGCTCACTAA TGCTCTGACGGGGCGGGGCTCACACTAACGCTCTGACGGGGCGGGGCTCA CAGTAATCCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGG GGCTCACAGTAATCCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACG GGGCGGGGCTCACACTAATGCTCTGATGGGGCGGGGCTCACACTAATGCT CTGACGGGGCGGA	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA19066.hp2 NA19088.hp1 NA18979.hp2 NA19066.hp2 NA19088.hp1	a0003 a0003	a0003c0004 a0003c0017 a0003c0004 a0003c0017	a0003c0004t0016 a0003c0017t0016 a0003c0004t0016 a0003c0017t0016	a0003c0004t0016g0078 a0003c0004t0016g0133 a0003c0017t0016g0110 a0003c0004t0016g0078 a0003c0004t0016g0133 a0003c0017t0016g0110	3	210	0.0143	362	c.347 others(381): Show c.3476+1986_3476+1987insAGGGCTCACACTAATGCTCTGACGGG GCGGGGCTCACAGTACTCCTCTGACGGGGCGGAGCTCACACTAATGCTCT GACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGGGCTCACTAATG CTCTGACGGGGCGGGGCTCACACTAACGCTCTGACGGGGCGGGGCTCACA GTAATCCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGGG CTCACAGTAATCCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACGGG GCGGGGCTCACACTAATGCTCTGATGGGGCGGGGCTCACACTAATGCTCT GACGGGGCGGAGCTCACACTAATGCTCTGACGGGGC	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLPP1_chr5_55419854_55539964	55433460	T T	TTCAGTAA others(355): Show TTCAGTAAAGTTTTTTGTTTTTTTTTGTTTTTTTTTTTTTTTTTGTTTGT TTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGC GGGACTGAGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTA CAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATG ATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCCTGAGCCAC CGCGCCCGGCCAC	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	294	0.0034	362	c.550 others(379): Show c.550-7422_550-7421insGTGGCCGGGCGCGGTGGCTCAGGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAG TGAGCCGAGATTGCGCCACTGCAGTCCTCAGTCCCGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAACAAACAAAAAAAAA AAAAAAAACAAAAAAAAACAAAAAACTTTACTGA	PLPP1	ENSG00000067113.17	transcript	ENST00000307259.9	protein_coding	4/5			chr5	TogoVar
PLPP2_chr19_276043_296403	291612	G G	GGGGGGGA others(355): Show GGGGGGGACGGCAGCGGCGGGCAGGGGAGCGGCGGGCGGGGCGGGGAGGG GAGGGCAGCAGGGGAGAGGGGAGGAGGGGAGGGGCGGGGAGGGGAGGGGA GGAGGGAGGGGGAGGGGAGGAGGGAGGGGGGACGGCAGCGGCGGGCAGGG GAGCGGCGGGCGGGGCGGGGAGGAGGGGAGGGAGGGGGAGGGGAGGAGGG GGGGAGGGGAGGGGAGGAAGGGGGGGACGGCAGCGGCGGGCAGGGGAGCA GCGGGCGGGGCGGGGAGGAGGGGAGGGTTAGGGGCGGGGAGGGGAGGAGG GAGGGGGAGGGGAGGAGGGGCGGGGAGGGGAGAGGGGGGAGGGGAGGAGG GAGGGGGAGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01106.hp1 others(11): Show HG01069.hp1 HG01071.hp1 HG01106.hp1 HG01167.hp2 HG02004.hp2 HG02040.hp2 HG02080.hp1 HG02273.hp1 HG04184.hp1 NA18961.hp1 NA18970.hp1 NA18971.hp1 NA18995.hp2 NA19065.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0001c0001t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0054 others(9): Show a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0061 a0001c0001t0001g0144 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0002g0060 a0002c0002t0001g0023 a0002c0002t0001g0174 a0002c0002t0001g0180	14	354	0.0396	362	c.-27 others(371): Show c.-277_-276insTCCCCTCCCCCTCCCTCCTCCCCTCCCCCCTCTCCC CTCCCCGCCCCTCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCGCCCCTAA CCCTCCCCTCCTCCCCGCCCCGCCCGCTGCTCCCCTGCCCGCCGCTGCCG TCCCCCCCTTCCTCCCCTCCCCTCCCCCCCTCCTCCCCTCCCCCTCCCTC CCCTCCTCCCCGCCCCGCCCGCCGCTCCCCTGCCCGCCGCTGCCGTCCCC CCTCCCTCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCTCCCCGCCCCTCC CCTCCTCCCCTCTCCCCTGCTGCCCTCCCCTCCCCGCCCCGCCCGCCGCT CCCCTGCCCGCCGCTGCCGTCCCCCC	PLPP2	ENSG00000141934.10	transcript	ENST00000434325.7	protein_coding		210		chr19	TogoVar
PNMA5_chrX_152983824_152999116	152998738	T T	TTTATATA others(355): Show TTTATATATAATATATAATATATATTTATATAAAAATATATTATATATAA TATAATATATATTATATATAATATATATTTATATATAATATATATTATAT ATAAAAATATATTTATATATATTATATTATATATAATATATTATATATAT TATATTATATATAATATATTATATATATTATATATAATATATTATATATA TTATATTATATATAATATATTATATATATTATATATAATATATTATATAT ATTATATATAATATATTATATATATTATATTATATATAATATATTATATA TATTATATTATATATAATATATTATATATATTATATTATATATAATATAT TATATATATTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	286	0.0035	362	c.-50 others(373): Show c.-5036_-5035insTATAATATATATAATATATTATATATAATATAAT ATATATAATATATTATATATAATATAATATATATAATATATTATATATAA TATAATATATATAATATATTATATATAATATATATAATATATTATATATA ATATATATAATATATTATATATAATATAATATATATAATATATTATATAT AATATATATAATATATTATATATAATATAATATATATAATATATTATATA TAATATAATATATATAAATATATTTTTATATATAATATATATTATATATA AATATATATTATATATAATATATATTATATTATATATAATATATTTTTAT ATAAATATATATTATATATTATATATAA	PNMA5	ENSG00000198883.12	transcript	ENST00000535214.6	protein_coding		4623		chrX	TogoVar
PRKAG2_chr7_151551127_151882115	151855031	G G	GCTCCACA others(355): Show GCTCCACACACCACCCTCCACACACCACCCTCCACACACACCATCCACAC ACCACCCTCCACACACACCATGCTCCACACACACCATCCTCCACACACAC CATGCTCCACACACACCACCCTCCACACACCACCCTCCACACACACCATC CACACACCACCCTCCACACACACCATCCTCCACACACACCATCCTCCACA CACACCATGCTCCACACACACCACCCTCCACACACCACCATCCACACACA CCACGCTCCACACACACCATCCTCCACACACACCATCCTCCACACACACC ACCCTCCACACACCACCATCCACACACACCACCCTCCACACACCACCATC CACACACACCACC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0039	1	252	0.0040	362	c.114 others(381): Show c.114+21475_114+21476insGGTGGTGTGTGTGGATGGTGGTGTGT GGAGGGTGGTGTGTGTGGATGGTGGTGTGTGGAGGGTGGTGTGTGTGGAG GATGGTGTGTGTGGAGGATGGTGTGTGTGGAGCGTGGTGTGTGTGGATGG TGGTGTGTGGAGGGTGGTGTGTGTGGAGCATGGTGTGTGTGGAGGATGGT GTGTGTGGAGGATGGTGTGTGTGGAGGGTGGTGTGTGGATGGTGTGTGTG GAGGGTGGTGTGTGGAGGGTGGTGTGTGTGGAGCATGGTGTGTGTGGAGG ATGGTGTGTGTGGAGCATGGTGTGTGTGGAGGGTGGTGTGTGGATGGTGT GTGTGGAGGGTGGTGTGTGGAGGGTGGTGTGTGGAG	PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	1/15			chr7	TogoVar
PRSS33_chr16_2778953_2792560	2787264	C C	CTCACCCC others(355): Show CTCACCCCCTCCCTCATCCTTCACCCCCTCCCTCATCCTCACTCCTCTCT CATCACCCCTCCTCCATCCTTCACCCCCCCATCGTCACCCCCTCCCTCAT CCTCACCCCCTTCCTCCTCACTCCCCTCCCTCATCCTCACCCCCTCCCCC ATCCTTCACCCCTCCTCGTCCTCACCCTCATCCTCACCCCCTCCTCTATC CTCACCCCCTCCTCCATCCTCAGCCCCCTCCTCCTCACTCCCCTCCCTCA TCCTCACCCCTGTCTCATCCTCACCCCCTCCCCATCCTTCACCCCCTCCC TCATCCTTCACCCCCTCCCCCATCCTTCACCCCCTCCCCCATCCTTCACC CCTCCCTCATCCT	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	386	0.0026	362	c.-58 others(377): Show c.-58+268_-58+269insAGGATGAGGGAGGGGTGAAGGATGGGGGAG GGGGTGAAGGATGGGGGAGGGGGTGAAGGATGAGGGAGGGGGTGAAGGAT GGGGAGGGGGTGAGGATGAGACAGGGGTGAGGATGAGGGAGGGGAGTGAG GAGGAGGGGGCTGAGGATGGAGGAGGGGGTGAGGATAGAGGAGGGGGTGA GGATGAGGGTGAGGACGAGGAGGGGTGAAGGATGGGGGAGGGGGTGAGGA TGAGGGAGGGGAGTGAGGAGGAAGGGGGTGAGGATGAGGGAGGGGGTGAC GATGGGGGGGTGAAGGATGGAGGAGGGGTGATGAGAGAGGAGTGAGGATG AGGGAGGGGGTGAAGGATGAGGGAGGGGGTGA	PRSS33	ENSG00000103355.14	transcript	ENST00000682474.1	protein_coding	1/6			chr16	TogoVar
RIMBP2_chr12_130391133_130721299	130392443	G G	GTCAGTTA others(355): Show GTCAGTTACCTGGTAAATATTGAATGTTGTGATGACCTGGTCACCGTCAT CAAGTGTGTCCATCAGTTACCTGGTGAATATTGAATGTTGTGATGACCCG GTCACCGTCATCATGTGTCCGTCAGTTACCTGGTAAATATTGAATGTTGT GATGACCTGGTCACCGTCATCAAGTGTGTCCATCAGTTACCTGGTGAATA TTGAATGTTGTGATGACCCGGTCACCGTCATCACGTGTCCGTCAGTTACC TGGTGAATATTGAATGTTGTGATGACCCGGTCACCGTCATCATGTGTGTC CGTCAGTTACCTGGTGAATATTGAATGTTGTGATGACCTGGTCACCGTCA TCACGTGTGTCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02615.hp1 HG02622.hp1 others(5): Show HG02258.hp1 HG02615.hp1 HG02622.hp1 HG02717.hp1 HG02970.hp1 HG03130.hp2 HG03195.hp1 HG03486.hp2	a0001 a0002 a0015 a0001 a0002 a0015	a0001c0005 a0001c0020 a0001c0043 others(4): Show a0001c0005 a0001c0020 a0001c0043 a0001c0049 a0002c0014 a0002c0016 a0015c0046	a0001c0005t0001 a0001c0020t0001 a0001c0043t0001 others(4): Show a0001c0005t0001 a0001c0020t0001 a0001c0043t0001 a0001c0049t0001 a0002c0014t0004 a0002c0016t0001 a0015c0046t0004	a0001c0005t0001g0129 a0001c0020t0001g0118 a0001c0020t0001g0140 others(5): Show a0001c0005t0001g0129 a0001c0020t0001g0118 a0001c0020t0001g0140 a0001c0043t0001g0108 a0001c0049t0001g0169 a0002c0014t0004g0144 a0002c0016t0001g0135 a0015c0046t0004g0167	8	180	0.0444	362	c.49 others(373): Show c.4917_*4918insTGGACACACGTGATGACGGTGACCAGGTCATCAC AACATTCAATATTCACCAGGTAACTGACGGACACACATGATGACGGTGAC CGGGTCATCACAACATTCAATATTCACCAGGTAACTGACGGACACGTGAT GACGGTGACCGGGTCATCACAACATTCAATATTCACCAGGTAACTGATGG ACACACTTGATGACGGTGACCAGGTCATCACAACATTCAATATTTACCAG GTAACTGACGGACACATGATGACGGTGACCGGGTCATCACAACATTCAAT ATTCACCAGGTAACTGATGGACACACTTGATGACGGTGACCAGGTCATCA CAACATTCAATATTTACCAGGTAACTGA	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding		3689		chr12	TogoVar
RNF17_chr13_24759169_24884921	24881918	C C	CTATATAG others(355): Show CTATATAGATATATAGATGCATCTATATAGATATATAATCTATATAGATA TATAATCTATATAGATATATAGATACATCTATATAGATATATAGATACAT CTATATAGATATATAGATACATCTATATAGATACATCTATATATAGATAC ATCTATATATAGATACATCTATATATAGATACATCTATATATAGATACAT CTATATATAGATACATCTATATATAGATACATCTATATATAGATACATCT ATATATAGATACATCTATATATAGATACATCTATATATAGATACATCTAT ATATAGATACATCTATATATAGATACATCTATATATAGATACATCTATAT ATAGATACATCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	426	0.0024	362	c.21 others(373): Show c.2192_*2193insTATATAGATATATAGATGCATCTATATAGATATA TAATCTATATAGATATATAATCTATATAGATATATAGATACATCTATATA GATATATAGATACATCTATATAGATATATAGATACATCTATATAGATACA TCTATATATAGATACATCTATATATAGATACATCTATATATAGATACATC TATATATAGATACATCTATATATAGATACATCTATATATAGATACATCTA TATATAGATACATCTATATATAGATACATCTATATATAGATACATCTATA TATAGATACATCTATATATAGATACATCTATATATAGATACATCTATATA TAGATACATCTATATATAGATACATCTA	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		1998		chr13	TogoVar
RNF220_chr1_44400255_44656723	44419901	T T	TAGAAACC others(355): Show TAGAAACCTAAGATTGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	218	0.0046	362	c.625 others(379): Show c.625+7195_625+7196insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAGAAACCTAAGATTGG	RNF220	ENSG00000187147.19	transcript	ENST00000361799.7	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
RSRC1_chr3_158105089_158550730	158228874	A A	AACACACA others(355): Show AACACACATACGTGTATATATGTATATAAACACACATACGTGTATATGTT TATATAAACACACATACGTGTATATGTGTATATAAACACACATACGTGTA TATGTGTATATAAACACACATACGTGTATATGTGTATATAAACACATACG TGTATATGTGTATATAAACACATACGTGTATATGTGTATATAAACACACA TACGTGTATATGTGTATATAAACACACATACGTGTATATGTGTATATAAA CACACATACGTGTATATGTGTATATAAACACACATACGTGTATATGTGTA TATAAACACACATACGTGTATATGTGTATATAAACACACATACGTGTATA TGTGTATATAAAC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0095 a0001c0001t0002g0095	1	276	0.0036	362	c.494 others(381): Show c.494+25634_494+25635insCATACGTGTATATATGTATATAAACA CACATACGTGTATATGTTTATATAAACACACATACGTGTATATGTGTATA TAAACACACATACGTGTATATGTGTATATAAACACACATACGTGTATATG TGTATATAAACACATACGTGTATATGTGTATATAAACACATACGTGTATA TGTGTATATAAACACACATACGTGTATATGTGTATATAAACACACATACG TGTATATGTGTATATAAACACACATACGTGTATATGTGTATATAAACACA CATACGTGTATATGTGTATATAAACACACATACGTGTATATGTGTATATA AACACACATACGTGTATATGTGTATATAAACACACA	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
SATL1_chrX_85087284_85248779	85088071	C C	CGTATTTA others(355): Show CGTATTTATACATATATGTATAAATACGTATTAATACATATATGTATAAA TACGTATTAATACATATATGTATAAATACATACATATTTATACATATATG TATACATACATATTTATACATATATATGTATAAATACATATTTATACATA TATATGTATAAATACATACATATTTATACATATATATGTATAAATACATA CATATTTATACATATATATGTATAAATACATACATATTTATACATATATA TGTATAAATACATACATATTTATACATATATATGTATAAATACATACATA TTTATACATATATGTATAAATACATACATATTTATACATATATGTATAAA TACATATACATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0045 a0005c0005t0002g0045	1	232	0.0043	362	c.43 others(373): Show c.4319_*4320insATATGTATATGTATTTATACATATATGTATAAAT ATGTATGTATTTATACATATATGTATAAATATGTATGTATTTATACATAT ATATGTATAAATATGTATGTATTTATACATATATATGTATAAATATGTAT GTATTTATACATATATATGTATAAATATGTATGTATTTATACATATATAT GTATAAATATGTATGTATTTATACATATATATGTATAAATATGTATTTAT ACATATATATGTATAAATATGTATGTATACATATATGTATAAATATGTAT GTATTTATACATATATGTATTAATACGTATTTATACATATATGTATTAAT ACGTATTTATACATATATGTATAAATAC	SATL1	ENSG00000184788.14	transcript	ENST00000644105.2	protein_coding		4212		chrX	TogoVar
SCTR_chr2_119434843_119529483	119525206	T T	TGGGCTCA others(355): Show TGGGCTCAAGAGATCCTCTCACCTCGGCCTCCCAAAGTGCTGGGATTACA GGCATGAGCCACTGGGCCCAGCACTAGATGGGTCTTGCAAACTCAATTTT CCTTAGTCTGCACTGGTGCCCACTCCCTTCCTTCTTCTCTCTCCTCCTTT CTTGATCTTTCTCCCAGGCACTTTAAGTACATCAGCTCATTTAATTCTCC CCCACACCCCTAGGTGATACGATGTCCATTTGACAGAGGAGGGCATTGGA GGTGGAGGAGGATTCATTACATGTCTGGGTACTGCAACTCAGAGGCTCAG ACAGGAAAGCCTGAATCTACCCTTACATGGCTGACCCGACTCTCTGTAAC TGGCCCTTACGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(103): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00438.hp1 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00673.hp2 HG00735.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01106.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01891.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01981.hp1 HG02055.hp2 HG02080.hp1 HG02083.hp2 HG02132.hp2 HG02135.hp2 HG02257.hp1 HG02258.hp2 HG02293.hp1 HG02451.hp1 HG02523.hp1 HG02559.hp2 HG02602.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp2 HG02723.hp2 HG02818.hp1 HG02818.hp2 HG02896.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG03017.hp1 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03239.hp2 HG03486.hp1 HG03490.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03927.hp2 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18945.hp2 NA18947.hp2 NA18966.hp2 NA18967.hp2 NA18971.hp1 NA19000.hp2 NA19030.hp2 NA19065.hp1 NA19083.hp2 NA19091.hp1 NA20129.hp1 NA20129.hp2 NA20905.hp1 NA21309.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0012	a0001c0001 a0001c0002 a0001c0016 others(8): Show a0001c0001 a0001c0002 a0001c0016 a0002c0003 a0003c0006 a0004c0007 a0005c0008 a0006c0013 a0007c0012 a0009c0011 a0012c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0002t0001 a0001c0002t0005 a0001c0002t0009 a0001c0016t0001 a0002c0003t0001 a0003c0006t0005 a0004c0007t0008 a0005c0008t0002 a0006c0013t0002 a0007c0012t0002 a0009c0011t0002 a0012c0014t0002	a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0120 others(102): Show a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0120 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0139 a0001c0001t0001g0146 a0001c0001t0001g0151 a0001c0001t0001g0156 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0179 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0203 a0001c0001t0001g0222 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0233 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0244 a0001c0001t0001g0247 a0001c0001t0001g0255 a0001c0001t0001g0264 a0001c0001t0001g0266 a0001c0001t0001g0268 a0001c0001t0001g0273 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0280 a0001c0001t0002g0099 a0001c0001t0002g0103 a0001c0001t0002g0113 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0129 a0001c0001t0002g0132 a0001c0001t0002g0141 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0147 a0001c0001t0002g0162 a0001c0001t0002g0164 a0001c0001t0002g0171 a0001c0001t0002g0177 a0001c0001t0002g0193 a0001c0001t0002g0195 a0001c0001t0002g0197 a0001c0001t0002g0199 a0001c0001t0002g0205 a0001c0001t0002g0208 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0224 a0001c0001t0002g0226 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0234 a0001c0001t0002g0237 a0001c0001t0002g0256 a0001c0001t0002g0259 a0001c0001t0002g0262 a0001c0001t0002g0272 a0001c0001t0002g0274 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0004g0048 a0001c0001t0006g0288 a0001c0002t0001g0001 a0001c0002t0001g0116 a0001c0002t0001g0140 a0001c0002t0001g0158 a0001c0002t0001g0159 a0001c0002t0001g0200 a0001c0002t0001g0215 a0001c0002t0001g0221 a0001c0002t0001g0242 a0001c0002t0001g0254 a0001c0002t0001g0275 a0001c0002t0005g0239 a0001c0002t0005g0281 a0001c0002t0009g0276 a0001c0016t0001g0284 a0002c0003t0001g0096 a0002c0003t0001g0117 a0003c0006t0005g0152 a0003c0006t0005g0168 a0003c0006t0005g0267 a0004c0007t0008g0095 a0005c0008t0002g0142 a0006c0013t0002g0223 a0007c0012t0002g0227 a0009c0011t0002g0216 a0012c0014t0002g0104	106	290	0.3655	362	c.-98 others(371): Show c.-981_-980insTGCGTAAGGGCCAGTTACAGAGAGTCGGGTCAGCCA TGTAAGGGTAGATTCAGGCTTTCCTGTCTGAGCCTCTGAGTTGCAGTACC CAGACATGTAATGAATCCTCCTCCACCTCCAATGCCCTCCTCTGTCAAAT GGACATCGTATCACCTAGGGGTGTGGGGGAGAATTAAATGAGCTGATGTA CTTAAAGTGCCTGGGAGAAAGATCAAGAAAGGAGGAGAGAGAAGAAGGAA GGGAGTGGGCACCAGTGCAGACTAAGGAAAATTGAGTTTGCAAGACCCAT CTAGTGCTGGGCCCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGG CCGAGGTGAGAGGATCTCTTGAGCCC	SCTR	ENSG00000080293.10	transcript	ENST00000019103.8	protein_coding		724		chr2	TogoVar
SCTR_chr2_119434843_119529483	119525231	G G	AGCCTCCC others(355): Show AGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGGGCCCAGCACT AGATGGGTCTTGCAAACTCAATTTTCCTTAGTCTGCACTGGTGCCCACTC CCTTCCTTCTTCTCTCTCCTCCTTTCTTGATCTTTCTCCCAGGCACTTTA AGTACATCAGCTCATTTAATTCTCCCCCACACCCCTAGGTGATACGATGT CCATTTGACAGAGGAGGGCATTGGAGGTGGAGAAGGATTCATTACATGTC TGGGTACTGCAACTCAGAGGCTCAGACAGGAAAGCCTGAATCTACCCTTA CATGGCTGACCCGACTCTCTGTAACTGGCCCTTACGCAGGGCTCAAGAGA TCCTCTCACCTCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0263 a0001c0001t0002g0263	1	290	0.0035	362	c.-10 others(373): Show c.-1005_-1004insGAGGTGAGAGGATCTCTTGAGCCCTGCGTAAGGG CCAGTTACAGAGAGTCGGGTCAGCCATGTAAGGGTAGATTCAGGCTTTCC TGTCTGAGCCTCTGAGTTGCAGTACCCAGACATGTAATGAATCCTTCTCC ACCTCCAATGCCCTCCTCTGTCAAATGGACATCGTATCACCTAGGGGTGT GGGGGAGAATTAAATGAGCTGATGTACTTAAAGTGCCTGGGAGAAAGATC AAGAAAGGAGGAGAGAGAAGAAGGAAGGGAGTGGGCACCAGTGCAGACTA AGGAAAATTGAGTTTGCAAGACCCATCTAGTGCTGGGCCCAGTGGCTCAT GCCTGTAATCCCAGCACTTTGGGAGGCT	SCTR	ENSG00000080293.10	transcript	ENST00000019103.8	protein_coding		748		chr2	TogoVar
SCTR_chr2_119434843_119529483	119525231	G G	AGCCTCCC others(355): Show AGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGGGCCCAGCACT AGATGGGTCTTGCAAACTCAATTTTCCTTAGTCTGCACTGGTGCCCACTC CCTTCCTTCTTCTCTCTCCTCCTTTCTTGATCTTTCTCCCAGGCACTTTA AGTACATCAGCTCATTTAATTCTCCCCCACACCCCTAGGTGATACGATGT CCATTTGACAGAGGAGGGCATTGGAGGTGGAGGAGGATTCATTACATGTC TGGGTACTGCAACTCAGAGGCTCAGACAGGAAAGCCTGAATCTACCCTTA CATGGCTGACCCGACTCTCTGTAACTGGCCCTTACGCAGGGCTCAAGAGA TCCTCTCACCTCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG02129.hp2 HG02280.hp1 others(17): Show HG01891.hp2 HG02129.hp2 HG02280.hp1 HG02559.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG03098.hp2 HG03225.hp1 HG03453.hp2 HG03486.hp2 HG03516.hp1 NA18612.hp1 NA18941.hp2 NA18948.hp1 NA18974.hp2 NA18990.hp1 NA18990.hp2 NA21309.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0001c0002 a0010c0010 a0001c0001 a0001c0002 a0010c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0002t0001 a0001c0002t0005 a0010c0010t0001	a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0143 others(17): Show a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0143 a0001c0001t0001g0153 a0001c0001t0001g0163 a0001c0001t0001g0207 a0001c0001t0001g0261 a0001c0001t0002g0154 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0236 a0001c0001t0002g0246 a0001c0001t0002g0270 a0001c0001t0002g0279 a0001c0001t0006g0286 a0001c0002t0001g0178 a0001c0002t0001g0211 a0001c0002t0005g0097 a0001c0002t0005g0098 a0010c0010t0001g0257	20	290	0.0690	362	c.-10 others(373): Show c.-1005_-1004insGAGGTGAGAGGATCTCTTGAGCCCTGCGTAAGGG CCAGTTACAGAGAGTCGGGTCAGCCATGTAAGGGTAGATTCAGGCTTTCC TGTCTGAGCCTCTGAGTTGCAGTACCCAGACATGTAATGAATCCTCCTCC ACCTCCAATGCCCTCCTCTGTCAAATGGACATCGTATCACCTAGGGGTGT GGGGGAGAATTAAATGAGCTGATGTACTTAAAGTGCCTGGGAGAAAGATC AAGAAAGGAGGAGAGAGAAGAAGGAAGGGAGTGGGCACCAGTGCAGACTA AGGAAAATTGAGTTTGCAAGACCCATCTAGTGCTGGGCCCAGTGGCTCAT GCCTGTAATCCCAGCACTTTGGGAGGCT	SCTR	ENSG00000080293.10	transcript	ENST00000019103.8	protein_coding		748		chr2	TogoVar
SEL1L2_chr20_13844247_13995614	13934476	C C	CATATATA others(355): Show CATATATATATATTCCATATATATATATTCCATATATATATATTCCATAT ATATATATTCCATATATATATATTCCATATATATATATTCCATATATATA TATTCCATATATATATATTCCATATATATATATTCCATATATATATATTC CATATATATATATTCCATATATATATATTCCATATATATATATTCCCTAT ATATATATTCCATATATATATATTCCATATATATATTCCATATATATATA TTCCATATATATATATTTCATATATATATATTCCATATATATATTCCATA TATATATTCCATATATATATATATTCCATATATATATATATTCCATATAT ATATATTCCATAT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	324	0.0031	362	c.115 others(379): Show c.115-2706_115-2705insATATGGAATATATATATATGGAATATAT ATATATATGGAATATATATATATATGGAATATATATATGGAATATATATA TGGAATATATATATATGAAATATATATATATGGAATATATATATATGGAA TATATATATGGAATATATATATATGGAATATATATATAGGGAATATATAT ATATGGAATATATATATATGGAATATATATATATGGAATATATATATATG GAATATATATATATGGAATATATATATATGGAATATATATATATGGAATA TATATATATGGAATATATATATATGGAATATATATATATGGAATATATAT ATATGGAATATATATATATGGAATATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13934476	C C	CATATATA others(355): Show CATATATATATATTCCATATATATATATTCCATATATATATATTCCATAT ATATATATTCCATATATATATATTCCCTATATATATATTCCATATATATA TATTCCCTATATATATATTCCATATATATATATTCCCTATATATATATTC CCTATATATATATTCCATATATATATATTCCATATATATATTCCATATAT ATATATTCCATATATATATATTTCATATATATATATTCCATATATATATT CCATATATATATTCCATATATATATATATTCCATATATATATATATTCCA TATATATATATTCCATATATATATATATATATATATTCCATATATATATA TATATATATATAT	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA19001.hp2 NA19079.hp2 NA18998.hp1 NA19001.hp2 NA19079.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0085 a0004c0006t0001g0088 a0004c0006t0001g0089 a0004c0006t0001g0085 a0004c0006t0001g0088 a0004c0006t0001g0089	3	324	0.0093	362	c.115 others(379): Show c.115-2706_115-2705insATATATATATATATATATATATATGGAA TATATATATATATATATATATGGAATATATATATATGGAATATATATATA TATGGAATATATATATATATGGAATATATATATGGAATATATATATGGAA TATATATATATGAAATATATATATATGGAATATATATATATGGAATATAT ATATGGAATATATATATATGGAATATATATATAGGGAATATATATATAGG GAATATATATATATGGAATATATATATAGGGAATATATATATATGGAATA TATATATAGGGAATATATATATATGGAATATATATATATGGAATATATAT ATATGGAATATATATATATGGAATATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13934476	C C	CATATATA others(355): Show CATATATATATATTCCATATATATATATTCCATATATATATATTCCCTAT ATATATATTCCATATATATATATTCCCTATATATATATTCCCTATATATA TATTCCATATATATATATTCCCTATATATATATTCCCTATATATATATTC CCTATATATATATTCCCTATATATATATTCCATATATATATTCCATATAT ATATATTCCATATATATATATTTCATATATATATATTCCATATATATATT CCATATATATATTCCATATATATATATATTCCATATATATATATATTCCA TATATATATATTCCATATATATATATATATATATATTCCATATATATATA TATATATATATAT	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03834.hp1 HG03831.hp2 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0112 a0001c0001t0001g0102 a0001c0001t0001g0112	2	324	0.0062	362	c.115 others(379): Show c.115-2706_115-2705insATATATATATATATATATATATATGGAA TATATATATATATATATATATGGAATATATATATATGGAATATATATATA TATGGAATATATATATATATGGAATATATATATGGAATATATATATGGAA TATATATATATGAAATATATATATATGGAATATATATATATGGAATATAT ATATGGAATATATATATAGGGAATATATATATAGGGAATATATATATAGG GAATATATATATAGGGAATATATATATATGGAATATATATATAGGGAATA TATATATAGGGAATATATATATATGGAATATATATATAGGGAATATATAT ATATGGAATATATATATATGGAATATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEMA3A_chr7_83950777_84199789	84086468	T T	TATATTAT others(355): Show TATATTATTATATTATATTTACATATAATATATTATTATATTATATTTAC ATATAATATATTATTATATTATATTTACATATAATATATTATTATATTAT ATTTACATATAATATATTATTATATTATATTTACATATAATATATTATTA TATTATATTTACATATAATATATTATTATATTATATTTACATATAATATA TTATTATATTATATTTACATATAATATATTATTATATTATATTTACATAT AATATATTATTATATTATATTTACATATAATATATTATTATATTATATTT ACATATAATATATTATTATATTATATTTACATATAATATATTATTATATT ATATTTACATATA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02809.hp2 NA19043.hp2 HG02280.hp1 HG02809.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0003t0008 a0001c0001t0004 a0001c0003t0008	a0001c0001t0004g0214 a0001c0001t0004g0223 a0001c0003t0008g0076 a0001c0001t0004g0214 a0001c0001t0004g0223 a0001c0003t0008g0076	3	276	0.0109	362	c.453 others(381): Show c.453+24001_453+24002insTATATGTAAATATAATATAATAATAT ATTATATGTAAATATAATATAATAATATATTATATGTAAATATAATATAA TAATATATTATATGTAAATATAATATAATAATATATTATATGTAAATATA ATATAATAATATATTATATGTAAATATAATATAATAATATATTATATGTA AATATAATATAATAATATATTATATGTAAATATAATATAATAATATATTA TATGTAAATATAATATAATAATATATTATATGTAAATATAATATAATAAT ATATTATATGTAAATATAATATAATAATATATTATATGTAAATATAATAT AATAATATATTATATGTAAATATAATATAATAATAT	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	4/16			chr7	TogoVar
SHISA5_chr3_48462876_48509174	48486239	C C	CATATATT others(355): Show CATATATTATATACTATATATATATTATATATATTATATATTATATACTA TATATATTATATATACTATAGTATATATTATATAATATATATAATATAGT ATATATTATATAATATATATAATATAGTATATATTATATAATATATATAA TATAGTATATATTATATAATATATATAATATAGTATATATTATATAATAT ATAATATAGTATATATAGTATATAATACATTATATGTTATATAACATATA ATGTATTATATATAATATATAATACATTATATGTTATATAACATATAATG TATTATATATTATATGTTATATAATATATAATACATTATATGTTATATAA CATATAATGTATT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	290	0.0035	362	c.234 others(379): Show c.234-6983_234-6982insAATACATTATATGTTATATAACATATAA TGTATTATATATTATATAACATATAATATATAATACATTATATGTTATAT AACATATAATGTATTATATATTATATATAATACATTATATGTTATATAAC ATATAATGTATTATATACTATATATACTATATTATATATTATATAATATA TACTATATTATATATATTATATAATATATACTATATTATATATATTATAT AATATATACTATATTATATATATTATATAATATATACTATATTATATATA TTATATAATATATACTATAGTATATATAATATATATAGTATATAATATAT AATATATATAATATATATATAGTATATAATATAT	SHISA5	ENSG00000164054.17	transcript	ENST00000296444.7	protein_coding	2/5			chr3	TogoVar
SIGIRR_chr11_400716_419999	401882	C C	CGCTCACC others(355): Show CGCTCACCCCCGACCCGCTCACCCCGGGCCCCGCTCACACCCGCCCCGCT CACACCCGACCCGCTCACACCCGACCCGCTCACCCCCGACCCGCTCACCC CCCGACCCGCTCACCCCAGCCCCGCTCACCCCCCGACCCGCTCACCCCGG ACCCCGCTCACACCGGACCCCGCTCACACCCGGCCCCGCTCACACCCGAC CCGCTCACCCCCGACCCGCTCACCCCCGACCCCGCTCACCCCGGGCCCCG CTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGACCCGCTCA CACCCGACCCGCTCACCCCCGGCCCCGCTCACCCCGGCCCCGCTCACCCC GGCCCCGCTCACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	242	0.0041	362	c.40 others(373): Show c.4013_*4014insTGTGAGCGGGGCCGGGGTGAGCGGGGCCGGGGTG AGCGGGGCCGGGGGTGAGCGGGTCGGGTGTGAGCGGGTCGGGTGTGAGCG GGGCCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCCGGGGTGAGCGGGG TCGGGGGTGAGCGGGTCGGGGGTGAGCGGGTCGGGTGTGAGCGGGGCCGG GTGTGAGCGGGGTCCGGTGTGAGCGGGGTCCGGGGTGAGCGGGTCGGGGG GTGAGCGGGGCTGGGGTGAGCGGGTCGGGGGGTGAGCGGGTCGGGGGTGA GCGGGTCGGGTGTGAGCGGGTCGGGTGTGAGCGGGGCGGGTGTGAGCGGG GCCCGGGGTGAGCGGGTCGGGGGTGAGC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3833		chr11	TogoVar
SIGIRR_chr11_400716_419999	412377	C C	CCAGCTCT others(355): Show CCAGCTCTGACCATGTCTGGATACAGTCGGCCGGGGGTGCCCAGCTCTGA CCATGTCTGGATGCAGTCGGGGGGTGCCCAGCTCTGACCATGTCTGGATA CAGTCGGTGGGGGTTGCCCAGCTCTGACCATGTCTGGATACAGTCGGTGG GGGGGGGGGGTGCCCAGCTCTGACCATATCTGGATGCAGTCGGGGAGGGG TGCTCAGCTCTGACCATTTCTGGATGCAGTCGGGGGGTGCCCAGCTCTGA CCATGTCTGGATACAGTCGGGCGGGGGGGTGCTCAGCTCTGACCATGTCT GGATGCAGTCGGGGGGTGCCCAGCTCTGACCATGTCTGGATACAGTCGGG CGGGGGGGGTGCT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0121 a0004c0007t0001g0121	1	242	0.0041	362	c.-15 others(381): Show c.-153-2351_-153-2350insAGCACCCCCCCCGCCCGACTGTATCC AGACATGGTCAGAGCTGGGCACCCCCCGACTGCATCCAGACATGGTCAGA GCTGAGCACCCCCCCGCCCGACTGTATCCAGACATGGTCAGAGCTGGGCA CCCCCCGACTGCATCCAGAAATGGTCAGAGCTGAGCACCCCTCCCCGACT GCATCCAGATATGGTCAGAGCTGGGCACCCCCCCCCCCCACCGACTGTAT CCAGACATGGTCAGAGCTGGGCAACCCCCACCGACTGTATCCAGACATGG TCAGAGCTGGGCACCCCCCGACTGCATCCAGACATGGTCAGAGCTGGGCA CCCCCGGCCGACTGTATCCAGACATGGTCAGAGCTG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SLAIN1_chr13_77692687_77769229	77704211	T T	TATGTTTT others(355): Show TATGTTTTATATGTATATATACATAGAAAATATATATACATGTTTTATAT GTATATATATACATAGAAAATATATATACATGTTTTATATGTATATATAT ACATAGAAAATATATATACATGTTTTATATGTATATATATACATAGAAAA TATATATACATATGTTTTATATGTATATATATACATAGAAAATATATATA CATATGTTTTATATGTATATATATACATAGAAAATATATGTACATATGTT TTCTATGTATATATACATAGAAAATATATGTACATATGTTTTATATGTAT ATATACATAGAAAATATATGTACATATGTTTTATATGTATATATACATAG AAAATATATATAC	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	300	0.0033	362	c.626 others(379): Show c.626+5706_626+5707insATACATGTTTTATATGTATATATATACA TAGAAAATATATATACATGTTTTATATGTATATATATACATAGAAAATAT ATATACATGTTTTATATGTATATATATACATAGAAAATATATATACATAT GTTTTATATGTATATATATACATAGAAAATATATATACATATGTTTTATA TGTATATATATACATAGAAAATATATGTACATATGTTTTCTATGTATATA TACATAGAAAATATATGTACATATGTTTTATATGTATATATACATAGAAA ATATATGTACATATGTTTTATATGTATATATACATAGAAAATATATATAC ATGTTTTATATGTATATATACATAGAAAATATAT	SLAIN1	ENSG00000139737.23	transcript	ENST00000418532.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
SLC12A7_chr5_1045384_1117063	1073173	G G	GAGCCCCC others(355): Show GAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCAGTGAGCCCCCA GCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGG GCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGGCATCACAC TTATGCAGCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGC CCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGA GCCCCCAGCACACGGGCATCACACTTATGCAGCCCCAGTGAACCCCCAGC ACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGC ATCACACTTATGC	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0005 a0001c0010t0005	a0001c0010t0005g0024 a0001c0010t0005g0024	1	118	0.0085	362	c.224 others(379): Show c.2241+459_2241+460insGCATAAGTGTGATGCCCGTGTGCTGGGG GCTCACTGGGGGCTGCATAAGTGTGATGCCCGTGTGCTGGGGGTTCACTG GGGCTGCATAAGTGTGATGCCCGTGTGCTGGGGGCTCACTGGGGGCTGCA TAAGTGTGATGCCCGTGTGCTGGGGGCTCACTGGGGCTGCATAAGTGTGA TGCCCGTGTGCTGGGGGCTCACTGGGGCTGCATAAGTGTGATGCCCGTGT GCTGGGGGCTCACTGGGGCTGCATAAGTGTGATGCCCGTGTGCTGGGGGC TCACTGGGGGCTGCATAAGTGTGATGCCCGTGTGCTGGGGGCTCACTGGG GCTGCATAAGTGTGATGCCCGTGTGCTGGGGGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC17A5_chr6_73588379_73658992	73632008	T T	TAAGAATG others(355): Show TAAGAATGCAGTCTGGTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGA CCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA AAAATTAGCCGGGCGCGGTGGCGGGCGCTTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAG CCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAG ACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01167.hp2 HG01175.hp2 others(5): Show HG00099.hp1 HG01167.hp2 HG01175.hp2 HG01433.hp2 HG03239.hp2 NA18970.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0008 a0001c0001 a0003c0008	a0001c0001t0004 a0003c0008t0004 a0001c0001t0004 a0003c0008t0004	a0001c0001t0004g0003 a0001c0001t0004g0037 a0001c0001t0004g0042 others(4): Show a0001c0001t0004g0003 a0001c0001t0004g0037 a0001c0001t0004g0042 a0001c0001t0004g0046 a0001c0001t0004g0052 a0001c0001t0004g0056 a0003c0008t0004g0038	8	324	0.0247	362	c.819 others(379): Show c.819+3373_819+3374insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC AGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCC GCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAAGCGCCCGCCACCGCGCCCGGCTAATTTTTTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCCAACCAGACTGCATTCTT	SLC17A5	ENSG00000119899.13	transcript	ENST00000355773.6	protein_coding	6/10			chr6	TogoVar
SLC25A18_chr22_17558498_17595995	17567654	C C	CTATCCTT others(355): Show CTATCCTTGCTTTTATTTATTTATTTATTTATTTATTTATTTATTTATTT TATTTTATTTTATTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCA GGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCG CTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGA CCACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCAT GATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCCT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02080.hp2 HG02132.hp2 others(5): Show HG00597.hp2 HG02080.hp2 HG02132.hp2 HG02165.hp1 HG02809.hp1 HG03927.hp1 NA18998.hp1 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0001 a0001c0001t0002 a0001c0001t0006	a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 others(5): Show a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0002g0229 a0001c0001t0006g0085	8	410	0.0195	362	c.-26 others(381): Show c.-263-2255_-263-2254insTTATTTATTTATTTATTTATTTATTT ATTTATTTTATTTTATTTTATTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGC AAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACCACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCT GACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCTTATCCTTGCTTTTAT	SLC25A18	ENSG00000182902.14	transcript	ENST00000327451.11	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr22	TogoVar
SLCO3A1_chr15_91848708_92170903	92143422	A A	ATTATATA others(355): Show ATTATATATAAAATATATATATTATATAATATATATATAAAATATATATT ATATAATATATATAAAATATATATATTATATAATATATATATAAAATATA TATATTATATAATATATATATAAAATATATATATTATATATTATATAATA TATATATAAAATATATATAATATATAATATATGTAATATTATATATATTA TATATTATATATATTATATATTATATATATTATATATAATATATATTATA TATTATATATATTATATATAATATATATTATATATTATATATATTATATA TAATATATTATATATAATATATATAATATATTATATATAATATATATAAT ATATTATATATAT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0162 a0001c0002t0014g0164 a0001c0002t0014g0162 a0001c0002t0014g0164	2	190	0.0105	362	c.151 others(381): Show c.1513-3561_1513-3560insTATATATAAAATATATATATTATATA ATATATATATAAAATATATATTATATAATATATATAAAATATATATATTA TATAATATATATATAAAATATATATATTATATAATATATATATAAAATAT ATATATTATATATTATATAATATATATATAAAATATATATAATATATAAT ATATGTAATATTATATATATTATATATTATATATATTATATATTATATAT ATTATATATAATATATATTATATATTATATATATTATATATAATATATAT TATATATTATATATATTATATATAATATATTATATATAATATATATAATA TATTATATATAATATATATAATATATTATATATATT	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLCO3A1_chr15_91848708_92170903	92143422	A A	ATTATATA others(355): Show ATTATATATAAAATATATATATTATATAATATATATATAAAATATATATT ATATAATATATATATAAAATATATATATTATATAATATATATATAAAATA TATATATTATATAATATATATATAAAATATATATATTATATATTATATAA TATATATATAAAATATATATAATATATAATATATGTAATATTATATATAT TATATATTATATATATTATATATTATATATATTATATATAATATATATTA TATATTATATATATTATATATAATATATTATATATAATATATATAATATA TTATATATAATATATATAATATATTATATATAATATATAATATATATAAT ATATTATATATAT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0013 a0001c0001t0039g0013	1	190	0.0053	362	c.151 others(381): Show c.1513-3561_1513-3560insTATATATAAAATATATATATTATATA ATATATATATAAAATATATATTATATAATATATATATAAAATATATATAT TATATAATATATATATAAAATATATATATTATATAATATATATATAAAAT ATATATATTATATATTATATAATATATATATAAAATATATATAATATATA ATATATGTAATATTATATATATTATATATTATATATATTATATATTATAT ATATTATATATAATATATATTATATATTATATATATTATATATAATATAT TATATATAATATATATAATATATTATATATAATATATATAATATATTATA TATAATATATAATATATATAATATATTATATATATT	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SNX29_chr16_11971734_12579287	12322942	G G	GGTCACTG others(355): Show GGTCACTGGAGTCACCGGGGACCACTGTCAGGATGCGGTCACTGGAGTCA CTGGGGACCACTGTCAGGATGTGGTCACTGGAGTCACTGGAGTCACCGAT GACCACTGTCAGGATGTGGTCACTAGAGGACCACTGTCAGGATGCGGTCA CTAGGGGACCACTGTCAGGATGCGGTCACTGGAGTCACTGGGGACCACTG TCAGGATGCGGTCACTGGAGTCACCGGGGACCACTGTCAGGATGCGGTCA CTGGAGTCACCGGGGACCACTGTCAGGATGCGGTCACTGGAGTCACTGCG GACCACTGTCAGGATGCGGTCACTGGAGTCACTGGGGACCACTGTCAGGA TGTGGTCACTGGA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00438.hp1 others(39): Show HG00140.hp2 HG00323.hp1 HG00438.hp1 HG00639.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01175.hp2 HG01257.hp1 HG01261.hp1 HG01358.hp2 HG01433.hp1 HG01891.hp2 HG02109.hp1 HG02622.hp2 HG02683.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG03098.hp1 HG03209.hp1 HG03471.hp2 HG03490.hp2 HG03704.hp2 HG03710.hp1 HG03834.hp1 HG06807.hp1 NA18906.hp2 NA18979.hp1 NA18986.hp2 NA19060.hp1 NA19085.hp2 NA19090.hp2 NA20129.hp2 NA20300.hp2 NA20805.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0014 a0001c0023 a0001c0025 a0002c0005	a0001c0001t0001 a0001c0001t0004 a0001c0001t0031 others(30): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0031 a0001c0001t0048 a0001c0001t0102 a0001c0001t0110 a0001c0002t0003 a0001c0002t0005 a0001c0002t0018 a0001c0002t0066 a0001c0002t0073 a0001c0002t0076 a0001c0002t0088 a0001c0002t0106 a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0001c0003t0016 a0001c0003t0025 a0001c0003t0026 a0001c0003t0043 a0001c0003t0053 a0001c0003t0062 a0001c0004t0003 a0001c0004t0020 a0001c0004t0071 a0001c0004t0083 a0001c0004t0092 a0001c0004t0105 a0001c0014t0015 a0001c0023t0008 a0001c0025t0096 a0002c0005t0045	a0001c0001t0001g0112 a0001c0001t0001g0163 a0001c0001t0004g0078 others(39): Show a0001c0001t0001g0112 a0001c0001t0001g0163 a0001c0001t0004g0078 a0001c0001t0031g0143 a0001c0001t0048g0052 a0001c0001t0102g0001 a0001c0001t0110g0162 a0001c0002t0003g0134 a0001c0002t0005g0032 a0001c0002t0005g0084 a0001c0002t0018g0034 a0001c0002t0066g0106 a0001c0002t0073g0096 a0001c0002t0076g0100 a0001c0002t0088g0018 a0001c0002t0106g0123 a0001c0003t0001g0103 a0001c0003t0001g0154 a0001c0003t0002g0058 a0001c0003t0002g0077 a0001c0003t0002g0097 a0001c0003t0002g0119 a0001c0003t0004g0092 a0001c0003t0004g0094 a0001c0003t0004g0176 a0001c0003t0016g0005 a0001c0003t0025g0010 a0001c0003t0026g0012 a0001c0003t0043g0074 a0001c0003t0053g0131 a0001c0003t0062g0075 a0001c0004t0003g0138 a0001c0004t0020g0038 a0001c0004t0020g0055 a0001c0004t0071g0109 a0001c0004t0083g0068 a0001c0004t0092g0102 a0001c0004t0105g0042 a0001c0014t0015g0165 a0001c0023t0008g0110 a0001c0025t0096g0076 a0002c0005t0045g0088	42	176	0.2386	362	c.178 others(383): Show c.1783-33171_1783-33170insTGGGGACCACTGTCAGGATGTGGT CACTGGAGTCACTGGAGTCACCGATGACCACTGTCAGGATGTGGTCACTA GAGGACCACTGTCAGGATGCGGTCACTAGGGGACCACTGTCAGGATGCGG TCACTGGAGTCACTGGGGACCACTGTCAGGATGCGGTCACTGGAGTCACC GGGGACCACTGTCAGGATGCGGTCACTGGAGTCACCGGGGACCACTGTCA GGATGCGGTCACTGGAGTCACTGCGGACCACTGTCAGGATGCGGTCACTG GAGTCACTGGGGACCACTGTCAGGATGTGGTCACTGGAGTCACTGGAGTC ACCGGGGACCACTGTCAGGATGCGGTCACTGGAGTCAC	SNX29	ENSG00000048471.14	transcript	ENST00000566228.6	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
SNX29_chr16_11971734_12579287	12322942	G G	GGTCACTG others(355): Show GGTCACTGGAGTCACCGGGGACCACTGTCAGGATGCGGTCACTGGAGTCA CTGGGGACCACTGTCAGGATGTGGTCACTGGAGTCACTGGAGTCACCGAT GACCACTGTCAGGATGTGGTCACTAGAGGACCACTGTCAGGATGCGGTCA CTAGGGGACCACTGTCAGGATGCGGTCACTGGAGTCACTGGGGACCACTG TCAGGATGCGGTCACTGGAGTCACCGGGGACCACTGTCAGGATGCGGTCA CTGGAGTCACCGGGGACCACTTTCAGGATGCGGTCACTGGAGTCACTGCG GACCACTGTCAGGATGCGGTCACTGGAGTCACTGGGGACCACTGTCAGGA TGTGGTCACTGGA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0101 a0001c0001t0017g0101	1	176	0.0057	362	c.178 others(383): Show c.1783-33171_1783-33170insTGGGGACCACTGTCAGGATGTGGT CACTGGAGTCACTGGAGTCACCGATGACCACTGTCAGGATGTGGTCACTA GAGGACCACTGTCAGGATGCGGTCACTAGGGGACCACTGTCAGGATGCGG TCACTGGAGTCACTGGGGACCACTGTCAGGATGCGGTCACTGGAGTCACC GGGGACCACTGTCAGGATGCGGTCACTGGAGTCACCGGGGACCACTTTCA GGATGCGGTCACTGGAGTCACTGCGGACCACTGTCAGGATGCGGTCACTG GAGTCACTGGGGACCACTGTCAGGATGTGGTCACTGGAGTCACTGGAGTC ACCGGGGACCACTGTCAGGATGCGGTCACTGGAGTCAC	SNX29	ENSG00000048471.14	transcript	ENST00000566228.6	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
SNX9_chr6_157818246_157950077	157827087	A A	AACATATA others(355): Show AACATATAGTTTATATAATATATAAACATATATTATAGTTTATATAATAT ATAAACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTA TATAATATATAAACATATATTATAGTTTATATAATATATAAACATATATT ATAGTTTATATAATATATAAACATATAGTTTATATAATATATAAACATAT AGTTTATATAATATATAAACATATATTATAGTTTATATAATATATAAACA TATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAATA TATACACATATATTATAGTTTATATAATATATACACATATATTATAGTTT ATATAATATATAC	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	302	0.0033	362	c.12+ others(377): Show c.12+3648_12+3649insGTTTATATAATATATAAACATATATTATAG TTTATATAATATATAAACATATATTATAGTTTATATAATATATAAACATA TATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATA TAAACATATATTATAGTTTATATAATATATAAACATATAGTTTATATAAT ATATAAACATATAGTTTATATAATATATAAACATATATTATAGTTTATAT AATATATAAACATATATTATAGTTTATATAATATATACACATATATTATA GTTTATATAATATATACACATATATTATAGTTTATATAATATATACACAT ATATTATAGTTTATATAATATATACACATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(355): Show AGGGGAGGGGAGGGAAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGG AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGGGAGGGGAGGGGGAGGGG GGGGAGGGGAGGGGGAGGGGGGGAGGGGAGGGGAGGGGGGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGGGGAGGGGAGGGGGAGGGGGGG GAGGGGAGGGGAGGGGAGGGGGGGGAGGGGAGGGGAGGGGAGGGGGGGAG GGGAGGGGGGGAGGGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGGAGGGG AGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0202 a0002c0002t0001g0202	1	260	0.0039	362	c.138 others(381): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCCCCTCCC CTCCCCTCCCCTCCCCCCCCTCCCCTCCCCTCCCCTCCCCCCCCTCCCCC TCCCCTCCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCC CCCTCCCCTCCCCTCCCCCCCTCCCCCTCCCCTCCCCCCCCTCCCCCTCC CCTCCCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCC CCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCTCCCCCTTCCCTCCCCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
ST6GALNAC6_chr9_127880321_127904603	127882566	G G	GGAAAGGA others(355): Show GGAAAGGAAAGAAGGGAAAGGAAGGGAAGGGAAGCGGGGGGAGGGGAGGA GAGGGGAGGGAAGGGGAGGGGGGGGAAGAAGGGGAGGGGAAGAAGGGGAA GGGAAGAAGGGAAGAAGGGAAGGGAAGAGGGAAGGGAAGAGGGGAAGGGA ACAAGGGAAGGAAAGAAGGGAAGGGAAGAAGGGAAGGGAAGGAAAGAGGG GGAGGGAAGGGGGAAGAGGGGGAGGGAAGAGAGGGAGGGAAGAGGGGAAG GGAAAAAAGGAAGAGAAGAAGGGAAGGGAAGAAGGAAAGAAGGGAAGGGA AGAAAGGAAGGGAAGAAGGGAAGGGAAGGAGGGAAGGGAAGGGAAGAAAG GAAGGGAAGAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	360	0.0028	362	c.40 others(373): Show c.4032_*4033insTTCTCTTCCCTTCCTTTCTTCCCTTCCCTTCCCT CCTTCCCTTCCCTTCTTCCCTTCCTTTCTTCCCTTCCCTTCTTTCCTTCT TCCCTTCCCTTCTTCTCTTCCTTTTTTCCCTTCCCCTCTTCCCTCCCTCT CTTCCCTCCCCCTCTTCCCCCTTCCCTCCCCCTCTTTCCTTCCCTTCCCT TCTTCCCTTCCCTTCTTTCCTTCCCTTGTTCCCTTCCCCTCTTCCCTTCC CTCTTCCCTTCCCTTCTTCCCTTCTTCCCTTCCCCTTCTTCCCCTCCCCT TCTTCCCCCCCCTCCCCTTCCCTCCCCTCTCCTCCCCTCCCCCCGCTTCC CTTCCCTTCCTTTCCCTTCTTTCCTTTC	ST6GALNAC6	ENSG00000160408.16	transcript	ENST00000373146.6	protein_coding		2754		chr9	TogoVar
ST7_chr7_116948501_117235176	117031379	T T	TGTATATA others(355): Show TGTATATATATATGTATATATGTGTATATGTGTGTATATATGTATATATG TGCATATATACGCATATATGCGTATATATGTGCATATATACGCATATATG CGTGTATATGTGCATATATACGCATATATGCGAGTATATGTGCATATATA CGCATATATGTGTGTATATGTGCATATATACGCATATATGTGTGTATATG TGCATATATACGCATATATGTGTGTATATGTGCATATATACGCATATATG TGAGTATATGTGCATATATACGCATATATGTGTGTATATGTGCATATATA CGCATATATGTGTGTATATGTGCATATATACGCATATATGTGTGTATATG TGCATATATACGC	intron_variant intron_variant	MODIFIER	HG02027.hp2 NA18982.hp1 HG02027.hp2 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0082 a0001c0001t0001g0083	2	188	0.0106	362	c.152 others(381): Show c.152-68383_152-68382insGTATATATATATGTATATATGTGTAT ATGTGTGTATATATGTATATATGTGCATATATACGCATATATGCGTATAT ATGTGCATATATACGCATATATGCGTGTATATGTGCATATATACGCATAT ATGCGAGTATATGTGCATATATACGCATATATGTGTGTATATGTGCATAT ATACGCATATATGTGTGTATATGTGCATATATACGCATATATGTGTGTAT ATGTGCATATATACGCATATATGTGAGTATATGTGCATATATACGCATAT ATGTGTGTATATGTGCATATATACGCATATATGTGTGTATATGTGCATAT ATACGCATATATGTGTGTATATGTGCATATATACGC	ST7	ENSG00000004866.22	transcript	ENST00000323984.8	protein_coding	1/15			chr7	TogoVar

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