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
MAD1L1_chr7_1810795_2237945	2210416	G G	GTATTCGG others(499): Show GTATTCGGGACCGCCAGCCCGCATTCCCGTGGACTCTCTAGGAGCCGTAT TCGGGACCGCCAGCCTGCATTCCCGTGGACTCTCTAGGAGCCGTATTCGG GACCGCCAGCCCGCATTCCCGTGGACTCTCTAGGAGCCGTATTCGGGACC GCCAGCCTGCATTCCCGTGGACTCTCTAGGAGCCATATTCGGGACCGCCA GCCCGCATTCCCGTGGACTCTCTAGGAGCCGTATTCGGGACCGCCAGCCT GCATTCCCGTGGACTCTCTAGGAGCCGTATTCGGGACCGCCAGCCCGCAT TCCCGTGGACTCTCTAGGAGCCGTATTCGGGACCGCCAGCCCGCATTCCC GTGGACTCTCTAGGAGCCGTATTCGGGACCGCCAGCCCGCATTCCCGTGG ACTCTCTAGGAGCCATATTCGGGACCGCCAGCCCGCATTCCCGTGGACTC TCTAGGAGCCGTATTCGGGACCGCCAGCCTGCATTCCCGTGGACTCTCTA GGAGCCA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0235	1	250	0.0040	506	c.986 others(523): Show c.986+2795_986+2796insTGGCTCCTAGAGAGTCCACGGGAATGCA GGCTGGCGGTCCCGAATACGGCTCCTAGAGAGTCCACGGGAATGCGGGCT GGCGGTCCCGAATATGGCTCCTAGAGAGTCCACGGGAATGCGGGCTGGCG GTCCCGAATACGGCTCCTAGAGAGTCCACGGGAATGCGGGCTGGCGGTCC CGAATACGGCTCCTAGAGAGTCCACGGGAATGCGGGCTGGCGGTCCCGAA TACGGCTCCTAGAGAGTCCACGGGAATGCAGGCTGGCGGTCCCGAATACG GCTCCTAGAGAGTCCACGGGAATGCGGGCTGGCGGTCCCGAATATGGCTC CTAGAGAGTCCACGGGAATGCAGGCTGGCGGTCCCGAATACGGCTCCTAG AGAGTCCACGGGAATGCGGGCTGGCGGTCCCGAATACGGCTCCTAGAGAG TCCACGGGAATGCAGGCTGGCGGTCCCGAATACGGCTCCTAGAGAGTCCA CGGGAATGCGGGCTGGCGGTCCCGAATA	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	10/18			chr7	TogoVar
MAEA_chr4_1284891_1345137	1317145	C C	CCACCCGG others(499): Show CCACCCGGTCCCACACTCCAGACTCACCCGCAGGCCCACCCCGGCCCCCA CACTCCAGACTCACCCGCAGGCCCACCCGGCCCCCACACTCCAGACTCAC CTGCAGGCCCACCCGGCCCCACACTCCAGACTCACCTGCAGGCCCACCCC AGCCCCCACACTCCAGACTCACCTGCAGGCCCACCCCAGCCCCCACACTC CAGACTCACCCGCAGGCCCACCCGGTCCCACACTCCAGACTCACCCGCAG GCCCACCCCGGCCCCCACACTCCAGACTCACCCGCAGGCCCACCCGGCCC CCACACTCCAGACTCACCTGCAGGCCCACCCGGCCCCACACTCCAGACTC ACCCGCAGGCCCACCCGGTCCCACACTCCAGACTCACCCGCAGGCCCACC CCAGCCCCCACACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCACAC TCCAGACTCACCCCCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCC GCAGGCT	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0002 a0001c0010t0002	a0001c0010t0002g0352 a0001c0010t0002g0352	1	321	0.0031	506	c.456 others(523): Show c.456+1550_456+1551insGGTCCCACACTCCAGACTCACCCGCAGG CCCACCCCGGCCCCCACACTCCAGACTCACCCGCAGGCCCACCCGGCCCC CACACTCCAGACTCACCTGCAGGCCCACCCGGCCCCACACTCCAGACTCA CCTGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCTGCAGGCCCAC CCCAGCCCCCACACTCCAGACTCACCCGCAGGCCCACCCGGTCCCACACT CCAGACTCACCCGCAGGCCCACCCCGGCCCCCACACTCCAGACTCACCCG CAGGCCCACCCGGCCCCCACACTCCAGACTCACCTGCAGGCCCACCCGGC CCCACACTCCAGACTCACCCGCAGGCCCACCCGGTCCCACACTCCAGACT CACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCCC ACCCCAGCCCCCACACTCCAGACTCACCCCCAGGCCCACCCCAGCCCCCA CACTCCAGACTCACCCGCAGGCTCACCC	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAN2B2_chr4_6570189_6628362	6579087	T T	TCACCACC others(499): Show TCACCACCACCACCACCACCACCACCATCACCACCACCACCCTTCACCAC CACCACCACCACCACCACCATCACCACCACCACCCTTCACCACCATCACC ACCACCACCATCACCACCACCATCACCATCACCACCACCACCATCACCAC CATCACCACCACCACCACCACCACCATCACCACCATCACCACCAACACCA CCACCACCATCACCACCATCACCATCACCACCATCACCACCACCACCACC ATCACCATCACCACCATCACCACCACCACCATCACCACCATCACCACCAT CACCATCACCACCACCACCACCACCACCATCACCACCATCACCATCACCA CCAACACCACCACCACCATCACCACCATCACCATCACCACCAACACCACC ACCACCATCACCACCATCACCATCACCACCATCACCACCACCACCACCAC CACCATCACCACCACCACCACCACCACCACCACCACCATCACCACCATCA CCATCAC	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	353	0.0028	506	c.391 others(521): Show c.391+594_391+595insCCACCACCACCACCACCACCATCACCACCA CCACCCTTCACCACCACCACCACCACCACCACCATCACCACCACCACCCT TCACCACCATCACCACCACCACCATCACCACCACCATCACCATCACCACC ACCACCATCACCACCATCACCACCACCACCACCACCACCATCACCACCAT CACCACCAACACCACCACCACCATCACCACCATCACCATCACCACCATCA CCACCACCACCACCATCACCATCACCACCATCACCACCACCACCATCACC ACCATCACCACCATCACCATCACCACCACCACCACCACCACCATCACCAC CATCACCATCACCACCAACACCACCACCACCATCACCACCATCACCATCA CCACCAACACCACCACCACCATCACCACCATCACCATCACCACCATCACC ACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCACCAC CATCACCACCATCACCATCACCACCA	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
MBNL3_chrX_132364320_132494038	132396705	T T	TATATAGA others(499): Show TATATAGATTCATATATATATATTCATATATAGATTCATATATATATATT CATATATAGATTCATATATAGATTCATATATAGATTCATATAGATTCATA TATAGATTCATATATATTCATATATATATTCATATATATTCATATATATA TTCATATATATATTCATATATATTCATATATATATTCATATATATATTCA TATATATATTCATATATATATTCATATATATTCATATATATATTCATATA TATTCATATATATATTCATATATATATTCATATATATTCATATATATATT CATATATATATTCATATATATATTCATATATATTCATATATATATTCATA TATATATTCATATATATATTCATATATATTCATATATATATTCATATATA TTCATATATATATTCATATATATTCATATATATATTCATATATATATTCA TATATATATTCATATATATATTCATATATATTCATATATATATTCATATA TATATTC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0093 a0001c0001t0018g0093	1	155	0.0065	506	c.343 others(523): Show c.343-4372_343-4371insGAATATATATATGAATATATATATGAAT ATATATGAATATATATATGAATATATATATGAATATATATATGAATATAT ATATGAATATATATGAATATATATATGAATATATATGAATATATATATGA ATATATATGAATATATATATGAATATATATATGAATATATATATGAATAT ATATGAATATATATATGAATATATATATGAATATATATATGAATATATAT GAATATATATATGAATATATATATGAATATATATGAATATATATATGAAT ATATATGAATATATATATGAATATATATATGAATATATATATGAATATAT ATATGAATATATATGAATATATATATGAATATATATATGAATATATATGA ATATATATATGAATATATATGAATCTATATATGAATCTATATGAATCTAT ATATGAATCTATATATGAATCTATATATGAATATATATATATGAATCTAT ATATGAATATATATATATGAATCTATAT	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MBNL3_chrX_132364320_132494038	132396745	T T	TATATTCA others(499): Show TATATTCATATATAGATTCATATATATATTCATATATAGATTCATATATA TTCATATATAGATTCATATATATTCATATATAGATTCATATATATATTCA TATATAGATTCATATATATTCATATATATATTCATATATATATTCATATA TATATTCATATATATTCATATATATATTCATATATATTCATATATATATT CATATATATATTCATATATATATTCATATATATATTCATATATATTCATA TATATTCATATATATATTCATATATATATTCATATATATATTCATATATA TTCATATATATATTCATATATATATTCATATATATTCATATATATATTCA TATATATTCATATATATTCATATATATTCATATATATATTCATATATATT CATATATATATTCATATATATTCATATATATATTCATATATATTCATATA TATATTCATATATATTCATATATATATTCATATATATATATATTCATATA TATATTC	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	109	0.0092	506	c.343 others(523): Show c.343-4412_343-4411insGAATATATATATGAATATATATATATAT GAATATATATATGAATATATATGAATATATATATGAATATATATGAATAT ATATATGAATATATATGAATATATATATGAATATATATGAATATATATAT GAATATATATGAATATATATGAATATATATGAATATATATATGAATATAT ATGAATATATATATGAATATATATATGAATATATATGAATATATATATGA ATATATATATGAATATATATATGAATATATATGAATATATATGAATATAT ATATGAATATATATATGAATATATATATGAATATATATATGAATATATAT GAATATATATATGAATATATATGAATATATATATGAATATATATATGAAT ATATATATGAATATATATGAATCTATATATGAATATATATATGAATCTAT ATATGAATATATATGAATCTATATATGAATATATATGAATCTATATATGA ATATATATATGAATCTATATATGAATAT	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MBNL3_chrX_132364320_132494038	132396745	T T	TATTCATA others(499): Show TATTCATATATAGATTCATATATATTCATATATAGATTCATATATATTCA TATATAGATTCATATATATATTCATATATATATTCATATATATTCATATA TATATTCATATATATATTCATATATATATTCATATATATTCATATATATA TTCATATATATATTCATATATATATTCATATATATATTCATATATATATT CATATATATTCATATATATTCATATATATATTCATATATATATTCATATA TATATTCATATATATTCATATATATATTCATATATATATTCATATATATA TTCATATATATTCATATATATATTCATATATATATTCATATATATATTCA TATATATTCATATATATTCATATATATTCATATATATATTCATATATATT CATATATATATTCATATATATTCATATATATATTCATATATATATTCATA TATATTCATATATATTCATATATATATTCATATATATATATATTCATATA TATATTC	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	109	0.0092	506	c.343 others(523): Show c.343-4412_343-4411insGAATATATATATGAATATATATATATAT GAATATATATATGAATATATATGAATATATATGAATATATATATGAATAT ATATATGAATATATATGAATATATATATGAATATATATGAATATATATAT GAATATATATGAATATATATGAATATATATGAATATATATATGAATATAT ATATGAATATATATATGAATATATATGAATATATATATGAATATATATAT GAATATATATATGAATATATATGAATATATATATGAATATATATATGAAT ATATATATGAATATATATGAATATATATGAATATATATATGAATATATAT ATGAATATATATATGAATATATATATGAATATATATATGAATATATATGA ATATATATATGAATATATATATGAATATATATATGAATATATATGAATAT ATATATGAATATATATATGAATCTATATATGAATATATATGAATCTATAT ATGAATATATATGAATCTATATATGAAT	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MCF2L2_chr3_183173041_183433619	183314931	T T	TTTTGAGA others(499): Show TTTTGAGACAGAATTTCACTCTTGTTGCCCAGGCTGGAGTACAATGGTAC GATCTCAGCTCATTGCAACCTCCGCCTCCCAGGTTCAAGAGATTCTCCTG CCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATGTCCGG GTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCGTGTTGGTCAGGCT GGTCTCAAACTCCCGACTTCAGGTGATCCACCCGCCTTGGCCTCCCAAAG TGCTGGTATTACAGGTGTGAGCCACTGCACCTGGCCAGTATCTCTTTTTT TCTAATATAAACCATTTCTCTCTTTAAGCCATTTTTGGATGAGAAAGAGG AAATATATAACTCTAGTTTAATGATTTTGGTATTCTTGCTTCTAAGCTAC AAGATAACGAACAAAGAAATCAGATTTGAATTAGGACAATAATCAGTAAT CACAAAAAGGCCTTAAGAAATTCTCTGTATTTTTTTGGTTTGTTTTTTGT TTGTTTG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02451.hp1 HG03139.hp1 others(6): Show HG02109.hp1 HG02451.hp1 HG03139.hp1 HG03831.hp1 HG04115.hp1 HG04184.hp1 NA18969.hp1 NA18994.hp1 NA19010.hp1	a0001 a0003 a0007 others(1): Show a0001 a0003 a0007 a0026	a0001c0001 a0001c0016 a0001c0023 others(3): Show a0001c0001 a0001c0016 a0001c0023 a0003c0003 a0007c0005 a0026c0019	a0001c0001t0001 a0001c0001t0002 a0001c0016t0011 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0016t0011 a0001c0023t0010 a0003c0003t0003 a0007c0005t0001 a0026c0019t0001	a0001c0001t0001g0050 a0001c0001t0001g0076 a0001c0001t0001g0134 others(6): Show a0001c0001t0001g0050 a0001c0001t0001g0076 a0001c0001t0001g0134 a0001c0001t0002g0122 a0001c0016t0011g0163 a0001c0023t0010g0008 a0003c0003t0003g0049 a0007c0005t0001g0033 a0026c0019t0001g0032	9	130	0.0692	506	c.753 others(523): Show c.753+3136_753+3137insCAAACAAACAAAAAACAAACCAAAAAAA TACAGAGAATTTCTTAAGGCCTTTTTGTGATTACTGATTATTGTCCTAAT TCAAATCTGATTTCTTTGTTCGTTATCTTGTAGCTTAGAAGCAAGAATAC CAAAATCATTAAACTAGAGTTATATATTTCCTCTTTCTCATCCAAAAATG GCTTAAAGAGAGAAATGGTTTATATTAGAAAAAAAGAGATACTGGCCAGG TGCAGTGGCTCACACCTGTAATACCAGCACTTTGGGAGGCCAAGGCGGGT GGATCACCTGAAGTCGGGAGTTTGAGACCAGCCTGACCAACACGGAGAAA CCCCATCTCTACTAAAAATACAAAATTACCCGGACATGGTGGTGCATGCC TGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCTCTTGAACCTG GGAGGCGGAGGTTGCAATGAGCTGAGATCGTACCATTGTACTCCAGCCTG GGCAACAAGAGTGAAATTCTGTCTCAAA	MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	7/29			chr3	TogoVar
MPPED1_chr22_43407014_43512848	43432640	A A	AAAGGGAG others(499): Show AAAGGGAGGAGAGAGACGGAAAGAGAGAGAGAAGGGGAGGAGAGAGAGAA AGGGAGGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGATA AAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAG AGGGAAAGAGAAAGGGAGGAGAGAGAGGGAAAGAGAGAAGGGGAGGAGAG AGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGA GAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAG AGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGA GAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGA GGAGAGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAGAGAAAG GGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAGATA AAGGGAG	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0010 a0001c0008t0010	a0001c0008t0010g0063 a0001c0008t0010g0063	1	64	0.0156	506	c.225 others(523): Show c.225-2394_225-2393insAAGGGAGGAGAGAGACGGAAAGAGAGAG AGAAGGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGA GAGAAAGGGAGGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAG AGAGAAAGGGAGGAGAGAGAGAGGGAAAGAGAAAGGGAGGAGAGAGAGGG AAAGAGAGAAGGGGAGGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGA GAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGA GGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAAAGGGAG GAGAGAGAGAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGAAAGG GAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAA AGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGA GAAAGGGAGGAGAGAGAGATAAAGGGAG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	2/6			chr22	TogoVar
MPPED1_chr22_43407014_43512848	43432640	A A	AAAGGGAG others(499): Show AAAGGGAGGAGAGAGACGGAAAGAGAGAGAGAAGGGGAGGAGAGAGAGAA AGGGAGGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGATA AAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAG AGGGAAAGAGAAAGGGAGGAGAGAGAGGGAAAGAGAGAAGGGGAGGAGAG AGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGA GAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAG AGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGA GAGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGG AGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAG GGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAGATA AAGGGAG	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0209 a0001c0001t0007g0209	1	64	0.0156	506	c.225 others(523): Show c.225-2394_225-2393insAAGGGAGGAGAGAGACGGAAAGAGAGAG AGAAGGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGA GAGAAAGGGAGGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAG AGAGAAAGGGAGGAGAGAGAGAGGGAAAGAGAAAGGGAGGAGAGAGAGGG AAAGAGAGAAGGGGAGGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGA GAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGA GGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGG AGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAAAGG GAGGAGAGAGAGAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGAA AGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGA GAAAGGGAGGAGAGAGAGATAAAGGGAG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	2/6			chr22	TogoVar
MRTFA_chr22_40405289_40641719	40537628	T T	TGGGAGGT others(499): Show TGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCG GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGG CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGTGGGGGGGTCG GCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTG CCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCC CCGTCCAGGAGGGAGGTGGGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCC GCCCCATCCGGGAGGGAGGTGGGGGGGTCAGTCCCCCGCCTGGCCAGCCG TGCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGC CACGTCC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0013 a0001c0003t0001g0013	1	32	0.0313	506	c.241 others(525): Show c.241+14477_241+14478insGGACGTGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCCACCTCCCTCCCGGACGGCACGGCTGGCCAGGCGGGGGA CTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGG CTGACCCCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCGGGG GGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGG GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC CCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCACACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCC	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MRTFA_chr22_40405289_40641719	40537628	T T	TGGGAGGT others(499): Show TGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCG GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGG CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGTGGGGGGGTCG GCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTG CCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCC CCGTCCAGGAGGGAGGTGGGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCC GCCCCATCCGGGAGGGAGGTGGGGGGGTCAGTCCCCCGCCTGGCCAGCCG TGCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGC CACGTCC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG02559.hp2 HG02818.hp1 others(2): Show HG00280.hp2 HG02559.hp2 HG02818.hp1 NA18959.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0168 a0001c0001t0001g0201 a0001c0001t0002g0238 others(2): Show a0001c0001t0001g0168 a0001c0001t0001g0201 a0001c0001t0002g0238 a0001c0002t0001g0160 a0001c0002t0001g0161	5	36	0.1389	506	c.241 others(525): Show c.241+14477_241+14478insGGACGTGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCCACCTCCCTCCCGGACGGCACGGCTGGCCAGGCGGGGGA CTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGG CTGACCCCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCGGGG GGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGG GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC CCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCACACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCC	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MSH4_chr1_75791882_75918242	75906495	T T	TATTATAT others(499): Show TATTATATATAATATATATACAATATTATATATATTATATATAATATATA TACATATTATATATATTATATATATACATATATATGTATATATACATATA TAATATGTATATATGTATATATATGTATAATATATATATTGTATATATAT ATTATACATATATATATATATATTATACATATATATATGTATAATATATA TAATGTATATATATACATATTATATATTATATATAATATATACATATATA TTATATATAATATATACATATTATATATTATATATATAATATATATACAT ATTATATTATATATAATATATATACATATTACATATATTATATATAATAT ATATACATATATAATATATTATATATTATATATAATATATATAATATATA ATATATATATAATATAATATATTATATATTATATATAATATATATAATAT ATAATATATTATATATTATATATAATATATATAATATATAATATATTATA TAATATA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02083.hp1 HG02135.hp2 others(1): Show HG02056.hp1 HG02083.hp1 HG02135.hp2 NA19060.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0267 a0001c0002t0001g0268 a0001c0002t0001g0269 others(1): Show a0001c0002t0001g0267 a0001c0002t0001g0268 a0001c0002t0001g0269 a0001c0002t0001g0310	4	266	0.0150	506	c.262 others(525): Show c.2620-6201_2620-6200insATTATATATAATATATATACAATATT ATATATATTATATATAATATATATACATATTATATATATTATATATATAC ATATATATGTATATATACATATATAATATGTATATATGTATATATATGTA TAATATATATATTGTATATATATATTATACATATATATATATATATTATA CATATATATATGTATAATATATATAATGTATATATATACATATTATATAT TATATATAATATATACATATATATTATATATAATATATACATATTATATA TTATATATATAATATATATACATATTATATTATATATAATATATATACAT ATTACATATATTATATATAATATATATACATATATAATATATTATATATT ATATATAATATATATAATATATAATATATATATAATATAATATATTATAT ATTATATATAATATATATAATATATAATATATTATATATTATATATAATA TATATAATATATAATATATTATATAATATA	MSH4	ENSG00000057468.7	transcript	ENST00000263187.4	protein_coding	19/19			chr1	TogoVar
MSH4_chr1_75791882_75918242	75906495	T T	TATTATAT others(499): Show TATTATATATAATATATATACAATATTATATATATTATATATAATATATA TACATATTATATATATTATATATATACATATATATGTATATATACATATA TAATATGTATATATGTATATATATGTATAATATATATATTGTATATATAT ATTATACATATGTATATATATATTATACATATATATATGTATAATATATA TAATGTATATATATACATATTATATATTATATATAATATATACATATATA TTATATATAATATATACATATTATATATTATATATATAATATATATACAT ATTATATTATATATAATATATATACATATAACATATATTATATATAATAT ATATACATATATAATATATTATATATTATATATAATATATATAATATATA ATATATATATAATATAATATATTATATATTATATATAATATATATAATAT ATAATATATTATATATTATATATAATATATATAATATATAATATATTATA TAATATA	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0301 a0001c0002t0001g0301	1	263	0.0038	506	c.262 others(525): Show c.2620-6201_2620-6200insATTATATATAATATATATACAATATT ATATATATTATATATAATATATATACATATTATATATATTATATATATAC ATATATATGTATATATACATATATAATATGTATATATGTATATATATGTA TAATATATATATTGTATATATATATTATACATATGTATATATATATTATA CATATATATATGTATAATATATATAATGTATATATATACATATTATATAT TATATATAATATATACATATATATTATATATAATATATACATATTATATA TTATATATATAATATATATACATATTATATTATATATAATATATATACAT ATAACATATATTATATATAATATATATACATATATAATATATTATATATT ATATATAATATATATAATATATAATATATATATAATATAATATATTATAT ATTATATATAATATATATAATATATAATATATTATATATTATATATAATA TATATAATATATAATATATTATATAATATA	MSH4	ENSG00000057468.7	transcript	ENST00000263187.4	protein_coding	19/19			chr1	TogoVar
MSH4_chr1_75791882_75918242	75906495	T T	TATTATAT others(499): Show TATTATATATAATATATATACAATATTATATATATTATATATAATATATA TACATATTATATATATTATATATATACATATATATGTATATATACATATA TAATATGTATATATGTATATATATGTATAATATATATATTGTATATATAT ATTATACATATGTATATATATATTATACATATATATATGTATAATATATA TAATGTATATATATACATATTATATATTATATATAATATATACATATATA TTATATATAATATATACATATTATATATTATATATATAATATATATACAT ATTATATTATATATAATATATATACATATTACATATATTATATATAATAT ATATACATATATAATATATTATATATTATATATAATATATATAATATATA ATATATATATAATATAATATATTATATATTATATATAATATATATAATAT ATAATATATTATATATTATATATAATATATATAATATATAATATATTATA TAATATA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01069.hp1 HG01358.hp2 others(35): Show HG00558.hp2 HG01069.hp1 HG01358.hp2 HG01361.hp1 HG01952.hp2 HG01978.hp2 HG02015.hp2 HG02071.hp2 HG02148.hp2 HG02273.hp2 HG03669.hp2 NA18939.hp2 NA18943.hp2 NA18946.hp2 NA18959.hp2 NA18960.hp1 NA18961.hp2 NA18962.hp1 NA18970.hp1 NA18973.hp1 NA18975.hp2 NA18977.hp1 NA18979.hp2 NA18982.hp2 NA18984.hp2 NA18989.hp1 NA18994.hp1 NA18998.hp2 NA19001.hp2 NA19054.hp2 NA19056.hp1 NA19057.hp1 NA19066.hp1 NA19070.hp1 NA19079.hp1 NA19082.hp2 NA19083.hp2 NA19085.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0001c0002t0005 a0002c0003t0001 a0001c0002t0001 a0001c0002t0005 a0002c0003t0001	a0001c0002t0001g0275 a0001c0002t0001g0276 a0001c0002t0001g0277 others(35): Show a0001c0002t0001g0275 a0001c0002t0001g0276 a0001c0002t0001g0277 a0001c0002t0001g0279 a0001c0002t0001g0283 a0001c0002t0001g0284 a0001c0002t0001g0285 a0001c0002t0001g0287 a0001c0002t0001g0288 a0001c0002t0001g0289 a0001c0002t0001g0290 a0001c0002t0001g0293 a0001c0002t0001g0294 a0001c0002t0001g0295 a0001c0002t0001g0296 a0001c0002t0001g0297 a0001c0002t0001g0299 a0001c0002t0001g0300 a0001c0002t0001g0304 a0001c0002t0001g0305 a0001c0002t0001g0306 a0001c0002t0001g0307 a0001c0002t0001g0308 a0001c0002t0001g0311 a0001c0002t0001g0312 a0001c0002t0001g0316 a0001c0002t0001g0317 a0001c0002t0001g0318 a0001c0002t0001g0319 a0001c0002t0001g0320 a0001c0002t0001g0321 a0001c0002t0001g0322 a0001c0002t0001g0323 a0001c0002t0001g0324 a0001c0002t0001g0325 a0001c0002t0001g0326 a0001c0002t0005g0282 a0002c0003t0001g0155	38	300	0.1267	506	c.262 others(525): Show c.2620-6201_2620-6200insATTATATATAATATATATACAATATT ATATATATTATATATAATATATATACATATTATATATATTATATATATAC ATATATATGTATATATACATATATAATATGTATATATGTATATATATGTA TAATATATATATTGTATATATATATTATACATATGTATATATATATTATA CATATATATATGTATAATATATATAATGTATATATATACATATTATATAT TATATATAATATATACATATATATTATATATAATATATACATATTATATA TTATATATATAATATATATACATATTATATTATATATAATATATATACAT ATTACATATATTATATATAATATATATACATATATAATATATTATATATT ATATATAATATATATAATATATAATATATATATAATATAATATATTATAT ATTATATATAATATATATAATATATAATATATTATATATTATATATAATA TATATAATATATAATATATTATATAATATA	MSH4	ENSG00000057468.7	transcript	ENST00000263187.4	protein_coding	19/19			chr1	TogoVar
MSH4_chr1_75791882_75918242	75906495	T T	TATTATAT others(499): Show TATTATATATAATATATATACAATATTATATATATTATATATAATATATA TACATATTATATATATTATATATATACATATATATGTATATATACATATA TAATATGTATATATGTATATATATGTATAATATATATATTGTATATATAT ATTATACATATGTATATATATATTATACATATATATATGTATAATATATA TAATGTATATATATACATATTATATATTATATATAATATATACATATATA TTATATATAATATATACATATTATATATTATATATATAATATATATACAT ATTATATTATATATAATATATATACATATTACATATATTATATATAATAT ATATACATATATAATATATTATATATTATATATAATATATATAATATATA ATATATATATAATATAATATATTATATATTATATATAATATATATAATAT ATAATATATTATATATTATATATAATATATATAATATATAATATATTGTA TAATATA	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0291 a0001c0002t0001g0291	1	263	0.0038	506	c.262 others(525): Show c.2620-6201_2620-6200insATTATATATAATATATATACAATATT ATATATATTATATATAATATATATACATATTATATATATTATATATATAC ATATATATGTATATATACATATATAATATGTATATATGTATATATATGTA TAATATATATATTGTATATATATATTATACATATGTATATATATATTATA CATATATATATGTATAATATATATAATGTATATATATACATATTATATAT TATATATAATATATACATATATATTATATATAATATATACATATTATATA TTATATATATAATATATATACATATTATATTATATATAATATATATACAT ATTACATATATTATATATAATATATATACATATATAATATATTATATATT ATATATAATATATATAATATATAATATATATATAATATAATATATTATAT ATTATATATAATATATATAATATATAATATATTATATATTATATATAATA TATATAATATATAATATATTGTATAATATA	MSH4	ENSG00000057468.7	transcript	ENST00000263187.4	protein_coding	19/19			chr1	TogoVar
MSRB3_chr12_65273683_65471907	65425002	C C	CTATATAT others(499): Show CTATATATATATATTTAGGTCCTCTGGTTTTGGTCATATGTATAAATATA TATAAATATATATATAAATATATATAAATATATATAAATATATATATAAA TATATATAAATATATATAAATATATATATAAATATAAATATATATATAAA TATATATAAATATATATAAATATATATTTAGCTATATTTATATCAGATAA AATGGATTAAAAGTCAAAAACTGTAAAATGAGACAAAGAAGGCCATTATA TAACGATAAAGCAGTCAATTCTTCAAGAGCATATAACTACTGTAAATATA TATATTATATATATATAAAACCAAAACCAGAAGACCTAATTATATATATA TATTTAGGTCCTCTGGTTTTGGTTTTTTTTATATATATATATATATTTAG GTCTTCTGGTTTTGGTTTTATATATATATTTATATATTTATATAAATATA AATATATAAATATATATAATTATATATATATTTAGGTCCTCTGGTTTTGG TTATATG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp1 HG02040.hp1 others(10): Show HG00438.hp1 HG00558.hp1 HG02040.hp1 HG02056.hp1 HG02074.hp2 HG03490.hp2 NA18965.hp1 NA19000.hp2 NA19056.hp2 NA19084.hp1 NA19085.hp1 NA20300.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0050 a0001c0001t0005g0054 a0001c0001t0005g0074 others(10): Show a0001c0001t0005g0050 a0001c0001t0005g0054 a0001c0001t0005g0074 a0001c0001t0005g0080 a0001c0001t0005g0081 a0001c0001t0005g0082 a0001c0001t0005g0084 a0001c0001t0005g0085 a0001c0001t0005g0119 a0001c0001t0005g0120 a0001c0001t0005g0121 a0001c0001t0005g0122 a0001c0001t0005g0297	13	20	0.6500	506	c.293 others(525): Show c.293-28693_293-28692insCATATGTATAAATATATATAAATATA TATATAAATATATATAAATATATATAAATATATATATAAATATATATAAA TATATATAAATATATATATAAATATAAATATATATATAAATATATATAAA TATATATAAATATATATTTAGCTATATTTATATCAGATAAAATGGATTAA AAGTCAAAAACTGTAAAATGAGACAAAGAAGGCCATTATATAACGATAAA GCAGTCAATTCTTCAAGAGCATATAACTACTGTAAATATATATATTATAT ATATATAAAACCAAAACCAGAAGACCTAATTATATATATATATTTAGGTC CTCTGGTTTTGGTTTTTTTTATATATATATATATATTTAGGTCTTCTGGT TTTGGTTTTATATATATATTTATATATTTATATAAATATAAATATATAAA TATATATAATTATATATATATTTAGGTCCTCTGGTTTTGGTTATATGTAT ATATATATATTTAGGTCCTCTGGTTTTGGT	MSRB3	ENSG00000174099.12	transcript	ENST00000308259.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr12	TogoVar
MUSK_chr9_110663791_110811558	110690669	T T	TATATATA others(499): Show TATATATATTTATATATAAGTATATATATATATATTTATATATAAGTATA TATATATATTTATATATAAGTATATATATATATTTATATATAAGTATATA TATAAATATATATATTTATATATAAGTATATATATATTTATATATAAGTA TATATAAATATATATATTTATATATAAGTGTATATATATAAATATATATA TTTATATATAAGTATATATAAATATATATATTTATATATAAGTATATATA AATATATATATTTATATATAAGTATATATAAATATATACATTTATATATA AGTATATATAAATATATATATTTAAATATAAGTATATATAAATATATATA TTTAAATATAAGTATATATATAAATATATATTTAAATATAAGTATATATA AATATATATTTAAATATAAGTATATATATAAATATATATTTAAATATAAG TATATATATAAATATAAGTATATATATAAATATATATTTAAATATAAGTA TATAGAA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0018 a0002c0012t0018	a0002c0012t0018g0044 a0002c0012t0018g0044	1	236	0.0042	506	c.358 others(523): Show c.358+3412_358+3413insTATATAAGTATATATATATATATTTATA TATAAGTATATATATATATTTATATATAAGTATATATATATATTTATATA TAAGTATATATATAAATATATATATTTATATATAAGTATATATATATTTA TATATAAGTATATATAAATATATATATTTATATATAAGTGTATATATATA AATATATATATTTATATATAAGTATATATAAATATATATATTTATATATA AGTATATATAAATATATATATTTATATATAAGTATATATAAATATATACA TTTATATATAAGTATATATAAATATATATATTTAAATATAAGTATATATA AATATATATATTTAAATATAAGTATATATATAAATATATATTTAAATATA AGTATATATAAATATATATTTAAATATAAGTATATATATAAATATATATT TAAATATAAGTATATATATAAATATAAGTATATATATAAATATATATTTA AATATAAGTATATAGAAATATATATTTA	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MUSK_chr9_110663791_110811558	110690701	T T	TATATATA others(499): Show TATATATATTTATATATAAGTATATATATATATATTTATATATAAGTATA TATATATATTTATATATAAGTATATATATATATTTATATATAAGTATATA TATAAATATATATATTTATATATAAGTATATATATATTTATATATAAGTA TATATAAATATATATATTTATATATAAGTGTATATATATAAATATATATA TTTATATATAAGTATATATAAATATATATATTTATATATAAATATATATA AATATATATATTTATATATAAGTATATATAAATATATATATTTATATATA AGTATATATAAATATATATATTTAAATATAAGTATATATAAATATATATA TTTAAATATAAGTATATATATAAATATATATTTAAATATAAGTATATATA AATATATATTTAAATATAAGTATATATATAAATATATATTTAAATATAAG TATATATATAAATATAAGTATATATATAAATATATATTTAAATATAAGTA TATAGAA	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0107 a0004c0006t0001g0107	1	238	0.0042	506	c.358 others(523): Show c.358+3444_358+3445insTATATAAGTATATATATATATATTTATA TATAAGTATATATATATATTTATATATAAGTATATATATATATTTATATA TAAGTATATATATAAATATATATATTTATATATAAGTATATATATATTTA TATATAAGTATATATAAATATATATATTTATATATAAGTGTATATATATA AATATATATATTTATATATAAGTATATATAAATATATATATTTATATATA AATATATATAAATATATATATTTATATATAAGTATATATAAATATATATA TTTATATATAAGTATATATAAATATATATATTTAAATATAAGTATATATA AATATATATATTTAAATATAAGTATATATATAAATATATATTTAAATATA AGTATATATAAATATATATTTAAATATAAGTATATATATAAATATATATT TAAATATAAGTATATATATAAATATAAGTATATATATAAATATATATTTA AATATAAGTATATAGAAATATATATTTA	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MUSK_chr9_110663791_110811558	110690701	T T	TATATATA others(499): Show TATATATATTTATATATAAGTATATATATATATATTTATATATAAGTATA TATATATATTTATATATAAGTATATATATATATTTATATATAAGTATATA TATAAATATATATATTTATATATAAGTATATATATATTTATATATAAGTA TATATAAATATATATATTTATATATAAGTGTATATATATAAATATATATA TTTATATATAAGTATATATAAATATATATATTTATATATAAGTATATATA AATATATATATTTATATATAAGTATATATAAATATATATATTTATATATA AGTATATATAAATATATATATTTAAATATAAGTATATATAAATATATATA TTTAAATATAAGTATATATATAAATATATATTTAAATATAAGTATATATA AATATATATTTAAATATAAGTATATATATAAATATATATTTAAATATAAG TATATATATAAATATAAGTATATATATAAATATATATTTAAATATAAGTA TATAGAA	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18953.hp1 NA18960.hp1 others(4): Show NA18951.hp2 NA18953.hp1 NA18960.hp1 NA19060.hp2 NA19064.hp1 NA19077.hp2 NA19082.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0004c0006 a0001c0002 a0004c0006	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(1): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0004c0006t0004	a0001c0002t0001g0098 a0001c0002t0002g0104 a0001c0002t0002g0105 others(4): Show a0001c0002t0001g0098 a0001c0002t0002g0104 a0001c0002t0002g0105 a0001c0002t0003g0102 a0004c0006t0004g0096 a0004c0006t0004g0099 a0004c0006t0004g0106	7	244	0.0287	506	c.358 others(523): Show c.358+3444_358+3445insTATATAAGTATATATATATATATTTATA TATAAGTATATATATATATTTATATATAAGTATATATATATATTTATATA TAAGTATATATATAAATATATATATTTATATATAAGTATATATATATTTA TATATAAGTATATATAAATATATATATTTATATATAAGTGTATATATATA AATATATATATTTATATATAAGTATATATAAATATATATATTTATATATA AGTATATATAAATATATATATTTATATATAAGTATATATAAATATATATA TTTATATATAAGTATATATAAATATATATATTTAAATATAAGTATATATA AATATATATATTTAAATATAAGTATATATATAAATATATATTTAAATATA AGTATATATAAATATATATTTAAATATAAGTATATATATAAATATATATT TAAATATAAGTATATATATAAATATAAGTATATATATAAATATATATTTA AATATAAGTATATAGAAATATATATTTA	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MUSK_chr9_110663791_110811558	110690701	T T	TATATATA others(499): Show TATATATATTTATATATAAGTATATATATATATATTTATATATAAGTATA TATATATATTTATATATAAGTATATATATATATTTATATATAAGTATATA TATAAATATATATATTTATATATAAGTATATATATATTTATATATAAGTA TATATAAATATATATATTTATATATAAGTGTATATATATAAATATATATA TTTATATATAAGTATATATAAATATATATATTTATATATAAGTATATATA AATATATATATTTATATATACGTATATATAAATATATATATTTATATATA AGTATATATAAATATATATATTTAAATATAAGTATATATAAATATATATA TTTAAATATAAGTATATATATAAATATATATTTAAATATAAGTATATATA AATATATATTTAAATATAAGTATATATATAAATATATATTTAAATATAAG TATATATATAAATATAAGTATATATATAAATATATATTTAAATATAAGTA TATAGAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01175.hp2 HG01109.hp2 HG01175.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0108 a0001c0002t0003g0126 a0001c0002t0003g0108 a0001c0002t0003g0126	2	239	0.0084	506	c.358 others(523): Show c.358+3444_358+3445insTATATAAGTATATATATATATATTTATA TATAAGTATATATATATATTTATATATAAGTATATATATATATTTATATA TAAGTATATATATAAATATATATATTTATATATAAGTATATATATATTTA TATATAAGTATATATAAATATATATATTTATATATAAGTGTATATATATA AATATATATATTTATATATAAGTATATATAAATATATATATTTATATATA AGTATATATAAATATATATATTTATATATACGTATATATAAATATATATA TTTATATATAAGTATATATAAATATATATATTTAAATATAAGTATATATA AATATATATATTTAAATATAAGTATATATATAAATATATATTTAAATATA AGTATATATAAATATATATTTAAATATAAGTATATATATAAATATATATT TAAATATAAGTATATATATAAATATAAGTATATATATAAATATATATTTA AATATAAGTATATAGAAATATATATTTA	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MUSK_chr9_110663791_110811558	110690701	T T	TATATATA others(499): Show TATATATATTTATATATAAGTATATATATATATATTTATATATAAGTATA TATATATATTTATATATAAGTATATATATATATTTATATATAAGTATATA TATAAATATATATATTTATATATAAGTATATATATATTTATATATAAGTA TATATAAATATATATATTTATATATAAGTGTATATATATAAATATATATA TTTATATATAAGTGTATATAAATATATATATTTATATATAAGTATATATA AATATATATATTTATATATAAGTATATATAAATATATATATTTATATATA AGTATATATAAATATATATATTTAAATATAAGTATATATAAATATATATA TTTAAATATAAGTATATATATAAATATATATTTAAATATAAGTATATATA AATATATATTTAAATATAAGTATATATATAAATATATATTTAAATATAAG TATATATATAAATATAAGTATATATATAAATATATATTTAAATATAAGTA TATAGAA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01070.hp1 HG01071.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0094 a0001c0002t0002g0095 a0001c0002t0002g0094 a0001c0002t0002g0095	2	239	0.0084	506	c.358 others(523): Show c.358+3444_358+3445insTATATAAGTATATATATATATATTTATA TATAAGTATATATATATATTTATATATAAGTATATATATATATTTATATA TAAGTATATATATAAATATATATATTTATATATAAGTATATATATATTTA TATATAAGTATATATAAATATATATATTTATATATAAGTGTATATATATA AATATATATATTTATATATAAGTGTATATAAATATATATATTTATATATA AGTATATATAAATATATATATTTATATATAAGTATATATAAATATATATA TTTATATATAAGTATATATAAATATATATATTTAAATATAAGTATATATA AATATATATATTTAAATATAAGTATATATATAAATATATATTTAAATATA AGTATATATAAATATATATTTAAATATAAGTATATATATAAATATATATT TAAATATAAGTATATATATAAATATAAGTATATATATAAATATATATTTA AATATAAGTATATAGAAATATATATTTA	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MYT1_chr20_64159452_64247253	64233262	T T	TCCCCTTT others(499): Show TCCCCTTTCCCTCCTCCCCTCTTCCCTCCCTCTCTCTCCTCCCCCTCCCC TCTTCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCTCCCTCCCCTTCCC CTCCCCTCTCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTTCCCCTCCCC TCTCCCTCCCCTTCCCCTCCCCTCTCCCTCCCCTTCCCCTCCCCTCTCCC TCCCCTTCCTCTCCCCTCTCCCTCCCCTTCCTCTCCCCTCTCCCTTCCCT TTTGCCTCCTCTCCCCTCCCCTTCCCCTCCCCTCCTCTTCCCCTCCCCTC TCCTTCCCCTTTCCCTCCTCCCCTCTTCCCTCCCTCTCTCTCCTCCCCCT CCCCTCTTCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CTCCCTCCCCTTCCCCTCCCCTCTCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCTCCCTCCCCTTCCCCTCCCCTCTCCCTCCCCTTCCTCTCCCCTC TCCCTCC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0140 a0001c0001t0003g0140	1	32	0.0313	506	c.289 others(523): Show c.2897+879_2897+880insCCTTTCCCTCCTCCCCTCTTCCCTCCCT CTCTCTCCTCCCCCTCCCCTCTTCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCTCCCTCCCCTTCCCCTCCCCTCTCCCTCCCCTCCCCCTCCCCTCC CCCTCCCCTTCCCCTCCCCTCTCCCTCCCCTTCCCCTCCCCTCTCCCTCC CCTTCCCCTCCCCTCTCCCTCCCCTTCCTCTCCCCTCTCCCTCCCCTTCC TCTCCCCTCTCCCTTCCCTTTTGCCTCCTCTCCCCTCCCCTTCCCCTCCC CTCCTCTTCCCCTCCCCTCTCCTTCCCCTTTCCCTCCTCCCCTCTTCCCT CCCTCTCTCTCCTCCCCCTCCCCTCTTCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCCTCCCCTCTCCCTCCCCTTCCCCTCCCCTCTCCCTCCC CTCCCCCTCCCCTCCCCCTCCCCTCTCCCTCCCCTTCCCCTCCCCTCTCC CTCCCCTTCCTCTCCCCTCTCCCTCCCC	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64233262	T T	TCCCCTTT others(499): Show TCCCCTTTCCCTCCTCCCCTCTTCCCTCCCTCTCTCTCCTCCCCCTCCCC TCTTCCCTCCCCTCCCCCTCCCCTCTCCCTCCCCTTCCCCTCCCCTCTCC CTCCCCTCCCCCTCCCCTCCCCCTCCCCTTCCCCTCCCCTCTCCCTCCCC TTCCCCTCCCCTCTCCCTCCCCTTCCCCTCCCCTCTCCCTCCCCTTCCTC TCCCCTCTCCCTCCCCTTCCTCTCCCCTCTCCCTTCCCTTTTGCCTCCTC TCCCCTCCCCTTCCCCTCCCCTCCTCTTCCCCTCCCCTCTCCTTCCCCTT TCCCTCCTCCCCTCTTCCCTCCCTCTCTCTCCTCCCCCTCCCCTCTTCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CTCCCTCCCCTTCCCCTCCCCTCTCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCTCCCTCCCCTTCCCCTCCCCTCTCCCTCCCCTTCCTCTCCCCTC TCCCTCC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0003 a0004c0010t0003	a0004c0010t0003g0114 a0004c0010t0003g0114	1	32	0.0313	506	c.289 others(523): Show c.2897+879_2897+880insCCTTTCCCTCCTCCCCTCTTCCCTCCCT CTCTCTCCTCCCCCTCCCCTCTTCCCTCCCCTCCCCCTCCCCTCTCCCTC CCCTTCCCCTCCCCTCTCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTTC CCCTCCCCTCTCCCTCCCCTTCCCCTCCCCTCTCCCTCCCCTTCCCCTCC CCTCTCCCTCCCCTTCCTCTCCCCTCTCCCTCCCCTTCCTCTCCCCTCTC CCTTCCCTTTTGCCTCCTCTCCCCTCCCCTTCCCCTCCCCTCCTCTTCCC CTCCCCTCTCCTTCCCCTTTCCCTCCTCCCCTCTTCCCTCCCTCTCTCTC CTCCCCCTCCCCTCTTCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCCTCCCCTCTCCCTCCCCTTCCCCTCCCCTCTCCCTCCC CTCCCCCTCCCCTCCCCCTCCCCTCTCCCTCCCCTTCCCCTCCCCTCTCC CTCCCCTTCCTCTCCCCTCTCCCTCCCC	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
NARS1_chr18_57595656_57626836	57618742	T T	TAAGAAAC others(499): Show TAAGAAACAAATTAGATGACAATGGCGGTTTTGTGGAATAGAAAGGCGGG AAGGGTGGGGAAAAAATTGAGAAATCAGATGGTTGCCGGGTCTGTGTGGA TAGAAGTAGACATGGGAGACTTTTCATTTTGTTCTGTACTAAGAAAAATT CTTCTGCCTTGGGATCCTGTTGATCTGTGACCTTATCCCCAACCCTGTGC TCTCTGAAACATGTGCTGTGTCCACTCAGGGTTAAATGGATTAAGGGCGG TGCAAGATGTGCTTTGTTAAACAGATGCTTGAAGGCAGCATGCTGGTTAA GAGTCATCACCACTCCCTAATCTTAAGTACCCAGGGACACAAACACTGCG GAAGGCCACAGGGTCCTCTGCCTAGGAAAACCAGAGACCTTTGTTCACTT GTTTATCTGCTGACCTTCCCTCCACTATTGTCCTATGACCCTGCCAAATC CCCCTCTGCGAGAAACACCCAAGAATGATCAATAAAAAAAAAAAAAAAAA AAAAAAA	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	418	0.0024	506	c.93+ others(521): Show c.93+1826_93+1827insTTTTTTTTTTTTTTTTTTTTTTTTATTGAT CATTCTTGGGTGTTTCTCGCAGAGGGGGATTTGGCAGGGTCATAGGACAA TAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTT TCCTAGGCAGAGGACCCTGTGGCCTTCCGCAGTGTTTGTGTCCCTGGGTA CTTAAGATTAGGGAGTGGTGATGACTCTTAACCAGCATGCTGCCTTCAAG CATCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATCCATTTAACCCT GAGTGGACACAGCACATGTTTCAGAGAGCACAGGGTTGGGGATAAGGTCA CAGATCAACAGGATCCCAAGGCAGAAGAATTTTTCTTAGTACAGAACAAA ATGAAAAGTCTCCCATGTCTACTTCTATCCACACAGACCCGGCAACCATC TGATTTCTCAATTTTTTCCCCACCCTTCCCGCCTTTCTATTCCACAAAAC CGCCATTGTCATCTAATTTGTTTCTT	NARS1	ENSG00000134440.12	transcript	ENST00000256854.10	protein_coding	2/13			chr18	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTGTAC others(499): Show CTGTGTACAGCATGTATACTGTGTACAGCATGTATACTGTATACAGCATG TATACTGTATGTATGTATACTGTATGTATGTATACTGTATGTATGTATAC CGTATATATACACAGTATGTATACCGTATATATACACAGTATGTATACCG TATATATACACAGTATGTATACCGTGTATATATACACAGTATGTATACCG TGTATATATACACAGTATGTATACCGTGTATATATACACAGTATGTATAC TGTGTATATATACACAGTATGTATACTGCATACAGTATGTATACTGTATA CATACTGCATGCAGTATGTATACTGTATATATACACTATACAGTATGTAT ACTGTATATATACACTATACAGTATGTATACTGTATATATACACTATACA GTATGTATACTGTATATATACACACAGTATGTATACTGTATATATACACA CAGTATGTATACTGTATATATACACACAGTATGTATACTGTATATATACA CACAGTA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0204 a0001c0001t0029g0204	1	118	0.0085	506	c.-75 others(525): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTATA CATACTGTGTGTATATATACAGTATACATACTGTATAGTGTATATATACA GTATACATACTGTATAGTGTATATATACAGTATACATACTGTATAGTGTA TATATACAGTATACATACTGCATGCAGTATGTATACAGTATACATACTGT ATGCAGTATACATACTGTGTATATATACACAGTATACATACTGTGTATAT ATACACGGTATACATACTGTGTATATATACACGGTATACATACTGTGTAT ATATACACGGTATACATACTGTGTATATATACGGTATACATACTGTGTAT ATATACGGTATACATACTGTGTATATATACGGTATACATACATACAGTAT ACATACATACAGTATACATACATACAGTATACATGCTGTATACAGTATAC ATGCTGTACACAGTATACATGCTGTACACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NHLRC4_chr16_562005_574495	571108	T T	TGTGTGTG others(499): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGT GTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGT GTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGTCTGGCTAGCCT GGTGCCCGTGTGTGTGTGTATGTGTGTGTGTGTGTGTCTGGCTAGCCTGG CGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTATGTGTCTGGC TAGCCTGGCTCCCGTGGCTAGCCTGGTGCCTGTGTGTGTGTGTGTGTATG TGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTG TGTGGGGGGGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTG TCTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTG GCTAGCCTGGCGCCCGTGTGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCT GGCACCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	350	0.0029	506	c.26 others(517): Show c.2689_*2690insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTCTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGT CTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGT CTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTGTGTGTGT GTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGT ATGTATGTGTCTGGCTAGCCTGGCTCCCGTGGCTAGCCTGGTGCCTGTGT GTGTGTGTGTGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGT GCCCGTGTGTGTGTGTGTGGGGGGGGGCTAGCCTTGTGTGTGTGTGTCTG GCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCT GTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTGTGTGTGT GTGTCTGGCTAGCCTGGCACCC	NHLRC4	ENSG00000257108.2	transcript	ENST00000424439.3	protein_coding		1614		chr16	TogoVar
NMRK2_chr19_3928069_3947416	3937900	C C	CGCTCCCC others(499): Show CGCTCCCCGTCCACTGTTCCCCCGGGGTCCACCCTCCTGCAATACCCGCT CCCCGTCCACTGTCCCCCCGGGGTCCACCCTCCTGCAATGCCCGCTCCCC CTCCACTGTCCCCCCGGGGTCTGCCCTCCTGCAATACCTGCTCCCCGTCC ACTGTCCCCCCGGGGTCCACCCTCCTGCAATACCTGCTCCCCGTCCACTG TTCCCCCGGGGTCCGCCCTCCTGCAATACCCGCTCCCCGTCCACTGTCCC CCCGGGGTCCACCCTCCTGCAATGCCCGCTCCCCGTCCACTGTTCCCCCG GGGTCCACCCTCCTGCAATACCCGCTCCCCGTCCACTGTCCCCCCGGGGT CCACCCTCCTGCAATGCCCGCTCCCCCTCCACTGTCCCCCCGGGGTCTGC CCTCCTGCAATACCTGCTCCCCGTCCACTGTCCCCCCGGGGTCCACCCTC CTGCAATACCTGCTCCCCGTCCACTGTTCCCCTGGGGTCCGCCCTCCTGC AATACCT	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	368	0.0027	506	c.167 others(521): Show c.167-498_167-497insCGGGGTCCGCCCTCCTGCAATACCCGCTCC CCGTCCACTGTCCCCCCGGGGTCCACCCTCCTGCAATGCCCGCTCCCCGT CCACTGTTCCCCCGGGGTCCACCCTCCTGCAATACCCGCTCCCCGTCCAC TGTCCCCCCGGGGTCCACCCTCCTGCAATGCCCGCTCCCCCTCCACTGTC CCCCCGGGGTCTGCCCTCCTGCAATACCTGCTCCCCGTCCACTGTCCCCC CGGGGTCCACCCTCCTGCAATACCTGCTCCCCGTCCACTGTTCCCCTGGG GTCCGCCCTCCTGCAATACCTGCTCCCCGTCCACTGTTCCCCCGGGGTCC ACCCTCCTGCAATACCCGCTCCCCGTCCACTGTCCCCCCGGGGTCCACCC TCCTGCAATGCCCGCTCCCCCTCCACTGTCCCCCCGGGGTCTGCCCTCCT GCAATACCTGCTCCCCGTCCACTGTCCCCCCGGGGTCCACCCTCCTGCAA TACCTGCTCCCCGTCCACTGTTCCCC	NMRK2	ENSG00000077009.14	transcript	ENST00000168977.7	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
NOTCH1_chr9_136489433_136551048	136535833	A A	AGGGGGGA others(499): Show AGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGAGTGCAGGGTGGGTG GAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGG TGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGGGTGCAGGGTGG GTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGT GGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGT GGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGT GGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGT GGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGT GGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGG GTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGG GTGGGTG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	285	0.0035	506	c.140 others(523): Show c.140+8190_140+8191insCACCCACCCTGCACCCATTGCCCCTGGG AGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCCCCTGGG AGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTG GGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCTG GGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCTG GGAGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCCCCTG GGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCTG GGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCC GGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCC CTGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACTCATTGC CCCGGGAGGGATCCTGAGTGCTCCCCCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NT5DC3_chr12_103767310_103846234	103768604	G G	GGGGAGGG others(499): Show GGGGAGGGAGGGGGAGAGGGGGGGACAGGGGAGGGGAGGGAGAGGGAGGG GTAGGGGGAGAGGGGGGACAGAGAGGGAGGGGGAGGGGGGAGGGAGAGGG ACAGGGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGGGACAGGGAGAGGG AGAGAGAGGGAGGGAGAGAGGGAGAGGGAGGGGAGGGGGAGAGGGGGGAG AGAGAGGGAGGGGGCGGGAGGGGGAGGGAGAGGGACAGGGAGAGGGAGGG AGAGGGAGGGAGAGTGGAGGGAGAGGGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGGGAGAGGGAGAGGGAGGGAGGGGGGGAGGGAGAGAGATGGGGG AGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGG ACAGGGGGAGGGAGAAGGAGAGGGAGAGGGGGAGGGAGAGGGAGAGAGAG GGAGAGGGAGAGAGAGGGAAAGGGAGTGAGAGAGAGAGGGAGAGAGAGGG AGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0030 a0001c0001t0039g0030	1	220	0.0045	506	c.92 others(517): Show c.9224_*9225insTCTCTCTCCCTCTCTCTCCCTCTCTCTCTCACTC CCTTTCCCTCTCTCTCCCTCTCCCTCTCTCTCCCTCTCCCTCCCCCTCTC CCTCTCCTTCTCCCTCCCCCTGTCCCTCTCCCTCCCCCATCCCTCTCCCT CCCCCATCCCTCTCCCTCCCCCTCCCCCATCTCTCTCCCTCCCCCCCTCC CTCCCTCTCCCTCTCCCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCCCT CTCCCTCCACTCTCCCTCCCTCTCCCTCCCTCTCCCTGTCCCTCTCCCTC CCCCTCCCGCCCCCTCCCTCTCTCTCCCCCCTCTCCCCCTCCCCTCCCTC TCCCTCTCTCCCTCCCTCTCTCTCCCTCTCCCTGTCCCTCTCCCTCCCTC TCTCTCCCTCTCCCTGTCCCTGTCCCTCTCCCTCCCCCCTCCCCCTCCCT CTCTGTCCCCCCTCTCCCCCTACCCCTCCCTCTCCCTCCCCTCCCCTGTC CCCCCCTCTCCCCCTCCCTCCC	NT5DC3	ENSG00000111696.12	transcript	ENST00000392876.8	protein_coding		3705		chr12	TogoVar
OPCML_chr11_132409981_133537501	133437685	C C	CCCTCTCA others(499): Show CCCTCTCAACCCCGCTCACCTCTCCCCTCTCAACCCCGCTCACCTCTCCC CTTTGCAACCCCTCTCACCTCTCCCCTCTCAACCCCTCTCACCTCTCCCC TCTCAACCCCGCTCACCTCTCCCCTCTGCAACCCCTCTCACCTCTCCCCT CAACCCCGCTCACCTCTCCCCTCTGCAACCCCTCTCACCTCTCCCCTCTC AACCCCTCTCACCTCTCCCCTCTCAACCCCTCTCACGTCTCCCCTCTCAA CCCCTCTCACCTCTCCCCTCTAAACCCCGCTCACCTCTCCCCTCTGCAAC CCCGCTCACCTCTCCCCTCTCAACCCCGCTCACCTCTCCCCTCTCAACCC CGCTCACCTCTCCCCTCTCAACCCCGCTCACCTCTCCCCTTTGCAACCCC TCTCACCTCTCCCCTCTCAACCCCTCTCACCTCTCCCCTCAACCCCGCTC ACCTCTCCCCTCTGCAACCCCTCTCACCTCTCCCCTCTCAACCCCTCTCA CCTCTCA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0066 a0001c0001t0010g0066	1	59	0.0169	506	c.61+ others(523): Show c.61+94578_61+94579insTGAGAGGTGAGAGGGGTTGAGAGGGGAG AGGTGAGAGGGGTTGCAGAGGGGAGAGGTGAGCGGGGTTGAGGGGAGAGG TGAGAGGGGTTGAGAGGGGAGAGGTGAGAGGGGTTGCAAAGGGGAGAGGT GAGCGGGGTTGAGAGGGGAGAGGTGAGCGGGGTTGAGAGGGGAGAGGTGA GCGGGGTTGAGAGGGGAGAGGTGAGCGGGGTTGCAGAGGGGAGAGGTGAG CGGGGTTTAGAGGGGAGAGGTGAGAGGGGTTGAGAGGGGAGACGTGAGAG GGGTTGAGAGGGGAGAGGTGAGAGGGGTTGAGAGGGGAGAGGTGAGAGGG GTTGCAGAGGGGAGAGGTGAGCGGGGTTGAGGGGAGAGGTGAGAGGGGTT GCAGAGGGGAGAGGTGAGCGGGGTTGAGAGGGGAGAGGTGAGAGGGGTTG AGAGGGGAGAGGTGAGAGGGGTTGCAAAGGGGAGAGGTGAGCGGGGTTGA GAGGGGAGAGGTGAGCGGGGTTGAGAGG	OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7			chr11	TogoVar
OPCML_chr11_132409981_133537501	133437685	C C	CCCTCTCA others(499): Show CCCTCTCAACCCCGCTCACCTCTCCCCTCTCAACCCCGCTGACCTCTCCC CTTTGCAACCCCTCTCACCTCTCCCCTCTCAACCCCTCTCACCTCTCCCC TCTCAACCCCGCTCACCTCTCCCCTCTGCAACCCCTCTCACCTCTCCCCT CAACCCCGCTCACCTCTCCCCTCTGCAACCCCTCTCACCTCTCCCCTCTC AACCCCTCTCACCTCTCCCCTCTCAACCCCTCTCACGTCTCCCCTCTCAA CCCCTCTCACCTCTCCCCTCTAAACCCCGCTCACCTCTCCCCTCTGCAAC CCCGCTCACCTCTCCCCTCTCAACCCCGCTCACCTCTCCCCTCTCAACCC CGCTCACCTCTCCCCTCTCAACCCCGCTCACCTCTCCCCTTTGCAACCCC TCTCACCTCTCCCCTCTCAACCCCTCTCACCTCTCCCCTCAACCCCGCTC ACCTCTCCCCTCTGCAACCCCTCTCACCTCTCCCCTCTCAACCCCTCTCA CCTCTCA	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp2 HG01258.hp2 others(5): Show HG01071.hp1 HG01071.hp2 HG01258.hp2 HG01516.hp1 HG02145.hp2 HG02965.hp1 HG06807.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0001c0001t0018 a0001c0001t0025 a0001c0001t0032	a0001c0001t0002g0022 a0001c0001t0002g0042 a0001c0001t0003g0024 others(5): Show a0001c0001t0002g0022 a0001c0001t0002g0042 a0001c0001t0003g0024 a0001c0001t0004g0018 a0001c0001t0010g0061 a0001c0001t0018g0008 a0001c0001t0025g0054 a0001c0001t0032g0065	8	66	0.1212	506	c.61+ others(523): Show c.61+94578_61+94579insTGAGAGGTGAGAGGGGTTGAGAGGGGAG AGGTGAGAGGGGTTGCAGAGGGGAGAGGTGAGCGGGGTTGAGGGGAGAGG TGAGAGGGGTTGAGAGGGGAGAGGTGAGAGGGGTTGCAAAGGGGAGAGGT GAGCGGGGTTGAGAGGGGAGAGGTGAGCGGGGTTGAGAGGGGAGAGGTGA GCGGGGTTGAGAGGGGAGAGGTGAGCGGGGTTGCAGAGGGGAGAGGTGAG CGGGGTTTAGAGGGGAGAGGTGAGAGGGGTTGAGAGGGGAGACGTGAGAG GGGTTGAGAGGGGAGAGGTGAGAGGGGTTGAGAGGGGAGAGGTGAGAGGG GTTGCAGAGGGGAGAGGTGAGCGGGGTTGAGGGGAGAGGTGAGAGGGGTT GCAGAGGGGAGAGGTGAGCGGGGTTGAGAGGGGAGAGGTGAGAGGGGTTG AGAGGGGAGAGGTGAGAGGGGTTGCAAAGGGGAGAGGTCAGCGGGGTTGA GAGGGGAGAGGTGAGCGGGGTTGAGAGG	OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7			chr11	TogoVar
OSGIN1_chr16_83948240_83971332	83950693	A A	ACACGCAC others(499): Show ACACGCACACATGAGCACATGTGCACACATGCACATACTGGCACACGTAC ACACACATGCACACATGAGCACATGTGCACACATGCACATACATACTGGC ACACGTACACACATGCACACATGAGCACATGTGCACACATGCACATACAT ACTGGCACACACGTACACACATGCACACGAGCACATGTGCACACATGCAC ATACATACTGGCACACACGTACACACACATGCACACATGAGCACATGTGC ACACATGCACATACATACTGGCACACACGTACATGCACACATGAGCACAT GTGCACACATGCACGTACATACTGGCACACGTACACACACGCACACATGA GCACATGTGCACACATGCACATACATACTGGCACACGTACACGCACACAT GAGCACATGTGCACACATGCACATACACACTGGCACACACGTACACACAC ACGCACACATGAGCACATGTGCACACATGCACACACATGCACACATGAGC ACATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02257.hp2 HG02559.hp2 others(5): Show HG02055.hp2 HG02257.hp2 HG02559.hp2 HG02970.hp2 HG03098.hp2 HG03486.hp1 HG03516.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0001t0003 a0001c0002t0003 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0002t0003 a0001c0003t0003	a0001c0001t0002g0034 a0001c0001t0003g0184 a0001c0002t0003g0174 others(4): Show a0001c0001t0002g0034 a0001c0001t0003g0184 a0001c0002t0003g0174 a0001c0002t0003g0238 a0001c0003t0003g0178 a0001c0003t0003g0181 a0001c0003t0003g0212	8	344	0.0233	506	c.-27 others(517): Show c.-2710_-2709insCACGCACACATGAGCACATGTGCACACATGCACA TACTGGCACACGTACACACACATGCACACATGAGCACATGTGCACACATG CACATACATACTGGCACACGTACACACATGCACACATGAGCACATGTGCA CACATGCACATACATACTGGCACACACGTACACACATGCACACGAGCACA TGTGCACACATGCACATACATACTGGCACACACGTACACACACATGCACA CATGAGCACATGTGCACACATGCACATACATACTGGCACACACGTACATG CACACATGAGCACATGTGCACACATGCACGTACATACTGGCACACGTACA CACACGCACACATGAGCACATGTGCACACATGCACATACATACTGGCACA CGTACACGCACACATGAGCACATGTGCACACATGCACATACACACTGGCA CACACGTACACACACACGCACACATGAGCACATGTGCACACATGCACACA CATGCACACATGAGCACATGTG	OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding		2546		chr16	TogoVar
OSGIN1_chr16_83948240_83971332	83950693	A A	ACACGCAC others(499): Show ACACGCACACATGAGCACATGTGCACACATGCACATACTGGCACACGTAC ACACACATGCACACATGAGCACATGTGCACACATGCACATACATACTGGC ACACGTACACACATGCACACATGCGCACATGTGCACACATGCACATACAT ACTGGCACACACGTACACACATGCACACGAGCACATGTGCACACATGCAC ATACATACTGGCACACACGTACACACACATGCACACATGAGCACATGTGC ACACATGCACATACATACTGGCACACACGTACATGCACACATGAGCACAT GTGCACACATGCACGTACATACTGGCACACGTACACACACGCACACATGA GCACATGTGCACACATGCACATACATACTGGCACACGTACACGCACACAT GAGCACATGTGCACACATGCACATACACACTGGCACACACGTACACACAC ACGCACACATGAGCACATGTGCACACATGCACACACATGCACACATGAGC ACATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG02965.hp1 HG03225.hp1 HG02809.hp2 HG02965.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0003 a0001c0002t0003 a0001c0003t0003 a0001c0001t0003 a0001c0002t0003 a0001c0003t0003	a0001c0001t0003g0177 a0001c0002t0003g0187 a0001c0003t0003g0176 a0001c0001t0003g0177 a0001c0002t0003g0187 a0001c0003t0003g0176	3	339	0.0088	506	c.-27 others(517): Show c.-2710_-2709insCACGCACACATGAGCACATGTGCACACATGCACA TACTGGCACACGTACACACACATGCACACATGAGCACATGTGCACACATG CACATACATACTGGCACACGTACACACATGCACACATGCGCACATGTGCA CACATGCACATACATACTGGCACACACGTACACACATGCACACGAGCACA TGTGCACACATGCACATACATACTGGCACACACGTACACACACATGCACA CATGAGCACATGTGCACACATGCACATACATACTGGCACACACGTACATG CACACATGAGCACATGTGCACACATGCACGTACATACTGGCACACGTACA CACACGCACACATGAGCACATGTGCACACATGCACATACATACTGGCACA CGTACACGCACACATGAGCACATGTGCACACATGCACATACACACTGGCA CACACGTACACACACACGCACACATGAGCACATGTGCACACATGCACACA CATGCACACATGAGCACATGTG	OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding		2546		chr16	TogoVar
OSGIN1_chr16_83948240_83971332	83951962	C C	CCCTCCCT others(499): Show CCCTCCCTCTTCCCTTCCTCCTTCCCTCCCTCCCTCCTTCCCTCCCTCCC TGCCTCCCTCCCCCTCCCTCCTTCCCTCCCTGCCTTCCTCCCCCTTTCCC TCCCTCCCTCCTTCCCTCCTTCCTCCCTTCCTCCTTCCCTCCCTCCTCCC TTCCTCCTTCCCTCCCTCCTCCCTTCCTCCTTCCCTCCCTCCTCCCTTCC TCCTTCCCTCCCTCCTCCTTTCCTCCTCCCCTCCATCCCTTCCTCCTTCC CTCCCTCCCTCCTTCCCTCCCTGCCTTCCACCCTCCTTCCCTCCCTCCTC CCTTCCTCCCTCCTTCCCTCCGTCCTCCCTTCCTCCCTCCCTCCCTACTT CCCTCCCTCCCTGCCTCCCTCCTTCCCTCCCTCCCTGCCTCCCTCCTTTC CTCCCTCCCTCCTTCCCTCCCTCCCTGCCTTCCTCCCTCCTTCCTTCCCT CCCTCCCTGCCTCCCTCCTTCCCTCCCTCCCTGCCTCCCTCCTTCCCTCC CTCCCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG03579.hp2 HG00323.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0203 a0001c0002t0001g0133 a0001c0001t0002g0203 a0001c0002t0001g0133	2	62	0.0323	506	c.-14 others(517): Show c.-1441_-1440insCCTCCCTCTTCCCTTCCTCCTTCCCTCCCTCCCT CCTTCCCTCCCTCCCTGCCTCCCTCCCCCTCCCTCCTTCCCTCCCTGCCT TCCTCCCCCTTTCCCTCCCTCCCTCCTTCCCTCCTTCCTCCCTTCCTCCT TCCCTCCCTCCTCCCTTCCTCCTTCCCTCCCTCCTCCCTTCCTCCTTCCC TCCCTCCTCCCTTCCTCCTTCCCTCCCTCCTCCTTTCCTCCTCCCCTCCA TCCCTTCCTCCTTCCCTCCCTCCCTCCTTCCCTCCCTGCCTTCCACCCTC CTTCCCTCCCTCCTCCCTTCCTCCCTCCTTCCCTCCGTCCTCCCTTCCTC CCTCCCTCCCTACTTCCCTCCCTCCCTGCCTCCCTCCTTCCCTCCCTCCC TGCCTCCCTCCTTTCCTCCCTCCCTCCTTCCCTCCCTCCCTGCCTTCCTC CCTCCTTCCTTCCCTCCCTCCCTGCCTCCCTCCTTCCCTCCCTCCCTGCC TCCCTCCTTCCCTCCCTCCCTG	OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding		1277		chr16	TogoVar
PARP10_chr8_143972158_143991460	143981908	G G	GTGATGGT others(499): Show GTGATGGTGGTGATGACAGTGAGTGGTGAGGGTCATGGTGATGGTGATGA TGATGAGTGGGGATGATGGTGGTGATGGTGACTGTTGTGATGGTGATGGT GGTGATGGTGATGGTGGTGGTGATGACAGTGAGTGGTGAGGGTCATGGTG ATGGTGATGATGATGATGGGGATGATTATGGTGATGGTGGTGGTGATGGT GATTGTTGTGATGGTGATGGTGGTGATGACAGTGAGTGGTGAGGGTCATG GTGATGGTGATGGTGATGATGATGAGTGGGGATGATTATGGTGATGGTGG TGGTGATGGTGACTGTTGTAATGGTGATGGTGGTGATGGTGATGATGGTG GTGACGACAGTGAGTGGTGAAGGTGATGGTGATGGTGGTGATGACAGTGA GTGGTGAGGGTCATGGTGATGGTGATGATGATGAGTGGGGATGGTGGTGA TGGTGACTGTTGTGATGGTGATGGTGGTGATGGTGATGGTGGTGGTGACG ACAGTGA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0003 a0007c0009t0003	a0007c0009t0003g0192 a0007c0009t0003g0192	1	378	0.0026	506	c.255 others(525): Show c.2556+1023_2556+1024insTCACTGTCGTCACCACCACCATCACC ATCACCACCATCACCATCACAACAGTCACCATCACCACCATCCCCACTCA TCATCATCACCATCACCATGACCCTCACCACTCACTGTCATCACCACCAT CACCATCACCTTCACCACTCACTGTCGTCACCACCATCATCACCATCACC ACCATCACCATTACAACAGTCACCATCACCACCACCATCACCATAATCAT CCCCACTCATCATCATCACCATCACCATCACCATGACCCTCACCACTCAC TGTCATCACCACCATCACCATCACAACAATCACCATCACCACCACCATCA CCATAATCATCCCCATCATCATCATCACCATCACCATGACCCTCACCACT CACTGTCATCACCACCACCATCACCATCACCACCATCACCATCACAACAG TCACCATCACCACCATCATCCCCACTCATCATCATCACCATCACCATGAC CCTCACCACTCACTGTCATCACCACCATCA	PARP10	ENSG00000178685.14	transcript	ENST00000313028.12	protein_coding	9/10			chr8	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(499): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTAATACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTAATACATATATAACATATATGTATTACATATA TGTAATACATATGTATTACATATATGTAATACATATATAACATATATGTA TTACATATATGTAATACATATATAACATGTATTACATATATGTAATACAT ATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0007 a0001c0002t0001g0007	1	122	0.0082	506	c.70 others(517): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTAATACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTAATACATATATAACATA TATGTATTACATATATGTAATACATATGTATTACATATATGTAATACATA TATAACATATATGTATTACATATATGTAATACATATATAACATGTATTAC ATATATGTAATACATATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PDCD6_chr5_266646_319974	318049	C C	CCCTCCCC others(499): Show CCCTCCCCCCTCACCCTGCACCTCCCTTGCCCTGCACCTCCTCCCTCCCT CTCCCCCTCACCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCC ACTTTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCCCCCTCA CCTCCCCCCTCACCCACCACCTCCCGCCCTCACCCTCCACCTCCCCCCGC ACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCCATCTTTTACCTCC CCCCTCACCCTGCACCTCCCTCTCGCCCTGCACCTCCTCCCTCCCTCTCC CCCTCATCCTGCACCTCCCCCCTCCACGCCCCCTCACCTCCCCCCACCTT CCACCTCCCCCCTCCACCTCCCCCCTCACTTCCCCCCCAGCCTCCACCTC CCCCCTCACCCTCCACCTCCCTTCCGCACCCTGCACCTCCCGCCCTCACC CTGCACCTCCCCCCATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAA CCCTGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0106 a0001c0002t0001g0106	1	248	0.0040	506	c.35 others(517): Show c.3534_*3535insCCTCCCCCCTCACCCTGCACCTCCCTTGCCCTGC ACCTCCTCCCTCCCTCTCCCCCTCACCCTGCACCTCCCCCCTCCACTCCC CCTCACCTCCCCCCCACTTTCCACCTCCCCCCTCACCTCCTCCCCAGCCT CCACCTCCCCCCTCACCTCCCCCCTCACCCACCACCTCCCGCCCTCACCC TCCACCTCCCCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCC CCATCTTTTACCTCCCCCCTCACCCTGCACCTCCCTCTCGCCCTGCACCT CCTCCCTCCCTCTCCCCCTCATCCTGCACCTCCCCCCTCCACGCCCCCTC ACCTCCCCCCACCTTCCACCTCCCCCCTCCACCTCCCCCCTCACTTCCCC CCCAGCCTCCACCTCCCCCCTCACCCTCCACCTCCCTTCCGCACCCTGCA CCTCCCGCCCTCACCCTGCACCTCCCCCCATCCTTTACCTCCCCCCACCC TCCATCTGCCCCCAACCCTGCA	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3076		chr5	TogoVar
PDE10A_chr6_165322289_165668241	165619415	T T	TAGCCTAG others(499): Show TAGCCTAGTGTAGTGTAGGCTAGGGTAGGCTAGTGTAGGCTAGTGTAGTG TAGTAGTGTAGTCTAGTGTAGTGTAGTCTAGTGTAGTCTAGTATAGTGTA GTGTAGTCTAGTGTACTGTAGTGTAGTATAGTGTAGTCTAGTGTGGTGTG GTGTGGTGTAGTGTAGTCTAGTGTAGTCTAGTGTACTGTAGTGTAGTGCA GTGTAGTCTAGTGTAGTACAGTCTAGTGTAGTCTAGTATAGTGTAGTCCA GTGTAGTGTAGTATAGTCTAGTGTACTGTAGTGTAGTGTAGTGTAGTCTA GTGTAGTCTAGTGTACTGTAGTGTAGTGTAGTGTAGTCTAGTGTAGTGTA GTGTAGTCTAGTGTAGTCTAGTGTACTGTAGTGTAGTGTAGTGTAGTCTA GTGTAGTGTAGTGTAGTGTACTGTAGTGTAATGTAGTCTAGTCTAGTGTA GTCTAGTGTACTGTAGTGTAGTGCATTGGTCTAGTGCAGTGTAGTCTAGT GTAGTAC	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	216	0.0046	506	c.865 others(525): Show c.865+42531_865+42532insGTACTACACTAGACTACACTGCACTA GACCAATGCACTACACTACAGTACACTAGACTACACTAGACTAGACTACA TTACACTACAGTACACTACACTACACTACACTAGACTACACTACACTACA CTACAGTACACTAGACTACACTAGACTACACTACACTACACTAGACTACA CTACACTACACTACAGTACACTAGACTACACTAGACTACACTACACTACA CTACAGTACACTAGACTATACTACACTACACTGGACTACACTATACTAGA CTACACTAGACTGTACTACACTAGACTACACTGCACTACACTACAGTACA CTAGACTACACTAGACTACACTACACCACACCACACCACACTAGACTACA CTATACTACACTACAGTACACTAGACTACACTACACTATACTAGACTACA CTAGACTACACTACACTAGACTACACTACTACACTACACTAGCCTACACT AGCCTACCCTAGCCTACACTACACTAGGCT	PDE10A	ENSG00000112541.19	transcript	ENST00000539869.4	protein_coding	1/21			chr6	TogoVar
PFKP_chr10_3062548_3141802	3085316	T T	TCCAGCAC others(499): Show TCCAGCACAGTCCCCCACTCCACTCTCCAGCACAGTCCCCCAAACCCTCC CCAGCACAGTCCCCCAACCCCTCCCCAGCACAGTCCCCCAACCCCTCCCC AGCACAGTCCCCCAACCCCTCCCCAGCAGTCCCCCACTCCACTCTCCAGC ACAGTCCCCCACTCCCTCCCCAGCACAGTCCCCCACTCCCTCCCCAGCAC AGTCCCCCACCCCTTCCCCAGCACAGTCCCCCACCCCTTCCCCAGCACAG TCCCCCACCCCTTCCCCAGCACAGTCCCCCACCCCTTCCCCAGCACAGTC CCCCACCCCTTCCCCAGCACAGTCCCCCACCCCTTCCCCAGCACAGTCCC CCACCCCTTCCCCAGCACAGTCCCCCACTCCACTCTCCAGCACAGTCCCC CACTCCACTCTCCAGCACAGTCCCCCAAACCCTCCCCAGCACAGTCCCCC ACCCCCTCCCCAGCACAGTCCCCCACCCCCTCCCCAGCACAGTCCCCCAC CCCCTCC	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02083.hp2 NA18966.hp1 others(3): Show HG02015.hp2 HG02083.hp2 NA18966.hp1 NA18967.hp1 NA19000.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0002 a0001c0001t0008 a0001c0002t0002 others(2): Show a0001c0001t0002 a0001c0001t0008 a0001c0002t0002 a0001c0002t0006 a0001c0005t0003	a0001c0001t0002g0345 a0001c0001t0008g0342 a0001c0002t0002g0347 others(3): Show a0001c0001t0002g0345 a0001c0001t0008g0342 a0001c0002t0002g0347 a0001c0002t0002g0348 a0001c0002t0006g0350 a0001c0005t0003g0118	6	280	0.0214	506	c.186 others(523): Show c.186+2896_186+2897insAACCCTCCCCAGCACAGTCCCCCAACCC CTCCCCAGCACAGTCCCCCAACCCCTCCCCAGCACAGTCCCCCAACCCCT CCCCAGCAGTCCCCCACTCCACTCTCCAGCACAGTCCCCCACTCCCTCCC CAGCACAGTCCCCCACTCCCTCCCCAGCACAGTCCCCCACCCCTTCCCCA GCACAGTCCCCCACCCCTTCCCCAGCACAGTCCCCCACCCCTTCCCCAGC ACAGTCCCCCACCCCTTCCCCAGCACAGTCCCCCACCCCTTCCCCAGCAC AGTCCCCCACCCCTTCCCCAGCACAGTCCCCCACCCCTTCCCCAGCACAG TCCCCCACTCCACTCTCCAGCACAGTCCCCCACTCCACTCTCCAGCACAG TCCCCCAAACCCTCCCCAGCACAGTCCCCCACCCCCTCCCCAGCACAGTC CCCCACCCCCTCCCCAGCACAGTCCCCCACCCCCTCCCCAGCACAGTCCC CCACTCCACTCTCCAGCACAGTCCCCCA	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PGAP6_chr16_365788_386978	378351	G G	GACTGCCA others(499): Show GACTGCCATCGCCACCCTGACTGCCATCGCCACCCGCACTGCCATCCCCA CCCGCACTGCCATCGCCACCCGCACTGCCATCGCCACCCGCACTGCCATC GCCACCCTGACTGCCATCGCCACCCACACTGCCATCGCCACCCCGCACTG CCATCGCCACCCCGCACTGCCATCCCCACCCGCACTGACATCGCCACCCG CACTGCCATCGCCACCCGCACTGACATCGCCACCCGCACTGCCATCGCCA CCCGCACTGCCATCGCCACCCGCACTGCCATCGCCACTCTGACTGCCATC CCCACCCACACTGCCATCCCCACCCGCACTGCCATCGCCACCCGCACTGC CATCGCCACCCGCACTGCCATCCCCACCCGCACTGCCATCGCCACCCTGA CTGCCATCGCCACCCACAATGCCATCCCCACCCGCACTGCCATCGCCACC CACAATGCCATCCCCACCCGCACTGCCATCGCCACCCTGACTGCCATCGC CACCCAC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0145 a0002c0002t0003g0145	1	298	0.0034	506	c.122 others(521): Show c.122-504_122-503insGTGGGTGGCGATGGCAGTCAGGGTGGCGAT GGCAGTGCGGGTGGGGATGGCATTGTGGGTGGCGATGGCAGTGCGGGTGG GGATGGCATTGTGGGTGGCGATGGCAGTCAGGGTGGCGATGGCAGTGCGG GTGGGGATGGCAGTGCGGGTGGCGATGGCAGTGCGGGTGGCGATGGCAGT GCGGGTGGGGATGGCAGTGTGGGTGGGGATGGCAGTCAGAGTGGCGATGG CAGTGCGGGTGGCGATGGCAGTGCGGGTGGCGATGGCAGTGCGGGTGGCG ATGTCAGTGCGGGTGGCGATGGCAGTGCGGGTGGCGATGTCAGTGCGGGT GGGGATGGCAGTGCGGGGTGGCGATGGCAGTGCGGGGTGGCGATGGCAGT GTGGGTGGCGATGGCAGTCAGGGTGGCGATGGCAGTGCGGGTGGCGATGG CAGTGCGGGTGGCGATGGCAGTGCGGGTGGGGATGGCAGTGCGGGTGGCG ATGGCAGTCAGGGTGGCGATGGCAGT	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding	1/12			chr16	TogoVar
PIAS4_chr19_4002736_4044386	4011658	T T	TGGTGTGG others(499): Show TGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTTTGGTGTGGAGGTGTGT TTGGTGTGGAGCTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTG GGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGT GGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTG GGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGT GGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGAGGGGTGTGGAGGTGTG TTTGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGAGGGGTGTGGAGGTGT GTGGGGTGTGGAGGTGTGAGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTG TGAGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGT GTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGG TGTGTGG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0248 a0001c0004t0003g0248	1	292	0.0034	506	c.28- others(521): Show c.28-1251_28-1250insTGGGGTGTGGAGGTGTGTTTGGTGTGGAGG TGTGTTTGGTGTGGAGCTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGT GTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGG TGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAG GTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGG TGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGAGGGGTGTGGAG GTGTGTTTGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGAGGGGTGTGGA GGTGTGTGGGGTGTGGAGGTGTGAGGGGTGTGGAGGTGTGTGGGGTGTGG AGGTGTGAGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTG GAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGT GGAGGTGTGTGGGGTGTGGAGGTGTG	PIAS4	ENSG00000105229.7	transcript	ENST00000262971.3	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
PIGQ_chr16_564968_589109	571108	T T	TGTGTGTG others(499): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGT GTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGT GTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGTCTGGCTAGCCT GGTGCCCGTGTGTGTGTGTATGTGTGTGTGTGTGTGTCTGGCTAGCCTGG CGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTATGTGTCTGGC TAGCCTGGCTCCCGTGGCTAGCCTGGTGCCTGTGTGTGTGTGTGTGTATG TGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTG TGTGGGGGGGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTG TCTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTG GCTAGCCTGGCGCCCGTGTGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCT GGCACCC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0231 a0002c0001t0001g0231	1	320	0.0031	506	c.-10 others(523): Show c.-10+1012_-10+1013insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGT GTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGT GTGTGTCTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTGT GTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGT GTGTGTATGTATGTGTCTGGCTAGCCTGGCTCCCGTGGCTAGCCTGGTGC CTGTGTGTGTGTGTGTGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAG CCTGGTGCCCGTGTGTGTGTGTGTGGGGGGGGGCTAGCCTTGTGTGTGTG TGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGC TAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTGT GTGTGTGTGTCTGGCTAGCCTGGCACCC	PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding	1/10			chr16	TogoVar
PIGR_chr1_206923522_206951466	206924299	A A	AGTGTGTG others(499): Show AGTGTGTGTGCTCTGTCTAGTGTGTGTGGTGTGTGGTTATGTGTGTGTGA TTGTGTGTGTGATGTGTGTCCATGAGTGTGTGTGTGCTCTGTGGAGTGTG TGAATGTGTGGTGTGTGGCTATGAGTGTGTGTGAATGTGTGGTGTGTGGC TATGTGTGTGTGCTATGTGTTGTGTGTGGTATGTAGTTATGAGTGTGTGT CACTGCGTGGTGTGTGGCTATGAGTGTGTGTGTGCGCACTCTATGCTCTG TCTAGTGTGTGTGTGGTTGAGTGTGTGAGTGTGTGGTGTGTAGTTATGAG TGTGTGTGTTCTCTGTCTAGTGTGTGTGTGGTTATGTGTGTGTGATTGTG TGTGTGGTGTGTGTCCATGAGTGTGTGTGTGCTCTGTAGAGTGTGTGTGT GGCGTGTGGCTATGAGTGTGTGTGTGCACTGTGGAGTGTGTGTGTGGTGT GTGGCTATGAGTGTGTGTGTGCTCTGTGGAGTGTGTGTGTGGTGTGTGGC TATGAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0094 a0002c0002t0002g0094	1	398	0.0025	506	c.60 others(517): Show c.6018_*6019insACTCATAGCCACACACCACACACACACTCCACAG AGCACACACACACTCATAGCCACACACCACACACACACTCCACAGTGCAC ACACACACTCATAGCCACACGCCACACACACACTCTACAGAGCACACACA CACTCATGGACACACACCACACACACAATCACACACACATAACCACACAC ACACTAGACAGAGAACACACACACTCATAACTACACACCACACACTCACA CACTCAACCACACACACACTAGACAGAGCATAGAGTGCGCACACACACAC TCATAGCCACACACCACGCAGTGACACACACTCATAACTACATACCACAC ACAACACATAGCACACACACATAGCCACACACCACACATTCACACACACT CATAGCCACACACCACACATTCACACACTCCACAGAGCACACACACACTC ATGGACACACATCACACACACAATCACACACACATAACCACACACCACAC ACACTAGACAGAGCACACACAC	PIGR	ENSG00000162896.6	transcript	ENST00000356495.5	protein_coding		4222		chr1	TogoVar
PIWIL1_chr12_130332887_130377637	130338253	C C	CGGGGTCG others(499): Show CGGGGTCGAGGTCCCAGGTGCGGGGGATGCAGGAGCCAGATGCGGTGGCG AGGTCGCAGGTGCGGGAGATGCAGGAGCCGGGTGCGGGGTCGAGGTCCCA GGTGCGGGGGATGCAGGAGCCGGGTGCGGGGTCGAGGTCCCAGGTGCGGG GGATGCAGGAGCCAGATGCGGTGGCGAGGTCCCAGGTGCGGGAGATGCAG GAGCCGGGTGCGGGGTCGAGGTCCCAGGTGCGGGAGATGCAGGAGCCGGG TGCGGGGGCGAGGTCCCAGGTGCGGGAGATGCAGGAGCCGGGTGCGGGGG CGAGGTCCCAGGTGTGGGAGATGCAGGAGCCGGGTGCGGGGGGCGAGGTC CCAGGTGTGGGAGATGCAGGAGCCGGGTGCGGGGGCGAGGTCCCAGGTGT GGGAGATGCAGGAGCCGGGTGCGGGGGCGAGGTCCCAGGTGCGGGGGATG CAGGAGCCGGGTGCGGGGGCGAGGTCCCAGGTGCGGGGGATGCAGGAGCC GGGTGCG	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0292 a0001c0001t0004g0292	1	423	0.0024	506	c.-13 others(521): Show c.-13+111_-13+112insTCGAGGTCCCAGGTGCGGGGGATGCAGGAG CCAGATGCGGTGGCGAGGTCGCAGGTGCGGGAGATGCAGGAGCCGGGTGC GGGGTCGAGGTCCCAGGTGCGGGGGATGCAGGAGCCGGGTGCGGGGTCGA GGTCCCAGGTGCGGGGGATGCAGGAGCCAGATGCGGTGGCGAGGTCCCAG GTGCGGGAGATGCAGGAGCCGGGTGCGGGGTCGAGGTCCCAGGTGCGGGA GATGCAGGAGCCGGGTGCGGGGGCGAGGTCCCAGGTGCGGGAGATGCAGG AGCCGGGTGCGGGGGCGAGGTCCCAGGTGTGGGAGATGCAGGAGCCGGGT GCGGGGGGCGAGGTCCCAGGTGTGGGAGATGCAGGAGCCGGGTGCGGGGG CGAGGTCCCAGGTGTGGGAGATGCAGGAGCCGGGTGCGGGGGCGAGGTCC CAGGTGCGGGGGATGCAGGAGCCGGGTGCGGGGGCGAGGTCCCAGGTGCG GGGGATGCAGGAGCCGGGTGCGGGGG	PIWIL1	ENSG00000125207.7	transcript	ENST00000245255.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr12	TogoVar
PRPF31_chr19_54110754_54136713	54133829	C C	CTTCCTCC others(499): Show CTTCCTCCCTCTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACC TCCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCC CTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTC CACCTCCCCTCTCTCTCTTCCTCCCTCTCTCCACCTCCCCTCTCTCCCTC CCTCTCTCCACCTCCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTC TCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTC TTCCTCCCTCTCCACCTCCCCTCTCTCCCTCCCTCTCTCCACCTCCCCTG TCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTC TGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCT CCCCTCTCTCCACCTCCCCTCACTCCACCTTCCCTCTCTCCACCTCCCCT CTCTCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0089 a0001c0005t0001g0089	1	73	0.0137	506	c.23 others(517): Show c.2397_*2398insTTCCTCCCTCTCTCCACCTCCCCTCCCTCTGTCC CTCCCTCTCTCCACCTCCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCC CTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCT CTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCTCCACC TCCCCTCTCTCCCTCCCTCTCTCCACCTCCCCTGTCTCCACCTCCCCTCC CTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCA CCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCCCTCCCTC TCTCCACCTCCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTC CACCTCCCCTCTCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTC CCTCCCTCTCCACCTCCCCTCTCTCCACCTCCCCTCACTCCACCTTCCCT CTCTCCACCTCCCCTCTCTCTG	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2117		chr19	TogoVar
PTPN4_chr2_119754922_119989899	119843930	A A	ACCCCCCC others(499): Show ACCCCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCT GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCCG ACATCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCCGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGAT CCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCAGAGGGGCTCCT CACTTCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCAGACG GGGTGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTTCCGGACGG GGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGG CTGACCC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0012 a0001c0001t0012g0012	1	240	0.0042	506	c.139 others(525): Show c.139-18599_139-18598insCCACCTCCCTCCCGGACGGGGTGGCT GGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCTGGGCGGGGGGCCGACATCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCAGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCCGATCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCAGCCGGGCAGAGGCGCC CCTCACCTCCCAGACGGGGTGGCTGGCCGGGCGGAGGGCTGACCCCCCCA CCTCCCTTCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGC TGGCCGGGCGGGGGGGCTGACCCCCCCCCC	PTPN4	ENSG00000088179.9	transcript	ENST00000263708.7	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
PXDN_chr2_1626887_1749515	1720263	G G	GAGAGGGA others(499): Show GAGAGGGAGGGAGGGATGCAGAGAGAGAGGGAGGGAGGGATGTAGAGAGA GAGAGAGGGAGGGAGGGATGCAGAGAGAGAGAGAGGGAGGGAGGGATGCA GAGAGAGAGAGAGGGAGGGAGGGATGCAGAGAGAGAGAGAGAGGGAGGGA GGGATGCAGAGAGAGAGGGAGGGAGGGATGTAGAGAGAGAGAGAGGGAGG GAGGGATGCAGAGAGAGAGAGAGGGAGGGAGGGATGCAGAGAGAGAGAGG GAGGGAGGGATGCAGAGAGAGAGAGAGGGAGGGAGGGATGCAGAGAGAGA GAGAGGGAGGGAGGGATGCAGAGAGAGAGAGAGGGAGGGATGCAGAGAGA GAGAGAGGGAGGGATGCAGAGAGAGAGAGGGAGGGAGGGATGCAGAGAGA GAGGGAGGGAAGAATGCAGAGAGAGAGAGAGGGAGGGAGGGATGCAGAGA GAGAGAGGGAGGGAGGGATGCAGAGAGAGAGAGATGCACAGAGAGAGGGA GGGATGC	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0068 a0001c0001t0009g0068	1	281	0.0036	506	c.200 others(525): Show c.200+23992_200+23993insGCATCCCTCCCTCTCTCTGTGCATCT CTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTCTCTGCATCCCTCCCTCC CTCTCTCTCTCTCTGCATTCTTCCCTCCCTCTCTCTCTGCATCCCTCCCT CCCTCTCTCTCTCTGCATCCCTCCCTCTCTCTCTCTCTGCATCCCTCCCT CTCTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTCTCTCTGCATCCCTCC CTCCCTCTCTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTCTCTGCATCC CTCCCTCCCTCTCTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTCTCTCT ACATCCCTCCCTCCCTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTCTCT CTCTGCATCCCTCCCTCCCTCTCTCTCTCTCTGCATCCCTCCCTCCCTCT CTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTCTCTCTACATCCCTCCCT CCCTCTCTCTCTGCATCCCTCCCTCCCTCT	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
RAB11FIP3_chr16_420649_528011	458567	G G	GTTCAGTG others(499): Show GTTCAGTGATGTTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATG CCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCTCACAGGGCC TGGGGGGCCTTCCTCGGGTTCACTGATGCTCACAGGGCCTGGGGGGCCTT CCTCGGGTTCAGTGATGCTCACAGGGCCTGGGGGGCCTTCCTCAGATTCA CTGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACTGATGCCCAC AGGGCCTGGGGGCCTTCCTCGGGTTCACTGATGCTCACAGGGCCTGGGGG GCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCAG ATTCACTGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACTGATG CTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCC TGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTT CCTCAGA	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0053 a0001c0001t0004g0053	1	263	0.0038	506	c.715 others(523): Show c.715-2833_715-2832insGTGATGTTCACAGGGCCTGGGGGGCCTT CCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCA CCGATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACTGATGCTCAC AGGGCCTGGGGGGCCTTCCTCGGGTTCAGTGATGCTCACAGGGCCTGGGG GGCCTTCCTCAGATTCACTGATGCCCACAGGGCCTGGGGGGCCTTCCTCG GGTTCACTGATGCCCACAGGGCCTGGGGGCCTTCCTCGGGTTCACTGATG CTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCC TGGGGGGCCTTCCTCAGATTCACTGATGCCCACAGGGCCTGGGGGGCCTT CCTCGGGTTCACTGATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCA CCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCAC AGGGCCTGGGGGGCCTTCCTCAGATTCA	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	468030	G G	GTCAGGGA others(499): Show GTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGAGGCCTCAGG GAGGAGGTGCAGGGGCCTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAG GTGCAGGGGCCTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAG GGAAGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGGGCGT CAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGGAAGTCAGGGA GGAGGTGCTGGGGCGTCAGGGAGGAGGTGCAGGGGCCTCAGGGAGGAGGT GCAGGGGCGTCAGGGAGGAGGTGCAGGGAAGTCAGGGAGGAGGTGCAGGG GCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGGAAGTCA GGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGG AGGTGCAGGGACGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGC TGGGACC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00544.hp1 HG00558.hp1 others(31): Show HG00323.hp2 HG00544.hp1 HG00558.hp1 HG00609.hp2 HG00673.hp2 HG01109.hp2 HG01928.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG02083.hp1 HG02135.hp2 HG02145.hp2 HG02273.hp2 HG02622.hp1 HG02622.hp2 HG02886.hp1 NA18612.hp2 NA18939.hp1 NA18943.hp1 NA18946.hp1 NA18951.hp2 NA18954.hp1 NA18966.hp1 NA18967.hp2 NA18971.hp1 NA18984.hp2 NA19000.hp2 NA19004.hp2 NA19007.hp1 NA19011.hp2 NA19012.hp2 NA19082.hp2 NA19240.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0013 a0005c0010	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(13): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0017 a0001c0001t0028 a0001c0001t0041 a0001c0001t0043 a0001c0001t0052 a0001c0001t0056 a0001c0002t0009 a0001c0004t0003 a0001c0013t0053 a0005c0010t0005	a0001c0001t0003g0059 a0001c0001t0003g0180 a0001c0001t0003g0219 others(31): Show a0001c0001t0003g0059 a0001c0001t0003g0180 a0001c0001t0003g0219 a0001c0001t0004g0053 a0001c0001t0004g0054 a0001c0001t0004g0055 a0001c0001t0004g0058 a0001c0001t0004g0066 a0001c0001t0004g0088 a0001c0001t0004g0089 a0001c0001t0004g0090 a0001c0001t0004g0178 a0001c0001t0004g0208 a0001c0001t0005g0065 a0001c0001t0007g0052 a0001c0001t0007g0081 a0001c0001t0008g0062 a0001c0001t0008g0064 a0001c0001t0008g0068 a0001c0001t0011g0179 a0001c0001t0017g0049 a0001c0001t0017g0056 a0001c0001t0017g0060 a0001c0001t0017g0087 a0001c0001t0028g0091 a0001c0001t0041g0078 a0001c0001t0043g0085 a0001c0001t0052g0063 a0001c0001t0056g0057 a0001c0002t0009g0084 a0001c0002t0009g0206 a0001c0004t0003g0051 a0001c0013t0053g0069 a0005c0010t0005g0083	34	280	0.1214	506	c.809 others(523): Show c.809-3250_809-3249insTGGGGCGTCAGGGAGGAGGTGCTGAGGC CTCAGGGAGGAGGTGCAGGGGCCTCAGGGAGGAGGTGCAGGGGCGTCAGG GAGGAGGTGCAGGGGCCTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAG GTGCAGGGAAGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAG GGGCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGGAAGT CAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCAGGGGCCTCAGGGA GGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGGAAGTCAGGGAGGAGGT GCAGGGGCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGG AAGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCTGGGGCCTCA GGGAGGAGGTGCAGGGACGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGG AGGTGCTGGGACCTCAGGGAGGAGGTGC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	468030	G G	GTCAGGGA others(499): Show GTCAGGGAGGAGGTGCTGGGGTGTCAGGGAGGAGGTGCTGAGGCCTCAGG GAGGAGGTGCAGGGGCCTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAG GTGCAGGGGCCTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAG GGAAGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGGGCGT CAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGGAAGTCAGGGA GGAGGTGCTGGGGCGTCAGGGAGGAGGTGCAGGGGCCTCAGGGAGGAGGT GCAGGGGCGTCAGGGAGGAGGTGCAGGGAAGTCAGGGAGGAGGTGCAGGG GCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGGAAGTCA GGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGG AGGTGCAGGGACGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGC TGGGACC	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0050 a0001c0001t0049g0050	1	247	0.0040	506	c.809 others(523): Show c.809-3250_809-3249insTGGGGTGTCAGGGAGGAGGTGCTGAGGC CTCAGGGAGGAGGTGCAGGGGCCTCAGGGAGGAGGTGCAGGGGCGTCAGG GAGGAGGTGCAGGGGCCTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAG GTGCAGGGAAGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAG GGGCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGGAAGT CAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCAGGGGCCTCAGGGA GGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGGAAGTCAGGGAGGAGGT GCAGGGGCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGG AAGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCTGGGGCCTCA GGGAGGAGGTGCAGGGACGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGG AGGTGCTGGGACCTCAGGGAGGAGGTGC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr16	TogoVar

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