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
PCDHGA1_chr5_141325514_141517975	141333382	T T	TAGAAACG others(346): Show TAGAAACGGCGATCTAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGAC CATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGGAAGCGGAGCTTGCAGTGAGCCGA GATTGCGCCACTGCAGTCCGCAGTCTGGCCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0216 a0001c0002t0001g0216	1	268	0.0037	353	c.242 others(370): Show c.2421+293_2421+294insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATC GAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGGAAGCGGAGCTTGCAGTGA GCCGAGATTGCGCCACTGCAGTCCGCAGTCTGGCCTGGGCGACAGAGCGA GACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAGAAACGGCGATCTAG	PCDHGA1	ENSG00000204956.6	transcript	ENST00000517417.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCSK6_chr15_101298933_101494707	101311636	T T	TCCCTCAC others(346): Show TCCCTCACAGCCCACCGCATCATCACACCCTCACAGCTCACCCCATCATC ACACCCTCACAGCCCACCCCATCATCACCCCTCACAGCCCACCCCATCGT CACCCCTCACAGCCCACCCCATCATCACCCCTCACAGCTCACCCCATCGT CACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCAT CACACCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCG TCACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCG TCACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCG TCAC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0115 a0001c0006t0001g0115	1	336	0.0030	353	c.269 others(372): Show c.2699+1739_2699+1740insGTGACGATGGGGTGGGCTGTGAGGGG TGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGGG TGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGGG TGACGATGGGGTGGGCTGTGAGGGTGTGATGATGGGGTGGGCTGTGAGGG GTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGAGCTGTGAGGG GTGATGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGG GTGATGATGGGGTGGGCTGTGAGGGTGTGATGATGGGGTGAGCTGTGAGG GTGTGATGATGCGGTGGGCTGTGAGGG	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21			chr15	TogoVar
PDE10A_chr6_165322289_165668241	165619367	G G	GTGTAGTC others(346): Show GTGTAGTCTAGTATAGTGTAGTGTAGTGTAGTCTAGTGTAGCCTAGTGTA GTGTAGGCTAGGGTAGGCTAGTGTAGGCTAGTGTAGTGTAGTAGTGTAGT CTAGTGTAGTGTAGTCTAGTGTAGTCTAGTATAGTGTAGTGTAGTCTAGT GTACTGTAGTGTAGTATAGTGTAGTCTAGTGTGGTGTGGTGTGGTGTAGT GTAGTCTAGTGTAGTCTAGTGTACTGTAGTGTAGTGCAGTGTAGTCTAGT GTAGTACAGTCTAGTGTAGTCTAGTATAGTGTAGTCCAGTGTAGTGTAGT ATAGTCTAGTGTACTGTAGTGTAGTGTAGTGTAGTCTAGTGTAGTCTAGT GTAC	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01496.hp2 HG01884.hp2 others(17): Show HG01071.hp2 HG01496.hp2 HG01884.hp2 HG02055.hp2 HG02451.hp1 HG02559.hp2 HG02572.hp1 HG02630.hp1 HG02895.hp1 HG02976.hp2 HG03491.hp2 HG03492.hp1 HG03927.hp2 HG04184.hp1 HG06807.hp2 NA18948.hp2 NA18956.hp2 NA18998.hp2 NA19030.hp1 NA19090.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0019 a0001c0025 a0002c0029 a0006c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0020 a0001c0001t0032 a0001c0002t0006 a0001c0003t0001 a0001c0003t0016 a0001c0005t0006 a0001c0006t0002 a0001c0019t0008 a0001c0025t0001 a0002c0029t0034 a0006c0018t0001	a0001c0001t0001g0022 a0001c0001t0001g0036 a0001c0001t0001g0063 others(17): Show a0001c0001t0001g0022 a0001c0001t0001g0036 a0001c0001t0001g0063 a0001c0001t0001g0201 a0001c0001t0002g0079 a0001c0001t0002g0122 a0001c0001t0002g0189 a0001c0001t0003g0014 a0001c0001t0003g0190 a0001c0001t0020g0037 a0001c0001t0032g0202 a0001c0002t0006g0165 a0001c0003t0001g0065 a0001c0003t0016g0145 a0001c0005t0006g0199 a0001c0006t0002g0214 a0001c0019t0008g0200 a0001c0025t0001g0066 a0002c0029t0034g0219 a0006c0018t0001g0081	20	222	0.0901	353	c.865 others(372): Show c.865+42579_865+42580insGTACACTAGACTACACTAGACTACAC TACACTACACTACAGTACACTAGACTATACTACACTACACTGGACTACAC TATACTAGACTACACTAGACTGTACTACACTAGACTACACTGCACTACAC TACAGTACACTAGACTACACTAGACTACACTACACCACACCACACCACAC TAGACTACACTATACTACACTACAGTACACTAGACTACACTACACTATAC TAGACTACACTAGACTACACTACACTAGACTACACTACTACACTACACTA GCCTACACTAGCCTACCCTAGCCTACACTACACTAGGCTACACTAGACTA CACTACACTACACTATACTAGACTACA	PDE10A	ENSG00000112541.19	transcript	ENST00000539869.4	protein_coding	1/21			chr6	TogoVar
PDE8B_chr5_77205680_77433256	77420370	T T	TAAAACCT others(346): Show TAAAACCTACTCATGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0281 a0001c0001t0002g0281	1	314	0.0032	353	c.225 others(370): Show c.2250+497_2250+498insGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCG AGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAACCTACTCATG	PDE8B	ENSG00000113231.14	transcript	ENST00000264917.10	protein_coding	19/21		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDXK_chr21_43714129_43767299	43743128	A A	ATGGGGAC others(346): Show ATGGGGACACCTCGCCTGCACCCACCTCCCTCCCCCCAGCTCCTGAGCAC TATGGGGACACCTCGCCTGCATCCACCTCCCTCCCCCCGCCCCCAGCACT GTGGGGACACCTCGCCTGCACCCACCTCCCTCCCCCCAGCTCCCGAGCAC TGTGGGGACACCTCACCTGCACCCACCTCCCTCCCCCCGCTCTGAGCACT ATGGGGACACCTCGCCTGCACCCACCTCCCTCCCCCCAGCTCCCGAGCAC TGTGGGGACACCTCACCTGCACCCACCTCCCTCCCCCCAGCTCCCGAGCA CTGTGGGGACACCTCGCCTGCACCCACCTCCCTCCCCCCAGCTCCCGAGC ACTG	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0003 a0001c0003t0008g0003	1	358	0.0028	353	c.248 others(368): Show c.248-433_248-432insACCTGCACCCACCTCCCTCCCCCCGCTCTG AGCACTATGGGGACACCTCGCCTGCACCCACCTCCCTCCCCCCAGCTCCC GAGCACTGTGGGGACACCTCACCTGCACCCACCTCCCTCCCCCCAGCTCC CGAGCACTGTGGGGACACCTCGCCTGCACCCACCTCCCTCCCCCCAGCTC CCGAGCACTGTGGGGACACCTCGCCTGCACCCACCTCCCTCCCCCCAGCT CCTGAGCACTATGGGGACACCTCGCCTGCATCCACCTCCCTCCCCCCGCC CCCAGCACTGTGGGGACACCTCGCCTGCACCCACCTCCCTCCCCCCAGCT CCCGAGCACTGTGGGGACACCTC	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PEBP4_chr8_22708251_22932914	22922440	C C	CAAGACTA others(346): Show CAAGACTAGGCACAGTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGAC CATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAACAAAAACAAAAAAACAAAAAAA ACAA	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA19000.hp2 NA18993.hp1 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0154 a0001c0001t0002g0275 a0001c0001t0001g0154 a0001c0001t0002g0275	2	278	0.0072	353	c.132 others(370): Show c.132-2131_132-2130insTTGTTTTTTTTGTTTTTTTGTTTTTGTT TTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGC CGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTA CAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGAT CCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCCCACTGTGCCTAGTCTT	PEBP4	ENSG00000134020.8	transcript	ENST00000256404.8	protein_coding	2/6			chr8	TogoVar
PIGZ_chr3_196941356_196973833	196949000	A A	ACTTCCCT others(346): Show ACTTCCCTTCCTTCCCTTCCCCTCCCCTCCCTTCCTTCCCTTCCCCTCCC CTCCCTTCCCTTCCTTCCCTTCCCCTCCCCTCCCTTCCTTCCCTTCCCCT CCCCTCCCTTCCCTTCCTTCCCTTCCCCTCCCCTCCCTTCCCTTCCTTCC CTTCCTTCCCTTCCTTCCCTTCCCTTCCTTTCCTTTACTTCCCTTCCTTC CCTTCCCCTCCCCTCCCTTCCCTTCCTTCCCTTCCCCTCCCCTCCCTTCC CTTCCTTCCCTTCCCCTCCCCTCCCTTCCCTCCCTTCCCTTCCTTCCCTT CCCTTCCTTTCCTTTACTTCCCTTCCTTCCCTTCCCCTCCCCTCCCTTCC CTTC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG06807.hp2 NA19030.hp2 HG02109.hp2 HG06807.hp2 NA19030.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0250 a0002c0002t0001g0254 a0002c0002t0001g0266 a0002c0002t0001g0250 a0002c0002t0001g0254 a0002c0002t0001g0266	3	424	0.0071	353	c.212 others(368): Show c.212-316_212-315insGAAGGGAAGGGAGGGGAGGGGAAGGGAAGG AAGGGAAGTAAAGGAAAGGAAGGGAAGGGAAGGAAGGGAAGGGAGGGAAG GGAGGGGAGGGGAAGGGAAGGAAGGGAAGGGAGGGGAGGGGAAGGGAAGG AAGGGAAGGGAGGGGAGGGGAAGGGAAGGAAGGGAAGTAAAGGAAAGGAA GGGAAGGGAAGGAAGGGAAGGAAGGGAAGGAAGGGAAGGGAGGGGAGGGG AAGGGAAGGAAGGGAAGGGAGGGGAGGGGAAGGGAAGGAAGGGAGGGGAG GGGAAGGGAAGGAAGGGAAGGGAGGGGAGGGGAAGGGAAGGAAGGGAGGG GAGGGGAAGGGAAGGAAGGGAAG	PIGZ	ENSG00000119227.8	transcript	ENST00000412723.6	protein_coding	2/2			chr3	TogoVar
PIMREG_chr17_6439455_6456469	6455724	G G	GGAGGGGA others(346): Show GGAGGGGAGGGGGGAAGAGGGGAGGGGGAAGAGGGGAGGGGAGGGGAGGG GGAAGAGGGGAGGGGAGGGGAGGGGGAAGAGGGGAGGGGAGGAGATGGGA GGGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGGGAGGGGAGAGGAGG GAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGG GAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGA AGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAG AGGGGAAGGGGGGAGGGGAGAGGAGGGAAGGGGGAAGAGGGGATGGGAGG GGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0027 a0001c0002t0004g0027	1	312	0.0032	353	c.53 others(364): Show c.5377_*5378insGAGGGGAGGGGGGAAGAGGGGAGGGGGAAGAGGG GAGGGGAGGGGAGGGGGAAGAGGGGAGGGGAGGGGAGGGGGAAGAGGGGA GGGGAGGAGATGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGG GGAGGGGAGAGGAGGGAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGGG AAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAA GGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGG GAGGGGAGGGGGAAGAGGGGAAGGGGGGAGGGGAGAGGAGGGAAGGGGGA AGAGGGGATGGGAGGGGAA	PIMREG	ENSG00000129195.16	transcript	ENST00000572447.6	protein_coding		4256		chr17	TogoVar
PIMREG_chr17_6439455_6456469	6455724	G G	GGAGGGGG others(346): Show GGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGGGAGGGGAGAGG AGGGAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAG GGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGG GGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGG AAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAA GAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGGGGGAAGAGGGGAAG GGGAGAGGAGGGGAGGGGAGAGGAGGGAAGGGGGAAGAGGGGATGGGAGG GGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00597.hp2 others(47): Show HG00280.hp1 HG00280.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00738.hp1 HG01074.hp1 HG01081.hp1 HG01106.hp1 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp2 HG01256.hp1 HG01258.hp2 HG01261.hp1 HG01515.hp1 HG01515.hp2 HG01934.hp2 HG01978.hp2 HG02074.hp2 HG02083.hp2 HG02273.hp1 HG02451.hp1 HG02735.hp2 HG02818.hp2 HG03017.hp1 HG03017.hp2 HG03225.hp1 HG03225.hp2 HG03669.hp2 HG04115.hp1 HG04184.hp2 NA18747.hp1 NA18943.hp2 NA18945.hp2 NA18951.hp2 NA18952.hp2 NA18971.hp2 NA18972.hp2 NA18980.hp2 NA18983.hp2 NA18999.hp2 NA19057.hp2 NA19070.hp2 NA19085.hp1 NA19087.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0001 a0001c0001t0002 a0001c0001t0007	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(21): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0034 a0001c0001t0001g0054 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0001g0080 a0001c0001t0001g0085 a0001c0001t0001g0105 a0001c0001t0001g0117 a0001c0001t0001g0136 a0001c0001t0002g0019 a0001c0001t0002g0042 a0001c0001t0002g0135 a0001c0001t0007g0047	50	312	0.1603	353	c.53 others(364): Show c.5377_*5378insGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAT AGGGGAGGGGAGAGGAGGGAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAG GGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGG GAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGA AGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAG GGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGG GGGGAAGAGGGGAAGGGGAGAGGAGGGGAGGGGAGAGGAGGGAAGGGGGA AGAGGGGATGGGAGGGGAA	PIMREG	ENSG00000129195.16	transcript	ENST00000572447.6	protein_coding		4256		chr17	TogoVar
PIMREG_chr17_6439455_6456469	6455727	G G	GGGGGAAA others(346): Show GGGGGAAAGGGGAAGGGAGGGGAGGGGGAATAGGGGAGGGGAGAGGAGGG AAGAGGGAAGAGGGGAGGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGG GAAGAGGGGAAGGGAGGGGAGAGGGGAAGAGGGGAAGGGAGGGGAGGGGG AAGAGGGGAAGGGGAGGGAGGGGGAAAGAGGGGAAGGGAGGGGAGGGGGA AGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGATG AGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGGGGGAAGAGGGGAAGG GGAGAGGAGGGGAGGGGAGAGGAGGAAGGGGGAAGAGGGTATGGGAGGGG AAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	312	0.0032	353	c.53 others(364): Show c.5380_*5381insGGGGAAAGGGGAAGGGAGGGGAGGGGGAATAGGG GAGGGGAGAGGAGGGAAGAGGGAAGAGGGGAGGGGGAGGGGGAAGAGGGG AAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGAGGGGAAGAGGGGA AGGGAGGGGAGGGGGAAGAGGGGAAGGGGAGGGAGGGGGAAAGAGGGGAA GGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGG GAGGGGAGGGGGATGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGG GGGAAGAGGGGAAGGGGAGAGGAGGGGAGGGGAGAGGAGGAAGGGGGAAG AGGGTATGGGAGGGGAAGA	PIMREG	ENSG00000129195.16	transcript	ENST00000572447.6	protein_coding		4259		chr17	TogoVar
PITPNM3_chr17_6446263_6561555	6455724	G G	GGAGGGGA others(346): Show GGAGGGGAGGGGGGAAGAGGGGAGGGGGAAGAGGGGAGGGGAGGGGAGGG GGAAGAGGGGAGGGGAGGGGAGGGGGAAGAGGGGAGGGGAGGAGATGGGA GGGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGGGAGGGGAGAGGAGG GAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGG GAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGA AGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAG AGGGGAAGGGGGGAGGGGAGAGGAGGGAAGGGGGAAGAGGGGATGGGAGG GGAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0128 a0001c0001t0006g0128	1	218	0.0046	353	c.262 others(368): Show c.2620-82_2620-81insTTCCCCTCCCATCCCCTCTTCCCCCTTCCC TCCTCTCCCCTCCCCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCT TCCCCCTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTTC CCCCTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTTCCC CCTCCCCTCCCCTCTTCCCTCTTCCCTCCTCTCCCCTCCCCTATTCCCCC TCCCCTCCCTTCCCCTCTTCCCCCTCCCATCTCCTCCCCTCCCCTCTTCC CCCTCCCCTCCCCTCCCCTCTTCCCCCTCCCCTCCCCTCCCCTCTTCCCC CTCCCCTCTTCCCCCCTCCCCTC	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding	19/19			chr17	TogoVar
PITPNM3_chr17_6446263_6561555	6455724	G G	GGAGGGGG others(346): Show GGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGGGAGGGGAGAGG AGGGAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAG GGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGG GGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGG AAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAA GAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGGGGGAAGAGGGGAAG GGGAGAGGAGGGGAGGGGAGAGGAGGGAAGGGGGAAGAGGGGATGGGAGG GGAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00438.hp1 others(34): Show HG00280.hp1 HG00280.hp2 HG00438.hp1 HG00438.hp2 HG00621.hp1 HG00738.hp1 HG00741.hp1 HG01074.hp1 HG01081.hp1 HG01106.hp1 HG01256.hp1 HG01258.hp2 HG01261.hp1 HG01361.hp1 HG01361.hp2 HG01515.hp1 HG01515.hp2 HG02074.hp1 HG02132.hp2 HG02300.hp2 HG02451.hp2 HG02735.hp1 HG02735.hp2 HG03225.hp1 HG03225.hp2 HG03669.hp2 HG04115.hp2 HG04184.hp2 NA18747.hp2 NA18945.hp2 NA18951.hp1 NA18952.hp1 NA18970.hp1 NA18970.hp2 NA18984.hp2 NA19070.hp1 NA19088.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0003c0008	a0001c0001t0001 a0001c0001t0004 a0001c0001t0023 others(10): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0023 a0001c0001t0028 a0001c0001t0037 a0001c0001t0042 a0001c0001t0083 a0001c0002t0001 a0001c0002t0005 a0001c0003t0001 a0001c0006t0005 a0003c0008t0001 a0003c0008t0005	a0001c0001t0001g0016 a0001c0001t0001g0094 a0001c0001t0001g0096 others(34): Show a0001c0001t0001g0016 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0116 a0001c0001t0001g0137 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0151 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0001g0201 a0001c0001t0004g0154 a0001c0001t0004g0167 a0001c0001t0004g0204 a0001c0001t0004g0205 a0001c0001t0023g0193 a0001c0001t0023g0194 a0001c0001t0028g0206 a0001c0001t0037g0183 a0001c0001t0042g0114 a0001c0001t0083g0136 a0001c0002t0001g0060 a0001c0002t0001g0104 a0001c0002t0005g0115 a0001c0003t0001g0174 a0001c0003t0001g0202 a0001c0003t0001g0214 a0001c0006t0005g0048 a0003c0008t0001g0101 a0003c0008t0001g0102 a0003c0008t0005g0176	37	218	0.1697	353	c.262 others(368): Show c.2620-82_2620-81insTTCCCCTCCCATCCCCTCTTCCCCCTTCCC TCCTCTCCCCTCCCCTCCTCTCCCCTTCCCCTCTTCCCCCCCTTCCCCTC TTCCCCCTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTT CCCCCTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTTCC CCCTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTTCCCC CTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTTCCCCCT CCCCTCCCCTCTTCCCTCTTCCCTCCTCTCCCCTCCCCTATTCCCCCTCC CCTCCCTTCCCCTCTTCCCCCTC	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding	19/19			chr17	TogoVar
PIWIL3_chr22_24714034_24779720	24733295	G G	GAAAGAAA others(346): Show GAAAGAAAAAGAATTTGCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA AAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAG CCGAGATTGCGCCACTGCGGTCCGCAGTCCGGCCTGGGCGACAGAGCGAG ACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0348 a0001c0001t0001g0348	1	386	0.0026	353	c.170 others(370): Show c.1707+788_1707+789insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGAC TGCGGACCGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGG GTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGC GCCCGCCACCGCGCCCGGCTAATTTTTTTTTGTATTTTTAGTAGAGACGG GGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCC ACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCG CCCGGCCAGCAAATTCTTTTTCTTT	PIWIL3	ENSG00000184571.14	transcript	ENST00000616349.5	protein_coding	14/20			chr22	TogoVar
PKD1L1_chr7_47769614_47953466	47793047	T T	TAAAAAAA others(346): Show TAAAAAAAAAACTATTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAA ACAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00609.hp2 HG02071.hp2 others(4): Show HG00408.hp2 HG00609.hp2 HG02071.hp2 HG02293.hp1 HG03491.hp1 NA18947.hp1 NA19086.hp2	a0004 a0005 a0008 others(1): Show a0004 a0005 a0008 a0013	a0004c0012 a0005c0002 a0005c0009 others(2): Show a0004c0012 a0005c0002 a0005c0009 a0008c0010 a0013c0020	a0004c0012t0001 a0005c0002t0001 a0005c0009t0001 others(2): Show a0004c0012t0001 a0005c0002t0001 a0005c0009t0001 a0008c0010t0001 a0013c0020t0001	a0004c0012t0001g0292 a0005c0002t0001g0042 a0005c0002t0001g0121 others(4): Show a0004c0012t0001g0292 a0005c0002t0001g0042 a0005c0002t0001g0121 a0005c0002t0001g0135 a0005c0009t0001g0122 a0008c0010t0001g0132 a0013c0020t0001g0153	7	306	0.0229	353	c.835 others(370): Show c.8356-251_8356-250insTTGTTTTGTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCC TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACT ACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGA TCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCCAATAGTTTTTTTTTT	PKD1L1	ENSG00000158683.10	transcript	ENST00000289672.7	protein_coding	55/56			chr7	TogoVar
PKD1L1_chr7_47769614_47953466	47793050	A A	AAAAAAAA others(346): Show AAAAAAAACTATTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAGGAGATCGAGACCATC CCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCC CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAACA AAAC	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0002 a0002	a0002c0132 a0002c0132	a0002c0132t0001 a0002c0132t0001	a0002c0132t0001g0185 a0002c0132t0001g0185	1	306	0.0033	353	c.835 others(370): Show c.8356-254_8356-253insGTTTTGTTTTGTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGG ACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCG TGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCCAATAGTTTTTTT	PKD1L1	ENSG00000158683.10	transcript	ENST00000289672.7	protein_coding	55/56			chr7	TogoVar
PKHD1_chr6_51610299_52092613	51989901	G G	GAGGAAGG others(346): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAG GAAGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAA GAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGA AAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAAGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGAAAGGAAGGA AAGA	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0044 a0044	a0044c0075 a0044c0075	a0044c0075t0001 a0044c0075t0001	a0044c0075t0001g0119 a0044c0075t0001g0119	1	134	0.0075	353	c.575 others(374): Show c.5751+20407_5751+20408insTCTTTCCTTCCTTTCTTCCTTCCT TCTTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC TTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCTTTCCTTCCTTCCT TCCTTCCTTCCTTCTTTCCTTCCTTCCTTCTTTCCTTCCTTCCTCCCTCC CTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCCTCCTCCCTCCCTCC CTCCTTCCTTCCTTCCTTCCTTCCTTCCT	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66			chr6	TogoVar
PKHD1_chr6_51610299_52092613	51989901	G G	GAGGAAGG others(346): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAG GAAGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAA GAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGA AAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAAGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGAAAGGAAGGA AAGA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0002 a0002	a0002c0020 a0002c0020	a0002c0020t0008 a0002c0020t0008	a0002c0020t0008g0110 a0002c0020t0008g0110	1	134	0.0075	353	c.575 others(374): Show c.5751+20407_5751+20408insTCTTTCCTTCCTTTCTTCCTTCCT TCTTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC TTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCTTTCCTTCCTTCCT TCCTTCCTTCCTTCTTTCCTTCCTTCCTTCTTTCCTTCCTTCCTCCCTCC CTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCCTCCTCCCTCCCTCC CTCCTTCCTTCCTTCCTTCCTTCCTTCCT	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66			chr6	TogoVar
PKHD1_chr6_51610299_52092613	51989901	G G	GAGGAAGG others(346): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAG GAAGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAA GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGA AGGAAGGAAAGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGAAAGGAAGGA AAGA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02486.hp2 NA20752.hp2 HG02055.hp1 HG02486.hp2 NA20752.hp2	a0003 a0004 a0003 a0004	a0003c0041 a0003c0048 a0004c0006 a0003c0041 a0003c0048 a0004c0006	a0003c0041t0001 a0003c0048t0001 a0004c0006t0002 a0003c0041t0001 a0003c0048t0001 a0004c0006t0002	a0003c0041t0001g0046 a0003c0048t0001g0047 a0004c0006t0002g0048 a0003c0041t0001g0046 a0003c0048t0001g0047 a0004c0006t0002g0048	3	134	0.0224	353	c.575 others(374): Show c.5751+20407_5751+20408insTCTTTCCTTCCTTTCTTCCTTCCT TCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTC CTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCTTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTCCCTCC CTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCCTCCTCCCTCCCTCC CTCCTTCCTTCCTTCCTTCCTTCCTTCCT	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66			chr6	TogoVar
PKHD1_chr6_51610299_52092613	51989903	G G	GGAAGGAA others(346): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAGGA AGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAAGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAG GAAGGAAAGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGAAAGGAAG GAAA	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0011 a0004c0008t0011	a0004c0008t0011g0026 a0004c0008t0011g0026	1	134	0.0075	353	c.575 others(374): Show c.5751+20405_5751+20406insTTTCCTTCCTTTCTTCCTTCCTTC TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCT TCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCTTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTC TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTCCCT CCCTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCCTCCTCCCTCCCT CCCTCCTTCCTTCCTTCCTTCCTTCCTTC	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66			chr6	TogoVar
PKHD1_chr6_51610299_52092613	51989903	G G	GGAAGGAA others(346): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAGGA AGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAAGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAG GAAGGAAAGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAG GAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGAAAGGAAG GAAA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0003 a0004c0008t0003	a0004c0008t0003g0003 a0004c0008t0003g0003	1	134	0.0075	353	c.575 others(374): Show c.5751+20405_5751+20406insTTTCCTTCCTTTCTTCCTTCCTTC TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCT TCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCTTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTC TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTCCCT CCCTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCCTCCTCCCTCCCT CCCTCCTTCCTTCCTTCCTTCCTTCCTTC	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66			chr6	TogoVar
PKHD1_chr6_51610299_52092613	51989903	G G	GGAAGGAA others(346): Show GGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAGGAAGGA AGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAAGAAGGAAGGA AGGAAGGAAGGAAGGAAAGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAG GAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAG GAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGAAAGGAAG GAAA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0061 a0001c0061	a0001c0061t0001 a0001c0061t0001	a0001c0061t0001g0064 a0001c0061t0001g0064	1	134	0.0075	353	c.575 others(374): Show c.5751+20405_5751+20406insTTTCCTTCCTTTCTTCCTTCCTTC TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCT TCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTT TCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTC CTTCTTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCT TCCTCCCTCCCTCCCTCCTCCCTCCCTCCTTCCTTCCTTCCCTCCTCCCT CCCTCCCTCCTTCCTTCCTTCCTTCCTTC	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66			chr6	TogoVar
PLPP1_chr5_55419854_55539964	55433460	T T	TTCAGTAA others(346): Show TTCAGTAAAGTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCGGGACTGAG GACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTC ACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCC GCCACCGCGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTT CACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCG CCTCGGCCTCCCAAAGTGCTGGGATTACAGGCCTGAGCCACCGCGCCCGG CCAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 NA19091.hp1 HG00140.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0108 a0001c0001t0007g0015 a0001c0001t0001g0108 a0001c0001t0007g0015	2	294	0.0068	353	c.550 others(370): Show c.550-7422_550-7421insGTGGCCGGGCGCGGTGGCTCAGGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAG TGAGCCGAGATTGCGCCACTGCAGTCCTCAGTCCCGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAACAAAAAACTTTACTGA	PLPP1	ENSG00000067113.17	transcript	ENST00000307259.9	protein_coding	4/5			chr5	TogoVar
PLPP1_chr5_55419854_55539964	55433460	T T	TTCAGTAA others(346): Show TTCAGTAAAGTTTTTTTTTGTTGTTTTTTTTTTTGTTTGTTTGTTTTTTG TTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCGGGACTGAG GACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTC ACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCC GCCACCGCGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTT CACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCG CCTCGGCCTCCCAAAGTGCTGGGATTACAGGCCTGAGCCACCGCGCCCGG CCAC	intron_variant intron_variant	MODIFIER	HG00609.hp1 NA18612.hp1 NA18954.hp2 others(4): Show HG00609.hp1 NA18612.hp1 NA18954.hp2 NA18977.hp2 NA18983.hp1 NA19068.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 others(4): Show a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0222 a0001c0001t0001g0224	7	294	0.0238	353	c.550 others(370): Show c.550-7422_550-7421insGTGGCCGGGCGCGGTGGCTCAGGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAG TGAGCCGAGATTGCGCCACTGCAGTCCTCAGTCCCGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAACAAAAAACAAACAAACAAAAAAAA AAACAACAAAAAAAAACTTTACTGA	PLPP1	ENSG00000067113.17	transcript	ENST00000307259.9	protein_coding	4/5			chr5	TogoVar
PLPP1_chr5_55419854_55539964	55433460	T T	TTCAGTAA others(346): Show TTCAGTAAAGTTTTTTTTTTTTGTTTTTTTTTTTGTTTGTTTGTTTTTTG TTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCGGGACTGAG GACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTC ACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCC GCCACCGCGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTT CACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCG CCTCGGCCTCCCAAAGTGCTGGGATTACAGGCCTGAGCCACCGCGCCCGG CCAC	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	294	0.0034	353	c.550 others(370): Show c.550-7422_550-7421insGTGGCCGGGCGCGGTGGCTCAGGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAG TGAGCCGAGATTGCGCCACTGCAGTCCTCAGTCCCGCCTGGGTGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAACAAAAAACAAACAAACAAAAAAAA AAACAAAAAAAAAAAACTTTACTGA	PLPP1	ENSG00000067113.17	transcript	ENST00000307259.9	protein_coding	4/5			chr5	TogoVar
PLPP1_chr5_55419854_55539964	55433460	T T	TTCAGTAA others(346): Show TTCAGTAAAGTTTTTTTTTTTTGTTTTTTTTTTTGTTTGTTTGTTTTTTG TTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCGGGACTGAG GACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTC ACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCC GCCACCGCGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTT CACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCG CCTCGGCCTCCCAAAGTGCTGGGATTACAGGCCTGAGCCACCGCGCCCGG CCAC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01433.hp1 HG01952.hp1 others(16): Show HG00741.hp2 HG01433.hp1 HG01952.hp1 HG01993.hp1 HG02273.hp2 HG02630.hp2 HG02809.hp1 HG03471.hp2 HG03669.hp2 HG04204.hp1 NA18947.hp1 NA18950.hp2 NA18961.hp2 NA18970.hp1 NA18972.hp2 NA18994.hp1 NA19064.hp2 NA19066.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0187 a0001c0001t0001g0190 others(16): Show a0001c0001t0001g0181 a0001c0001t0001g0187 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0221	19	294	0.0646	353	c.550 others(370): Show c.550-7422_550-7421insGTGGCCGGGCGCGGTGGCTCAGGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAG TGAGCCGAGATTGCGCCACTGCAGTCCTCAGTCCCGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAACAAAAAACAAACAAACAAAAAAAA AAACAAAAAAAAAAAACTTTACTGA	PLPP1	ENSG00000067113.17	transcript	ENST00000307259.9	protein_coding	4/5			chr5	TogoVar
PLPP1_chr5_55419854_55539964	55433460	T T	TTCAGTAA others(346): Show TTCAGTAAAGTTTTTTTTTTTTGTTTTTTTTTTTTTTTGTTTGTTTTTTG TTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCGGGACTGAG GACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTC ACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCC GCCACCGCGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTT CACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCG CCTCGGCCTCCCAAAGTGCTGGGATTACAGGCCTGAGCCACCGCGCCCGG CCAC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02280.hp2 HG02717.hp2 others(7): Show HG02258.hp2 HG02280.hp2 HG02717.hp2 HG02818.hp2 HG02896.hp1 HG02897.hp2 HG03098.hp2 HG03516.hp1 HG03579.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0210 others(7): Show a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0219 a0001c0001t0001g0220	10	294	0.0340	353	c.550 others(370): Show c.550-7422_550-7421insGTGGCCGGGCGCGGTGGCTCAGGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAG TGAGCCGAGATTGCGCCACTGCAGTCCTCAGTCCCGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAACAAAAAACAAACAAAAAAAAAAAA AAACAAAAAAAAAAAACTTTACTGA	PLPP1	ENSG00000067113.17	transcript	ENST00000307259.9	protein_coding	4/5			chr5	TogoVar
PPP6R2_chr22_50338327_50450090	50397618	G G	GGGGGGCC others(346): Show GGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGA GTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCTTGTCAT CTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGCC TGTCCTCACCAGCCCTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACT TGGGATGGGGGCGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCT TTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCAC CAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGG GGCA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0122 a0001c0001t0007g0122	1	340	0.0029	353	c.227 others(370): Show c.227+3604_227+3605insTGTGACTTGGGATGGGGGCAGGGGGGCC TGTCCTCACCAGCCCTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACT TGGGATGGGGGCGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCT TTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCAC CAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGG GGCAGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGA GGAGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCTTGT CATCTCTGAGCTTTTCTCTGAGGAG	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PRKN_chr6_161342417_162732766	162592819	T T	TACTTGGC others(346): Show TACTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAG GCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAA ACGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAG TGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATG GCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGC ACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAA AAAAAAAAAAAAATATATATATATATATATATATATATATATATATATAT ATAC	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	32	0.0313	353	c.7+1 others(370): Show c.7+134842_7+134843insGTATATATATATATATATATATATATAT ATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGATGGGGTTTCACCGTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCAAGT	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	1/11			chr6	TogoVar
PTCRA_chr6_42911053_42930838	42919783	T T	TCTGTAAT others(346): Show TCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGAGTGGATCATTTGAGGT CAGGAGTTGGAGACCAGCCTGGCCAACACGGTGAAACCTTGTCTCTACAA AAAATACAAAAAAAATCAGCCAGACCTGGTGGCGCACACCTGTAATCCCA ATTACTCGGGAGGCTTAAGCAGGAGAATTTCTTGAACCCCAGAAGTGGAG ATTGCAGTGAGCTGAGATTGTGCTACTGCACTCCAGCCTGGGTAAGATAG TGAGACTCCATCTCAAAAAAATAAAAGAAAATTTTTGTTACATATTAAAT GAGTCATCTTTGCTGAAAAGAATAAGATTGCAGCCTGGGCCTGTTGACTC ATGC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00438.hp2 HG00642.hp1 others(54): Show HG00323.hp2 HG00438.hp2 HG00642.hp1 HG00733.hp1 HG01081.hp1 HG01175.hp2 HG01243.hp1 HG01261.hp1 HG01993.hp1 HG02004.hp1 HG02258.hp2 HG02273.hp1 HG02293.hp2 HG02559.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02818.hp2 HG03209.hp2 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG04184.hp2 HG04199.hp2 HG04228.hp2 NA18940.hp2 NA18941.hp2 NA18945.hp2 NA18960.hp1 NA18961.hp1 NA18963.hp2 NA18966.hp1 NA18968.hp2 NA18969.hp1 NA18972.hp2 NA18978.hp1 NA18982.hp1 NA18993.hp1 NA18999.hp1 NA19002.hp2 NA19004.hp1 NA19011.hp2 NA19030.hp1 NA19043.hp2 NA19062.hp1 NA19065.hp1 NA19067.hp1 NA19079.hp1 NA19080.hp1 NA19086.hp1 NA19087.hp1 NA19090.hp1 NA19090.hp2 NA20129.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0007 a0001c0001 a0007c0007	a0001c0001t0001 a0007c0007t0001 a0001c0001t0001 a0007c0007t0001	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0016 others(30): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0016 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0043 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0187 a0007c0007t0001g0034	57	412	0.1384	353	c.59- others(368): Show c.59-3212_59-3211insAGTGGATCATTTGAGGTCAGGAGTTGGAGA CCAGCCTGGCCAACACGGTGAAACCTTGTCTCTACAAAAAATACAAAAAA AATCAGCCAGACCTGGTGGCGCACACCTGTAATCCCAATTACTCGGGAGG CTTAAGCAGGAGAATTTCTTGAACCCCAGAAGTGGAGATTGCAGTGAGCT GAGATTGTGCTACTGCACTCCAGCCTGGGTAAGATAGTGAGACTCCATCT CAAAAAAATAAAAGAAAATTTTTGTTACATATTAAATGAGTCATCTTTGC TGAAAAGAATAAGATTGCAGCCTGGGCCTGTTGACTCATGCCTGTAATCC CAGCACTTTGGGAGGCTGAGGTG	PTCRA	ENSG00000171611.10	transcript	ENST00000304672.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
PTCRA_chr6_42911053_42930838	42919783	T T	TCTGTAAT others(346): Show TCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGAGTGGATCATTTGAGGT CAGGAGTTGGAGACCAGCCTGGCCAACATGGTGAAACCTTGTCTCTACAA AAAATACAAAAAAAATCAGCCAGACCTGGTGGCACACACCTGTAATCCCA ATTACTCGGGAGGCTTAAGCAGGAGAATTTCTTGAACCCCAGAAGTGGAG ATTGCAGTGAGCTGAGATTGTGCTACTGCACTCCAGCCTGGGTAAGATAG TGAGACTCCATCTCAAAAAAATAAAAGAAAATTTTTGTTACATATTAAAT GAGTCATCTTTGCTGAAAAGAATAAGATTGCAGCCTGGGCCTGTTGACTC ATGC	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	412	0.0024	353	c.59- others(368): Show c.59-3212_59-3211insAGTGGATCATTTGAGGTCAGGAGTTGGAGA CCAGCCTGGCCAACATGGTGAAACCTTGTCTCTACAAAAAATACAAAAAA AATCAGCCAGACCTGGTGGCACACACCTGTAATCCCAATTACTCGGGAGG CTTAAGCAGGAGAATTTCTTGAACCCCAGAAGTGGAGATTGCAGTGAGCT GAGATTGTGCTACTGCACTCCAGCCTGGGTAAGATAGTGAGACTCCATCT CAAAAAAATAAAAGAAAATTTTTGTTACATATTAAATGAGTCATCTTTGC TGAAAAGAATAAGATTGCAGCCTGGGCCTGTTGACTCATGCCTGTAATCC CAGCACTTTGGGAGGCTGAGGTG	PTCRA	ENSG00000171611.10	transcript	ENST00000304672.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
PTCRA_chr6_42911053_42930838	42919783	T T	TCTGTAAT others(346): Show TCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGAGTGGATCATTTGAGGT CAGGAGTTGGAGACCAGCCTGGCCAACATGGTGAAACCTTGTCTCTACAA AAAATACAAAAAAAATCAGCCAGACCTGGTGGCGCACACCTGTAATCCCA ATTACTCGGGAGGCCTAAGCAGGAGAATTTCTTGAACCCCAGAAGTGGAG ATTGCAGTGAGCTGAGATTGTGCTACTGCACTCCAGCCTGGGTAAGATAG TGAGACTCCATCTCAAAAAAATAAAAGAAAATTTTTGTTACATATTAAAT GAGTCATCTTTGCTGAAAAGAATAAGATTGCAGCCTGGGCCTGTTGACTC ATGC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02109.hp2 HG03579.hp2 HG01891.hp2 HG02109.hp2 HG03579.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0020 a0005c0006t0001g0020	3	412	0.0073	353	c.59- others(368): Show c.59-3212_59-3211insAGTGGATCATTTGAGGTCAGGAGTTGGAGA CCAGCCTGGCCAACATGGTGAAACCTTGTCTCTACAAAAAATACAAAAAA AATCAGCCAGACCTGGTGGCGCACACCTGTAATCCCAATTACTCGGGAGG CCTAAGCAGGAGAATTTCTTGAACCCCAGAAGTGGAGATTGCAGTGAGCT GAGATTGTGCTACTGCACTCCAGCCTGGGTAAGATAGTGAGACTCCATCT CAAAAAAATAAAAGAAAATTTTTGTTACATATTAAATGAGTCATCTTTGC TGAAAAGAATAAGATTGCAGCCTGGGCCTGTTGACTCATGCCTGTAATCC CAGCACTTTGGGAGGCTGAGGTG	PTCRA	ENSG00000171611.10	transcript	ENST00000304672.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
PTCRA_chr6_42911053_42930838	42919783	T T	TCTGTAAT others(346): Show TCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGAGTGGATCATTTGAGGT CAGGAGTTGGAGACCAGCCTGGCCAACATGGTGAAACCTTGTCTCTACAA AAAATACAAAAAAAATCAGCCAGACCTGGTGGCGCACACCTGTAATCCCA ATTACTCGGGAGGCTTAAGCAGGAGAATTTCTTGAACCCCAGAAGTGGAG ATTGCAGTGAGCTGAGATTGTGCTACTGCACTCCAGCCTGGGTAAGATAG TGAGACTCCATCTCAAAAAAATAAAAGAAAATTTTTGTTACATATTAAAT GAGTCATCTTTGCTGAAAAGAATAAGATTGCAGCCTGGGCCTGTTGACTC ATGC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(345): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp2 NA18968.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp2 NA19087.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0006 a0008	a0001c0001 a0002c0002 a0003c0003 others(3): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0006c0005 a0008c0008	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 others(4): Show a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0003c0003t0002 a0004c0004t0001 a0006c0005t0001 a0008c0008t0002	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(200): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0109 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0029 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0059 a0002c0002t0001g0063 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0071 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0108 a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0001g0112 a0002c0002t0001g0113 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0116 a0002c0002t0001g0117 a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0121 a0002c0002t0001g0123 a0002c0002t0001g0124 a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0002t0001g0128 a0002c0002t0001g0129 a0002c0002t0001g0140 a0002c0002t0001g0194 a0002c0002t0001g0195 a0003c0003t0001g0056 a0003c0003t0002g0015 a0003c0003t0002g0028 a0003c0003t0002g0060 a0003c0003t0002g0064 a0003c0003t0002g0068 a0003c0003t0002g0135 a0003c0003t0002g0171 a0003c0003t0002g0192 a0004c0004t0001g0021 a0004c0004t0001g0130 a0004c0004t0001g0131 a0004c0004t0001g0174 a0006c0005t0001g0019 a0006c0005t0001g0122 a0006c0005t0001g0125 a0008c0008t0002g0073	348	412	0.8447	353	c.59- others(368): Show c.59-3212_59-3211insAGTGGATCATTTGAGGTCAGGAGTTGGAGA CCAGCCTGGCCAACATGGTGAAACCTTGTCTCTACAAAAAATACAAAAAA AATCAGCCAGACCTGGTGGCGCACACCTGTAATCCCAATTACTCGGGAGG CTTAAGCAGGAGAATTTCTTGAACCCCAGAAGTGGAGATTGCAGTGAGCT GAGATTGTGCTACTGCACTCCAGCCTGGGTAAGATAGTGAGACTCCATCT CAAAAAAATAAAAGAAAATTTTTGTTACATATTAAATGAGTCATCTTTGC TGAAAAGAATAAGATTGCAGCCTGGGCCTGTTGACTCATGCCTGTAATCC CAGCACTTTGGGAGGCTGAGGTG	PTCRA	ENSG00000171611.10	transcript	ENST00000304672.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
PTCRA_chr6_42911053_42930838	42919783	T T	TCTGTAAT others(346): Show TCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGAGTGGATCATTTGAGGT CAGGAGTTGGAGACCAGCCTGGCCAACATGGTGAAACCTTGTCTCTACAA AAAATACAAAAAAAATCAGCCAGACCTGGTGGTGCACACCTGTAATCCCA ATTACTCGGGAGGCTTAAGCAGGAGAATTTCTTGAACCCCAGAAGTGGAG ATTGCAGTGAGCTGAGATTGTGCTACTGCACTCCAGCCTGGGTAAGATAG TGAGACTCCATCTCAAAAAAATAAAAGAAAATTTTTGTTACATATTAAAT GAGTCATCTTTGCTGAAAAGAATAAGATTGCAGCCTGGGCCTGTTGACTC ATGC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02280.hp2 HG02109.hp1 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	2	412	0.0049	353	c.59- others(368): Show c.59-3212_59-3211insAGTGGATCATTTGAGGTCAGGAGTTGGAGA CCAGCCTGGCCAACATGGTGAAACCTTGTCTCTACAAAAAATACAAAAAA AATCAGCCAGACCTGGTGGTGCACACCTGTAATCCCAATTACTCGGGAGG CTTAAGCAGGAGAATTTCTTGAACCCCAGAAGTGGAGATTGCAGTGAGCT GAGATTGTGCTACTGCACTCCAGCCTGGGTAAGATAGTGAGACTCCATCT CAAAAAAATAAAAGAAAATTTTTGTTACATATTAAATGAGTCATCTTTGC TGAAAAGAATAAGATTGCAGCCTGGGCCTGTTGACTCATGCCTGTAATCC CAGCACTTTGGGAGGCTGAGGTG	PTCRA	ENSG00000171611.10	transcript	ENST00000304672.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
PTPN9_chr15_75458251_75584315	75481479	A A	AGGTGAGG others(346): Show AGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCAGCCCGGCCAGCCACCCCGTCCGGGAGGGAGATGGGGGGGTCAGCCC CCCCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTAGGGGGGTCAGCCC CCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCT CCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCAGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTC CAGGAGGGAGGTGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTGTCCG GGAG	intron_variant intron_variant	MODIFIER	HG02165.hp2 NA19030.hp2 HG02165.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0020 a0001c0001t0002 a0001c0001t0020	a0001c0001t0002g0290 a0001c0001t0020g0317 a0001c0001t0002g0290 a0001c0001t0020g0317	2	326	0.0061	353	c.106 others(372): Show c.1063-1566_1063-1565insCTCCCGGACAGGGCGGCTGGCCGGGC GGGGGGCTGACCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCAG AGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCAC CTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCTACCTCCCT CCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATCTCCCT CCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGG GGCGGCCGGGCAGAGGCGCCCCTCACC	PTPN9	ENSG00000169410.11	transcript	ENST00000618819.5	protein_coding	8/12			chr15	TogoVar
PTPN9_chr15_75458251_75584315	75481624	C C	CCCACCCG others(346): Show CCCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTAGGGGGGTCAGCCCC CCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTC CGCCCAGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCAGCC GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCC AGGAGGGAGGTGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTGTCCGG GAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCCAGCCGCCCCGTCTGGG AGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCT	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0108 a0001c0001t0005g0108	1	326	0.0031	353	c.106 others(372): Show c.1063-1711_1063-1710insAGAGGGGCTCCTCACTTCCCAGTAGG GGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGG GCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGG CGGGGGGCTGACCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCA GAGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCA CCTCCCAGACGGGGCGGCTGGCTGGGCGGAGGGCTGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCTACCTCCC TCCCGGACGGGGCGGCTGGCCGGGTGG	PTPN9	ENSG00000169410.11	transcript	ENST00000618819.5	protein_coding	8/12			chr15	TogoVar
PTPN9_chr15_75458251_75584315	75481624	C C	CCCACCCG others(346): Show CCCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTAGGGGGGTCAGCCCC CCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTC CGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCAGCC GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCC AGGAGGGAGGTGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTGTCCGG GAGGGAGGTGGGGGGGTCAGCCCTCCGCCCAGCCAGCCGCCCCGTCTGGG AGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCT	intron_variant intron_variant	MODIFIER	HG02165.hp1 NA18943.hp2 NA18947.hp2 others(2): Show HG02165.hp1 NA18943.hp2 NA18947.hp2 NA18950.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0018 a0001c0001t0005 a0001c0001t0018	a0001c0001t0005g0111 a0001c0001t0005g0112 a0001c0001t0005g0114 others(2): Show a0001c0001t0005g0111 a0001c0001t0005g0112 a0001c0001t0005g0114 a0001c0001t0005g0117 a0001c0001t0018g0118	5	326	0.0153	353	c.106 others(372): Show c.1063-1711_1063-1710insAGAGGGGCTCCTCACTTCCCAGTAGG GGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCTGG GCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGG CGGGGGGCTGACCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCA GAGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCA CCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCTACCTCCC TCCCGGACGGGGCGGCTGGCCGGGTGG	PTPN9	ENSG00000169410.11	transcript	ENST00000618819.5	protein_coding	8/12			chr15	TogoVar
PTPN9_chr15_75458251_75584315	75481624	C C	CCCACCCG others(346): Show CCCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTAGGGGGGTCAGCCCC CCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTC CGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCAGCC GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCC AGGAGGGAGGTGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTGTCCGG GAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCCAGCCGCCCCGTCTGGG AGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00438.hp1 HG00544.hp1 others(124): Show HG00280.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00609.hp2 HG00621.hp1 HG01106.hp2 HG01109.hp1 HG01167.hp1 HG01169.hp1 HG01358.hp1 HG01358.hp2 HG01496.hp1 HG01891.hp1 HG01928.hp2 HG02004.hp1 HG02027.hp2 HG02055.hp1 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02155.hp1 HG02155.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02523.hp1 HG02572.hp1 HG02615.hp1 HG02622.hp2 HG02647.hp1 HG02698.hp2 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03491.hp1 HG03492.hp2 HG03579.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG04115.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18939.hp1 NA18943.hp1 NA18944.hp2 NA18945.hp2 NA18948.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18962.hp1 NA18963.hp2 NA18966.hp1 NA18968.hp2 NA18971.hp1 NA18974.hp1 NA18977.hp1 NA18979.hp1 NA18980.hp2 NA18985.hp2 NA18986.hp2 NA18989.hp2 NA18990.hp1 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp2 NA19012.hp1 NA19043.hp2 NA19054.hp1 NA19057.hp1 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19067.hp1 NA19070.hp1 NA19074.hp1 NA19077.hp1 NA19080.hp2 NA19081.hp1 NA19084.hp1 NA19086.hp2 NA19088.hp1 NA19090.hp1 NA20129.hp1 NA20752.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(16): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0002t0001 a0001c0005t0003	a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0046 others(124): Show a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0119 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0175 a0001c0001t0003g0001 a0001c0001t0003g0006 a0001c0001t0003g0010 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0004g0129 a0001c0001t0005g0040 a0001c0001t0005g0099 a0001c0001t0005g0102 a0001c0001t0005g0103 a0001c0001t0005g0104 a0001c0001t0005g0105 a0001c0001t0005g0106 a0001c0001t0005g0107 a0001c0001t0005g0109 a0001c0001t0005g0110 a0001c0001t0005g0115 a0001c0001t0005g0116 a0001c0001t0005g0146 a0001c0001t0005g0147 a0001c0001t0005g0148 a0001c0001t0015g0219 a0001c0001t0015g0256 a0001c0001t0015g0266 a0001c0001t0017g0152 a0001c0001t0017g0162 a0001c0001t0018g0095 a0001c0001t0019g0056 a0001c0001t0022g0027 a0001c0001t0023g0028 a0001c0001t0024g0034 a0001c0001t0025g0033 a0001c0001t0026g0039 a0001c0001t0027g0094 a0001c0001t0029g0084 a0001c0001t0030g0085 a0001c0001t0031g0088 a0001c0002t0001g0173 a0001c0002t0001g0174 a0001c0005t0003g0016	127	326	0.3896	353	c.106 others(372): Show c.1063-1711_1063-1710insAGAGGGGCTCCTCACTTCCCAGTAGG GGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGG GCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGG CGGGGGGCTGACCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCA GAGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCA CCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCTACCTCCC TCCCGGACGGGGCGGCTGGCCGGGTGG	PTPN9	ENSG00000169410.11	transcript	ENST00000618819.5	protein_coding	8/12			chr15	TogoVar
RAMACL_chr6_166578009_166591678	166581999	A A	ACAGGGAG others(346): Show ACAGGGAGAGGTGAGATGGGGTGGGACGCACACTGGGCAGGTGGGCTGGG CAGGAGGGCACAGGGAGAGCTGAGATGGGGTGGGACGTCCACTGGGCAGG TGGGCTGGGCAGGAGGGCCCAGGGAGAGGTGAGATGGGGTGGGACGCCCA CTGGGCAGGTGGGCTGGGCAGGAGGGCCCAGGGAGAGGTGAGATGGGGTG GGACGCCCACTGGGCAGGTGGGCTGGGCAGGAGGGCACAGGGAGAGGTGA GATGGGGTGGGACGTCCACTGGGCAGGTGGGCTGGGCAGGAGGGCACAGG GAGAGGTGAGATGGGGTGGGACGCACACTGGGCAGGTGGGCTGGGCAGAG GGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	442	0.0023	353	c.41 others(364): Show c.4121_*4122insGGCCCTCTGCCCAGCCCACCTGCCCAGTGTGCGT CCCACCCCATCTCACCTCTCCCTGTGCCCTCCTGCCCAGCCCACCTGCCC AGTGGACGTCCCACCCCATCTCACCTCTCCCTGTGCCCTCCTGCCCAGCC CACCTGCCCAGTGGGCGTCCCACCCCATCTCACCTCTCCCTGGGCCCTCC TGCCCAGCCCACCTGCCCAGTGGGCGTCCCACCCCATCTCACCTCTCCCT GGGCCCTCCTGCCCAGCCCACCTGCCCAGTGGACGTCCCACCCCATCTCA GCTCTCCCTGTGCCCTCCTGCCCAGCCCACCTGCCCAGTGTGCGTCCCAC CCCATCTCACCTCTCCCTG	RAMACL	ENSG00000235272.3	transcript	ENST00000444122.3	protein_coding		1009		chr6	TogoVar
RELB_chr19_44996464_45043192	45038561	T T	TAAAAAAT others(346): Show TAAAAAATGAGACCGGGTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAAGCGGGTGGATCATGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG04115.hp2 HG02257.hp1 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0366 a0001c0001t0002g0036 a0001c0001t0001g0366 a0001c0001t0002g0036	2	382	0.0052	353	c.77 others(362): Show c.771_*772insAAAAAATGAGACCGGGTTGGCCGGGCGCGGTGGCTC ACGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGCGGGTGGATCATGAGG TCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACT AAAAATACAAAAAATTAGCCGGGCGCAGTGGCGGGCGCCTGTAGTCCCAG CTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGC TTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCG ACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAA	RELB	ENSG00000104856.15	transcript	ENST00000221452.13	protein_coding		370		chr19	TogoVar
RLF_chr1_40156387_40245921	40212895	T T	TCCAGATG others(346): Show TCCAGATGTAGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTCTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCA GGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCG GGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGG CGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGG TTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGC CCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCC CGGC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0251 a0002c0002t0001g0251	1	338	0.0030	353	c.811 others(370): Show c.811-9666_811-9665insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGG ACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCCCAGATGTAGTTT	RLF	ENSG00000117000.9	transcript	ENST00000372771.5	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
RNF139_chr8_124469880_124493618	124483113	A A	AATATATA others(346): Show AATATATATATTTAAATATATATATCTTTAAATATGTATATTTAAATTAT ATAATTTAAATATATATTAATATACATATTTTAATATATATAATTTAATA TATATCTTTAAATATATATTAATATATATTTAAATATATATTAATATATA TTTAAAGATATATATTAAATTATATATATTAAAATATGTATATTAATATA TATTTAAATTATATAATTTAAATATACATATTTAAAGATATATATATTTA AATATATATATTTTTAATATATATATTTTTAAATATATATATTTATATAT ATATTTTTATATATATATATTTATATATATATTTTTAAATATATATATAT ATTT	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	408	0.0025	353	c.182 others(370): Show c.182-2703_182-2702insTATATATATCTTTAAATATGTATATTTA AATTATATAATTTAAATATATATTAATATACATATTTTAATATATATAAT TTAATATATATCTTTAAATATATATTAATATATATTTAAATATATATTAA TATATATTTAAAGATATATATTAAATTATATATATTAAAATATGTATATT AATATATATTTAAATTATATAATTTAAATATACATATTTAAAGATATATA TATTTAAATATATATATTTTTAATATATATATTTTTAAATATATATATTT ATATATATATTTTTATATATATATATTTATATATATATTTTTAAATATAT ATATATATTTATATATATATTTAAA	RNF139	ENSG00000170881.5	transcript	ENST00000303545.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr8	TogoVar
RNF139_chr8_124469880_124493618	124483113	A A	AATATATA others(346): Show AATATATATATTTAAATATATATATTTTTAAATATGTATATTTAAATTAT ATAATTTAAATATATATTAATATACATATTTTAATATATATAATTTAATA TATATCTTTAAATATATATATTAATATATATATATTAATATATATATTTA AAGATATATATTAAATTATATATATTAAAATATGTATATTAATATATATT TAAATTATATAATTTAAATATACATATTTAAAAATATATATATTTAAATA TATATATTTTTAATATATATATTTTTAAATATATATATATTTATATATAT ATTTTTAAATATATATATATTTATATATATATTTTTAAATATATATATAT ATTT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0217 a0001c0002t0001g0217	1	408	0.0025	353	c.182 others(370): Show c.182-2703_182-2702insTATATATATTTTTAAATATGTATATTTA AATTATATAATTTAAATATATATTAATATACATATTTTAATATATATAAT TTAATATATATCTTTAAATATATATATTAATATATATATATTAATATATA TATTTAAAGATATATATTAAATTATATATATTAAAATATGTATATTAATA TATATTTAAATTATATAATTTAAATATACATATTTAAAAATATATATATT TAAATATATATATTTTTAATATATATATTTTTAAATATATATATATTTAT ATATATATTTTTAAATATATATATATTTATATATATATTTTTAAATATAT ATATATATTTATATATATATTTAAA	RNF139	ENSG00000170881.5	transcript	ENST00000303545.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr8	TogoVar
RNF139_chr8_124469880_124493618	124483113	A A	AATATATA others(346): Show AATATATATATTTAAATATATATATTTTTAAATATGTATATTTAAATTAT ATAATTTAAATATATATTAATATACATATTTTAATATATATAATTTAATA TATATCTTTAAATATATATATTTAAAGATATATATTAAATTATATATATT AAAATATGTATATTAATATATATTTAAATTATATAATTTAAATATACATA TTTAAAAATATATATATTTAAATATATATATTTTTAATATATATATTTTT AAATATATATATATTTATATATATATTTTTATATATATATATTTATATAT ATATTTTTATATATATATATTTATATATATATTTTTAAATATATATATAT ATTT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0176 a0001c0002t0002g0176	1	408	0.0025	353	c.182 others(370): Show c.182-2703_182-2702insTATATATATTTTTAAATATGTATATTTA AATTATATAATTTAAATATATATTAATATACATATTTTAATATATATAAT TTAATATATATCTTTAAATATATATATTTAAAGATATATATTAAATTATA TATATTAAAATATGTATATTAATATATATTTAAATTATATAATTTAAATA TACATATTTAAAAATATATATATTTAAATATATATATTTTTAATATATAT ATTTTTAAATATATATATATTTATATATATATTTTTATATATATATATTT ATATATATATTTTTATATATATATATTTATATATATATTTTTAAATATAT ATATATATTTATATATATATTTAAA	RNF139	ENSG00000170881.5	transcript	ENST00000303545.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr8	TogoVar
RPS6KA2_chr6_166404364_166632251	166581999	A A	ACAGGGAG others(346): Show ACAGGGAGAGGTGAGATGGGGTGGGACGCACACTGGGCAGGTGGGCTGGG CAGGAGGGCACAGGGAGAGCTGAGATGGGGTGGGACGTCCACTGGGCAGG TGGGCTGGGCAGGAGGGCCCAGGGAGAGGTGAGATGGGGTGGGACGCCCA CTGGGCAGGTGGGCTGGGCAGGAGGGCCCAGGGAGAGGTGAGATGGGGTG GGACGCCCACTGGGCAGGTGGGCTGGGCAGGAGGGCACAGGGAGAGGTGA GATGGGGTGGGACGTCCACTGGGCAGGTGGGCTGGGCAGGAGGGCACAGG GAGAGGTGAGATGGGGTGGGACGCACACTGGGCAGGTGGGCTGGGCAGAG GGCC	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0214 a0001c0001t0003g0214	1	244	0.0041	353	c.100 others(372): Show c.100-43216_100-43215insGGCCCTCTGCCCAGCCCACCTGCCCA GTGTGCGTCCCACCCCATCTCACCTCTCCCTGTGCCCTCCTGCCCAGCCC ACCTGCCCAGTGGACGTCCCACCCCATCTCACCTCTCCCTGTGCCCTCCT GCCCAGCCCACCTGCCCAGTGGGCGTCCCACCCCATCTCACCTCTCCCTG GGCCCTCCTGCCCAGCCCACCTGCCCAGTGGGCGTCCCACCCCATCTCAC CTCTCCCTGGGCCCTCCTGCCCAGCCCACCTGCCCAGTGGACGTCCCACC CCATCTCAGCTCTCCCTGTGCCCTCCTGCCCAGCCCACCTGCCCAGTGTG CGTCCCACCCCATCTCACCTCTCCCTG	RPS6KA2	ENSG00000071242.12	transcript	ENST00000265678.9	protein_coding	1/20			chr6	TogoVar
RTN4IP1_chr6_106565771_106634498	106589237	G G	GGAGGAGG others(346): Show GGAGGAGGGAGGAGGAGGGAGGGGGAGGGAGGAGGAGGGAGGGGGAGGGA GGAGGAGGGAGGGGGAGGGAGGAGGAGGGAGGGGGAGGAGGGAGGGAGGG GGAGGGAGGGAGGAGGAGGGAGGGAGGAGGAGGGAGGGGGAGGAGGGAGG GGGAGGAGGGAGGGGGAGGGGGAGGAGGGAGGGGGAGAAGGGGGAGAAGA AGGAGAAGAAGGAGAAGAGGAAGAGGAAGAAGAGGAAGAGGAAGGAGGAG AAGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGA GGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGAAGAAGGAGGAGG AGAA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0231 a0001c0002t0001g0231	1	396	0.0025	353	c.807 others(370): Show c.807-1376_807-1375insTTCTCCTCCTCCTTCTTCTCCTCCTCCT TCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCC TCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTTCCTCTTCCTCTTCTT CCTCTTCCTCTTCTCCTTCTTCTCCTTCTTCTCCCCCTTCTCCCCCTCCC TCCTCCCCCTCCCCCTCCCTCCTCCCCCTCCCTCCTCCCCCTCCCTCCTC CTCCCTCCCTCCTCCTCCCTCCCTCCCCCTCCCTCCCTCCTCCCCCTCCC TCCTCCTCCCTCCCCCTCCCTCCTCCTCCCTCCCCCTCCCTCCTCCTCCC TCCCCCTCCCTCCTCCTCCCTCCTC	RTN4IP1	ENSG00000130347.13	transcript	ENST00000369063.8	protein_coding	6/8			chr6	TogoVar
RTN4IP1_chr6_106565771_106634498	106589237	G G	GGAGGAGG others(346): Show GGAGGAGGGAGGGGGAGGGAGGGGGAGGGAGGAGGAGGGAGGGGGAGGGA GGAGGAGGGAGGGGGAGGGAGGAGGAGGGAGGGGGAGGGAGGAGGAGGGA GGGGGAGGAGGGAGGGAGGGGGAGGGAGGGAGGAGGAGGGAGGGGGAGGA GGGAGGGGGAGGAGGGAGGGGGAGGAGGGAGGGGGAGAAGGGGGAGAAGA AGGAGAAGAAGGAGAAGAGGAAGAGGAAGAAGAGGAAGAGGAAGGAGGAG AAGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGA GGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGAAGAAGGAGGAGG AGAA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03516.hp2 HG02717.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0319 a0001c0001t0001g0321 a0001c0001t0001g0319 a0001c0001t0001g0321	2	396	0.0051	353	c.807 others(370): Show c.807-1376_807-1375insTTCTCCTCCTCCTTCTTCTCCTCCTCCT TCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCC TCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTTCCTCTTCCTCTTCTT CCTCTTCCTCTTCTCCTTCTTCTCCTTCTTCTCCCCCTTCTCCCCCTCCC TCCTCCCCCTCCCTCCTCCCCCTCCCTCCTCCCCCTCCCTCCTCCTCCCT CCCTCCCCCTCCCTCCCTCCTCCCCCTCCCTCCTCCTCCCTCCCCCTCCC TCCTCCTCCCTCCCCCTCCCTCCTCCTCCCTCCCCCTCCCTCCTCCTCCC TCCCCCTCCCTCCCCCTCCCTCCTC	RTN4IP1	ENSG00000130347.13	transcript	ENST00000369063.8	protein_coding	6/8			chr6	TogoVar
SBSPON_chr8_73059543_73098172	73067663	A A	AGGCTGGG others(346): Show AGGCTGGGGTAGGAGGATTGCTTGAGCCCAGGAGCTGGAGGCTGCAGTGA GCCGTGATCTCACCGCTGCACTTCAGCCTAGGTGACAGAGTGAAACCCTG TCTCAAAAAAAAAAAAAAAAAATTATTTATTATTTGTAATGTACTTGAAA ACTGTTATCTCCTTCCTTCCTTCCTCTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAGACAG GGTCTCCCTCTGCCGCTTAGGCTGCGGTGCAGTGGCACAATCATGGCTCA CTGCAGCCTCTAATTCTTGGGCTCAAGCAGTCCTCCCACCCCAGCCTCCA AGGT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0007 a0003c0003t0007	a0003c0003t0007g0058 a0003c0003t0007g0058	1	414	0.0024	353	c.678 others(368): Show c.678-206_678-205insACCTTGGAGGCTGGGGTGGGAGGACTGCTT GAGCCCAAGAATTAGAGGCTGCAGTGAGCCATGATTGTGCCACTGCACCG CAGCCTAAGCGGCAGAGGGAGACCCTGTCTAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGA GGAAGGAAGGAAGGAGATAACAGTTTTCAAGTACATTACAAATAATAAAT AATTTTTTTTTTTTTTTTTTGAGACAGGGTTTCACTCTGTCACCTAGGCT GAAGTGCAGCGGTGAGATCACGGCTCACTGCAGCCTCCAGCTCCTGGGCT CAAGCAATCCTCCTACCCCAGCC	SBSPON	ENSG00000164764.11	transcript	ENST00000297354.7	protein_coding	4/4			chr8	TogoVar
SCAMP1_chr5_78355617_78485739	78430203	T T	TTGTTTAT others(346): Show TTGTTTATAAATACTGTGTTTATAAATACTGTATTTATTTATAAATACTG TATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATA AATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTT ATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATAC TGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTA TAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTAT TTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAAT ACTG	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	332	0.0030	353	c.632 others(370): Show c.632+8244_632+8245insGTTTATAAATACTGTGTTTATAAATACT GTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTAT AAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATT TATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATA CTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTT ATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTA TTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAA TACTGTATTTATTTATAAATACTGT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCFD2_chr4_52867982_53371061	53312464	T T	TGAAATAG others(346): Show TGAAATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGG AGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCT AACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCG TAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGA ATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCAC TGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA GAAA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0014 a0003c0008t0014	a0003c0008t0014g0145 a0003c0008t0014g0145	1	162	0.0062	353	c.113 others(372): Show c.1135+1171_1135+1172insTTTCTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCTATTTC	SCFD2	ENSG00000184178.17	transcript	ENST00000401642.8	protein_coding	3/8			chr4	TogoVar
SDCBP_chr8_58548261_58587858	58584510	C C	CAAAAGTT others(346): Show CAAAAGTTGGGAGACAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	388	0.0026	353	c.27 others(364): Show c.2770_*2771insAAAAGTTGGGAGACAGGGCCGGGCGCGGTGGCTC ACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGG TCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACT AAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAG CTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGC TTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGC GAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAA	SDCBP	ENSG00000137575.12	transcript	ENST00000260130.9	protein_coding		1653		chr8	TogoVar

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