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
GAL3ST2_chr2_241771822_241809287	241807931	T T	TCCCTCCC others(625): Show TCCCTCCCCCCTCAGCCCAGGGATGTCTGCAGGCCACTCTCCCTCCCCCC TCAGCCCAGGAACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGG ATGTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGG CCACCCTCCCTCCCCCCTCAGCCCAGGGATGTCTGCAGGCCACCCTCCCT CCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGC CCAGGGATGTCTGCAGGCCACTCTCCCTCCCCCCTCAGCCCAGGGATGTC TGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACC CTCCCTCCCCGCTCAGCCCAGGGATGTCTGCAGGCCACCCTCCCTCCCTC CCTCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAACC CAGGGACCTCTGCAGGCCACCCTCCCTCCCTCCTCAGCCCAGGGACCTCT GCAGGCCACCCTCCCTCCCTCCCTCCTCAGCCCAGGGACCTCTGCAGGCC ACCCTCCCTCCCTCCTCCCTCAGCCCAGGGATGTCTGCAGGCCACTCCCC CTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0113 a0002c0002t0001g0113	1	270	0.0037	632	c.37 others(643): Show c.3765_*3766insCCCTCCCCCCTCAGCCCAGGGATGTCTGCAGGCC ACTCTCCCTCCCCCCTCAGCCCAGGAACCTCTGCAGGCCACCCTCCCTCC CCCCTCAGCCCAGGGATGTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCC AGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGATGTCTG CAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCT CCCTCCCCCCTCAGCCCAGGGATGTCTGCAGGCCACTCTCCCTCCCCCCT CAGCCCAGGGATGTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGA CCTCTGCAGGCCACCCTCCCTCCCCGCTCAGCCCAGGGATGTCTGCAGGC CACCCTCCCTCCCTCCCTCCTCAGCCCAGGGACCTCCGCAGGCCACCTTC CCTCCCCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCTCCCTCCTC AGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCTCCCTCCTCAGCCCAG GGACCTCTGCAGGCCACCCTCCCTCCCTCCTCCCTCAGCCCAGGGATGTC TGCAGGCCACTCCCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCA	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		3645		chr2	TogoVar
GALNT9_chr12_132191372_132334589	132241343	C C	CCACACCC others(625): Show CCACACCCCCTTCCCGGGGCCCTCCCTATACCCATTACACACACGCCACA CACCCTTCCCGGGACCCTCCCTATACCAATTACACACACAACACACACCC TTCCAGGGGCCCTCCCTATACCCATTACACACATGCCACACCCCCTTCCC AGGGCCCTCCCTATCCCCATTACACACACAACACACCCCCTTCCAGGGGC CCTCCCTATACCCATTACACACACGCCACACCCCCTTCCTGGGGCCCTCC CTATACCCATTACACACACACCACACACCCTTCCAGGGGCCCTCCCTATA CCCATTACACACACGCCACACACCCTTCCCTTGGCCGTCCCTATACCCAT TACACACACGCCACACCACCTTCCCGGGGCCCTCCCTATACCCATTACAC ACACGCCACACACCCTTACAGGGGCCCTCCCTATACCCATTACACACACG CCACACCCCCTTCCTGGGGACCTCCCTATACCCATTACACACACGCCACA CACCCTTCCCGGGGCCCTCCCTATACCCATTACACACACGCCACACCCCC TTCCCAGGGACCTCCCTATCCCCATTACACACACGCCACACCCCCTTCCC GGGGCCCTCCCTATACCCATTACACACACAACA	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0002 a0001c0012t0002	a0001c0012t0002g0180 a0001c0012t0002g0180	1	178	0.0056	632	c.107 others(651): Show c.1077+6566_1077+6567insTGTTGTGTGTGTAATGGGTATAGGGA GGGCCCCGGGAAGGGGGTGTGGCGTGTGTGTAATGGGGATAGGGAGGTCC CTGGGAAGGGGGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCGGG AAGGGTGTGTGGCGTGTGTGTAATGGGTATAGGGAGGTCCCCAGGAAGGG GGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCTGTAAGGGTGTGT GGCGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGTGGTGTGGCGT GTGTGTAATGGGTATAGGGACGGCCAAGGGAAGGGTGTGTGGCGTGTGTG TAATGGGTATAGGGAGGGCCCCTGGAAGGGTGTGTGGTGTGTGTGTAATG GGTATAGGGAGGGCCCCAGGAAGGGGGTGTGGCGTGTGTGTAATGGGTAT AGGGAGGGCCCCTGGAAGGGGGTGTGTTGTGTGTGTAATGGGGATAGGGA GGGCCCTGGGAAGGGGGTGTGGCATGTGTGTAATGGGTATAGGGAGGGCC CCTGGAAGGGTGTGTGTTGTGTGTGTAATTGGTATAGGGAGGGTCCCGGG AAGGGTGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGG GGTGTG	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GPIHBP1_chr8_143208218_143222170	143218244	C C	CAACACCA others(625): Show CAACACCACCCCCAACACCATCCCAACACCACCCCAACACCACCCCCAAC ACCACCCCCAACACCATCCCCAACACCACCCCCAACACCATCCCCAACAC CCCAATAACCCCCCAACACCACCACCAACACCACCACAACACCACCCCAA CACCATCCCCAACACCACCCCCAACACCATCCCCAACACCCCAATAACCC CCCAACACCACCCCCAACACCACCCCAACACCACCCCCAACACCATCCCC AACACCACCCCCAACACCATCCCCAACACCCCAATAACCCCCCAACACCA CCACCAACACCACCACAACACCATCCCCAACACCACCCCCAACACCATCC CCAACACCCCAATAACCCCCCAACACCACCACCAACACCACCACAACACC ATCCCCAACACCACCCCCAATACCACCCCCACCACCCCCAACACCACCCC AACACCACCCCCAACACCACCCCCACACCGCCCCCACACCAGCCCCAACA CCACCCCCAACACCACCCCCACACCACCCCAATACCTCCCCAACACCACC CCCAACACCACCCCCACACCACCCCCAATACCACCCCCACACCACCCCCA TCGCCCCCAACACCATCCCCAACACCACCCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0005 a0001c0001t0019g0005	1	31	0.0323	632	c.27 others(643): Show c.2726_*2727insAACACCACCCCCAACACCATCCCAACACCACCCC AACACCACCCCCAACACCACCCCCAACACCATCCCCAACACCACCCCCAA CACCATCCCCAACACCCCAATAACCCCCCAACACCACCACCAACACCACC ACAACACCACCCCAACACCATCCCCAACACCACCCCCAACACCATCCCCA ACACCCCAATAACCCCCCAACACCACCCCCAACACCACCCCAACACCACC CCCAACACCATCCCCAACACCACCCCCAACACCATCCCCAACACCCCAAT AACCCCCCAACACCACCACCAACACCACCACAACACCATCCCCAACACCA CCCCCAACACCATCCCCAACACCCCAATAACCCCCCAACACCACCACCAA CACCACCACAACACCATCCCCAACACCACCCCCAATACCACCCCCACCAC CCCCAACACCACCCCAACACCACCCCCAACACCACCCCCACACCGCCCCC ACACCAGCCCCAACACCACCCCCAACACCACCCCCACACCACCCCAATAC CTCCCCAACACCACCCCCAACACCACCCCCACACCACCCCCAATACCACC CCCACACCACCCCCATCGCCCCCAACACCATCCCCAACACCACCCCCA	GPIHBP1	ENSG00000277494.2	transcript	ENST00000622500.2	protein_coding		1075		chr8	TogoVar
GPR173_chrX_53043789_53085615	53073906	T T	TATATAAA others(625): Show TATATAAATATATATATTTATATTTATTTATATATATAAATATATATATT TATATTTATTTATATATATAAATATATATATTTATATTTATATATATATA TAAATATATATATTTATATATATATATAAATATATATATTTATATTTATT TATATATATAAATATATATATTTATATTTATTTATATATATATAAATATA TATATTTATATTTATATTTATATATTTATATTTATATATATAAATATATA TATTTATATTTATTTATATATATAAATATATATATTAATATATATTTATA TATATAAATATATATATTTATATATAAATATATATTTATGTATATTTATA TATAAATATATATAAATATATATATAAATATATATATTTATATATATAAA TATATATATTTATATATAAATATATATATAAATATATATATTTATATATA AATATATATATTTATATATATAAATATATATATTTATATATATAAATATA TATATATTTATATTTACAAATATATATATTTATATATATATTTATATTTA TATATATTTATATTTATATATATATATATAAATATATATTTATGTATATT TATATATAAATATAAATATATATTTATATATAA	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	95	0.0105	632	c.-97 others(649): Show c.-97-2605_-97-2604insATTTATATTTATTTATATATATAAATAT ATATATTTATATTTATTTATATATATAAATATATATATTTATATTTATAT ATATATATAAATATATATATTTATATATATATATAAATATATATATTTAT ATTTATTTATATATATAAATATATATATTTATATTTATTTATATATATAT AAATATATATATTTATATTTATATTTATATATTTATATTTATATATATAA ATATATATATTTATATTTATTTATATATATAAATATATATATTAATATAT ATTTATATATATAAATATATATATTTATATATAAATATATATTTATGTAT ATTTATATATAAATATATATAAATATATATATAAATATATATATTTATAT ATATAAATATATATATTTATATATAAATATATATATAAATATATATATTT ATATATAAATATATATATTTATATATATAAATATATATATTTATATATAT AAATATATATATATTTATATTTACAAATATATATATTTATATATATATTT ATATTTATATATATTTATATTTATATATATATATATAAATATATATTTAT GTATATTTATATATAAATATAAATATATATTTATATATAAATATAAATAT ATAT	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GPR173_chrX_53043789_53085615	53074425	T T	TATATATT others(625): Show TATATATTTATATATATTTATATTTATTTATAAATAAATATATATAAATA TATATTTATATTTATTTATAAATAAATATATATAAATATATATAAATATA TATTTATAAATAAATATATATAAATATATATAAATATATATTTATATTTA TTTATAAATAAATATAAATATATATTTATATTTATTTATAAATAAATATA AATATATATTTATATTTATTTATATATAAATATAAATATATATTTATAGT TATTTATATATAAATATATAAATCTATATATATAAATATAGATTTATATA TATTTATATATAAATAACTATAAATATAGATTTATATATATTTATATATA AATAACTATATAGATTTATATATATTTATATATAAATAACTATATAGATT TATATATATTTATATATAAATAACTATATAGATTTATATATATTTATATA TAAATAACTATATAGATTTATATATATTTATATATAAATAACTATATAGA TTTATATATATTTATATATAAATAACTATATAGATTTATATATATTTATA TATAAATAACTATATAGATTTATATATATTTATATATAAATAACTATATA GATTTATATATATTTATTTATAAATAACTATAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0067 a0001c0001t0012g0067	1	85	0.0118	632	c.-97 others(649): Show c.-97-2095_-97-2094insTTTATATATATTTATATTTATTTATAAA TAAATATATATAAATATATATTTATATTTATTTATAAATAAATATATATA AATATATATAAATATATATTTATAAATAAATATATATAAATATATATAAA TATATATTTATATTTATTTATAAATAAATATAAATATATATTTATATTTA TTTATAAATAAATATAAATATATATTTATATTTATTTATATATAAATATA AATATATATTTATAGTTATTTATATATAAATATATAAATCTATATATATA AATATAGATTTATATATATTTATATATAAATAACTATAAATATAGATTTA TATATATTTATATATAAATAACTATATAGATTTATATATATTTATATATA AATAACTATATAGATTTATATATATTTATATATAAATAACTATATAGATT TATATATATTTATATATAAATAACTATATAGATTTATATATATTTATATA TAAATAACTATATAGATTTATATATATTTATATATAAATAACTATATAGA TTTATATATATTTATATATAAATAACTATATAGATTTATATATATTTATA TATAAATAACTATATAGATTTATATATATTTATTTATAAATAACTATAAA TATA	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
INPP5D_chr2_233055342_233212903	233176499	G G	GGATGGAG others(625): Show GGATGGAGGGACGGATGGATGAATGGGTAGGTGGGTGGGCGGATGGGTGA ATGGGTAGGTGGGTGGGCGGATGGATGGATGGATGAGTAGATGGATGGAT GAACAGGAGAATGGGTGGATGGATGGATGGATGGATGAATGGATGAACAG ATGGTTGGATGGATGAATAGGCGAATGGATAGGTGGGTGGGTGGATGGAT GGATAGATGGATGGATGTGTGGGTGGGTGAATGGATGGATGGATGGGTGG ATAGGTGGATGAATGGATGAATAGATGGAAGGATGGATAGATGGATGGAT AGGTGAATGGGTAGGTGGGTGGGCAGATGGATGGATGGATGGATGGATGA GTAGATGAATGGATGAATAGGAGAATGGGTAGATGGGTGGGTGGATGGAT GGATGGATGTGTGGGTGGGTGGAGGGAAGGATGGATGGATGGATAAATGG ATGGATAGGTGGATGGGTGGATGGAGGGATGGATGGATGGATAGGTAAAT GGGTAGGTGGGTGGGCGGAGGGATGGATGGATGGATGGATGGATGGATGG ATAGGTGAAGGTTAGATGGGTGGGCGGAGGGATGGATGGATGGATGGATA GGTGGATGAATGGATGAATAGATGGATGGATGA	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18995.hp2 NA18982.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0065 a0001c0001t0001g0040 a0001c0001t0001g0065	2	75	0.0267	632	c.199 others(649): Show c.1990-766_1990-765insGATGGAGGGACGGATGGATGAATGGGTA GGTGGGTGGGCGGATGGGTGAATGGGTAGGTGGGTGGGCGGATGGATGGA TGGATGAGTAGATGGATGGATGAACAGGAGAATGGGTGGATGGATGGATG GATGGATGAATGGATGAACAGATGGTTGGATGGATGAATAGGCGAATGGA TAGGTGGGTGGGTGGATGGATGGATAGATGGATGGATGTGTGGGTGGGTG AATGGATGGATGGATGGGTGGATAGGTGGATGAATGGATGAATAGATGGA AGGATGGATAGATGGATGGATAGGTGAATGGGTAGGTGGGTGGGCAGATG GATGGATGGATGGATGGATGAGTAGATGAATGGATGAATAGGAGAATGGG TAGATGGGTGGGTGGATGGATGGATGGATGTGTGGGTGGGTGGAGGGAAG GATGGATGGATGGATAAATGGATGGATAGGTGGATGGGTGGATGGAGGGA TGGATGGATGGATAGGTAAATGGGTAGGTGGGTGGGCGGAGGGATGGATG GATGGATGGATGGATGGATGGATAGGTGAAGGTTAGATGGGTGGGCGGAG GGATGGATGGATGGATGGATAGGTGGATGAATGGATGAATAGATGGATGG ATGA	INPP5D	ENSG00000168918.14	transcript	ENST00000445964.6	protein_coding	17/26			chr2	TogoVar
INPP5D_chr2_233055342_233212903	233176499	G G	GGATGGAG others(625): Show GGATGGAGGGACGGATGGATGAATGGGTAGGTGGGTGGGCGGATGGGTGA ATGGGTAGGTGGGTGGGCGGATGGATGGATGGATGAGTAGATGGATGGAT GAACAGGAGAATGGGTGGATGGATGGATGGATGGATGAATGGATGAACAG ATGGTTGGATGGATGAATAGGCGAATGGATAGGTGGGTGGGTGGATGGAT GGATAGATGGATGGATGTGTGGGTGGGTGAATGGATGGATGGATGGGTGG ATAGGTGGATGAATGGATGAATAGATGGAAGGATGGATAGATGGATGGAT AGGTGAATGGGTAGGTGGGTGGGCAGATGGATGGATGGATGGATGGATGA GTAGATGAATGGATGAATAGGAGAATGGGTAGATGGGTGGGTGGATGGAT GGATGTGTGGGTGGGTGGAGGGAAGGATGGATGGATGGATAAATGGATGG ATAGGTGGATGGGTGGATGGAGGGATGGATGGATGGATAGGTAAATGGGT AGGTGGGTGGGCGGAGGGATGGATGGATGGATGGATGGATGGATGGATGG ATAGGTGAAGGTTAGATGGGTGGGCGGAGGGATGGATGGATGGATGGATA GGTGGATGAATGGATGAATAGATGGATGGATGA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03209.hp1 HG03041.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0201 a0001c0001t0007g0198 a0001c0001t0002g0201 a0001c0001t0007g0198	2	75	0.0267	632	c.199 others(649): Show c.1990-766_1990-765insGATGGAGGGACGGATGGATGAATGGGTA GGTGGGTGGGCGGATGGGTGAATGGGTAGGTGGGTGGGCGGATGGATGGA TGGATGAGTAGATGGATGGATGAACAGGAGAATGGGTGGATGGATGGATG GATGGATGAATGGATGAACAGATGGTTGGATGGATGAATAGGCGAATGGA TAGGTGGGTGGGTGGATGGATGGATAGATGGATGGATGTGTGGGTGGGTG AATGGATGGATGGATGGGTGGATAGGTGGATGAATGGATGAATAGATGGA AGGATGGATAGATGGATGGATAGGTGAATGGGTAGGTGGGTGGGCAGATG GATGGATGGATGGATGGATGAGTAGATGAATGGATGAATAGGAGAATGGG TAGATGGGTGGGTGGATGGATGGATGTGTGGGTGGGTGGAGGGAAGGATG GATGGATGGATAAATGGATGGATAGGTGGATGGGTGGATGGAGGGATGGA TGGATGGATAGGTAAATGGGTAGGTGGGTGGGCGGAGGGATGGATGGATG GATGGATGGATGGATGGATGGATAGGTGAAGGTTAGATGGGTGGGCGGAG GGATGGATGGATGGATGGATAGGTGGATGAATGGATGAATAGATGGATGG ATGA	INPP5D	ENSG00000168918.14	transcript	ENST00000445964.6	protein_coding	17/26			chr2	TogoVar
KHSRP_chr19_6408102_6429811	6429379	A A	AGGGAGGT others(625): Show AGGGAGGTGGAGGGAGAAAAGAGAGGAGGAGGAGGAAGGAAAGAAGGAGA AGGAAGAAGTGAAGGGGGAGAAGGGAGAGGAGGGAGAATAGAGGAGGAGA AAGAGGAGAGGAGGAGGAGGGAGAAAAGATGAGGGGAGGGGGAGGGAGAA AGGAGGAGGGGAGGAGGAGGAAAAGGTGAAAGGGAGGAGGGAGAGGAGGG ACAAAAGAGGAGAAGAGGAGGAGGGAGAAAGGGGAGGAGGAGGAAGTGAA GGGGAGGAGGGAGAAGTGGGAGAAAAGAAGAGAAAGGAGGAGGGAAGGAG GAGGAGGGAGAAAGGAAGGGAGGAGGAGGGAGAAAGGAGGGGAGGAGGAG GGAGAAAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGAAGAGGGG AGGAGGAGAGGAGGAGGGGAGGAGGAGAGAGGAGGAGGGGAGGAGGAGAG AAGAGGAGGGGAGGAGGAGGAGAGGAAGGAGGGGAGGAGGAGAGAAGAGG GGAGGAGGAGAGGAAGGAAGAGAGGAGGAGGAGGAGAGGAAGGAGGAGGG GAGGAGGAGGCAGAAAGGAGGAAGGAGGGGGAGGAGGAGAGGAAAGAGTC CGGGAGGAGGGAGAAGGAGGAGGGAGGAGGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	383	0.0026	632	c.-46 others(643): Show c.-4679_-4678insCCTCCTCCTCCCTCCTCCTTCTCCCTCCTCCCGG ACTCTTTCCTCTCCTCCTCCCCCTCCTTCCTCCTTTCTGCCTCCTCCTCC CCTCCTCCTTCCTCTCCTCCTCCTCCTCTCTTCCTTCCTCTCCTCCTCCC CTCTTCTCTCCTCCTCCCCTCCTTCCTCTCCTCCTCCTCCCCTCCTCTTC TCTCCTCCTCCCCTCCTCCTCTCTCCTCCTCCCCTCCTCCTCTCCTCCTC CCCTCTTCTCTCCTCCTCCCCTCTTCTCTCCTCCTCCCCTCCTTTCTCCC TCCTCCTCCCCTCCTTTCTCCCTCCTCCTCCCTTCCTTTCTCCCTCCTCC TCCTTCCCTCCTCCTTTCTCTTCTTTTCTCCCACTTCTCCCTCCTCCCCT TCACTTCCTCCTCCTCCCCTTTCTCCCTCCTCCTCTTCTCCTCTTTTGTC CCTCCTCTCCCTCCTCCCTTTCACCTTTTCCTCCTCCTCCCCTCCTCCTT TCTCCCTCCCCCTCCCCTCATCTTTTCTCCCTCCTCCTCCTCTCCTCTTT CTCCTCCTCTATTCTCCCTCCTCTCCCTTCTCCCCCTTCACTTCTTCCTT CTCCTTCTTTCCTTCCTCCTCCTCCTCTCTTTTCTCCCTCCACCTCCC	KHSRP	ENSG00000088247.19	transcript	ENST00000600480.2	protein_coding		4569		chr19	TogoVar
KIF16B_chr20_16267104_16578448	16288800	C C	CACAGTAT others(625): Show CACAGTATGTACTGGTGATAAGGTTATTGGGATCCCATCATAAGTGGAAG AGCATCTGTATGGTATGTACCTTAGTAAACACAGTATGTACTGATGATAA GGTTATTGGGATCCCATCATAAGTGGAAGAGCATCTGTATGGTATGTACC TTAGTAAACACAGTATGTACTGGTGATAAGGTTACTGGGATCCCATCATA AGTGGAACAGCATCTGTATGGTATGTACCTTAGTAAACACAGTATGTACT GGTGATAAGGTTACTGGGATCCCATCATAAGTGGAAGAGCATCTGTATGG TATGTACCTTAGTAAACACAGTATGTACTGATGATAAGGTTATTGGGATC CCATCATAAGTGGAAGAGCATCTGTATGGTATGTACCTTAGTAAACACAG TATGTACTGGCGATGGGTTTATTGGGATCCCATCATAAGTGGAAGAGCAT CTGTATGGTATGTACCTCAGTAAGTACAGTATGTACTGGTGATAAGGTTA TTGGGATCCCATCATAAGTGGAAGAGCATCTGTATAGTATGTACCTTAGT AAACACAGTATGTACTGGCGATGGGTTTATTGGGATCCCATCATAAGTGG AAGAGCATCTGTATGGTATGTACCTCAGTAAGT	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02135.hp1 HG02257.hp1 others(6): Show HG02080.hp1 HG02135.hp1 HG02257.hp1 HG02486.hp2 HG02896.hp2 HG02897.hp2 HG03209.hp2 NA19066.hp1 NA19083.hp1	a0001 a0005 a0001 a0005	a0001c0005 a0005c0009 a0001c0005 a0005c0009	a0001c0005t0006 a0005c0009t0002 a0005c0009t0006 others(2): Show a0001c0005t0006 a0005c0009t0002 a0005c0009t0006 a0005c0009t0012 a0005c0009t0014	a0001c0005t0006g0064 a0001c0005t0006g0068 a0001c0005t0006g0171 others(6): Show a0001c0005t0006g0064 a0001c0005t0006g0068 a0001c0005t0006g0171 a0001c0005t0006g0175 a0001c0005t0006g0176 a0005c0009t0002g0056 a0005c0009t0006g0023 a0005c0009t0012g0229 a0005c0009t0014g0001	9	248	0.0363	632	c.379 others(653): Show c.3796-15390_3796-15389insACTTACTGAGGTACATACCATACA GATGCTCTTCCACTTATGATGGGATCCCAATAAACCCATCGCCAGTACAT ACTGTGTTTACTAAGGTACATACTATACAGATGCTCTTCCACTTATGATG GGATCCCAATAACCTTATCACCAGTACATACTGTACTTACTGAGGTACAT ACCATACAGATGCTCTTCCACTTATGATGGGATCCCAATAAACCCATCGC CAGTACATACTGTGTTTACTAAGGTACATACCATACAGATGCTCTTCCAC TTATGATGGGATCCCAATAACCTTATCATCAGTACATACTGTGTTTACTA AGGTACATACCATACAGATGCTCTTCCACTTATGATGGGATCCCAGTAAC CTTATCACCAGTACATACTGTGTTTACTAAGGTACATACCATACAGATGC TGTTCCACTTATGATGGGATCCCAGTAACCTTATCACCAGTACATACTGT GTTTACTAAGGTACATACCATACAGATGCTCTTCCACTTATGATGGGATC CCAATAACCTTATCATCAGTACATACTGTGTTTACTAAGGTACATACCAT ACAGATGCTCTTCCACTTATGATGGGATCCCAATAACCTTATCACCAGTA CATACTGT	KIF16B	ENSG00000089177.20	transcript	ENST00000354981.7	protein_coding	25/25			chr20	TogoVar
KRT82_chr12_52388931_52411335	52409030	C C	CTCCCTCT others(625): Show CTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCTCCTCTCCCTCCTCTC CCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCCTCTCCCCTCTCCCCTCCTCTCCCCTCTCCCTCCTCTCCCTC TCCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTC CCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTC CCTCCCTCTCCCTCCTCTCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCTCCCTCCTCCTCTCCC TCCTCTCCCTCTCCCTCCTCTCCCCTCTCCCTCCCTCTCCTCCTCTCCCT CTCTCCCTCCTCTCCCTCTTCCCTCACTCTCCCTCTCCCTCCTCTCCCTC CCTCTCCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCCTCCTCTCCCTC TCCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCTCCCTCCTCTCCTCTCC CTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCTCCCTCCTCTCCCTC CTCTCCCTCACTCCTCTCCCTCTCCCTCACTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	368	0.0027	632	c.-27 others(643): Show c.-2754_-2753insAGAGTGAGGGAGAGGGAGAGGAGTGAGGGAGAGG AGGGAGAGGAGGGAGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGG GAGAGGAGAGGAGGGAGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGGAG AGGGAGAGGAGGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGGAGAGGG AGGGAGAGGAGGGAGAGGGAGAGTGAGGGAAGAGGGAGAGGAGGGAGAGA GGGAGAGGAGGAGAGGGAGGGAGAGGGGAGAGGAGGGAGAGGGAGAGGAG GGAGAGGAGGAGGGAGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGA GAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGAGAGGAGGGAGAGGGAGGG AGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGG AGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGGAG AGGGAGAGGAGGGAGAGGGGAGAGGAGGGGAGAGGGGAGAGGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGG AGAGGAGGGAGAGGAGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGA	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		2696		chr12	TogoVar
LARS1_chr5_146108034_146187650	146174473	T T	TATATCCA others(625): Show TATATCCATATATATATATATCCATATATATATATCCATATATATATATC CATATATATATCCATATATATATATCCATATATATATCCATATATATATC CATATATATATATCCATATATATATCCATATATATATATCCATATATATA TCCATATATATATATCCATATATATGGATATATATATATCCATATATATC TATCCATATATATATCCATATATATCTATCCATATATATATCCATATATC TATCCATATATATATCCATATATATATATCCATATATATATATATCCATA TATATATCCATATATATATATCCATATATATATATATATCCATATATATA TATATCCATATATATATATCCATATATATATATATCCATATATATATATC CATATATATATATATCCATATATATATATCCATATATATATATATCCATA TATATATATCCATATATATATATATCCATATATATATATATCCATATATA TATATATCCATATATATATATATCCATATATATATATCCATATATATATA TCCATATATATATATATCCATATATATATATATCCATATATATATATATC CATATATATATATCCATATATATATATATATCC	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0242 a0002c0002t0002g0242	1	281	0.0036	632	c.126 others(649): Show c.126-1700_126-1699insGGATATATATATATATATGGATATATAT ATATGGATATATATATATATGGATATATATATATATGGATATATATATAT ATGGATATATATATATGGATATATATATATGGATATATATATATATGGAT ATATATATATATGGATATATATATATATGGATATATATATATATGGATAT ATATATATGGATATATATATATATGGATATATATATATGGATATATATAT ATATGGATATATATATATGGATATATATATATATGGATATATATATATGG ATATATATATATATGGATATATATATATATATGGATATATATATATGGAT ATATATATGGATATATATATATATGGATATATATATATGGATATATATAT GGATAGATATATGGATATATATATGGATAGATATATATGGATATATATAT GGATAGATATATATGGATATATATATATCCATATATATGGATATATATAT ATGGATATATATATGGATATATATATATGGATATATATATGGATATATAT ATATGGATATATATATGGATATATATATGGATATATATATATGGATATAT ATATGGATATATATATATGGATATATATATATGGATATATATATATATGG ATAT	LARS1	ENSG00000133706.20	transcript	ENST00000394434.7	protein_coding	2/31			chr5	TogoVar
LHPP_chr10_124456823_124619141	124471482	T T	TTATATAT others(625): Show TTATATATATATAAATTTTTTTATATTTATATATTTTTTATATATTTATA TATATTACATATATTTTTATATTTATATATTTATATATTTTATATATTTA TATATTTTTTATATATTTATATATTTATATATATATTTATATATATTTAT GTATATTTATATATATATTTATATATATTTATGTATATTTATATATATAT TTATATATATTTATGTATATTTATATATATTTATATATTTATGTATATAT TTATATATATTTATATATTTATGTATAAATTTATATATATTTATATGTAT TTATATATATATTTATATGTATTTATATATTTATATATTTATATGTATTT ATACATATATATTTATATGTATTTATATATATTTATATATATTTTTTATG TATTTATATATATTTATATATATATTTATATATATTTATATATATATTTA TATATATTTATATATATATTTATATATATATTTATATATATTTATATATA TATTTATATATATTTATATATATTTATATATATATTTATATATATTTATA TATATATTTATATATATATTTATATATATTTATATATATTTATATATATA TTTATATATATATTTATATATATATTATTTATA	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0162 a0005c0005t0001g0162	1	164	0.0061	632	c.125 others(649): Show c.125+9502_125+9503insATATAAATTTTTTTATATTTATATATTT TTTATATATTTATATATATTACATATATTTTTATATTTATATATTTATAT ATTTTATATATTTATATATTTTTTATATATTTATATATTTATATATATAT TTATATATATTTATGTATATTTATATATATATTTATATATATTTATGTAT ATTTATATATATATTTATATATATTTATGTATATTTATATATATTTATAT ATTTATGTATATATTTATATATATTTATATATTTATGTATAAATTTATAT ATATTTATATGTATTTATATATATATTTATATGTATTTATATATTTATAT ATTTATATGTATTTATACATATATATTTATATGTATTTATATATATTTAT ATATATTTTTTATGTATTTATATATATTTATATATATATTTATATATATT TATATATATATTTATATATATTTATATATATATTTATATATATATTTATA TATATTTATATATATATTTATATATATTTATATATATTTATATATATATT TATATATATTTATATATATATTTATATATATATTTATATATATTTATATA TATTTATATATATATTTATATATATATTTATATATATATTATTTATATAT ATAT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LMF1_chr16_848634_975984	858988	C C	CAGTGGTG others(625): Show CAGTGGTGTCTCGGGAGGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAG TGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGT GTCAGGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTC TCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTC GGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGG ACGGGTGTGCGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACG GGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGG TGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGATGGGTGT GAGTGGTGTCACGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGAGT GGTGTCTCGGGATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGAGTGGT GTCACGGGATGGGTGTGAGTGGTGTCACGGGACGGGTGTGCAGTGATGTC ACGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGG GACGGGTGTGAGTGGTGTCACGGGACGGGTGTG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0027 a0001c0002t0001g0027	1	262	0.0038	632	c.153 others(651): Show c.1530-4283_1530-4282insCACACCCGTCCCGTGACACCACTCAC ACCCGTCCCGAGACACCACTCACACCCGTCCCGTGACACCACTCACACCC GTCCCGTGACATCACTGCACACCCGTCCCGTGACACCACTCACACCCATC CCGTGACACCACTCACACCCATCCCGAGACACCACTGCACACCCATCCCG AGACACCACTCACACCCATCCCGAGACACCACTCACACCCATCCCGTGAC ACCACTCACACCCATCCCGAGACACCACTGCACACCCGTCCCGAGACACC ACTCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACT GCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACGCA CACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTCACAC CCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTGCACACCC GTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTGCACACCCGTC CCCTGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGT GACACCACTCACACCCGTCCCGAGACACCACTGCACACCCCTCCCGAGAC ACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
MBD3L3_chr19_7051207_7063676	7061804	A A	AATATATA others(625): Show AATATATAAATTATATATAATATATAATATAATTATATAATATATAATTA TATTCTATATAGAATATAATTATATAATATATAATTATATTATATATTAT ATAATTATAATATAATATATAATATAATTATATTATATATAATTATATTA AACATATTATATAATATATAATTATATTATATATTATATAATATATAATT ATATTATATATTATATAATCTATAATTATATTATATATTATATAATCTAT AATTATATTATATATTATATAATCTATAATTATATTATATATTATATAAT ATATAATTATATTATATATTATATAATATATAATTATATTATATATTATA TAATATATAATTATATTATATATTATAATACATTTAATATAATTATATTA TAGATTATAATCTATAATATAATTATATTAATAGTATTATAATATATAAT ATATTATATATAATTATATTATAACTTATTATATATAATTATATTATAGA TCATAATCTATAATATAATTATATATAATATGTTATAATATATAATTATA TTCTATATATAATTATATATAATATAATTATATTCTATATATAATATAAT TATATATAATTATATTCTATATAGAATATAATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	108	0.0093	632	c.-32 others(643): Show c.-3200_-3199insAATTATATTCTATATAGAATATAATTATATATAA TTATATTATATATAGAATATAATTATATTATATATAATTATATATAGAAT ATAATTATATATTATAACATATTATATATAATTATATTATAGATTATGAT CTATAATATAATTATATATAATAAGTTATAATATAATTATATATAATATA TTATATATTATAATACTATTAATATAATTATATTATAGATTATAATCTAT AATATAATTATATTAAATGTATTATAATATATAATATAATTATATATTAT ATAATATATAATATAATTATATATTATATAATATATAATATAATTATATA TTATATAATATATAATATAATTATAGATTATATAATATATAATATAATTA TAGATTATATAATATATAATATAATTATAGATTATATAATATATAATATA ATTATATATTATATAATATATAATATAATTATATATTATATAATATGTTT AATATAATTATATATAATATAATTATATTATATATTATATTATAATTATA TAATATATAATATAATTATATATTATATAATTATATTCTATATAGAATAT AATTATATATTATATAATTATATTATATATTATATATAATTTATATAT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3129		chr19	TogoVar
MBD3L3_chr19_7051207_7063676	7061804	A A	AATATATA others(625): Show AATATATAAATTATATATAATATATAATATAATTATATAATATATAATTA TATTCTATATAGAATATAATTATATAATATATAATTATATTATATATTAT ATAATTATAATATAATATATAATATAATTATATTATATATAATTATATTA AACATATTATATAATATATAATTATATTATATATTATATAATATATAATT ATATTATATATTATATAATCTATAATTATATTATATATTATATAATCTAT AATTATATTATATATTATATAATCTATAATTATATTATATATTATATAAT CTATAATTATATTATATATTATATAATATATAATTATATTATATATTATA TAATATATAATTATATTATATATTATAATACATTTAATATAATTATATTA TAGATTATAATCTATAATATAATTATATTAATAGTATTATAATATATAAT ATATTATATATAATTATATTATAACTTATTATATATAATTATATTATAGA TCATAATCTATAATATAATTATATATAATATGTTATAATATATAATTATA TTCTATATATAATTATATATAATATAATTATATTCTATATATAATATAAT TATATATAATTATATTCTATATAGAATATAATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	108	0.0093	632	c.-32 others(643): Show c.-3200_-3199insAATTATATTCTATATAGAATATAATTATATATAA TTATATTATATATAGAATATAATTATATTATATATAATTATATATAGAAT ATAATTATATATTATAACATATTATATATAATTATATTATAGATTATGAT CTATAATATAATTATATATAATAAGTTATAATATAATTATATATAATATA TTATATATTATAATACTATTAATATAATTATATTATAGATTATAATCTAT AATATAATTATATTAAATGTATTATAATATATAATATAATTATATATTAT ATAATATATAATATAATTATATATTATATAATATATAATATAATTATAGA TTATATAATATATAATATAATTATAGATTATATAATATATAATATAATTA TAGATTATATAATATATAATATAATTATAGATTATATAATATATAATATA ATTATATATTATATAATATATAATATAATTATATATTATATAATATGTTT AATATAATTATATATAATATAATTATATTATATATTATATTATAATTATA TAATATATAATATAATTATATATTATATAATTATATTCTATATAGAATAT AATTATATATTATATAATTATATTATATATTATATATAATTTATATAT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3129		chr19	TogoVar
MICALL2_chr7_1429359_1464470	1446334	A A	AGAGGGAG others(625): Show AGAGGGAGAGGAGGGGGGAGGAGTGAGAGAAGGGGGGAGGAGGGGGAAAA GGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGG GGGAGGAGGGAGAGAAGGGGGGAGGAGGGGGAAAAAGGGGGAGGAGGCGG AGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAGA GGAGGGGGGAGGAGGGAGAGAAGGGGGGAGGAGGGGGAAAAAGGGGGAGG AGGCGGAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGA GTGAGAGAAGGGGGGAGGAGGGGGAAAAGGGGAGGAGGCGGAGCAGTAGG GAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGAAGGGGGG AGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAGTGA AGAGGGAGAGGAGGGGGGAGGAGGGAGAGAAGGGGGGAGGAGGGGGAAAA AGGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAG GGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGG AGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAG	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0208 a0001c0002t0001g0208	1	277	0.0036	632	c.641 others(647): Show c.641+378_641+379insCTCCCCCCTCCTCTCCCTCCTCCCCCCTCC TCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCC CCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCC CCTTTTTCCCCCTCCTCCCCCCTTCTCTCCCTCCTCCCCCCTCCTCTCCC TCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCCTTTTTCCCCCT CCTCCCCCCTTCTCTCCCTCCTCCCCCCTCCTCTCCCTCTTCACTCTTCT CTCCCTACTGCTCCGCCTCCTCCCCTTTTCCCCCTCCTCCCCCCTTCTCT CACTCCTCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCG CCTCCTCCCCCTTTTTCCCCCTCCTCCCCCCTTCTCTCCCTCCTCCCCCC TCCTCTCCCTCCTCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACT GCTCCGCCTCCTCCCCCTTTTTCCCCCTCCTCCCCCCTTCTCTCCCTCCT CCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTC CCCTTTTCCCCCTCCTCCCCCCTTCTCTCACTCCTCCCCCCTCCTCTCCC TC	MICALL2	ENSG00000164877.19	transcript	ENST00000297508.8	protein_coding	5/16			chr7	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(625): Show AAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAA GGAGGAAGGCGGAAAGGGGGAGGGGAGAAGGGGAGGGGCAGGGGGAGGGG GAAAAGGGGCGGGGAAGGGGGGAAAAGGGGCAGGGGGAAGGGGGAAAGGG GTGGGGGGAAAGGGGGAAGGGGAAAGGGGTGAGGGGAAAGGGGGAAGGGG GAAAGGGGTGAGGGGAGGATGGAGGGGGAGGGGGAGGGGAGGGGGGAGGG GAGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAGGGGGAG GGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGG AGGGGGAGGGGAGGGGGGGGAAGGGAGGGGGGAGGGGAGGGGGAGGGAAG AGGGGGAGGGGGAGGGAAGAGAGGGAGGGGGAGGGGGAGGGGGAGGGAAG GGAGGGAGGGGAGGGGGAGGGAGGGGAGGGAGGGGAGGGGGAGGGAGGGG AGGGGAGTGGAGGGGGAGGGGGAGGGAGGAGGGATGGGAGTGGAGGGGGA GGGGGAGGGAGGGGAGGGGAGGGGGAGGGGGAGGGAAGGGAGGGAGGGGG GAGGGGGAGGGAGGGGAGGGGGAGGGAGGGTGG	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0013 a0001c0001t0010g0013	1	8	0.1250	632	c.250 others(647): Show c.250+581_250+582insCCACCCTCCCTCCCCCTCCCCTCCCTCCCC CTCCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCTCC CCCTCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCACTCC CCTCCCCTCCCTCCCCCTCCCCTCCCTCCCCTCCCTCCCCCTCCCCTCCC TCCCTTCCCTCCCCCTCCCCCTCCCCCTCCCTCTCTTCCCTCCCCCTCCC CCTCTTCCCTCCCCCTCCCCTCCCCCCTCCCTTCCCCCCCCTCCCCTCCC CCTCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCC CCCCTCCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCC CTCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCATCCTCCCCTCACCCCT TTCCCCCTTCCCCCTTTCCCCTCACCCCTTTCCCCTTCCCCCTTTCCCCC CACCCCTTTCCCCCTTCCCCCTGCCCCTTTTCCCCCCTTCCCCGCCCCTT TTCCCCCTCCCCCTGCCCCTCCCCTTCTCCCCTCCCCCTTTCCGCCTTCC TCCTTCCCCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCC CT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MTERF3_chr8_96234402_96266610	96250652	A A	AGAAGAAG others(625): Show AGAAGAAGAAGAAGAAGAAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAGGAAGAAGAAGAGGAAGAGGAAGAAGAGGAAGA GGAAGAAGAGGAAGAGGAAGAAGAGGAAGAGGAAGAAGAGGAAGAGGAAG AAGAGGAAGAGGAAGAAGAAGAGGAAGAGGAAGAAGAAGAGGAAGAGGAA GAGGAAGAAGAAGAAGAAGAGGAAGAAGAAGAGGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAGAAG AAGAAGAGGAAGAGGAAGAAGAGGAAGAGGAAGAAGAGGAAGAGGAAGAA GAGGAAGAGGAAGAAGAAGAGGAAGAGGAAGAAGAGGAAGAGGAAGAAGA GGAAGAGGAAGAAGAAGAGGAAGAGGAAGAAGAGGAAGAAGAGGAAGAAG AAGAGGAAGAGGAAGAAGAAGAAGAAGAGGAAGAAGAGGAAGAAGAAGAA GAAGAAGAAGAAGAGGAAGAAGAAGAAGAAGAG	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	291	0.0034	632	c.677 others(647): Show c.677+253_677+254insCTCTTCTTCTTCTTCTTCCTCTTCTTCTTC TTCTTCTTCTTCTTCCTCTTCTTCCTCTTCTTCTTCTTCTTCCTCTTCCT CTTCTTCTTCCTCTTCTTCCTCTTCTTCCTCTTCCTCTTCTTCTTCCTCT TCCTCTTCTTCCTCTTCCTCTTCTTCCTCTTCCTCTTCTTCTTCCTCTTC CTCTTCTTCCTCTTCCTCTTCTTCCTCTTCCTCTTCTTCCTCTTCCTCTT CTTCTTCTTCCTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCCTCTTCTTCTTCCTCTTCTTCTTCTTCTTC CTCTTCCTCTTCCTCTTCTTCTTCCTCTTCCTCTTCTTCTTCCTCTTCCT CTTCTTCCTCTTCCTCTTCTTCCTCTTCCTCTTCTTCCTCTTCCTCTTCT TCCTCTTCCTCTTCTTCCTCTTCCTCTTCTTCTTCCTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTTCTTCTTCTTCTTCT TC	MTERF3	ENSG00000156469.9	transcript	ENST00000287025.4	protein_coding	4/7			chr8	TogoVar
MTTP_chr4_99569824_99628997	99589035	A A	ACATATAT others(625): Show ACATATATATGTTCATATATATATTCATATATATATGTTCATATATATTC ATATATATGTTCATATATATATTCATATATATGTTCATATATATTCATAT ATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATAT ATATGTTCATATATATATTCATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATAT ATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCAT ATATATATGTTCATATATATATTCATATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATGTTCATATATATGTTCATATATATAT GTTCATATATATGTTCATATATATATGTTCATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATT	intron_variant intron_variant	MODIFIER	HG00408.hp2 NA18961.hp1 NA18970.hp1 others(7): Show HG00408.hp2 NA18961.hp1 NA18970.hp1 NA18978.hp2 NA18990.hp1 NA18991.hp1 NA19010.hp1 NA19057.hp2 NA19058.hp2 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0017 a0001c0001t0001g0220 others(3): Show a0001c0001t0001g0005 a0001c0001t0001g0017 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0240	10	174	0.0575	632	c.394 others(647): Show c.394-573_394-572insGTTCATATATATTCATATATATGTTCATAT ATATATTCATATATATGTTCATATATATTCATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATGTTCATATATAT ATTCATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATGTTCATATATATGTTCATATATATATGTTCATATATATGTTC ATATATATATGTTCATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATATGTTCATATATATATTCATATATATAT GTTCATATATATATTCATATATATATGTTCATATATATATTCATATATAT ATGTTCATATATATATTCATATATATGTTCATATATATATTCATATATAT AT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
MTTP_chr4_99569824_99628997	99589035	A A	ATATATAT others(625): Show ATATATATATGTTCATATATATTCATATATATGTTCATATATATATTCAT ATATATGTTCATATATATTCATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATATTCATATATATGTTCATATATATATTCATATAT ATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATAT ATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCAT ATATATATGTTCATATATATATTCATATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATGTTCATATATATGTTCATATATATAT GTTCATATATATGTTCATATATATATGTTCATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATT	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18949.hp2 NA18944.hp1 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0231 a0001c0001t0001g0099 a0001c0001t0001g0231	2	166	0.0120	632	c.394 others(647): Show c.394-608_394-607insTATATATATGTTCATATATATTCATATATA TGTTCATATATATATTCATATATATGTTCATATATATTCATATATATGTT CATATATATATTCATATATATATGTTCATATATATATTCATATATATGTT CATATATATATTCATATATATGTTCATATATATATTCATATATATATGTT CATATATATATTCATATATATATGTTCATATATATATTCATATATATATG TTCATATATATATTCATATATATATGTTCATATATATATTCATATATATA TGTTCATATATATATTCATATATATATGTTCATATATATATTCATATATA TATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATA TATATGTTCATATATATATTCATATATATATGTTCATATATATGTTCATA TATATGTTCATATATATATGTTCATATATATGTTCATATATATATGTTCA TATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCA TATATATATGTTCATATATATATTCATATATATATGTTCATATATATATT CATATATATATGTTCATATATATATTCATATATATATGTTCATATATATA TT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17			chr4	TogoVar
MTTP_chr4_99569824_99628997	99589035	A A	ATATATAT others(625): Show ATATATATATGTTCATATATATTCATATATATGTTCATATATATATTCAT ATATATGTTCATATATATTCATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATATTCATATATATGTTCATATATATATTCATATAT ATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATAT ATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCAT ATATATATGTTCATATATATATTCATATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATGT TCATATATATGTTCATATATATATGTTCATATATATGTTCATATATATAT GTTCATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATGCATATATATATGTTCATATATATATGCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATT	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	165	0.0061	632	c.394 others(647): Show c.394-608_394-607insTATATATATGTTCATATATATTCATATATA TGTTCATATATATATTCATATATATGTTCATATATATTCATATATATGTT CATATATATATTCATATATATATGTTCATATATATATTCATATATATGTT CATATATATATTCATATATATGTTCATATATATATTCATATATATATGTT CATATATATATTCATATATATATGTTCATATATATATTCATATATATATG TTCATATATATATTCATATATATATGTTCATATATATATTCATATATATA TGTTCATATATATATTCATATATATATGTTCATATATATATTCATATATA TATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATA TATATGTTCATATATATGTTCATATATATGTTCATATATATATGTTCATA TATATGTTCATATATATATGTTCATATATATGTTCATATATATATTCATA TATATATGTTCATATATATATGCATATATATATGTTCATATATATATGCA TATATATATGTTCATATATATATTCATATATATATGTTCATATATATATT CATATATATATGTTCATATATATATTCATATATATATGTTCATATATATA TT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17			chr4	TogoVar
MTTP_chr4_99569824_99628997	99589035	A A	ATATATAT others(625): Show ATATATATATGTTCATATATATTCATATATATGTTCATATATATATTCAT ATATATGTTCATATATATTCATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATATTCATATATATGTTCATATATATATTCATATAT ATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATAT ATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCAT ATATATATGTTCATATATATATTCATATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATGT TCATATATATGTTCATATATATATGTTCATATATATGTTCATATATATAT GTTCATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATT	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18973.hp1 NA19086.hp1 NA18951.hp1 NA18973.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0234 a0001c0001t0001g0245 a0001c0001t0001g0100 a0001c0001t0001g0234 a0001c0001t0001g0245	3	167	0.0180	632	c.394 others(647): Show c.394-608_394-607insTATATATATGTTCATATATATTCATATATA TGTTCATATATATATTCATATATATGTTCATATATATTCATATATATGTT CATATATATATTCATATATATATGTTCATATATATATTCATATATATGTT CATATATATATTCATATATATGTTCATATATATATTCATATATATATGTT CATATATATATTCATATATATATGTTCATATATATATTCATATATATATG TTCATATATATATTCATATATATATGTTCATATATATATTCATATATATA TGTTCATATATATATTCATATATATATGTTCATATATATATTCATATATA TATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATA TATATGTTCATATATATGTTCATATATATGTTCATATATATATGTTCATA TATATGTTCATATATATATGTTCATATATATGTTCATATATATATTCATA TATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCA TATATATATGTTCATATATATATTCATATATATATGTTCATATATATATT CATATATATATGTTCATATATATATTCATATATATATGTTCATATATATA TT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17			chr4	TogoVar
MUSK_chr9_110663791_110811558	110690451	A A	AATATATA others(625): Show AATATATATATTTAAATATAAGTATATATAAATATATATATTTCAAAATA AGTATATATAAATATATATATTTCAATATAAGTATATATAAATATATATA TTTCAATATAAGTATGTATATAAATATATATATTTCAATATAAGTATGTA TATAAATATACATATTTCAATATAAGTATGTATATAAATATACATATTTC AATATAAGTATATAAAAATATATATATTTCAATATAAGTATATATAAAAA TATATATATTTCAATATAAGTATATATAAAAATATATATATTTCAATATA AGTATGTATAAAAATATATATATTTCAATATAAGTATGTATAAAAATATA TATATTTCAATATAAGTATGTATAAATATATATATTTCAATATAAGTATG TATAAATATATATATTTCAATATAAGTATGTATAAAAATATATATATTTC AATATAAGTATGTATAAAAATATATATATTTAAATATAAGTATGTATAAA AATATATATATTTAAATATAAGTATGTATAAAAATATATATATTTAAATA TAAGTATGTATAAAAATATATATATTTAAATATAAGTATATATAAAAATA TATATATTTAAATATAAGTATATATATAAAAAT	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0073 a0005c0005t0002g0073	1	156	0.0064	632	c.358 others(649): Show c.358+3191_358+3192insATTTAAATATAAGTATATATAAATATAT ATATTTCAAAATAAGTATATATAAATATATATATTTCAATATAAGTATAT ATAAATATATATATTTCAATATAAGTATGTATATAAATATATATATTTCA ATATAAGTATGTATATAAATATACATATTTCAATATAAGTATGTATATAA ATATACATATTTCAATATAAGTATATAAAAATATATATATTTCAATATAA GTATATATAAAAATATATATATTTCAATATAAGTATATATAAAAATATAT ATATTTCAATATAAGTATGTATAAAAATATATATATTTCAATATAAGTAT GTATAAAAATATATATATTTCAATATAAGTATGTATAAATATATATATTT CAATATAAGTATGTATAAATATATATATTTCAATATAAGTATGTATAAAA ATATATATATTTCAATATAAGTATGTATAAAAATATATATATTTAAATAT AAGTATGTATAAAAATATATATATTTAAATATAAGTATGTATAAAAATAT ATATATTTAAATATAAGTATGTATAAAAATATATATATTTAAATATAAGT ATATATAAAAATATATATATTTAAATATAAGTATATATATAAAAATATAT ATAT	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MYLK4_chr6_2658637_2755922	2694524	G G	GTGGTGGT others(625): Show GTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGCGGCGATGGT GGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGCGGCGGTGGCAG TAGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGCGGTGGTGGTGGTG GTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGCGGCGATGGTGGT GGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGCGGCGGTGGCAGTAG TGGTGGTGGTGGTGATGGTGGTGGTGATGGTGGTGGTGATGGTGGTGGTG ATGGTGGTGGTGGTGGTGGTGGCGGCGATGGTGGTGGTGATGGTGGTGGT GGTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTGATGGTGGTGGTGGTGA TGGTGGTGATGGTGGTGGTGGTGATGGTGGCGGCGGTGGCAGTAGTGGTG GTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGT GGTAGTAGTGGTGGTGGTGGTGATGGTGGTGGTGGTAGTGGTAATGATGG TGGTGACCATGATGGTGGTGGTAGTGGTAGTGCTGCTGGTGGTGGTGGTG GTGATGGTGGTGGTGGTGATGGTGGTAGTGTTC	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0077 a0001c0001t0002g0077	1	4	0.2500	632	c.160 others(649): Show c.160-1666_160-1665insGAACACTACCACCATCACCACCACCACC ATCACCACCACCACCACCAGCAGCACTACCACTACCACCACCATCATGGT CACCACCATCATTACCACTACCACCACCACCATCACCACCACCACCACTA CTACCACCACCACCATCACCACCACCACCACCACCACCACCACCATCACC ACCACCACCACTACTGCCACCGCCGCCACCATCACCACCACCACCATCAC CACCATCACCACCACCACCATCACCACCACCACCACTACCACCACCACCA CCACCACCACCACCATCACCACCACCATCGCCGCCACCACCACCACCACC ACCATCACCACCACCATCACCACCACCATCACCACCACCATCACCACCAC CACCACTACTGCCACCGCCGCCACCACCACCATCACCACCACCACCATCA CCACCACCACCATCGCCGCCACCACCACCACCACCATCACCACCACCACC ACCACCACCACCACCACCGCCACCACCACCACCACCATCACCACCACCAC CACTACTGCCACCGCCGCCACCACCACCATCACCACCACCACCATCACCA CCACCACCATCGCCGCCACCACCACCACCACCATCACCACCACCACCACC ACCA	MYLK4	ENSG00000145949.12	transcript	ENST00000274643.9	protein_coding	2/12			chr6	TogoVar
NLRP8_chr19_55942832_55993629	55993533	C C	CCCTCCCC others(625): Show CCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCC CCTCCCCTCCCCTCCCCTCCCCCCCTCCCCCCCCTCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCCCCTCCCCCCCTCCCCTCCCCTCCCCTCCCCCTC CCCTCCCCCTCCCCTCCCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCTCCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCT CCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0010 a0010	a0010c0017 a0010c0017	a0010c0017t0016 a0010c0017t0016	a0010c0017t0016g0179 a0010c0017t0016g0179	1	311	0.0032	632	c.56 others(643): Show c.5620_*5621insCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCCCCCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCCTCCCCCCCTCCCCTCC CCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCC CTCCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCT	NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding		4905		chr19	TogoVar
NTM_chr11_131365615_132341822	131681129	C C	CTGTGTCT others(625): Show CTGTGTCTGTCTCCCTGTGTGTGTGAGCATGTGTGTTTCTGTCTGTATGT CTCCCTGTGTGTGTGAGCGTGTGTGTTTCTGTGTCTGTGTGTATGTCTCC CTGTGTGTGTGAGCGTGTGTGTTTCTGTGTCTGTGTGTATATCTCCCTGT GTATGTGAGCTTGTTTCTGTGTCTGTGTGTATGTCTCCCTGTGTGTGTGA GCGTGTGTGTTTCTGTGTCTGTATGTCTCCCTGTGTGTGTGAGCATGTGT GTTTCTGTGTCTGTATGTCTCCCTGTGTGTGAGCGTGTGTGTTTCTGTGT CTGTATGTCTCCCTGTGTGTGTGAGCGTGTGTGTTTCTGTGTCTGTGTGT ATGTCTCCCTGTGTGTGTGAGCGTGTGTGTTTCTGTGTCTGTATGTCTCC CTGTGTGTGAGCATGTGTGTTTCTGTGTCTGTATGTCTCCCTGTTTGTGT GAGCGTGTGTGTTTCTGTGTCTGTGTGTATGTCTCCCTGTGTGTGTGAGC GTGTGTGTTTCTGTGTCTGTATGTCTCCCTGTGTGTGTGAGCGTGTGTTT CTGTGTCTGTATGTCTCCCTGTGTGAGCGTGTGTGTTTCTGTGTCTGTGT GTATGTCTCCCTGTGTGTGTGAGCGTGTGTGTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	86	0.0116	632	c.83- others(651): Show c.83-230430_83-230429insCTGTCTCCCTGTGTGTGTGAGCATGT GTGTTTCTGTCTGTATGTCTCCCTGTGTGTGTGAGCGTGTGTGTTTCTGT GTCTGTGTGTATGTCTCCCTGTGTGTGTGAGCGTGTGTGTTTCTGTGTCT GTGTGTATATCTCCCTGTGTATGTGAGCTTGTTTCTGTGTCTGTGTGTAT GTCTCCCTGTGTGTGTGAGCGTGTGTGTTTCTGTGTCTGTATGTCTCCCT GTGTGTGTGAGCATGTGTGTTTCTGTGTCTGTATGTCTCCCTGTGTGTGA GCGTGTGTGTTTCTGTGTCTGTATGTCTCCCTGTGTGTGTGAGCGTGTGT GTTTCTGTGTCTGTGTGTATGTCTCCCTGTGTGTGTGAGCGTGTGTGTTT CTGTGTCTGTATGTCTCCCTGTGTGTGAGCATGTGTGTTTCTGTGTCTGT ATGTCTCCCTGTTTGTGTGAGCGTGTGTGTTTCTGTGTCTGTGTGTATGT CTCCCTGTGTGTGTGAGCGTGTGTGTTTCTGTGTCTGTATGTCTCCCTGT GTGTGTGAGCGTGTGTTTCTGTGTCTGTATGTCTCCCTGTGTGAGCGTGT GTGTTTCTGTGTCTGTGTGTATGTCTCCCTGTGTGTGTGAGCGTGTGTGT TTGTGT	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
OPHN1_chrX_68037344_68438495	68326722	A A	AGGGAGGT others(625): Show AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGGG GGGGGGGGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCT GCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCG CCCCGTCCAGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCGC CCAGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCC CGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTG AGGAGCCCCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGGG GTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGG TCAGCCCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGGGGGGGT CAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGT CAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01515.hp1 HG01106.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0027 a0001c0001t0003g0101 a0001c0001t0001g0027 a0001c0001t0003g0101	2	60	0.0333	632	c.155 others(651): Show c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG GGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGGG GGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGAGG GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC CCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCCC GGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCTG GACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCCC CCCCCCCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCC CTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCA CCTCCC	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24			chrX	TogoVar
OPHN1_chrX_68037344_68438495	68326722	A A	AGGGAGGT others(625): Show AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGGG GGGGGGGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTG CCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGC CCCGTCCAGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCC CAGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCC GTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGA GGAGCCCCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGGGG TCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGT CAGCCCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGGGGGGGGT CAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGT CAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	59	0.0169	632	c.155 others(651): Show c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG GGGGCTGACCCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGG GGGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGAG GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT CCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCC CGGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCT GGACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCC CCCCCCCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCC CTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCA CCTCCC	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24			chrX	TogoVar
OPHN1_chrX_68037344_68438495	68326722	A A	AGGGAGGT others(625): Show AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGGG GGGGGGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGC CCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCC CCGTCCAGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCCC AGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCC GTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGA GGAGCCCCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGGGG TCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGT CAGCCCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGGGGGGGTC AGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTC AGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	59	0.0169	632	c.155 others(651): Show c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG GGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCA GGGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGG GGGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGAG GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT CCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTC CCGGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCC TGGACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACC CCCCCCCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCC CTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCA CCTCCC	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24			chrX	TogoVar
OSBPL5_chr11_3082107_3170310	3097061	A A	AAGAGGGG others(625): Show AAGAGGGGGAAGATGGGAAGGGGAGGAGAGGAAGGAGGGGGAAGATGGGA GGAGGAGAAGAGGAAAGGGGGGAAGATGGGAGGAGGAGAGGAAAGGGGGG AAGACGGGAGGAGGAGTGGAAAGAGGGGGAAGATGGGAGAAGGAGAGGAA AGAGGGGGAAGACGGGAGGAGGAGGAGAGGAAAGAGGGGGAAGATGGGAG GAGGAGAGGAAAGGGGGGAAGACGGGAGGAGGAGAGGAAAGAGGGGGAAG ACGGGAGAAGGAGAGGAAAGAGGGGGAAGACGGGAGGAGGAGGAGAGGAA AGAGGGGGAAGATGGGAGGAGGAGAGGAAAGGGGGGAAGACGGGAGAAGG AGAGGAAAGAGGGGGAAGACGGGAGGAGGAGGAGAGGAAAGAGGGGGAAG ACGGGAGGAGGAGGAGAGGAAAGAGGGGGAAGATGGGAGGAGGAGAGGAA AGAGGGGGAAGATGGGAGGAGGAGAGAAAAGAGGGGGAAGATGGGAGGGG GAGGAGAGGAAAGAGGGGGAAGACGGGAAGAGGAGAGGAAAGAGGGGGAA GACGGGAGGAGGAGGAGAGGAAAGGGGGAAGACGGGAGGAGGAGGACAGG AAAGAGGGGGAAGATGGGAGGAGAAGAGGAAAG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02258.hp2 HG02451.hp2 others(3): Show HG01884.hp2 HG02258.hp2 HG02451.hp2 HG02886.hp2 HG03540.hp2 NA19030.hp1	a0001 a0009 a0012 a0001 a0009 a0012	a0001c0007 a0009c0024 a0012c0029 a0001c0007 a0009c0024 a0012c0029	a0001c0007t0005 a0009c0024t0005 a0012c0029t0005 a0001c0007t0005 a0009c0024t0005 a0012c0029t0005	a0001c0007t0005g0008 a0001c0007t0005g0042 a0001c0007t0005g0280 others(3): Show a0001c0007t0005g0008 a0001c0007t0005g0042 a0001c0007t0005g0280 a0001c0007t0005g0281 a0009c0024t0005g0164 a0012c0029t0005g0170	6	7	0.8571	632	c.162 others(651): Show c.1622-2728_1622-2727insCTTTCCTCTTCTCCTCCCATCTTCCC CCTCTTTCCTGTCCTCCTCCTCCCGTCTTCCCCCTTTCCTCTCCTCCTCC TCCCGTCTTCCCCCTCTTTCCTCTCCTCTTCCCGTCTTCCCCCTCTTTCC TCTCCTCCCCCTCCCATCTTCCCCCTCTTTTCTCTCCTCCTCCCATCTTC CCCCTCTTTCCTCTCCTCCTCCCATCTTCCCCCTCTTTCCTCTCCTCCTC CTCCCGTCTTCCCCCTCTTTCCTCTCCTCCTCCTCCCGTCTTCCCCCTCT TTCCTCTCCTTCTCCCGTCTTCCCCCCTTTCCTCTCCTCCTCCCATCTTC CCCCTCTTTCCTCTCCTCCTCCTCCCGTCTTCCCCCTCTTTCCTCTCCTT CTCCCGTCTTCCCCCTCTTTCCTCTCCTCCTCCCGTCTTCCCCCCTTTCC TCTCCTCCTCCCATCTTCCCCCTCTTTCCTCTCCTCCTCCTCCCGTCTTC CCCCTCTTTCCTCTCCTTCTCCCATCTTCCCCCTCTTTCCACTCCTCCTC CCGTCTTCCCCCCTTTCCTCTCCTCCTCCCATCTTCCCCCCTTTCCTCTT CTCCTCCTCCCATCTTCCCCCTCCTTCCTCTCCTCCCCTTCCCATCTTCC CCCTCT	OSBPL5	ENSG00000021762.20	transcript	ENST00000263650.12	protein_coding	14/21			chr11	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CTATAGAT others(625): Show CTATAGATAGACATATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAG ATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTAT CGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGATGTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTAT CTATCGATAGATAGATAGATGTATCTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0010	1	182	0.0055	632	c.-26 others(643): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATC TATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTA TCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTATC GATAGATACATCTATCTATCTATCGATACATCTATCTATCGATAGATACA TCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATC TATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCGA TAGATACATCTATCTATCGATAGATACATCTATCTATCGATAGATACATC TATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCTA TCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTATC GATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGA TAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATA GATACATCTATCTATCTATCGATAGATACATCTATATGTCTATCTATA	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2190		chr20	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CTATAGAT others(625): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCTATAGATAGACATATAGATGTATCTATCGATAGACAGATAGAT GTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGT ATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTAT CTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATCT ATCGATAGACAGATAGATGTATCTATCGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAG ATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTAT CGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATAGATGTATCTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	182	0.0055	632	c.-26 others(643): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCGATAGATACATC TATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTA TCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATC TATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCGA TAGATACATCTATCTATCGATAGATACATCTATCTATCGATAGATACATC TATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCTA TCGATAGATACATCTATCTATCGATAGATACATCTATCTGTCTATCGATA GATACATCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGATAGA TACATCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGATAGATA CATCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGATAGATACA TCTATCTGTCTATCGATAGATACATCTATATGTCTATCTATAGATAGATA CATCTATATGTCTATCTATAGATAGATACATCTATATGTCTATCTATA	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2190		chr20	TogoVar
PDCD6_chr5_266646_319974	318069	T T	TCCCTTGC others(625): Show TCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCACCCTGCACCTCC CCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCCACCTCCCCCCTCCAC CTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCCCCCTCACCTCCCCCC TCACCCACCACCTCCCGCCCTCACCCTCCACCTCCCCCCGCACCCTGCAC CTCCCACCCTTACCCTGCACCTCCCCCCATCTTTTACCTCCCCCCTCACC CTGCACCTCCCTCTCACCCTGCACCTCCTCCCTCCCTCTCCCCCTCATCC TGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCCACCTCC CCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCCCCCTCA CCTCCCCCCTCACCCACCACCTCCCGCCCTCACCCTCCACCTCCCCCCGC ACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCCATCTTTTACCTCC CCCCTCACCCTGCACCTCCCTCTCACCCTGCACCTCCTCCCTCCCTCTCC CCCTCATCCTGCACCTCCCCCCTCCACACCCCCTCACCTCCCCCCACCTT CCACCTCCCCCCCTCCACCTCCCCCCTCACTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	118	0.0085	632	c.35 others(643): Show c.3554_*3555insCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCC TCACCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCC ACCTCCCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCC CCCTCACCTCCCCCCTCACCCACCACCTCCCGCCCTCACCCTCCACCTCC CCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCCATCTTTT ACCTCCCCCCTCACCCTGCACCTCCCTCTCACCCTGCACCTCCTCCCTCC CTCTCCCCCTCATCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCC CCACTTTCCACCTCCCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCT CCACCTCCCCCCTCACCTCCCCCCTCACCCACCACCTCCCGCCCTCACCC TCCACCTCCCCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCC CCATCTTTTACCTCCCCCCTCACCCTGCACCTCCCTCTCACCCTGCACCT CCTCCCTCCCTCTCCCCCTCATCCTGCACCTCCCCCCTCCACACCCCCTC ACCTCCCCCCACCTTCCACCTCCCCCCCTCCACCTCCCCCCTCACTTC	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3096		chr5	TogoVar
PDCD6_chr5_266646_319974	318069	T T	TCCCTTGC others(625): Show TCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCACCCTGCACCTCC CCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCCACCTCCCCCCTCCAC CTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCCCCCTCACCTCCCCCC TCACCCACCACCTCCCGCCCTCACCCTCCACCTCCCCCCGCACCCTGCAC CTCCCACCCTTACCCTGCACCTCCCCCCATCTTTTACCTCCCCCCTCACC CTGCACCTCCCTCTCACCCTGCACCTCCTCCCTCCCTCTCCCCCTCATCC TGCACCTCCCCCTCTCCACTCCCCCTCACCTCCCCCCCACTTTCCACCTC CCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCCCCCTC ACCTCCCCCCTCACCCACCACCTCCCGCCCTCACCCTCCACCTCCCCCCG CACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCCATCTTTTACCTC CCCCCTCACCCTGCACCTCCCTCTCACCCTGCACCTCCTCCCTCCCTCTC CCCCTCATCCTGCACCTCCCCCCTCCACACCCCCTCACCTCCCCCCACCT TCCACCTCCCCCCTCCACCTCCCCCCTCACTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	118	0.0085	632	c.35 others(643): Show c.3554_*3555insCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCC TCACCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCC ACCTCCCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCC CCCTCACCTCCCCCCTCACCCACCACCTCCCGCCCTCACCCTCCACCTCC CCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCCATCTTTT ACCTCCCCCCTCACCCTGCACCTCCCTCTCACCCTGCACCTCCTCCCTCC CTCTCCCCCTCATCCTGCACCTCCCCCTCTCCACTCCCCCTCACCTCCCC CCCACTTTCCACCTCCCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCC TCCACCTCCCCCCTCACCTCCCCCCTCACCCACCACCTCCCGCCCTCACC CTCCACCTCCCCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCC CCCATCTTTTACCTCCCCCCTCACCCTGCACCTCCCTCTCACCCTGCACC TCCTCCCTCCCTCTCCCCCTCATCCTGCACCTCCCCCCTCCACACCCCCT CACCTCCCCCCACCTTCCACCTCCCCCCTCCACCTCCCCCCTCACTTC	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3096		chr5	TogoVar
PKP3_chr11_389209_409908	397978	G G	GTACCCCC others(625): Show GTACCCCCGCACACACCTGCATCACCTCCATACCCCCACACACACCTGCG TCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACA CACCTCCGTCACCTCCGTACCCCCGCACACACCTGTGTCACCTCCCTACC CCCACATATACCTCATCACCTCCGTACACCCGCACATACCTGCGTCACCT CCCTACCCCCACATATACCTCATCACCTCCGTACCCCCGCACACACCTGC GTCACCTCCCTACCCCCACATATACCTCATCACCTCCGTACACCCGCACA CACCTGCGCCACCTCCCTACCCCCGCACACACCTGCATCACCTCCATACC CCCACACACACCTGCGTCACCTCCGTACCCCCGCACACACCTGCGTCACC TCCGTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACACACCT GTGTCACCTCCCTACCCCCACATATACCTCATCACCTCCGTACACCCGCA CATACCTGCGTCACCTCCCTACCCCCACATATACCTCATCACCTCCGTAC CCCCGCACACACCTGCGTCACCTCCCTACCCCCACATATACCTCATCACC TCCGTACACCCGCACACACCTGCGCCACCTCCC	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0110 a0001c0002t0001g0110	1	213	0.0047	632	c.106 others(649): Show c.1068+623_1068+624insCCACCTCCCTACCCCCGCACACACCTGC ATCACCTCCATACCCCCACACACACCTGCGTCACCTCCGTACCCCCGCAC ACACCTGCGTCACCTCCGTACCCCCGCACACACCTCCGTCACCTCCGTAC CCCCGCACACACCTGTGTCACCTCCCTACCCCCACATATACCTCATCACC TCCGTACACCCGCACATACCTGCGTCACCTCCCTACCCCCACATATACCT CATCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCACA TATACCTCATCACCTCCGTACACCCGCACACACCTGCGCCACCTCCCTAC CCCCGCACACACCTGCATCACCTCCATACCCCCACACACACCTGCGTCAC CTCCGTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACACC TCCGTCACCTCCGTACCCCCGCACACACCTGTGTCACCTCCCTACCCCCA CATATACCTCATCACCTCCGTACACCCGCACATACCTGCGTCACCTCCCT ACCCCCACATATACCTCATCACCTCCGTACCCCCGCACACACCTGCGTCA CCTCCCTACCCCCACATATACCTCATCACCTCCGTACACCCGCACACACC TGCG	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PRR22_chr19_5777960_5789746	5787204	G G	GGTGGGAG others(625): Show GGTGGGAGGTCGTGGGAGATGGTGGGAGGTCGTGGGAGATGGTGGGAGGT AGTGGGAGACAGTGGCAGACAGTGGGAGGTGGTGGGAGATGGTGGCAGAC GGTGGGAGGTGGTGGGAGACAGTGGGAAGTGGTGGGAGGTGGTGGGAGAC GGTGGGAGGTGGTAGGAGACGGTGGGAGGTGGTGGGAGACACTCGGAGAC GGTGGGATGTGGTGGGAGGTAGTGGGAGACATTGGCAGACGGTGGGAGGT GGTGGGAGATGGTGAGAGGTGGTGGGAGACGGCGGGAGGTGGTGGGAGAT GGCGGGAGGTGGTGGGAGACGGTGGGAGGTGGTGGGAGGTGGTGGGAGAC GGAGAGGTGGGATGTGGTGGGAGGTAGTGGGAGACACTGGCAGATGGTGG GAGGTCGTGGGAGATGGTGGGAGGTGGTGGGAGACGGTGGGAGATGGTGG GAGGTGGTGGGGGAGACGGCGGGAGGTGGTGGGAGATGGCGGGAGGTGGT GGGAAGTGGTGGGAGACGGAGATGGTGGGAGACGGTGGGAGACGGCGGGA GGTGGAGGGAGGCGGCGGGAGATGGCGGGAGGTGGCAGGAGACGTGGGAG GTGGCAGGAGACGGTGGGAGGTGGTGGGAGACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	2	0.5000	632	c.-25 others(643): Show c.-2545_-2544insTGTCTCCCACCACCTCCCACCGTCTCCTGCCACC TCCCACGTCTCCTGCCACCTCCCGCCATCTCCCGCCGCCTCCCTCCACCT CCCGCCGTCTCCCACCGTCTCCCACCATCTCCGTCTCCCACCACTTCCCA CCACCTCCCGCCATCTCCCACCACCTCCCGCCGTCTCCCCCACCACCTCC CACCATCTCCCACCGTCTCCCACCACCTCCCACCATCTCCCACGACCTCC CACCATCTGCCAGTGTCTCCCACTACCTCCCACCACATCCCACCTCTCCG TCTCCCACCACCTCCCACCACCTCCCACCGTCTCCCACCACCTCCCGCCA TCTCCCACCACCTCCCGCCGTCTCCCACCACCTCTCACCATCTCCCACCA CCTCCCACCGTCTGCCAATGTCTCCCACTACCTCCCACCACATCCCACCG TCTCCGAGTGTCTCCCACCACCTCCCACCGTCTCCTACCACCTCCCACCG TCTCCCACCACCTCCCACCACTTCCCACTGTCTCCCACCACCTCCCACCG TCTGCCACCATCTCCCACCACCTCCCACTGTCTGCCACTGTCTCCCACTA CCTCCCACCATCTCCCACGACCTCCCACCATCTCCCACGACCTCCCAC	PRR22	ENSG00000212123.4	transcript	ENST00000419421.3	protein_coding		2459		chr19	TogoVar
RNF213_chr17_80255852_80403794	80355506	C C	CGGGAATG others(625): Show CGGGAATGGGGGCTTACAGGGGAAGAAGCGGGGTGAACGGGAATGGGGGC TTACAGGGGAAGAAGCGGGGTGAACGGGAATGGGGGCTTATGGAGGAAGA AGCGGGGTGAATGGGAATGGGGGCTTACAGGGGAAGAAGCGGGGTGAATG GGAATGGGGGCTTACAGGGGAAGAAGCGGGGTGAATGGGAATGGGGGCTT ACAGGGGGAAGAAGCGGGGTGGACGGGAATGGGGGCTTATGGAGGAAGAA GCGGGGTGAATGGGAATGGGGGCTTACAGGGGGAAGAAGCGGGGTGAACG GGAATGGGGGCTTATGGAGGAAGAAGCGGGGTGAATGGGAATGGGGGCTT ACAGGGGAAGAAGCGGGGTGAATGGGAATGGGGGCTTACAGGGGGAAGAA GCGGGGTGAACGGGAATGGGGGCTTATGGAGGAAGAAGCGGGGTGAATGG GAATGGGGGCTTACAGGGGAAGAAGCGGGGTGAATGGGAATGGGGGCTTA CAGGGGAAGAAGCGGGGTGAATGGGAATGGGGGCTTACAGGGGAAGAAGC GGGGTGAATGGGAATGGGGGCTTACAGGGGAAGAAGCGGGGTGAATGGGA ATGGGGGCTTACAGGGGAAGAAGCGGGGTGAAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0017 a0008c0013t0017	a0008c0013t0017g0250 a0008c0013t0017g0250	1	262	0.0038	632	c.108 others(651): Show c.10862+951_10862+952insAAGAAGCGGGGTGAACGGGAATGGGG GCTTACAGGGGAAGAAGCGGGGTGAACGGGAATGGGGGCTTATGGAGGAA GAAGCGGGGTGAATGGGAATGGGGGCTTACAGGGGAAGAAGCGGGGTGAA TGGGAATGGGGGCTTACAGGGGAAGAAGCGGGGTGAATGGGAATGGGGGC TTACAGGGGGAAGAAGCGGGGTGGACGGGAATGGGGGCTTATGGAGGAAG AAGCGGGGTGAATGGGAATGGGGGCTTACAGGGGGAAGAAGCGGGGTGAA CGGGAATGGGGGCTTATGGAGGAAGAAGCGGGGTGAATGGGAATGGGGGC TTACAGGGGAAGAAGCGGGGTGAATGGGAATGGGGGCTTACAGGGGGAAG AAGCGGGGTGAACGGGAATGGGGGCTTATGGAGGAAGAAGCGGGGTGAAT GGGAATGGGGGCTTACAGGGGAAGAAGCGGGGTGAATGGGAATGGGGGCT TACAGGGGAAGAAGCGGGGTGAATGGGAATGGGGGCTTACAGGGGAAGAA GCGGGGTGAATGGGAATGGGGGCTTACAGGGGAAGAAGCGGGGTGAATGG GAATGGGGGCTTACAGGGGAAGAAGCGGGGTGAATGGGAATGGGGGCTTA CAGGGG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	36/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RUNX1_chr21_34782801_35054302	34931569	A A	ATGTATAC others(625): Show ATGTATACATATAGACATGTATGTATAATATATATACATATAGACATGTA TATTATATGTACATATATGTATATATTATACATACATATATATGTATATA TAATATATACATGTATATATTATACATGTATATATTAATATATAATATAT AGTATATATATACATGTATATATTATATATAAAGTATATATTATATATAC GTGTATACAATATATATACGTGTATATATATTATATACACGTATATATAA TATATTGTATACAGGTATATATACATGTATATAATATATATGTATATATA ATATATTGTATACATGTATATATATACATGATATATACACATATATATCG TGTATATATACACATATATGTATATATATACATGATATATACATACATAT ATATCATGTGTATATATATACATAATATACACGTATATATACATACATAT ATACATGTATATATACACATATATACATACATATATATACATGTATATAT ACACACATATATATGTGTATGTATATGTGTGTGTGTGTGTGTGTGTGTGT GTATATATATATATATATATATATATATATATATATATATATATATATAT ATAATTTTACAACTAACATTAGCCATTGAATAG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	121	0.0083	632	c.59- others(649): Show c.59-38607_59-38606insCTATTCAATGGCTAATGTTAGTTGTAAA ATTATATATATATATATATATATATATATATATATATATATATATATATA TATACACACACACACACACACACACACACATATACATACACATATATATG TGTGTATATATACATGTATATATATGTATGTATATATGTGTATATATACA TGTATATATGTATGTATATATACGTGTATATTATGTATATATATACACAT GATATATATGTATGTATATATCATGTATATATATACATATATGTGTATAT ATACACGATATATATGTGTATATATCATGTATATATATACATGTATACAA TATATTATATATACATATATATTATATACATGTATATATACCTGTATACA ATATATTATATATACGTGTATATAATATATATACACGTATATATATTGTA TACACGTATATATAATATATACTTTATATATAATATATACATGTATATAT ATACTATATATTATATATTAATATATACATGTATAATATATACATGTATA TATTATATATACATATATATGTATGTATAATATATACATATATGTACATA TAATATACATGTCTATATGTATATATATTATACATACATGTCTATATGTA TACA	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
SAMM50_chr22_43950442_44001529	43980136	A A	ACATCCAT others(625): Show ACATCCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCCATCC ATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCCAT CCACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCCATCC ACCCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCAC CCATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCCATCC ACCCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCATCCAT CCATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCC ATCCACTCATCCATCCATCCATCCGTCCATCCACCCACCCACACACACAC CTATCCATCCATCCACCCATCAACCCATCCACCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCATTCATTCATCCATCCATCCATCCAT CTACCCATCCACCCACCCACCCACACACCTATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCATCCAT CCATCCATCCACCCACCCACCCACCCACCCATC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01243.hp2 HG01257.hp2 others(5): Show HG00408.hp2 HG01243.hp2 HG01257.hp2 NA18906.hp2 NA18970.hp2 NA19012.hp1 NA19077.hp1 NA20805.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0041 a0002c0001t0001g0042 a0002c0001t0001g0201 others(5): Show a0002c0001t0001g0041 a0002c0001t0001g0042 a0002c0001t0001g0201 a0002c0001t0001g0218 a0002c0001t0001g0221 a0002c0001t0001g0229 a0002c0001t0001g0246 a0002c0001t0001g0250	8	15	0.5333	632	c.937 others(649): Show c.937-1228_937-1227insCCATCCATCCACTCATCCATCCATCCAT CCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCCATCCACCC ACCCACACACACACCTATCCATCCATCCACCCATCCACCCATCCACCCAT CCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCACCCATCC ACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCCATCCACCCAT CCACCCATCCACCCACCCACCTACCCACCCACACACCCATCCATCCATCC ATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCAC TCATCCATCCATCCATCCGTCCATCCACCCACCCACACACACACCTATCC ATCCATCCACCCATCAACCCATCCACCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATTCATTCATCCATCCATCCATCCATCTACCC ATCCACCCACCCACCCACACACCTATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCACCCACCCACCCACCCACCCATCCATCCATCC ATCCACCCACCCACCCACCCACCCATCCATCCATCCATCCATCCATCCAT CCAT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SAMM50_chr22_43950442_44001529	43980136	A A	ACATCCAT others(625): Show ACATCCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCCATCC ATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCCAT CCACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCCATCC ACCCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCAC CCATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCCATCC ACCCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCATCCAT CCATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCC ATCCACTCATCCATCCATCCATCCGTCCATCCACCCACCCACACACACAC CTATCCATCCATCCACCCATCAACCCATCCACCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATTCATTAATCCATCCATCCATCCATCTAC CCATCCACCCACCCACCCACACACCTATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCATCCAT CCATCCATCCACCCACCCACCCACCCACCCATC	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0193 a0002c0001t0001g0193	1	8	0.1250	632	c.937 others(649): Show c.937-1228_937-1227insCCATCCATCCACTCATCCATCCATCCAT CCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCCATCCACCC ACCCACACACACACCTATCCATCCATCCACCCATCCACCCATCCACCCAT CCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCACCCATCC ACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCCATCCACCCAT CCACCCATCCACCCACCCACCTACCCACCCACACACCCATCCATCCATCC ATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCAC TCATCCATCCATCCATCCGTCCATCCACCCACCCACACACACACCTATCC ATCCATCCACCCATCAACCCATCCACCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATTCATTAATCCATCCATCCATCCATCTACCCATCC ACCCACCCACCCACACACCTATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCACCCACCCACCCACCCACCCATCCATCCATCC ATCCACCCACCCACCCACCCACCCATCCATCCATCCATCCATCCATCCAT CCAT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SAMM50_chr22_43950442_44001529	43980136	A A	ACATCCAT others(625): Show ACATCCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCCATCC ATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCCAT CCACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCCATCC ACCCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCAC CCATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCCATCC ACCCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCATCCAT CCATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCC ATCCACTCATCCATCCATCCATCCGTCCATCCACCCACCCACACACACAC CTATCCATCCATCCACCCATCAACCCATCCACCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATTCATTCATCCATCCATCCATCCATCTAC CCATCCACCCACCCACCCACACACCTATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCATCCATCCAT CCATCCACCCACCCACCCACCCACCCATCCATC	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0244 a0002c0001t0001g0244	1	8	0.1250	632	c.937 others(649): Show c.937-1228_937-1227insCCATCCATCCACTCATCCATCCATCCAT CCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCCATCCACCC ACCCACACACACACCTATCCATCCATCCACCCATCCACCCATCCACCCAT CCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCACCCATCC ACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCCATCCACCCAT CCACCCATCCACCCACCCACCTACCCACCCACACACCCATCCATCCATCC ATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCAC TCATCCATCCATCCATCCGTCCATCCACCCACCCACACACACACCTATCC ATCCATCCACCCATCAACCCATCCACCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATTCATTCATCCATCCATCCATCCATCTACCCATCC ACCCACCCACCCACACACCTATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCACCCACCCACCCACCCACCCATCCATCCATCCATCC ACCCACCCACCCACCCACCCATCCATCCATCCATCCATCCATCCATCCAT CCAT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SAMM50_chr22_43950442_44001529	43980136	A A	ACATCCAT others(625): Show ACATCCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCCATCC ATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCCAT CCACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCCATCC ACCCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCAC CCATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCCATCC ACCCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCATCCAT CCATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCC ATCCACTCATCCATCCATCCATCCGTCCATCCACCCACCCACACACACAC CTATCCATCCATCCACCCATCAACCCATCCACCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATTCATTCATCCATCCATCCATCCATCTAC CCATCCACCCACCCACCCACACACCTATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCATCCAT CCATCCATCCACCCACCCACCCACCCACCCATC	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18979.hp1 NA18971.hp2 NA18979.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0195 a0002c0001t0001g0271 a0002c0001t0001g0195 a0002c0001t0001g0271	2	9	0.2222	632	c.937 others(649): Show c.937-1228_937-1227insCCATCCATCCACTCATCCATCCATCCAT CCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCCATCCACCC ACCCACACACACACCTATCCATCCATCCACCCATCCACCCATCCACCCAT CCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCACCCATCC ACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCCATCCACCCAT CCACCCATCCACCCACCCACCTACCCACCCACACACCCATCCATCCATCC ATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCAC TCATCCATCCATCCATCCGTCCATCCACCCACCCACACACACACCTATCC ATCCATCCACCCATCAACCCATCCACCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATTCATTCATCCATCCATCCATCCATCTACCCATCC ACCCACCCACCCACACACCTATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCACCCACCCACCCACCCACCCATCCATCCATCC ATCCACCCACCCACCCACCCACCCATCCATCCATCCATCCATCCATCCAT CCAT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SAMM50_chr22_43950442_44001529	43980136	A A	ACATCCAT others(625): Show ACATCCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCCATCC ATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCCAT CCACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCCATCC ACCCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCAC CCATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCCATCC ACCCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCATCCAT CCATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCC ATCCATCCACTCATCCATCCATCCATCCGTCCATCCACCCACCCACACAC ACACCTATCCATCCATCCACCCATCAACCCATCCACCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCATTCATTCATCCATCCATCCATCCAT CTACCCATCCACCCACCCACCCACACACCTATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCATCCAT CCATCCATCCACCCACCCACCCACCCACCCATC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02056.hp2 HG03017.hp2 others(3): Show HG01255.hp1 HG02056.hp2 HG03017.hp2 HG03710.hp1 NA19080.hp1 NA19088.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0198 a0002c0001t0001g0235 a0002c0001t0001g0238 others(3): Show a0002c0001t0001g0198 a0002c0001t0001g0235 a0002c0001t0001g0238 a0002c0001t0001g0242 a0002c0001t0001g0252 a0002c0001t0001g0253	6	13	0.4615	632	c.937 others(649): Show c.937-1228_937-1227insCCATCCATCCACTCATCCATCCATCCAT CCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCCATCCACCC ACCCACACACACACCTATCCATCCATCCACCCATCCACCCATCCACCCAT CCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCACCCATCC ACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCCATCCACCCAT CCACCCATCCACCCACCCACCTACCCACCCACACACCCATCCATCCATCC ATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCAT CCACTCATCCATCCATCCATCCGTCCATCCACCCACCCACACACACACCT ATCCATCCATCCACCCATCAACCCATCCACCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATTCATTCATCCATCCATCCATCCATCTACCC ATCCACCCACCCACCCACACACCTATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCACCCACCCACCCACCCACCCATCCATCCATCC ATCCACCCACCCACCCACCCACCCATCCATCCATCCATCCATCCATCCAT CCAT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SAMM50_chr22_43950442_44001529	43980136	A A	ACATCCAT others(625): Show ACATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCC ATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGT CCATCCACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCC ATCCACCCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCAT CCACCCATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCC ATCCACCCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCAT CCATCCATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCC ATCCATCCACTCATCCATCCATCCATCCGTCCATCCACCCACCCACACAC ACACCTATCCATCCATCCACCCATCAACCCATCCACCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCATTCATTCATCCATCCATCCATCCAT CTACCCATCCACCCACCCACCCACACACCTATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCACCCAT CCATCCATCCACCCACCCACCCACCCACCCACC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02717.hp2 HG02818.hp2 others(1): Show HG02258.hp2 HG02717.hp2 HG02818.hp2 HG02922.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0027 a0001c0002t0002g0043 a0001c0002t0002g0267 a0001c0002t0002g0027 a0001c0002t0002g0043 a0001c0002t0002g0267	4	11	0.3636	632	c.937 others(649): Show c.937-1228_937-1227insCCATCCATCCATCCACTCATCCATCCAT CCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCCATCC ACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCCATCCAC CCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCACCC ATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCCATCCAC CCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCATCCATCC ATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCAT CCACTCATCCATCCATCCATCCGTCCATCCACCCACCCACACACACACCT ATCCATCCATCCACCCATCAACCCATCCACCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATTCATTCATCCATCCATCCATCCATCTACCC ATCCACCCACCCACCCACACACCTATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCACCCACCCACCCACCCACCCACCCATCCATCC ATCCACCCACCCACCCACCCACCCACCCATCCATCCATCCATCCATCCAT CCAT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SAMM50_chr22_43950442_44001529	43980136	A A	ACATCCAT others(625): Show ACATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCC ATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGT CCATCCACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCC ATCCACCCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCAT CCACCCATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCC ATCCACCCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCAT CCATCCATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCC ATCCATCCACTCATCCATCCATCCATCCGTCCATCCACCCACCCACACAC ACACCTATCCATCCATCCACCCATCAACCCATCCACCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCATTCATTCATCCATCCATCCATCCAT CTACCCATCCACCCACCCACCCACACACCTATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCATCCAT CCATCCATCCACCCACCCACCCACCCACCCATC	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0191 a0002c0001t0001g0191	1	8	0.1250	632	c.937 others(649): Show c.937-1228_937-1227insCCATCCATCCATCCACTCATCCATCCAT CCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCCATCC ACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCCATCCAC CCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCACCC ATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCCATCCAC CCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCATCCATCC ATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCAT CCACTCATCCATCCATCCATCCGTCCATCCACCCACCCACACACACACCT ATCCATCCATCCACCCATCAACCCATCCACCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATTCATTCATCCATCCATCCATCCATCTACCC ATCCACCCACCCACCCACACACCTATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCACCCACCCACCCACCCACCCATCCATCCATCC ATCCACCCACCCACCCACCCACCCATCCATCCATCCATCCATCCATCCAT CCAT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SAMM50_chr22_43950442_44001529	43980136	A A	ACATCCAT others(625): Show ACATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCC ATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGT CCATCCACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCC ATCCACCCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCAT CCACCCATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCC ATCCACCCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCAT CCATCCATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCC ATCCATCCACTCATCCATCCATCCATCCGTCCATCCACCCACCCACACAC ACACCTATCCATCCATCCACCCATCAACCCATCCACCCATCCATCCATCC ATCCATCCATCCATCCATCCATTCATTCATCCATCCATCCATCCATCTAC CCATCCACCCACCCACCCACACACCTATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCATCCAT CCATCCACCCACCCACCCACCCACCCACCCATC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02818.hp1 NA19043.hp2 others(1): Show HG02055.hp1 HG02818.hp1 NA19043.hp2 NA19240.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0100 a0001c0006t0001g0102 a0001c0006t0001g0107 others(1): Show a0001c0006t0001g0100 a0001c0006t0001g0102 a0001c0006t0001g0107 a0001c0006t0001g0108	4	11	0.3636	632	c.937 others(649): Show c.937-1228_937-1227insCCATCCATCCATCCACTCATCCATCCAT CCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCCATCC ACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCCATCCAC CCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCACCC ATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCCATCCAC CCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCATCCATCC ATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCAT CCACTCATCCATCCATCCATCCGTCCATCCACCCACCCACACACACACCT ATCCATCCATCCACCCATCAACCCATCCACCCATCCATCCATCCATCCAT CCATCCATCCATCCATTCATTCATCCATCCATCCATCCATCTACCCATCC ACCCACCCACCCACACACCTATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCACCCACCCACCCACCCACCCATCCATCCATCC ACCCACCCACCCACCCACCCACCCATCCATCCATCCATCCATCCATCCAT CCAT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SAMM50_chr22_43950442_44001529	43980136	A A	ACATCCAT others(625): Show ACATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCC ATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGT CCATCCACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCC ATCCACCCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCAT CCACCCATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCC ATCCACCCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCAT CCATCCATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCC ATCCATCCACTCATCCATCCATCCATCCGTCCATCCACCCACCCACACAC ACACCTATCCATCCATCCACCCATCAACCCATCCACCCATCCATCCATCC ATCCATCCATCCATCCATTCATTCATCCATCCATCCATCCATCTACCCAT CCACCCACCCACCCACACACCTATCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCACCCACCCACCCACCCACCCATCCATCCATCCAT CCACCCACCCACCCACCCACCCATCCATCCATC	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0183 a0001c0002t0001g0183	1	8	0.1250	632	c.937 others(649): Show c.937-1228_937-1227insCCATCCATCCATCCACTCATCCATCCAT CCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCCATCC ACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCCATCCAC CCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCACCC ATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCCATCCAC CCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCATCCATCC ATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCAT CCACTCATCCATCCATCCATCCGTCCATCCACCCACCCACACACACACCT ATCCATCCATCCACCCATCAACCCATCCACCCATCCATCCATCCATCCAT CCATCCATCCATTCATTCATCCATCCATCCATCCATCTACCCATCCACCC ACCCACCCACACACCTATCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCACCCACCCACCCACCCACCCATCCATCCATCCATCCACCC ACCCACCCACCCACCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCAT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SAMM50_chr22_43950442_44001529	43980136	A A	ACATCCAT others(625): Show ACATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCC ATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGT CCATCCACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCC ATCCACCCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCAT CCACCCATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCC ATCCACCCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCAT CCATCCATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCC ATCCATCCACTCATCCATCCATCCATCTGTCCATCCACCCACCCACACAC ACACCTATCCATCCATCCACCCATCAACCCATCCACCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCATTCATCCATCCATCCATCCATCCAT CTACCCATCCACCCACCCACCCACACACCTATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCATCCAT CCATCCATCCACCCACCCACCCACCCACCCATC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0175 a0001c0008t0001g0175	1	8	0.1250	632	c.937 others(649): Show c.937-1228_937-1227insCCATCCATCCATCCACTCATCCATCCAT CCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCCATCC ACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCCATCCAC CCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCACCC ATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCCATCCAC CCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCATCCATCC ATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCAT CCACTCATCCATCCATCCATCTGTCCATCCACCCACCCACACACACACCT ATCCATCCATCCACCCATCAACCCATCCACCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATTCATCCATCCATCCATCCATCCATCTACCC ATCCACCCACCCACCCACACACCTATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCACCCACCCACCCACCCACCCATCCATCCATCC ATCCACCCACCCACCCACCCACCCATCCATCCATCCATCCATCCATCCAT CCAT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SAMM50_chr22_43950442_44001529	43980136	A A	ACATCCAT others(625): Show ACATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCACTC ATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCAT CCGTCCATCCACCCACCCACACACACACCTATCCATCCATCCACCCATCC ACCCATCCACCCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCAT CCATCCACCCATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCC ACCCATCCACCCATCCACCCATCCACCCACCCACCTACCCACCCACACAC CCATCCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCCATCC ATCCATCCATCCATCCACTCATCCATCCATCCATCCGTCCATCCACCCAC CCACACACACACCTATCCATCCATCCACCCATCAACCCATCCACCCATCC ATCCATCCATCCATCCATTCATTCATCCATCCATCCATCCATCTACCCAT CCACCCACCCACCCACACACCTATCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCATCCAT CCATCCATCCACCCACCCACCCACCCACCCATC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0314 a0001c0013t0001g0314	1	8	0.1250	632	c.937 others(649): Show c.937-1228_937-1227insCCATCCATCCATCCATCCACTCATCCAT CCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCC ATCCACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCCAT CCACCCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCC ACCCATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCCAT CCACCCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCATCC ATCCATCCATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCAT CCATCCATCCACTCATCCATCCATCCATCCGTCCATCCACCCACCCACAC ACACACCTATCCATCCATCCACCCATCAACCCATCCACCCATCCATCCAT CCATCCATCCATTCATTCATCCATCCATCCATCCATCTACCCATCCACCC ACCCACCCACACACCTATCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCACCCACCCACCCACCCACCCATCCATCCATCC ATCCACCCACCCACCCACCCACCCATCCATCCATCCATCCATCCATCCAT CCAT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SAMM50_chr22_43950442_44001529	43980136	A A	ACATCCAT others(625): Show ACATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCACTC ATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCAT CCGTCCATCCACCCACCCACACACACACCTATCCATCCATCCACCCATCC ACCCATCCACCCATCCACCCACCCATCCATCCATCCGTCCGTCCATCCAT CCACCCATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCC ATCCACCCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCAT CCATCCATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCC ATCCATCCACTCATCCATCCATCCATCCGTCCATCCACCCACCCACACAC ACACCTATCCATCCATCCACCCATCAACCCATCCACCCATCCATCCATCC ATCCATCCATCCATCCATCCATTCATTCATCCATCCATCCATCCATCTAC CCATCCACCCACCCACCCACACACCTATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCACCCATCCAT CCATCCACCCACCCACCCACCCACCCACCCATC	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0321 a0001c0007t0001g0321	1	8	0.1250	632	c.937 others(649): Show c.937-1228_937-1227insCCATCCATCCATCCATCCACTCATCCAT CCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCC ATCCACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCCAT CCACCCATCCACCCACCCATCCATCCATCCGTCCGTCCATCCATCCACCC ATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCCATCCAC CCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCATCCATCC ATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCAT CCACTCATCCATCCATCCATCCGTCCATCCACCCACCCACACACACACCT ATCCATCCATCCACCCATCAACCCATCCACCCATCCATCCATCCATCCAT CCATCCATCCATCCATTCATTCATCCATCCATCCATCCATCTACCCATCC ACCCACCCACCCACACACCTATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCACCCACCCACCCACCCACCCACCCATCCATCCATCC ACCCACCCACCCACCCACCCACCCATCCATCCATCCATCCATCCATCCAT CCAT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr22	TogoVar

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