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
MYL2_chr12_110905845_110925579	110905890	A A	ATTATATA others(386): Show ATTATATATAATATATATTATATTATATATAATATATATTATATATAATA TATATTATATATAATATATATTATATTATATAATATATATTATATATAAT ATATATTATATATAATATAATATATATTATATATAATATATATTATATAA TATAATATATATTATATATAATATATATTATATTATATATAATATATATT ATATATAATATATATTATATATAATATATATTATATAAAATATATATTAT ATTATATATAATATATATTATATTATATATAAAATATATTATATAAAATA TATATTATATTATATATAATATATATTATATAAAATATATATTATATTAT ATATAATATATATTATATAAAATATATATTATATTATATAATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp2 NA18906.hp2 HG03130.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	2	359	0.0056	393	c.51 others(404): Show c.5186_*5187insATATTATATAATATAATATATATTTTATATAATA TATATTATATATAATATAATATATATTTTATATAATATATATTATATATA ATATAATATATATTTTATATAATATATTTTATATATAATATAATATATAT TATATATAATATAATATATATTTTATATAATATATATTATATATAATATA TATTATATATAATATATATTATATATAATATAATATATATTATATATAAT ATATATTATATTATATAATATATATTATATATAATATATATTATATTATA TATAATATATATTATATATAATATATATTATATAATATAATATATATTAT ATATAATATATATTATATATAATATATATTATATATAATATAATATATAT TATATATAA	MYL2	ENSG00000111245.17	transcript	ENST00000228841.15	protein_coding		4954		chr12	TogoVar
MYL2_chr12_110905845_110925579	110905917	A A	ATATATAA others(386): Show ATATATAATATATATTATATATAATATATTATATTATATATAATATATAT TATATAAAATATATATTATATTATATATAATATATATTATATAAAATATA TATTATATTATATATAATATATATTATATAAAATATATATTATATTATAT ATAATATATATTATATAAAATATTATTATATTATATATAATATATATTAT ATAAAATATATATTATATTATATATATATATATTATATAAAATATATATT ATATTATATAATATATATTATATAAAATATATATTATATTATATAATATA TATTTTATAAAATATATATTATATTATATAATATATATTTTATAAAATAT ATATTATATTATATAATATATATTATATAAAATATATATTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	117	0.0085	393	c.51 others(404): Show c.5159_*5160insATATAATATATATTTTATATAATATATATTATAT AATATAATATATATTTTATAAAATATATATTATATAATATAATATATATT TTATAAAATATATATTATATAATATAATATATATTTTATATAATATATAT TATATAATATAATATATATTTTATATAATATATATATATATAATATAATA TATATTTTATATAATATATATTATATATAATATAATAATATTTTATATAA TATATATTATATATAATATAATATATATTTTATATAATATATATTATATA TAATATAATATATATTTTATATAATATATATTATATATAATATAATATAT ATTTTATATAATATATATTATATATAATATAATATATTATATATAATATA TATTATATA	MYL2	ENSG00000111245.17	transcript	ENST00000228841.15	protein_coding		4927		chr12	TogoVar
MYO5B_chr18_49817789_50200147	50183326	T T	TAATATAT others(386): Show TAATATATATATTAATATATATATAATATATATAATATATATAATATATA TAATATATATATAATATATATAATATATATATAATATATAATATATATAT ATAATATATAATATATATATATAATATATATATTATATATATATAATATA TATATTATATATATAATATATATATTATATATATAATATATATATTATAT ATATAATATATATATTATATATATATATTATATATTATATATATAATATA TATATTATATATATAATATATATATAATATATATATTATATATTTATATA TATAATATATATATAATATATATATAATATATATATTATATATATAATAT ATATAATATATATATATTATATATATAATATATATATATAATAC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0214 a0001c0001t0006g0214	1	235	0.0043	393	c.27+ others(410): Show c.27+11440_27+11441insGTATTATATATATATATTATATATATAA TATATATATATTATATATATTATATATATAATATATATATTATATATATA TTATATATATATTATATATATAAATATATAATATATATATTATATATATA TTATATATATAATATATATATTATATATATAATATATAATATATATATAT AATATATATATTATATATATAATATATATATTATATATATAATATATATA TTATATATATAATATATATATTATATATATATAATATATATATTATATAT ATATATTATATATTATATATATATATTATATATTATATATATATTATATA TATTATATATATATTATATATATTATATATATTATATATATTATATATAT ATTAATATATATATT	MYO5B	ENSG00000167306.21	transcript	ENST00000285039.12	protein_coding	1/39			chr18	TogoVar
NME4_chr16_392199_405754	397707	T T	TGTGGGGG others(386): Show TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGG GGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG TGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGGTGGGGGGGGTGAGGGA GTCGGGTGGGGGTGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGT GGGGGGGGTGAGGGAGTTGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	157	0.0064	393	c.91+ others(406): Show c.91+432_91+433insGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGG GTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGG GGGGTGGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGGTG GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTTGGG GGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGTGGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTG GGGGTGGGGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NME4_chr16_392199_405754	397707	T T	TGTGGGGG others(386): Show TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGG GGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG TGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGGTGAGGGA GTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTG GGGGGGGTGAGGGAGTTGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGG	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	157	0.0064	393	c.91+ others(406): Show c.91+432_91+433insGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGG GTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGG GGGGTGGGGGGGTGGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTTGGGG GGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGTGGGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTG GGGGTGGGGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NOC4L_chr12_132139457_132157468	132149004	C C	CACACCAC others(386): Show CACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACC ACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCC CTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAATC CCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCG GTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGT GCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCGGCC GCCTCGCTCATACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCG CTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCG	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0003 a0001c0003t0001g0003	1	283	0.0035	393	c.901 others(408): Show c.901+109_901+110insACACCACACCCCTAATCCCCTCGGTGAGTG CCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCG CCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGC TCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACAC CACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACC CCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAAT CCCCTCGGTGAGTGCGGCCGCCTCGCTCATACCACACCCCTAATCCCCTC GGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAG TGCCGCCGCCTCG	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14			chr12	TogoVar
NOC4L_chr12_132139457_132157468	132149006	T T	TACCACAC others(386): Show TACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCAC ACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCT AATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCC CTCGGTGAGTGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAG TGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGC CGCCTCGCTCCTACCACACCCCTAATCCCCTTGGTGAGTGCCGCCGCCTC ACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCAC ACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCAC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	166	0.0060	393	c.901 others(408): Show c.901+149_901+150insGCTCACACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCC GCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCTCG CTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACA CCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCTACCACAC CCCTAATCCCCTTGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAA TCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCT CGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGA GTGCCGCCGCCTC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOTCH1_chr9_136489433_136551048	136535841	T T	TCACTCAG others(386): Show TCACTCAGGATCCCTCCCGGGGCAATGGGTGCAGGGTGGGAGTGGGTGGA GGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGGGTGCAGGGTGGGAGT GGGTGGAGGGGGGAGCACTCAGGATCCCTCCTGGGGCAATGGGTGCAGGG TGGGAGTGGGTGGAGGGGGGATCACTCAGGATCCCTCCCGGGGCAATGGG TGCAGGGTGGGAGTGGGTGGAGGGGGGATCACTCAGGATCCCTCCCGGGG CAATGGGTGCAGGGTGGGAGTGGGTGGAGGGGGGAGCACTCAGGATCCCT CCCGGGGCAATGGGTGCAGGGTGGGAGTGGGTGGAGGGGGGAGCACTCAG GATCCCTCCTGGGGCAATGGGTGCAGGGTGGGTGGAGAGGGGAG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00642.hp2 others(19): Show HG00140.hp1 HG00323.hp1 HG00642.hp2 HG00735.hp2 HG01070.hp2 HG01081.hp1 HG01109.hp2 HG01123.hp2 HG01175.hp1 HG01175.hp2 HG01261.hp2 HG01884.hp1 HG01975.hp1 HG01978.hp2 HG01981.hp2 HG02293.hp1 HG02300.hp1 HG02683.hp2 HG02818.hp2 HG03710.hp1 HG04115.hp2 NA20752.hp2	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0002 a0001c0006 a0001c0007 others(6): Show a0001c0002 a0001c0006 a0001c0007 a0001c0009 a0001c0014 a0001c0020 a0001c0037 a0004c0067 a0005c0066	a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 others(9): Show a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0006t0002 a0001c0006t0004 a0001c0007t0006 a0001c0009t0002 a0001c0014t0002 a0001c0020t0002 a0001c0037t0002 a0004c0067t0009 a0005c0066t0002	a0001c0002t0004g0107 a0001c0002t0005g0106 a0001c0002t0005g0113 others(19): Show a0001c0002t0004g0107 a0001c0002t0005g0106 a0001c0002t0005g0113 a0001c0002t0005g0115 a0001c0002t0005g0116 a0001c0002t0005g0130 a0001c0002t0006g0044 a0001c0002t0006g0117 a0001c0002t0006g0118 a0001c0006t0002g0110 a0001c0006t0004g0059 a0001c0006t0004g0102 a0001c0007t0006g0104 a0001c0007t0006g0111 a0001c0007t0006g0114 a0001c0009t0002g0103 a0001c0014t0002g0105 a0001c0020t0002g0058 a0001c0020t0002g0108 a0001c0037t0002g0119 a0004c0067t0009g0182 a0005c0066t0002g0109	22	149	0.1477	393	c.140 others(410): Show c.140+8182_140+8183insCTCCCCTCTCCACCCACCCTGCACCCAT TGCCCCAGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACTCCCACCCTG CACCCATTGCCCCGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACTCC CACCCTGCACCCATTGCCCCGGGAGGGATCCTGAGTGATCCCCCCTCCAC CCACTCCCACCCTGCACCCATTGCCCCGGGAGGGATCCTGAGTGATCCCC CCTCCACCCACTCCCACCCTGCACCCATTGCCCCAGGAGGGATCCTGAGT GCTCCCCCCTCCACCCACTCCCACCCTGCACCCATTGCCCCGGGAGGGAT CCTGAGTGCTCCCCCCTCCACCCACTCCCACCCTGCACCCATTGCCCCGG GAGGGATCCTGAGTG	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NRCAM_chr7_108142649_108461436	108164029	G G	GTGAGAGG others(386): Show GTGAGAGGTCATACCGGGTGGGGTGGGGTAATGAGAGGTCATACCGGGTG GGGTGGCGGTAATGAGAGGTCATACCGGGTGGGGTGGGGTAATGAGAGGT CATACCAGGTGGGGTGGGGTAGTGAGAGGTCATACCAGGTGGGGTGGGGT AGTGAGAGGTCATACCGGGTGGGGTGGCGGTAATGAGAGGTCATACCGGG TGGGGTGGGGTAGTGAGAGGTCATACCGGGTGGGGTGGGGTAGTGAGAGG TCATACCGGGTGGGGTGGGGTAGTGAGAGGTCATACCGGGTGGGGTGGGG TAGTGAGAGGTCATACCGGGTGGGGTGGCGGTAATGAGAGGTCATACCAG GTGGGGTGGGGTAGTGAGAGGTCATACCGGGTGGGGTGGGGTAA	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	150	0.0067	393	c.346 others(412): Show c.3466+2891_3466+2892insTTACCCCACCCCACCCGGTATGACCT CTCACTACCCCACCCCACCTGGTATGACCTCTCATTACCGCCACCCCACC CGGTATGACCTCTCACTACCCCACCCCACCCGGTATGACCTCTCACTACC CCACCCCACCCGGTATGACCTCTCACTACCCCACCCCACCCGGTATGACC TCTCACTACCCCACCCCACCCGGTATGACCTCTCATTACCGCCACCCCAC CCGGTATGACCTCTCACTACCCCACCCCACCTGGTATGACCTCTCACTAC CCCACCCCACCTGGTATGACCTCTCATTACCCCACCCCACCCGGTATGAC CTCTCATTACCGCCACCCCACCCGGTATGACCTCTCATTACCCCACCCCA CCCGGTATGACCTCTCA	NRCAM	ENSG00000091129.22	transcript	ENST00000379028.8	protein_coding	30/32			chr7	TogoVar
NRP2_chr2_205677501_205803131	205702149	G G	GTTTGGGA others(386): Show GTTTGGGACTATTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTGTTTCACTTGATTTTTAGTAGATTTTATCTCATTTTATTGT TATTTTTTTTTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGT GCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCG CTGCACCCACTAATGTGTCATCTAGCATTAGGTATATCTCCCAATGCTAT CCCTCCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTGTGATATTCCC CTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGA ATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAAT	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0302 a0001c0004t0002g0302	1	347	0.0029	393	c.251 others(410): Show c.251+4444_251+4445insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTGTTTCACTTGATTTTTAGTAGATTTTATCTCATTTT ATTGTTATTTTTTTTTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTA CATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTG GTGCGCTGCACCCACTAATGTGTCATCTAGCATTAGGTATATCTCCCAAT GCTATCCCTCCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTGTGATA TTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAG TGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAATT TTGGGACTATTTTCT	NRP2	ENSG00000118257.17	transcript	ENST00000357785.10	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
NRXN2_chr11_64601174_64728197	64706162	A A	ATATATAA others(386): Show ATATATAATATATATTATATATATAAAGTATATATATAATATATATAATA TATATTATATATATAAAGTATATATATAATATATATAATATATATTATAT ATATAAAGTATATATATAATATATATAATATATATTATATATATAAAGTA TATATATAATATATATAATATATATTATATATAAAGTATATATATAATAT ATATAATATATATTATATATATAAAGTATATATATAATATATATTATATA TATTATATATATAAAGTATATATATAATATATATAATATATATTATATAT ATAAAGTATATATATAATATATATTATATATAAAGTATATATATAATATA TATTATATATATATAAAATATATAATATATATTATATATATAAG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	2	0.5000	393	c.730 others(410): Show c.730+6807_730+6808insCTTATATATATAATATATATTATATATT TTATATATATATAATATATATTATATATATACTTTATATATAATATATAT TATATATATACTTTATATATATAATATATATTATATATATTATATATATA CTTTATATATATAATATATATAATATATATTATATATATACTTTATATAT ATAATATATATTATATATATTATATATATACTTTATATATAATATATATT ATATATATTATATATATACTTTATATATATAATATATATTATATATATTA TATATATACTTTATATATATAATATATATTATATATATTATATATATACT TTATATATATAATATATATTATATATATTATATATATACTTTATATATAT AATATATATTATATA	NRXN2	ENSG00000110076.21	transcript	ENST00000265459.11	protein_coding	2/22			chr11	TogoVar
NRXN2_chr11_64601174_64728197	64706162	A A	ATATATAA others(386): Show ATATATAATATATATTATATATATAAAGTATATATATAATATATATAATA TATATTATATATATAAAGTATATATATAATATATATAATATATATTATAT ATATAAAGTATATATATAATATATATAATATATATTATATATATAAAGTA TATATATAATATATATAATATATATTATATATAAAGTATATATATAATAT ATATAATATATATTATATATATAAAGTATATATATAATATATATTATATA TATTATATATATAAAGTATATATATAATATATATTATATATATTATATAT ATAAAGTATATATATAATATATATTATATATAAAGTATATATATAATATA TATTATATATATATAAAATATATAATATATATTATATATATAAG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	2	0.5000	393	c.730 others(410): Show c.730+6807_730+6808insCTTATATATATAATATATATTATATATT TTATATATATATAATATATATTATATATATACTTTATATATAATATATAT TATATATATACTTTATATATATAATATATATAATATATATTATATATATA CTTTATATATATAATATATATAATATATATTATATATATACTTTATATAT ATAATATATATTATATATATTATATATATACTTTATATATAATATATATT ATATATATTATATATATACTTTATATATATAATATATATTATATATATTA TATATATACTTTATATATATAATATATATTATATATATTATATATATACT TTATATATATAATATATATTATATATATTATATATATACTTTATATATAT AATATATATTATATA	NRXN2	ENSG00000110076.21	transcript	ENST00000265459.11	protein_coding	2/22			chr11	TogoVar
NRXN2_chr11_64601174_64728197	64706162	A A	ATATATAA others(386): Show ATATATAATATATATTATATATATAAAGTATATATATAATATATATAATA TATATTATATATATAAAGTATATATATAATATATATAATATATATTATAT ATATAAAGTATATATATAATATATATAATATATATTATATATATAAAGTA TATATATAATATATATAATATATATTATATATATAAAGTATATATATAAT ATATATTATATATATTATATATATAAAGTATATATATAATATATATTATA TATATTATATATATAAAGTATATATATAATATATATTATATATATTATAT ATATAAAGTATATATATAATATATATTATATATAAAGTATATATATAATA TATATTATATATATAAAATATATAATATATATTATATATATAAG	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0273 a0001c0001t0001g0273	1	2	0.5000	393	c.730 others(410): Show c.730+6807_730+6808insCTTATATATATAATATATATTATATATT TTATATATATAATATATATTATATATATACTTTATATATAATATATATTA TATATATACTTTATATATATAATATATATAATATATATTATATATATACT TTATATATATAATATATATAATATATATTATATATATACTTTATATATAT AATATATATAATATATATTATATATATACTTTATATATATAATATATATT ATATATATTATATATATACTTTATATATATAATATATATTATATATATTA TATATATACTTTATATATATAATATATATTATATATATTATATATATACT TTATATATATAATATATATTATATATATTATATATATACTTTATATATAT AATATATATTATATA	NRXN2	ENSG00000110076.21	transcript	ENST00000265459.11	protein_coding	2/22			chr11	TogoVar
NT5C1A_chr1_39646229_39677107	39664497	T T	TCCTCTCC others(386): Show TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCCT CTCCTCTCCCTCTCCTCTCCCTCTCCTCTCCCTCTCCTCTCCCTCTCCTC TCCCTCTCCTCTCCCTCTCCTCTCCCTCTCCTCTCCCTCTCCTCTCCCTC TCCTCTCCTCTCCTCTCCTCTCCCCTCCCCTCCCACCCTCCCCCTTCCCC TCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCC CTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCC CCCTTCCCCTTCCCTCTCCCCTTCCCCTCCCCTCCCCCTTCCCCTCCCCC TTCCCCTCCCCCTTCCCCTTCCCTCTCCCCTTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0101 a0001c0001t0101	a0001c0001t0101g0245 a0001c0001t0101g0245	1	30	0.0333	393	c.433 others(410): Show c.433+1023_433+1024insGGAGGGGAGGGGAAGGGGAGAGGGAAGG GGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAGGGGAAGGGGA GAGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGG GAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGGGAAG GGGAAGGGGGAGGGGAGGGGAAGGGGGAGGGTGGGAGGGGAGGGGAGAGG AGAGGAGAGGAGAGGAGAGGGAGAGGAGAGGGAGAGGAGAGGGAGAGGAG AGGGAGAGGAGAGGGAGAGGAGAGGGAGAGGAGAGGGAGAGGAGAGGGAG AGGAGAGGGAGAGGAGAGGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NT5C1A_chr1_39646229_39677107	39664497	T T	TCCTCTCC others(386): Show TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCCCCTCCCCTCCCCTCCCCCTCCCCC TCCCCCCCCCTCCCCCCCCCTCCCCCTTCCCCTCCCCCTCCCCCTCCCCC TCCCCCTCCCCCTTCCCCTTCCCTCTCCCCTTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0088 a0001c0001t0088	a0001c0001t0088g0085 a0001c0001t0088g0085	1	30	0.0333	393	c.433 others(410): Show c.433+1023_433+1024insGGAGGGGAGGGGAAGGGGAGAGGGAAGG GGAAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGAAGGGGGAGGGG GGGGGAGGGGGGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NTN5_chr19_48656407_48678017	48669576	T T	TCACCACC others(386): Show TCACCACCACCACCACCACGACCACCATCACCACCACCACCATCATCACC ACCATCACCACCACCATCATCACCATCACCACCACCAACACCACCACCAT CACCATCATCACCACCATCACCACCACCATCATCACCATCACCACCATCA CCACCACCACCACCATCACCATCACCACCACCATCACCATCACCACCACC ACCATCATCACCACCATCACCACCACCATCACCACCATCACCACCACCAC CACCATCACCACCATGACCACCATCATCACCACCATCACCACCATCACCA TCACCACCACCACGACCATCATCACCACCACCACCATCACCACCACCATC ACCACCACCACCATCACCACCACCATCACCACCATCACCACCAC	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0089 a0001c0002t0002g0089	1	118	0.0085	393	c.631 others(408): Show c.631+779_631+780insGTGGTGGTGATGGTGGTGATGGTGGTGGTG ATGGTGGTGGTGGTGATGGTGGTGGTGATGGTGGTGGTGGTGATGATGGT CGTGGTGGTGGTGATGGTGATGGTGGTGATGGTGGTGATGATGGTGGTCA TGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGATG GTGGTGATGATGGTGGTGGTGGTGATGGTGATGGTGGTGGTGATGGTGAT GGTGGTGGTGGTGGTGATGGTGGTGATGGTGATGATGGTGGTGGTGATGG TGGTGATGATGGTGATGGTGGTGGTGTTGGTGGTGGTGATGGTGATGATG GTGGTGGTGATGGTGGTGATGATGGTGGTGGTGGTGATGGTGGTCGTGGT GGTGGTGGTGGTG	NTN5	ENSG00000142233.14	transcript	ENST00000270235.11	protein_coding	2/6			chr19	TogoVar
NXN_chr17_794310_984776	949084	C C	CCCCCCTG others(386): Show CCCCCCTGCCTCCTCCTCTCCCCGCGGCCTCCTCCTCTCCCCCCCTGCCT CCTCCTCTCCCCCTGCCTCCTCCTCTCCCCGCGGCCTCCTCCTCTCCCCC CGGCCTCCTCCTCTCCCCGCGGCCTCCTCCTCTCCCCGCGGCCTCCTCCT CTCCCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCGCGGCCT CCTCCTCTCCCCCGGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCC CGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTC TCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCTGCCTC CTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCGGCCTCCTCCTCT	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0165 a0001c0001t0003g0165	1	235	0.0043	393	c.360 others(412): Show c.360+30234_360+30235insAGAGGAGGAGGCCGGGGGAGAGGAGG AGGCAGGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCAGGGGGGAG AGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCAGG GGGGAGAGGAGGAGGCCGGGGGGAGAGGAGGAGGCCGGGGGGAGAGGAGG AGGCCGGGGGAGAGGAGGAGGCCGCGGGGAGAGGAGGAGGCAGGGGGAGA GGAGGAGGCAGGGGGGAGAGGAGGAGGCCGCGGGGAGAGGAGGAGGCCGC GGGGAGAGGAGGAGGCCGGGGGGAGAGGAGGAGGCCGCGGGGAGAGGAGG AGGCAGGGGGAGAGGAGGAGGCAGGGGGGGAGAGGAGGAGGCCGCGGGGA GAGGAGGAGGCAGGGGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OTOF_chr2_26452203_26483124	26476528	T T	TCCCCCAC others(386): Show TCCCCCACCCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCACCTCCAC CTTCCCCACCCCTTCCCCACCTCCTTCCCCACCCCTTCCCCCACCTCCTT CCCCACCCCTTCCCCCGACCCCTTCCCCACCCCTTCCCCCCACCTCCTTC CCCCACCCCTTCCCCCACCCCTTCCCCCACATCCCCCCACCCCTTCCCCC ACGTCCTTCCCCACCCCTTCCCCACTCCTTCCCCACCCCTTCCCCCACCT CCTTCCCCACCCTCCCACCTCCTTCCCCACCCCTCCCCCACCCCTTCCCC CACCCCTTCCCCCACACCTTCCCCACCCCTTCCCCCACCCCTTCCCCCAC CTCCTTCCCCACCCCCTTCCCCCACGTCCTTCCCCACCCCCTTC	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0165 a0001c0005t0001g0165	1	328	0.0030	393	c.436 others(408): Show c.436-212_436-211insGAAGGGGGTGGGGAAGGACGTGGGGGAAGG GGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGGAAGGGGTGGGGAAGGTG TGGGGGAAGGGGTGGGGGAAGGGGTGGGGGAGGGGTGGGGAAGGAGGTGG GAGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGAAGGAGTGGGGAAGGG GTGGGGAAGGACGTGGGGGAAGGGGTGGGGGGATGTGGGGGAAGGGGTGG GGGAAGGGGTGGGGGAAGGAGGTGGGGGGAAGGGGTGGGGAAGGGGTCGG GGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGG AAGGGGTGGGGAAGGTGGAGGTGGGGAAGGGGTGGGGAAGGAGGTGGGGG AAGGGGGTGGGGG	OTOF	ENSG00000115155.19	transcript	ENST00000339598.8	protein_coding	5/28			chr2	TogoVar
PALD1_chr10_70473767_70573450	70554970	T T	TCCTCCCC others(386): Show TCCTCCCCCTCCCCTCCCCCTCCTCCCCCTCCCCTCCCCCTCCTCCCCCT CCTTCCCTCCCCCTCCTCCCCCTCCCCTCCCCCTCCTCCCCCTCCCCTCC CCCTCCTCCCCCTCCTTCCCTCCCCCTCCTCCCCCTCCTCCCCTCCCCCT CCTCCCCTCCCCCTCCTCCCCCCTCCTCCCCTCCCCCTCCTCCCCCCTCC TCCCCTCCCCCTCCTCCCCCCTCTCCCCCTCCCCTCCCCCTTCCCTCCCC CTCCCCTCCCCCTTCCCTCCCCCTCCCCTCCCCCTCCCCTCCACTCCCCT TCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTTCCCCTCCCCTCCACTCC CCTTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0004 a0004	a0004c0033 a0004c0033	a0004c0033t0005 a0004c0033t0005	a0004c0033t0005g0132 a0004c0033t0005g0132	1	68	0.0147	393	c.226 others(412): Show c.2262+7531_2262+7532insCTCCCCTCCCCCTCCTCCCCCTCCCC TCCCCCTCCTCCCCCTCCTTCCCTCCCCCTCCTCCCCCTCCCCTCCCCCT CCTCCCCCTCCCCTCCCCCTCCTCCCCCTCCTTCCCTCCCCCTCCTCCCC CTCCTCCCCTCCCCCTCCTCCCCTCCCCCTCCTCCCCCCTCCTCCCCTCC CCCTCCTCCCCCCTCCTCCCCTCCCCCTCCTCCCCCCTCTCCCCCTCCCC TCCCCCTTCCCTCCCCCTCCCCTCCCCCTTCCCTCCCCCTCCCCTCCCCC TCCCCTCCACTCCCCTTCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTTC CCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCC	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
PAM16_chr16_4335251_4356321	4344665	A A	AGGGGATT others(386): Show AGGGGATTGTGTGAGAGGGGGGGGTTCCGTGAGAGGAGGGGGTTCCGTGA GAGGAGGGGGTTCTGTGAGAGGAGGGGATTGTGTGAGAGAAGGGGACTGT GTGAGAGGAGGGGGTTCCGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGA CTGTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCTGTGAGAGGAG GGGGTTCTGTGAGGAGGGGGTTCCGTGAGAGGAGGGGATTGTGTGAGAGG AGGGGGTTCTGTGAGAGAAGGGGACTGTGTGAGAGGAGGGGGTTCCGTGA GAGGAGGGGGTTCCGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCT GTGAGAGGAGGGGGTTCCGTGAGAGGAGGGGATTGTGTGAGGGG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03540.hp2 HG02615.hp1 HG03540.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0013 a0002c0002t0001g0021 a0002c0002t0001g0013 a0002c0002t0001g0021	2	338	0.0059	393	c.4-1 others(406): Show c.4-1375_4-1374insCCCCTCACACAATCCCCTCCTCTCACGGAACC CCCTCCTCTCACAGAACCCCCTCCTCTCACAGAACCCCCTCCTCTCACGG AACCCCCTCCTCTCACGGAACCCCCTCCTCTCACACAGTCCCCTTCTCTC ACAGAACCCCCTCCTCTCACACAATCCCCTCCTCTCACGGAACCCCCTCC TCACAGAACCCCCTCCTCTCACAGAACCCCCTCCTCTCACAGAACCCCCT CCTCTCACACAGTCCCCTCCTCTCACAGAACCCCCTCCTCTCACGGAACC CCCTCCTCTCACACAGTCCCCTTCTCTCACACAATCCCCTCCTCTCACAG AACCCCCTCCTCTCACGGAACCCCCTCCTCTCACGGAACCCCCCCCTCTC ACACAATCCCC	PAM16	ENSG00000217930.8	transcript	ENST00000318059.8	protein_coding	1/4			chr16	TogoVar
PAM16_chr16_4335251_4356321	4344665	A A	AGGGGATT others(386): Show AGGGGATTGTGTGAGGGGGGGGGGTTCCGTGAGAGGAGGGGGTTCCGTGA GAGGAGGGGGTTCTGTGAGAGGAGGGGATTGTGTGAGAGAAGGGGACTGT GTGAGAGGAGGGGGTTCCGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGA CTGTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCTGTGAGAGGAG GGGGTTCTGTGAGGAGGGGGTTCCGTGAGAGGAGGGGATTGTGTGAGAGG AGGGGGTTCTGTGAGAGAAGGGGACTGTGTGAGAGGAGGGGGTTCCGTGA GAGGAGGGGGTTCCGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCT GTGAGAGGAGGGGGTTCCGTGAGAGGAGGGGATTGTGTGAGGGG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03453.hp2 HG02451.hp1 HG03453.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0187 a0002c0002t0001g0204 a0002c0002t0001g0187 a0002c0002t0001g0204	2	338	0.0059	393	c.4-1 others(406): Show c.4-1375_4-1374insCCCCTCACACAATCCCCTCCTCTCACGGAACC CCCTCCTCTCACAGAACCCCCTCCTCTCACAGAACCCCCTCCTCTCACGG AACCCCCTCCTCTCACGGAACCCCCTCCTCTCACACAGTCCCCTTCTCTC ACAGAACCCCCTCCTCTCACACAATCCCCTCCTCTCACGGAACCCCCTCC TCACAGAACCCCCTCCTCTCACAGAACCCCCTCCTCTCACAGAACCCCCT CCTCTCACACAGTCCCCTCCTCTCACAGAACCCCCTCCTCTCACGGAACC CCCTCCTCTCACACAGTCCCCTTCTCTCACACAATCCCCTCCTCTCACAG AACCCCCTCCTCTCACGGAACCCCCTCCTCTCACGGAACCCCCCCCCCTC ACACAATCCCC	PAM16	ENSG00000217930.8	transcript	ENST00000318059.8	protein_coding	1/4			chr16	TogoVar
PAM16_chr16_4335251_4356321	4344665	A A	AGGGGATT others(386): Show AGGGGATTGTGTGAGGGGGGGGGTTCCGTGAGAGGAGGGGGTTCCGTGAG AGGAGGGGGTTCTGTGAGAGGAGGGGATTGTGTGAGAGAAGGGGACTGTG TGAGAGGAGGGGGTTCCGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGAC TGTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCTGTGAGAGGAGG GGGTTCTGTGAGGAGGGGGTTCCGTGAGAGGAGGGGATTGTGTGAGAGGA GGGGGTTCTGTGAGAGAAGGGGACTGTGTGAGAGGAGGGGGTTCCGTGAG AGGAGGGGGTTCCGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCTG TGAGAGGAGGGGGTTCCGTGAGAGGAGGGGATTGTGTGAGGGGG	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0079 a0002c0002t0001g0079	1	337	0.0030	393	c.4-1 others(406): Show c.4-1375_4-1374insCCCCCTCACACAATCCCCTCCTCTCACGGAAC CCCCTCCTCTCACAGAACCCCCTCCTCTCACAGAACCCCCTCCTCTCACG GAACCCCCTCCTCTCACGGAACCCCCTCCTCTCACACAGTCCCCTTCTCT CACAGAACCCCCTCCTCTCACACAATCCCCTCCTCTCACGGAACCCCCTC CTCACAGAACCCCCTCCTCTCACAGAACCCCCTCCTCTCACAGAACCCCC TCCTCTCACACAGTCCCCTCCTCTCACAGAACCCCCTCCTCTCACGGAAC CCCCTCCTCTCACACAGTCCCCTTCTCTCACACAATCCCCTCCTCTCACA GAACCCCCTCCTCTCACGGAACCCCCTCCTCTCACGGAACCCCCCCCCTC ACACAATCCCC	PAM16	ENSG00000217930.8	transcript	ENST00000318059.8	protein_coding	1/4			chr16	TogoVar
PDCD6_chr5_266646_319974	318069	T T	TCCCTTGC others(386): Show TCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCACCCTGCACCTCC CCCCTCCCACTCCCCCTCACCTCCCCCCCACTTTCCACCTCCCCCCTCCA CCTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCCCCCTCACCTCCCCC CTCACCCACCACCTCCCGCCCTCACCCTCCACCTCCCCCGCACCCTGCAC CTCCCCCCGCACCCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCCAT CTTTTACCTCCCCCCTCACCCTGCACCTCCCTCTCGCCCTGCACCTCCTC CCTCCCTCTCCCCCTCATCCTGCACCTCCCCCCTCCACGCCCCCTCACCT CCCCCCACCTTCCACCTCCCCCCTCCACCTCCCCCCTCACTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0264 a0001c0001t0001g0264	1	118	0.0085	393	c.35 others(404): Show c.3554_*3555insCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCC TCACCCTGCACCTCCCCCCTCCCACTCCCCCTCACCTCCCCCCCACTTTC CACCTCCCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCC CCCCTCACCTCCCCCCTCACCCACCACCTCCCGCCCTCACCCTCCACCTC CCCCGCACCCTGCACCTCCCCCCGCACCCCTGCACCTCCCACCCTTACCC TGCACCTCCCCCCATCTTTTACCTCCCCCCTCACCCTGCACCTCCCTCTC GCCCTGCACCTCCTCCCTCCCTCTCCCCCTCATCCTGCACCTCCCCCCTC CACGCCCCCTCACCTCCCCCCACCTTCCACCTCCCCCCTCCACCTCCCCC CTCACTTTC	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3096		chr5	TogoVar
PDXK_chr21_43714129_43767299	43741338	G G	GGGGGGGC others(386): Show GGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGG GGGGCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGGGCTCGCGGGGGG GCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCAGGGGGGGC TCGCAGGGGGGCTCGCGGGGGGCTCGCAGGGGGGCTCGCGGGGGGCTGGC GGGGGGCTCGCGGGGGGCTCGCAGGGGGGCTCGCGGGGGGCTCGCGGGGG GCTCGCGGGGGGCTCGCAGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTC GCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGG GGGGCTCGCGGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGC	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	299	0.0033	393	c.143 others(408): Show c.143-300_143-299insGCTCGCGGGGGGCTCGCGGGGGGGCTCGCG GGGGGCTGGCGGGGGGCTCGCGGGGGGGGCTCGCGGGGGGGCTCGCGGGG GGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCAGGGGGGGCTCGCAGGGGG GCTCGCGGGGGGCTCGCAGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCG CGGGGGGCTCGCAGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGG GGCTCGCAGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGC TCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCG GGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGG GGCTCGCGGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PKHD1_chr6_51610299_52092613	51989901	G G	GAGGAAGG others(386): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAG GAAGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAA GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGA AGGAAGGAAAGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAAGAAGGAAGGAAGAAAGGAAGGAAAGAAGGA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0021 a0002c0005t0002g0021	1	41	0.0244	393	c.575 others(414): Show c.5751+20407_5751+20408insTCCTTCTTTCCTTCCTTTCTTCCT TCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCT TCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCT TCTTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTCCCTCCCTCCCTCCTC CCTCCCTCCCTCCTTCCTTCCTTCCCTCCTCCCTCCCTCCCTCCTTCCTT CCTTCCTTCCTTCCTTCCT	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66			chr6	TogoVar
PKHD1_chr6_51610299_52092613	51989901	G G	GAGGAAGG others(386): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAG GAAGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAA GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGA AGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAAGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAAGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAAGAAGGAAGGAAGAAAGGAAGGAAAGA	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0045 a0045	a0045c0025 a0045c0025	a0045c0025t0001 a0045c0025t0001	a0045c0025t0001g0031 a0045c0025t0001g0031	1	41	0.0244	393	c.575 others(414): Show c.5751+20407_5751+20408insTCTTTCCTTCCTTTCTTCCTTCCT TCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTC CTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCTTTCCTTCCTTCCTTCCT TCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTCCCTCCCTCCCTCCTC CCTCCCTCCCTCCTTCCTTCCTTCCCTCCTCCCTCCCTCCCTCCTTCCTT CCTTCCTTCCTTCCTTCCT	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66			chr6	TogoVar
PLCB1_chr20_8127266_8889900	8662120	A A	AATTATAT others(386): Show AATTATATAATTATATATATATAATTATATAATTATATATTATTTATTAT ATAATATATAATTATATAATTATATATTATTTATTATATAATATATAATT ATATAATTATATATTATTTATTATATAATTATATATTATTTATTATATAA TATATAATTATATATTATTTATTATATAATTATATATTATGTATTATATA ATATATAATTATATATTATGTATTATATAATTATATAATTATATATTATT TATTATATAATTATATAATTATATATTATTTATTACATAATTATATATTA TTTATTACATAAGTATATATCACTTATTATATAATTGTATATAATTATTT ATTATATAATTGCATATAATTATTTATTATATAATTGTATATAG	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0040 a0001c0004t0001g0040	1	83	0.0120	393	c.862 others(410): Show c.862+3416_862+3417insATTATATAATTATATATATATAATTATA TAATTATATATTATTTATTATATAATATATAATTATATAATTATATATTA TTTATTATATAATATATAATTATATAATTATATATTATTTATTATATAAT TATATATTATTTATTATATAATATATAATTATATATTATTTATTATATAA TTATATATTATGTATTATATAATATATAATTATATATTATGTATTATATA ATTATATAATTATATATTATTTATTATATAATTATATAATTATATATTAT TTATTACATAATTATATATTATTTATTACATAAGTATATATCACTTATTA TATAATTGTATATAATTATTTATTATATAATTGCATATAATTATTTATTA TATAATTGTATATAG	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	9/31			chr20	TogoVar
PLPP2_chr19_276043_296403	291612	G G	GGGGGGAC others(386): Show GGGGGGACGGCAGCGGCGGGCAGGGGAGCGGCGGGCGGGGCGGGGACGGG GAGGGCAGCAGGGGAGGGGGAGGAGGGGAGGGCGGGGAGGGGAGGGGAGG AGGGAGGGGGAGGGGAGGAGGGAGGGGGGACGGCAGCGGCGGGCAGGGGA GCGGCGGGCAGGGGAGCGGCGGGCGGGGCGGGGAGGAGGGGAGGGAGGGG AAGGGGAGGAGGGGGGGAGGGGAGGGGAGGAAGGCTGGGGACGGCAGCGG CGGGCAGGGGAGCAGCGGGCGGGGCGGGGAGGAGGGGAGGGTTAGGGGCG GGGAGGGGAGGAGGGAGGGGGAGGGAGGAGGGGCGGGGAGGGGAGAGGGG GAGGGGAGGAGGGAGGGGGAGGGGAGGGGGGAGGGGAGGAGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	113	0.0088	393	c.-27 others(402): Show c.-277_-276insTCCCTCCTCCCCTCCCCCCTCCCCTCCCCCTCCCTC CTCCCCTCCCCCTCTCCCCTCCCCGCCCCTCCTCCCTCCCCCTCCCTCCT CCCCTCCCCGCCCCTAACCCTCCCCTCCTCCCCGCCCCGCCCGCTGCTCC CCTGCCCGCCGCTGCCGTCCCCAGCCTTCCTCCCCTCCCCTCCCCCCCTC CTCCCCTTCCCCTCCCTCCCCTCCTCCCCGCCCCGCCCGCCGCTCCCCTG CCCGCCGCTCCCCTGCCCGCCGCTGCCGTCCCCCCTCCCTCCTCCCCTCC CCCTCCCTCCTCCCCTCCCCTCCCCGCCCTCCCCTCCTCCCCCTCCCCTG CTGCCCTCCCCGTCCCCGCCCCGCCCGCCGCTCCCCTGCCCGCCGCTGCC GTCCCCC	PLPP2	ENSG00000141934.10	transcript	ENST00000434325.7	protein_coding		210		chr19	TogoVar
PLPP2_chr19_276043_296403	291612	G G	GGGGGGGA others(386): Show GGGGGGGACGGCAGCGGCGGGCAGGGGAGCGGCGGGCGGGGCGGGGAGGG GAGGGCAGCAGGGGAGGGGGAGGAGGGGAGGGGCGGGGAGGGGAGGGGAG GAGGGAGGGGGAGGGGAGGAGGGAGGGGGGACGGCAGCGGCGGGCAGGGG AGCGGCGGGCAGGGGAGCGGCGGGCGGGGCGGGGAGGAGGGGAGGGAGGG GAAGGAGGAGGGGGGGAGGGGAGGGGAGGAAGGCGGGGACGGCAGCGGCG GGCAGGGGAGCAGCGGGCGGGGCGGGGAGGAGGGGAGGGTTAGGGGCGGG GAGGGGAGGAGGGAGGGGGAGGGGAGGAGGGGCGGGGAGGGGAGAGGGGG GAGGGGAGGAGGGAGGGGGAGGGGAGGGGGGAGGGGAGGAGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18984.hp2 NA19079.hp1 NA18984.hp2 NA19079.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0019 a0002c0002t0001g0019	2	114	0.0175	393	c.-27 others(402): Show c.-277_-276insTCCCTCCTCCCCTCCCCCCTCCCCTCCCCCTCCCTC CTCCCCTCCCCCCTCTCCCCTCCCCGCCCCTCCTCCCCTCCCCCTCCCTC CTCCCCTCCCCGCCCCTAACCCTCCCCTCCTCCCCGCCCCGCCCGCTGCT CCCCTGCCCGCCGCTGCCGTCCCCGCCTTCCTCCCCTCCCCTCCCCCCCT CCTCCTTCCCCTCCCTCCCCTCCTCCCCGCCCCGCCCGCCGCTCCCCTGC CCGCCGCTCCCCTGCCCGCCGCTGCCGTCCCCCCTCCCTCCTCCCCTCCC CCTCCCTCCTCCCCTCCCCTCCCCGCCCCTCCCCTCCTCCCCCTCCCCTG CTGCCCTCCCCTCCCCGCCCCGCCCGCCGCTCCCCTGCCCGCCGCTGCCG TCCCCCC	PLPP2	ENSG00000141934.10	transcript	ENST00000434325.7	protein_coding		210		chr19	TogoVar
PNMA5_chrX_152983824_152999116	152998738	T T	TTTATATA others(386): Show TTTATATATAATATATAATATATATTTATATAAAAATATATTATATATAA TATAATATATATTATATATAATATATATTTATATATAATATAATATATAT TATATATAATATATATTATATATAATATAATATATATTATATATTATATA TTTATATATAATATAATATATATTATATATAATATATATTATATATAATA TAATATATATTATATATAATATATATTTATATATAATATAATATATATTA TATATAATATATATTATATATAATATAATATATATTATATATAAAAATAT ATTTATATATATTATATTATATATAATATATTATATATATTATATTATAT ATAATATATTATATATATTATATATATATAATATATATATTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG03516.hp2 HG02895.hp1 HG02897.hp1 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0008 a0001c0002t0002g0008	3	33	0.0909	393	c.-50 others(404): Show c.-5036_-5035insTATAATATATATATTATATATATATAATATATAT AATATATTATATATAATATAATATATATAATATATTATATATAATATAAT ATATATAAATATATTTTTATATATAATATATATTATATTATATATAATAT ATATTATATATAATATATATTATATTATATATAAATATATATTATATATA ATATATATTATATTATATATAATATATATTATATATAATATATATTATAT TATATATAAATATATAATATATAATATATATTATATTATATATAATATAT ATTATATATAATATATATTATATTATATATAAATATATATTATATATAAT ATATATTATATTATATATAATATATTTTTATATAAATATATATTATATAT TATATATAA	PNMA5	ENSG00000198883.12	transcript	ENST00000535214.6	protein_coding		4623		chrX	TogoVar
PNPLA7_chr9_137454952_137555402	137518184	C C	CCCCCACT others(386): Show CCCCCACTCACTCACTCCACTCTGCTCACTCCATCCCCCACTCACTCACT CCACTCTGTCCACTCCATCCCTCATTCACTCACTCCACTCTGCTCACTCC ATCCCCCACTCACTGACTCCACTCTGTCCACTCCATCCCCCACTCACTCA CTCCACTCTGCTCACTCCATCCCCCACTCACTCATTCCACTCTGTCCACT CCATCCCTCACTCACTCACTCCACTCTGCTCACTCCATCCCCCACTCACT GACTCCACTCCATCCCCCACTCACTCACTCCACTCTGCTCACTCCATCCC CCACTCACTCCACTCTGTCCACTCCATCCCCCGTCACTCACTCCACTCTG CTCACTCCATCCCCCACTCACTCGCTCCACTCTGTCCACTCCAT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG03098.hp1 HG01106.hp2 HG03098.hp1	a0012 a0012	a0012c0019 a0012c0019	a0012c0019t0001 a0012c0019t0001	a0012c0019t0001g0020 a0012c0019t0001g0022 a0012c0019t0001g0020 a0012c0019t0001g0022	2	186	0.0108	393	c.108 others(412): Show c.1084+1340_1084+1732dupATGGAGTGGACAGAGTGGAGCGAGTG AGTGGGGGATGGAGTGAGCAGAGTGGAGTGAGTGACGGGGGATGGAGTGG ACAGAGTGGAGTGAGTGGGGGATGGAGTGAGCAGAGTGGAGTGAGTGAGT GGGGGATGGAGTGGAGTCAGTGAGTGGGGGATGGAGTGAGCAGAGTGGAG TGAGTGAGTGAGGGATGGAGTGGACAGAGTGGAATGAGTGAGTGGGGGAT GGAGTGAGCAGAGTGGAGTGAGTGAGTGGGGGATGGAGTGGACAGAGTGG AGTCAGTGAGTGGGGGATGGAGTGAGCAGAGTGGAGTGAGTGAATGAGGG ATGGAGTGGACAGAGTGGAGTGAGTGAGTGGGGGATGGAGTGAGCAGAGT GGAGTGAGTGAGTGGGG	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	11/34			chr9	TogoVar
PRKCZ_chr1_2045411_2190395	2123408	C C	CGGCTGTA others(386): Show CGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGG GTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGT TAGGGTCACGGCTATAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTG TAGTTAGGGTCATGGTGGTAGTTAGGGTCGTGGTGGTTAGGTTCATGGTG GTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCGT GGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGA TCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTT GGGGTCATGGTGGTAGTTAGGGTCACAGCGATAGTTAGCATCAT	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	214	0.0047	393	c.335 others(412): Show c.335-11852_335-11851insCTGTAGTTAGGGTCATGGTGGTAGTT AGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGT AGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTAGGGTCATGG TGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTC GTGGTGGTTAGGTTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGT CATGGTGGTAGTTAGGGTCGTGGTGGTAGTTAGGGTCACGGCTGTAGTTA GGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTA GTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCACAGC GATAGTTAGCATCATGG	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKG1_chr10_51069487_52303350	51449643	A A	AACAGCAT others(386): Show AACAGCATATCATATATATATATATATATATATATATATATATATATTTT TTTTTTTTTTTTTTTTTTTTTTTTTAAAGATGGAGTCTCGCTCTGTCACC CAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCTGCCTCC CGGGTTCAAGTGATTCTCCTGCTCAGCCTCCCGAGTAGCTTGTATTATAG GCACCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGG GTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTAGTGATCCG CCCACCTCGACCTCCCAAAGTGTTGGGATTACAAGCGTGAGCCACCGTGC CCAGCCAGCATATCATATTTATATTCTGAATTTTCACATATTAG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0064 a0001c0001t0005g0064	1	20	0.0500	393	c.479 others(412): Show c.479-18077_479-18076insGCATATCATATATATATATATATATA TATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGA TGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAATGGCGTGATCTCGGC TCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCTCAGCCTC CCGAGTAGCTTGTATTATAGGCACCCGCCACCATGCCCAGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAA ACTCCTGGCCTAGTGATCCGCCCACCTCGACCTCCCAAAGTGTTGGGATT ACAAGCGTGAGCCACCGTGCCCAGCCAGCATATCATATTTATATTCTGAA TTTTCACATATTAGACA	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
PWWP2B_chr10_132392200_132422859	132392521	A A	AATGGTGA others(386): Show AATGGTGATGGTGATGGTAGTGATGGGGGTGGTGGTAATGGTGATGATGG TGATGGTGATGATGGTGGTGGTGGTGATAATGGTGATGGTGATGGTGGTG GTAATGGTGATGATGGTGATGGTGATGATGATGGTGGTGGTGGTGATAAC GGTGATGGTGATGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGATGG TGATGATGGTGATGGTGATGATGGTGATGGTGATGGTGGTGGTGGTAATG GTGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGGTAGTGGT GATGGGGGTGGTGGTAATGATGATGGTGATGGTGATGATGGTGGTGGTGG TGATAATGGTGATGGTGATGGTGGTGGTAATGGTGATGGTGATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0007 a0003c0004t0001g0007	1	353	0.0028	393	c.-47 others(404): Show c.-4706_-4705insATGGTGATGGTGATGGTAGTGATGGGGGTGGTGG TAATGGTGATGATGGTGATGGTGATGATGGTGGTGGTGGTGATAATGGTG ATGGTGATGGTGGTGGTAATGGTGATGATGGTGATGGTGATGATGATGGT GGTGGTGGTGATAACGGTGATGGTGATGGTGGTGGTGGTAATGGTGATGG TGATGATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATG GTGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATGATGGTGAT GGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGATGATGGTGATGGTGA TGATGGTGGTGGTGGTGATAATGGTGATGGTGATGGTGGTGGTAATGGTG ATGGTGATG	PWWP2B	ENSG00000171813.14	transcript	ENST00000305233.6	protein_coding		4678		chr10	TogoVar
RECQL4_chr8_144506288_144522833	144513791	C C	CGTGGGGA others(386): Show CGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGT CGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGT GAGGAGGGGTCGGCGTGGGCGGTGGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGAGTGAGGAGGGGT CGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGT GAGGAGGGGTCGGCGTGGGCGGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCCGTGGGCG	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	333	0.0030	393	c.205 others(408): Show c.2059-80_2059-79insCGCCCACGGCCGACCCCTCCTCACTCCCCA CCGCCCACCGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTC CTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCCGCCCAC GCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCC CACCGCCCACGCCGACCCCTCCTCACTCCCACCGCCCACGCCGACCCCTC CTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCCACCGCCCAC GCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCC CACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCT CCTCACTCCCCAC	RECQL4	ENSG00000160957.15	transcript	ENST00000617875.6	protein_coding	12/20			chr8	TogoVar
RIMOC1_chr5_41899344_41926636	41914502	A A	AAACAAAA others(386): Show AAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACA AAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACA AAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACA AAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACA AAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACA AAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACA AAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACA AAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAAC	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0035 a0001c0001t0006g0035	1	311	0.0032	393	c.601 others(410): Show c.601+2320_601+2321insACAAAACAAAACAAAACAAAACAAAACA AAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACA AAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACA AAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACA AAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACA AAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACA AAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACA AAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACA AAACAAAACAAAACA	RIMOC1	ENSG00000205765.10	transcript	ENST00000381647.7	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
RPH3AL_chr17_207389_357807	314650	A A	ACTCCACC others(386): Show ACTCCACCTCCATTGACCTGTACTCTCTGTGACTCCATCTCCATTGACCT GTAGTCTCTGTGCTCCACCTCCACTGACCTGTAGTCCCTGTGCCCCACCT CCATTGACCTGCAGTCTCTGTACTCCACGTCCATTGACCTGTAGTCCCTG TGACTTCACCTCCATTGACCTGTAGTCCCTGTGCTCCACCTCCATTGACC TGTAGTCTCTGTGACCCCACCTCCATTGACCTGTAGTCCCTGTACTCCAC GTCCATTGACCTGCAGTCTCTGTGCTCCACCTCCATTGACCTGTAGTCCC TGTGCCCCACCTCCATTGACCTGTAGTCTCTGTGCTCCACCTCCATTGAC CTGTAGTCCCTGTACTCCACGTCCATTGACCTGTAGTCTCTCTG	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01496.hp1 HG01515.hp2 others(6): Show HG01361.hp1 HG01496.hp1 HG01515.hp2 HG01884.hp1 HG02071.hp1 HG02155.hp2 HG04184.hp2 NA18906.hp2 NA20905.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0013 a0001c0001 a0001c0002 a0004c0013	a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 a0001c0002t0007 a0004c0013t0003	a0001c0001t0001g0045 a0001c0002t0001g0001 a0001c0002t0001g0002 others(6): Show a0001c0001t0001g0045 a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0073 a0001c0002t0001g0123 a0001c0002t0003g0033 a0001c0002t0003g0090 a0001c0002t0007g0112 a0004c0013t0003g0036	9	126	0.0714	393	c.351 others(410): Show c.351+4769_351+4770insCAGAGAGACTACAGGTCAATGGACGTGG AGTACAGGGACTACAGGTCAATGGAGGTGGAGCACAGAGACTACAGGTCA ATGGAGGTGGGGCACAGGGACTACAGGTCAATGGAGGTGGAGCACAGAGA CTGCAGGTCAATGGACGTGGAGTACAGGGACTACAGGTCAATGGAGGTGG GGTCACAGAGACTACAGGTCAATGGAGGTGGAGCACAGGGACTACAGGTC AATGGAGGTGAAGTCACAGGGACTACAGGTCAATGGACGTGGAGTACAGA GACTGCAGGTCAATGGAGGTGGGGCACAGGGACTACAGGTCAGTGGAGGT GGAGCACAGAGACTACAGGTCAATGGAGATGGAGTCACAGAGAGTACAGG TCAATGGAGGTGGAG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	315225	C C	CCCCACCT others(386): Show CCCCACCTCCACTGACCTGTAGTCCCTGTGCTCCACCTCCACTGACCTGT AGTCACTGTGCACCCACCTCCATTGACCTGCAGTCCCTGTGCTCCACCTC CATTGACCTGTAGTCCCTGTGCCCCACCTCCACTGACCTGTTGTCTCTGT GCTACACCTCCACTGACCTGTTGTCTCTGTGCTACACCTCCACTGACCTG TAGTCCCTGTGCCCCACCTCCACTGACCTGTAGTCCCTGTGCTCCACCTC CACTGACCTGTAGTCCCTGTGCTCCACCTCCACTGACCTGCAGTCCCTGT GCCCCCACCTCCATTGACCTGTAATCCCTGTGACTCCACCTCCATTGACC TGTAGTCCCTGTGACTCCACCTCCACTGACGTGTAGTCCCTGTG	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0042 a0001c0001t0008g0042	1	71	0.0141	393	c.351 others(410): Show c.351+4194_351+4195insCACAGGGACTACACGTCAGTGGAGGTGG AGTCACAGGGACTACAGGTCAATGGAGGTGGAGTCACAGGGATTACAGGT CAATGGAGGTGGGGGCACAGGGACTGCAGGTCAGTGGAGGTGGAGCACAG GGACTACAGGTCAGTGGAGGTGGAGCACAGGGACTACAGGTCAGTGGAGG TGGGGCACAGGGACTACAGGTCAGTGGAGGTGTAGCACAGAGACAACAGG TCAGTGGAGGTGTAGCACAGAGACAACAGGTCAGTGGAGGTGGGGCACAG GGACTACAGGTCAATGGAGGTGGAGCACAGGGACTGCAGGTCAATGGAGG TGGGTGCACAGTGACTACAGGTCAGTGGAGGTGGAGCACAGGGACTACAG GTCAGTGGAGGTGGG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	315225	C C	CCCCACCT others(386): Show CCCCACCTCCACTGACCTGTAGTCCCTGTGCTCCACCTCCACTGACCTGT AGTCACTGTGCACCCACCTCCATTGACCTGCAGTCTCTGTGCTCCACCTC CATTGACCTGTAGTCCCTGTGCCCCACCTCCACTGACCTGTTGTCTCTGT GCTACACCTCCACTGACCTGTTGTCTCTGTGCTACACCTCCACTGACCTG TAGTCCCTGTGCCCCACCTCCACTGACCTGTAGTCCCTGTGCTCCACCTC CACTGACCTGTAGTCCCTGTGCTCCACCTCCACTGACCTGCAGTCCCTGT GCCCCCACCTCCATTGACCTGTAATACCTGTGACTCCACCTCCATTGACC TGTAGTCCCTGTGACTCCACCTCCACTGACGTGTAGTCCCTGTG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0036 a0001c0003t0036	a0001c0003t0036g0064 a0001c0003t0036g0064	1	71	0.0141	393	c.351 others(410): Show c.351+4194_351+4195insCACAGGGACTACACGTCAGTGGAGGTGG AGTCACAGGGACTACAGGTCAATGGAGGTGGAGTCACAGGTATTACAGGT CAATGGAGGTGGGGGCACAGGGACTGCAGGTCAGTGGAGGTGGAGCACAG GGACTACAGGTCAGTGGAGGTGGAGCACAGGGACTACAGGTCAGTGGAGG TGGGGCACAGGGACTACAGGTCAGTGGAGGTGTAGCACAGAGACAACAGG TCAGTGGAGGTGTAGCACAGAGACAACAGGTCAGTGGAGGTGGGGCACAG GGACTACAGGTCAATGGAGGTGGAGCACAGAGACTGCAGGTCAATGGAGG TGGGTGCACAGTGACTACAGGTCAGTGGAGGTGGAGCACAGGGACTACAG GTCAGTGGAGGTGGG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	315225	C C	CCCCACCT others(386): Show CCCCACCTCCACTGACCTGTAGTCCCTGTGCTCCACCTCCACTGACCTGT AGTCACTGTGCACCCACCTCCATTGACCTGCAGTCTCTGTGCTCCACCTC CATTGACCTGTAGTCCCTGTGCCCCACCTCCACTGACCTGTTGTCTCTGT GCTACACCTCCACTGACCTGTTGTCTCTGTGCTACACCTCCACTGACCTG TAGTCCCTGTGCCCCACCTCCACTGACCTGTAGTCCCTGTGCTCCACCTC CACTGACCTGTAGTCCCTGTGCTCCACCTCCACTGACCTGCAGTCCCTGT GCCCCCACCTCCATTGACCTGTAATCCCTGTGACTCCACCTCCATTGACC TGTAGTCCCTGTGACTCCACCTCCACTGACGTGTAGTCCCTGTG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00408.hp2 others(25): Show HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00544.hp1 HG01192.hp1 HG01255.hp2 HG01258.hp1 HG01358.hp2 HG01361.hp2 HG01943.hp1 HG01943.hp2 HG02027.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG03017.hp2 HG03831.hp1 NA18940.hp2 NA18959.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA19005.hp2 NA19056.hp2 NA19074.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0004 a0001c0006 others(1): Show a0001c0001 a0001c0004 a0001c0006 a0005c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0004t0001 a0001c0004t0004 a0001c0004t0026 a0001c0006t0004 a0005c0009t0001	a0001c0001t0001g0030 a0001c0001t0001g0047 a0001c0001t0001g0065 others(25): Show a0001c0001t0001g0030 a0001c0001t0001g0047 a0001c0001t0001g0065 a0001c0001t0001g0079 a0001c0001t0001g0124 a0001c0001t0002g0031 a0001c0001t0002g0061 a0001c0001t0004g0008 a0001c0001t0004g0021 a0001c0001t0004g0092 a0001c0001t0004g0097 a0001c0001t0004g0121 a0001c0001t0007g0032 a0001c0001t0009g0066 a0001c0001t0011g0007 a0001c0001t0012g0053 a0001c0001t0013g0055 a0001c0001t0013g0107 a0001c0001t0013g0108 a0001c0004t0001g0046 a0001c0004t0001g0048 a0001c0004t0001g0050 a0001c0004t0001g0062 a0001c0004t0001g0086 a0001c0004t0004g0014 a0001c0004t0026g0013 a0001c0006t0004g0022 a0005c0009t0001g0054	28	98	0.2857	393	c.351 others(410): Show c.351+4194_351+4195insCACAGGGACTACACGTCAGTGGAGGTGG AGTCACAGGGACTACAGGTCAATGGAGGTGGAGTCACAGGGATTACAGGT CAATGGAGGTGGGGGCACAGGGACTGCAGGTCAGTGGAGGTGGAGCACAG GGACTACAGGTCAGTGGAGGTGGAGCACAGGGACTACAGGTCAGTGGAGG TGGGGCACAGGGACTACAGGTCAGTGGAGGTGTAGCACAGAGACAACAGG TCAGTGGAGGTGTAGCACAGAGACAACAGGTCAGTGGAGGTGGGGCACAG GGACTACAGGTCAATGGAGGTGGAGCACAGAGACTGCAGGTCAATGGAGG TGGGTGCACAGTGACTACAGGTCAGTGGAGGTGGAGCACAGGGACTACAG GTCAGTGGAGGTGGG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPTOR_chr17_80539838_80971368	80700730	A A	ATGATAGA others(386): Show ATGATAGAGATGGTGATGGTGGTGATGATGATGGTCGTGGTGATGGTGGT GGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTAGAGATGATGGTGATGG TGATGATGGAGGTGATGGTGGTGATGGTGATGGTGGTGGTGGTGGTGATG ATGGTGATGGTGATGGTAGAGATGATGGTGATGATGGAGGTGGTGGTGAT GGTGATGGTGGTGGTGATGGTGATGGTGGTGGTGGTGGTGATGATGGTGA CGGTGATGGTAGAGATGATAGTGATAGTGGTGGTGATGATGGTGGTGATG GTGGTGGTGGTGATGATGGTGATGGTAGAGATGGTGGTGGTGGTGGTGGT GATGATGGTGACGGTGATGGTAGAGATGATGGTGGTGGTGGTGG	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0086 a0001c0086	a0001c0086t0004 a0001c0086t0004	a0001c0086t0004g0172 a0001c0086t0004g0172	1	8	0.1250	393	c.349 others(410): Show c.349-7107_349-7106insAGAGATGGTGATGGTGGTGATGATGATG GTCGTGGTGATGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGT AGAGATGATGGTGATGGTGATGATGGAGGTGATGGTGGTGATGGTGATGG TGGTGGTGGTGGTGATGATGGTGATGGTGATGGTAGAGATGATGGTGATG ATGGAGGTGGTGGTGATGGTGATGGTGGTGGTGATGGTGATGGTGGTGGT GGTGGTGATGATGGTGACGGTGATGGTAGAGATGATAGTGATAGTGGTGG TGATGATGGTGGTGATGGTGGTGGTGGTGATGATGGTGATGGTAGAGATG GTGGTGGTGGTGGTGGTGATGATGGTGACGGTGATGGTAGAGATGATGGT GGTGGTGGTGGTGAT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
SAMD11_chr1_918923_949574	934161	G G	GCGTTACA others(386): Show GCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAG GCGGCTGCGTTACTGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCG GGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTCCGTTACAGG TGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGT TACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGG CTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGG GGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGG CGGGGGGGGGCTGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTC	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0210 a0001c0001t0003g0210	1	404	0.0025	393	c.843 others(410): Show c.843-1597_843-1596insGGGGGAGGCGGCTGCGTTACAGGTGGGC GGGGGAGGCGGCTGCGTTACTGGTGGGCGGGGGAGGCGGCTGCGTTACAG GTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTCCG TTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCG GCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGG GGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGG GCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTAC AGGTGGGCGGGGGGGGGCTGCTCCGTTACAGGTGGGCGGGGGAGGCGGCT CCGTTACAGGTGGGC	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934273	G G	GCGTTACA others(386): Show GCGTTACAGGTGGGCGGGGGGGGCGGCTCCGTTACAGGTGGGCGGGGGGG GCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCG GGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGG TGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGGGGGCTGCTCCG TTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGAGGCG GCTGCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGG GGGGCTGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGG GCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCTGCTC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0168 a0001c0001t0003g0168	1	412	0.0024	393	c.843 others(410): Show c.843-1485_843-1484insGGGGGGGGCGGCTCCGTTACAGGTGGGC GGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAG GTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCG TTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGGGGGC TGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGG GGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTG GGCGGGGGGGGCTGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTA CAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCTGCT CCGTTACAGGTGGGC	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC16A3_chr17_82224042_82245086	82227685	C C	CACCACCT others(386): Show CACCACCTGCCCTGGGCGGGAGCACCACCTGCCCTGGGCGGGAGCACCAC CTGCCCTGGGCGGGAGCACCACCTGCCCTGGGCGGGAGCACCACCTGCCC TGGGCGGGAGCACCACCTGCCCTGGGCGGGAGCACCACCTGCCCTGGGCG GGAGCACCACCTGCCCTGGGCGGGAGCACCACCTGCCCTGGGCGGGAGCA CCACCTGCCCTGGGCGGGAGCACCACCTGCCCTGGGCGGGAGCACCACCT GCCCTGGGCGGGAGCACCACCTGCCCTGGGCGGGAGCACCACCTGCCCTG GGCGGGAGCACCACCTGCCCTGGGCGGGAGCACCACCTGCCCTGGGCGGG AGCACCACCTGCCCTGGGCGGGAGCACCACCTGCCCTGGGCGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0020 a0001c0001t0005g0020	1	375	0.0027	393	c.-14 others(404): Show c.-1448_-1447insACCACCTGCCCTGGGCGGGAGCACCACCTGCCCT GGGCGGGAGCACCACCTGCCCTGGGCGGGAGCACCACCTGCCCTGGGCGG GAGCACCACCTGCCCTGGGCGGGAGCACCACCTGCCCTGGGCGGGAGCAC CACCTGCCCTGGGCGGGAGCACCACCTGCCCTGGGCGGGAGCACCACCTG CCCTGGGCGGGAGCACCACCTGCCCTGGGCGGGAGCACCACCTGCCCTGG GCGGGAGCACCACCTGCCCTGGGCGGGAGCACCACCTGCCCTGGGCGGGA GCACCACCTGCCCTGGGCGGGAGCACCACCTGCCCTGGGCGGGAGCACCA CCTGCCCTGGGCGGGAGCACCACCTGCCCTGGGCGGGAGCACCACCTGCC CTGGGCGGG	SLC16A3	ENSG00000141526.18	transcript	ENST00000582743.6	protein_coding		1356		chr17	TogoVar
SLC22A23_chr6_3263973_3462050	3356090	C C	CGGGGGGC others(386): Show CGGGGGGCGCGGGAGGGGGAGGAGGCGGGGGGGCGGCAGGGGGGAGGCGG GGGGGCGGGAGGGGAGGAGGCGGGGAGGCGGGAGGGGGAGGAGGCGGGGA GGCGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGGGAGGAGGCGGGGGGG CGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGGGGAGGCGGGGGGGCGGG AGGGGGCCGGAGGGGGAGGAGGCGGGGGGGGCGGGGGGGCGGGAGGGGCG GGAGGGGGAGGAGGCGGGGGGGCGGGAGGGGGGAGGCGGGGGGGCGGGAG GGGAAGGAGGCGGGGGGGGGCGGGGGGGAGGGAGGGGAAGGAGGCGGGGG GGGCGGGAGGGGGAGGACGCGGGGGGGGCGGGGGGGGCGGGAGG	intron_variant intron_variant	MODIFIER	HG02027.hp2 NA18955.hp1 HG02027.hp2 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0097 a0001c0001t0001g0057 a0001c0001t0001g0097	2	26	0.0769	393	c.914 others(412): Show c.914-32089_914-32088insCCTCCCGCCCCCCCCGCCCCCCCCGC GTCCTCCCCCTCCCGCCCCCCCCGCCTCCTTCCCCTCCCTCCCCCCCGCC CCCCCCCGCCTCCTTCCCCTCCCGCCCCCCCGCCTCCCCCCTCCCGCCCC CCCGCCTCCTCCCCCTCCCGCCCCTCCCGCCCCCCCGCCCCCCCCGCCTC CTCCCCCTCCGGCCCCCTCCCGCCCCCCCGCCTCCCCCCTCCCGCCCCCC CGCCTCCTCCCCCTCCCGCCCCCCCGCCTCCTCCCCCTCCCGCCCCCCCG CCTCCTCCCCCTCCCGCCTCCCCGCCTCCTCCCCCTCCCGCCTCCCCGCC TCCTCCCCTCCCGCCCCCCCGCCTCCCCCCTGCCGCCCCCCCGCCTCCTC CCCCTCCCGCGCCCCCC	SLC22A23	ENSG00000137266.15	transcript	ENST00000406686.8	protein_coding	3/9			chr6	TogoVar
SLC22A23_chr6_3263973_3462050	3356090	C C	CGGGGGGC others(386): Show CGGGGGGCGCGGGAGGGGGAGGAGGCGGGGGGGCGGCAGGGGGGAGGCGG GGGGGCGGGAGGGGAGGAGGCGGGGAGGCGGGAGGGGGAGGAGGCGGGGA GGCGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGGGAGGAGGCGGGGGGG CGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGGGGAGGCGGGGGGGCGGG AGGGGGCCGGAGGGGGAGGAGGCGGGGGGGGGCGGGGGGGCGGGAGGGGC GGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGGGGAGGCGGGGGGGCGGGA GGGGAAGGAGGCGGGGGGGGCGGGGGGGAGGGAGGGGAAGGAGGCGGGGG GGGCGGGAGGGGGAGGACGCGGGGGGGGCGGGGGGGGCGGGAGG	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0220 a0001c0001t0013g0220	1	25	0.0400	393	c.914 others(412): Show c.914-32089_914-32088insCCTCCCGCCCCCCCCGCCCCCCCCGC GTCCTCCCCCTCCCGCCCCCCCCGCCTCCTTCCCCTCCCTCCCCCCCGCC CCCCCCGCCTCCTTCCCCTCCCGCCCCCCCGCCTCCCCCCTCCCGCCCCC CCGCCTCCTCCCCCTCCCGCCCCTCCCGCCCCCCCGCCCCCCCCCGCCTC CTCCCCCTCCGGCCCCCTCCCGCCCCCCCGCCTCCCCCCTCCCGCCCCCC CGCCTCCTCCCCCTCCCGCCCCCCCGCCTCCTCCCCCTCCCGCCCCCCCG CCTCCTCCCCCTCCCGCCTCCCCGCCTCCTCCCCCTCCCGCCTCCCCGCC TCCTCCCCTCCCGCCCCCCCGCCTCCCCCCTGCCGCCCCCCCGCCTCCTC CCCCTCCCGCGCCCCCC	SLC22A23	ENSG00000137266.15	transcript	ENST00000406686.8	protein_coding	3/9			chr6	TogoVar
SLC22A23_chr6_3263973_3462050	3356090	C C	CGGGGGGC others(386): Show CGGGGGGCGCGGGAGGGGGAGGAGGCGGGGGGGCGGCAGGGGGGAGGCGG GGGGGCGGGAGGGGAGGAGGCGGGGAGGCGGGAGGGGGAGGAGGCGGGGA GGCGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGGGAGGAGGCGGGGGGG GCGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGGGGAGGCGGGGGGGCGG GAGGGGGCCGGAGGGGGAGGAGGCGGGGGGGGCGGGGGGGCGGGAGGGGC GGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGGGGAGGCGGGGGGGCGGGA GGGGAAGGAGGCGGGGGGGGCGGGGGGGAGGGAGGGGAAGGAGGCGGGGG GGGCGGGAGGGGGAGGACGCGGGGGGGGCGGGGGGGGCGGGAGG	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	25	0.0400	393	c.914 others(412): Show c.914-32089_914-32088insCCTCCCGCCCCCCCCGCCCCCCCCGC GTCCTCCCCCTCCCGCCCCCCCCGCCTCCTTCCCCTCCCTCCCCCCCGCC CCCCCCGCCTCCTTCCCCTCCCGCCCCCCCGCCTCCCCCCTCCCGCCCCC CCGCCTCCTCCCCCTCCCGCCCCTCCCGCCCCCCCGCCCCCCCCGCCTCC TCCCCCTCCGGCCCCCTCCCGCCCCCCCGCCTCCCCCCTCCCGCCCCCCC GCCTCCTCCCCCTCCCGCCCCCCCCGCCTCCTCCCCCTCCCGCCCCCCCG CCTCCTCCCCCTCCCGCCTCCCCGCCTCCTCCCCCTCCCGCCTCCCCGCC TCCTCCCCTCCCGCCCCCCCGCCTCCCCCCTGCCGCCCCCCCGCCTCCTC CCCCTCCCGCGCCCCCC	SLC22A23	ENSG00000137266.15	transcript	ENST00000406686.8	protein_coding	3/9			chr6	TogoVar
SLC22A23_chr6_3263973_3462050	3356090	C C	CGGGGGGC others(386): Show CGGGGGGCGCGGGAGGGGGAGGAGGCGGGGGGGCGGCAGGGGGGAGGCGG GGGGGCGGGAGGGGAGGAGGCGGGGAGGCGGGAGGGGGAGGAGGCGGGGG GGCGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGGGAGGAGGCGGGGGGG CGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGGGGAGGCGGGGGGGCGGG AGGGGGCCGGAGGGGGAGGAGGCGGGGGGGGCGGGGGGGCGGGAGGGGCG GGAGGGGGAGGAGGCGGGGGGGCGGGAGGGGGGAGGCGGGGGGGCGGGAG GGGAAGGAGGCGGGGGGGGCGGGGGGGAGGGAGGGGAAGGAGGCGGGGGG GGGCGGGAGGGGGAGGACGCGGGGGGGGCGGGGGGGGCGGGAGG	intron_variant intron_variant	MODIFIER	HG04184.hp1 NA21309.hp1 HG04184.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0113 a0001c0001t0002g0156 a0001c0001t0001g0113 a0001c0001t0002g0156	2	26	0.0769	393	c.914 others(412): Show c.914-32089_914-32088insCCTCCCGCCCCCCCCGCCCCCCCCGC GTCCTCCCCCTCCCGCCCCCCCCCGCCTCCTTCCCCTCCCTCCCCCCCGC CCCCCCCGCCTCCTTCCCCTCCCGCCCCCCCGCCTCCCCCCTCCCGCCCC CCCGCCTCCTCCCCCTCCCGCCCCTCCCGCCCCCCCGCCCCCCCCGCCTC CTCCCCCTCCGGCCCCCTCCCGCCCCCCCGCCTCCCCCCTCCCGCCCCCC CGCCTCCTCCCCCTCCCGCCCCCCCGCCTCCTCCCCCTCCCGCCCCCCCG CCTCCTCCCCCTCCCGCCCCCCCGCCTCCTCCCCCTCCCGCCTCCCCGCC TCCTCCCCTCCCGCCCCCCCGCCTCCCCCCTGCCGCCCCCCCGCCTCCTC CCCCTCCCGCGCCCCCC	SLC22A23	ENSG00000137266.15	transcript	ENST00000406686.8	protein_coding	3/9			chr6	TogoVar
SLC35F1_chr6_117902264_118322671	118071064	G G	GTGTATAT others(386): Show GTGTATATATATACACATAGTATATATATTCTACGTATATATATACACAT AGTATATATATTCTACGTGTATATATATACACATAGTATATATATTCTAC GTATATATATACACACGTAGTATATATATTCTATGTGTATATATATACAC ATAGTATATATATTCTATGTGTATATATATACACATAGTATATATATTCT ACGTGTGTGTATATATATACACATAGTATATATATTCTACGTGTATGTAT ACACATATATACATAGAATATATATACTATGTGTATATATATACACGTAG AATATATATACTATGTGTATATATACGTAGAATATATATACTATGTGTAT ATATACGTAGAATATATATACTATGTGTATATATATACGTAGAA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	52	0.0192	393	c.174 others(412): Show c.174-83380_174-83379insGTATATATATACACATAGTATATATA TTCTACGTATATATATACACATAGTATATATATTCTACGTGTATATATAT ACACATAGTATATATATTCTACGTATATATATACACACGTAGTATATATA TTCTATGTGTATATATATACACATAGTATATATATTCTATGTGTATATAT ATACACATAGTATATATATTCTACGTGTGTGTATATATATACACATAGTA TATATATTCTACGTGTATGTATACACATATATACATAGAATATATATACT ATGTGTATATATATACACGTAGAATATATATACTATGTGTATATATACGT AGAATATATATACTATGTGTATATATACGTAGAATATATATACTATGTGT ATATATATACGTAGAAT	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC35F1_chr6_117902264_118322671	118071064	G G	GTGTATAT others(386): Show GTGTATATATATACACATAGTATATATATTCTACGTATATATATACACAT AGTATATATATTCTACGTGTGTATATATATACACATAGTATATATATTCT ACGTATATATATACACATAGTATATATATTCTACGTATATATATACACAT AGTATATATATTCTACGTGTGTGTATATATATACACATAGTATATATATT CTACGTGTGTATATATATACACATAGTATATATATTCTACGTGTATGTAT ACACATATATACATAGAATATATATACTATGTGTATATATATACGTAGAA TATATATACTATGTGTATATATACGTAGAATATATATACTATGTGTGTAT ATATACGTAGAATATATATACTATGTGTATATATATACGTAGAA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0120 a0001c0001t0008g0120	1	52	0.0192	393	c.174 others(412): Show c.174-83380_174-83379insGTATATATATACACATAGTATATATA TTCTACGTATATATATACACATAGTATATATATTCTACGTGTGTATATAT ATACACATAGTATATATATTCTACGTATATATATACACATAGTATATATA TTCTACGTATATATATACACATAGTATATATATTCTACGTGTGTGTATAT ATATACACATAGTATATATATTCTACGTGTGTATATATATACACATAGTA TATATATTCTACGTGTATGTATACACATATATACATAGAATATATATACT ATGTGTATATATATACGTAGAATATATATACTATGTGTATATATACGTAG AATATATATACTATGTGTGTATATATACGTAGAATATATATACTATGTGT ATATATATACGTAGAAT	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar

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