Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
MAPK11_chr22_50258713_50275380	50274865	C C	CTCCCAAC others(211): Show CTCCCAACCCCCCACCTCCCCCCAGCACCCCTCCCAGCCCCCTCCACCTC CCCCCAGCACCCCTCCCAGCCCCCTCCACCTCCCCCAGCACCCCTCCCAG CCCCCTCCACCTCCCCCAGCACCACCCCCAGCCCCCTCCACCTCCCCCAG CATCCCTCCCAGCCCCCTCCACCTTTCCCAGCACCCTTCCCAGCCCCCTC CACCTCCCCACAGCTCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0075 a0001c0001t0008g0075	1	428	0.0023	218	c.-45 others(229): Show c.-4574_-4573insTGGGAGCTGTGGGGAGGTGGAGGGGGCTGGGAAG GGTGCTGGGAAAGGTGGAGGGGGCTGGGAGGGATGCTGGGGGAGGTGGAG GGGGCTGGGGGTGGTGCTGGGGGAGGTGGAGGGGGCTGGGAGGGGTGCTG GGGGAGGTGGAGGGGGCTGGGAGGGGTGCTGGGGGGAGGTGGAGGGGGCT GGGAGGGGTGCTGGGGGGAGGTGGGGGGTTGGGA	MAPK11	ENSG00000185386.15	transcript	ENST00000330651.11	protein_coding		4486		chr22	TogoVar
MAPK8IP3_chr16_1701195_1775351	1738804	C C	CCCATGTG others(211): Show CCCATGTGAGCATCTGTGACCGTCCGTGTGAGCGTCCGTGTGAGCGTGTG AGCGTCCGTGTGAGTGTGACCACCCATGTGAGCATCTGTGACCGTCCGTG TGAGCGTCCGTGTGAGCGTGTGAGCGTCCGTGTGAGTGTGACCACCCATG TGAGCATCTGTGTGACCGTCCGTGTGAGCGTCCGTGTGAGCGTGTGAGCG TCCGTGTGAGTGTGACCAT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0217 a0001c0001t0006g0217	1	330	0.0030	218	c.603 others(235): Show c.603-4511_603-4510insACCGTCCGTGTGAGCGTCCGTGTGAGCG TGTGAGCGTCCGTGTGAGTGTGACCACCCATGTGAGCATCTGTGACCGTC CGTGTGAGCGTCCGTGTGAGCGTGTGAGCGTCCGTGTGAGTGTGACCACC CATGTGAGCATCTGTGTGACCGTCCGTGTGAGCGTCCGTGTGAGCGTGTG AGCGTCCGTGTGAGTGTGACCATCCATGTGAGCATCTGTG	MAPK8IP3	ENSG00000138834.15	transcript	ENST00000610761.2	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr16	TogoVar
MBD3L3_chr19_7051207_7063676	7061786	T T	TATAATTA others(211): Show TATAATTATATAATATATAATTTATATATAATATAATTATATAATATATA ATTTATATATAATATAATTATATAATATATAATTTATATATAATATAATT ATATAATATATAATTTATATATTATATAATTATATAATATATAATTTATA TATAATATAATTATATAATATATAATTTATATATAATATAATTATATAAT ATATAAATTATATATAATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0004 a0002c0002t0001g0004	1	288	0.0035	218	c.-31 others(229): Show c.-3182_-3181insTATTATATATAATTTATATATTATATAATTATAT TATATATAAATTATATATTATATAATTATATTATATATAAATTATATATT ATATAATTATATAATATATAAATTATATATTATATAATTATATTATATAT AAATTATATATTATATAATTATATTATATATAAATTATATATTATATAAT TATATTATATATAAATTATATATTATATAATTAT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3111		chr19	TogoVar
MBNL3_chrX_132364320_132494038	132396741	T T	TATATATT others(211): Show TATATATTCATATATATATTCATATATATTCATATATATTCATATATATT CATATATATATTCATATATATTCATATATATATTCATATATATTCATATA TATATTCATATATATATTCATATATATTCATATATATTCATATATATATT CATATATATATATATTCATATATATATTCATATATACATATATATATTCA TATATACATATATATATTC	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	191	0.0052	218	c.343 others(235): Show c.343-4408_343-4407insGAATATATATATGTATATATGAATATAT ATATGTATATATGAATATATATATGAATATATATATATATGAATATATAT ATGAATATATATGAATATATATGAATATATATATGAATATATATATGAAT ATATATGAATATATATATGAATATATATGAATATATATATGAATATATAT GAATATATATGAATATATATGAATATATATATGAATATAT	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MCTP2_chr15_94226561_94488952	94464240	A A	ATATATAT others(211): Show ATATATATTATATATATATATTATATATATATTATATATATATATTATAT ATATATTATATATATATTATATATATATATTATATATATATTATATATAT ATATATATATATATTATATATATATATTATATATATATTATATATATATA TTATATATATATTATATATATATATTATATATATATATTATATATATATA TTATATATATATATTATAT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0042 a0003c0009t0042	a0003c0009t0042g0276 a0003c0009t0042g0276	1	276	0.0036	218	c.236 others(237): Show c.2360+6001_2360+6002insTATATATATATATTATATATATATTA TATATATATATTATATATATATTATATATATATTATATATATATATTATA TATATATTATATATATATATATATATATATTATATATATATATTATATAT ATATTATATATATATATTATATATATATTATATATATATATTATATATAT ATATTATATATATATATTATATATATATATTATATTATATAT	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	20/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MPI_chr15_74885042_74907219	74894106	G G	GCCAGGGT others(211): Show GCCAGGGTCTCTTTCTGTTGCCCCAGGCTGGAGTGCAGTGGTGCGATCTT GGCTCACTGCAGCCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCATTAT TTATTTGACCCAAGCATATTTTTTTCTGTTCAGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTTTTCTGAGCCA	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0139 a0001c0003t0005g0139	1	422	0.0024	218	c.670 others(233): Show c.670+786_670+787insCCAGGGTCTCTTTCTGTTGCCCCAGGCTGG AGTGCAGTGGTGCGATCTTGGCTCACTGCAGCCTCTGCCTCCCGGGTTCA AGCAATTCTCCTGCATTATTTATTTGACCCAAGCATATTTTTTTCTGTTC AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTGTGTGTGTTTTCTGAGCCA	MPI	ENSG00000178802.18	transcript	ENST00000352410.9	protein_coding	5/7			chr15	TogoVar
MPI_chr15_74885042_74907219	74894107	T T	TGTTTTCT others(211): Show TGTTTTCTGAGCCAGGGTCTCTTTCTGTTGCCCCAGGCTGGAGTGCAGTG GTGCGATCTTGGCTCACTGCAGCCTCTGCCTCCCGGGTTCAAGCAATTCT CCTGCATTATTTATTTGACCCAAGCATATTTTTTTCTGTTCAGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTTTCTGAGCCAG	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0132 a0001c0003t0005g0132	1	422	0.0024	218	c.670 others(233): Show c.670+788_670+789insTTTTCTGAGCCAGGGTCTCTTTCTGTTGCC CCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAGCCTCTGCCTC CCGGGTTCAAGCAATTCTCCTGCATTATTTATTTGACCCAAGCATATTTT TTTCTGTTCAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTGTTTCTGAGCCAGG	MPI	ENSG00000178802.18	transcript	ENST00000352410.9	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr15	TogoVar
MPPED2_chr11_30405224_30591353	30557225	A A	AATATATA others(211): Show AATATATATATATTATATATATTATATAATAAATATATATATAATATATA TATAATATATATATTATATATATTATATATAATATATATTATATATATTA TATATAATATATATATTATATATATATAATATATATATTATATATATTAT ATATAATATATATTATATATATATAATATATATATAATATATATATTATA TATATATAATATATATATT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02717.hp1 HG02976.hp2 others(5): Show HG02257.hp1 HG02717.hp1 HG02976.hp2 HG03130.hp1 HG03195.hp2 HG03225.hp2 NA19240.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0162 a0001c0001t0004g0160 a0001c0001t0004g0161 others(5): Show a0001c0001t0001g0162 a0001c0001t0004g0160 a0001c0001t0004g0161 a0001c0001t0004g0163 a0001c0001t0004g0164 a0001c0001t0004g0165 a0001c0001t0004g0166 a0001c0001t0004g0167	8	262	0.0305	218	c.129 others(237): Show c.129-21051_129-21050insAATATATATATTATATATATATAATA TATATATTATATATATATTATATATATATAATATATATTATATATAATAT ATATAATATATATATTATATATATATAATATATATATTATATATAATATA TATAATATATATTATATATAATATATATAATATATATATTATATATATAT TATATATATATTTATTATATAATATATATAATATATATATAT	MPPED2	ENSG00000066382.17	transcript	ENST00000358117.10	protein_coding	2/6			chr11	TogoVar
MPPED2_chr11_30405224_30591353	30557225	A A	AATATATA others(211): Show AATATATATATATTATATATATTATATAATAAATATATATATAATATATA TATAATATATATATTATATATATTATATATAATATATATTATATATATTA TATATAATATATATATTATATATATATAATATATATATTATATATATTAT ATATAATATATATTATATATATATTATATATATATAATATATATATTATA TATATATAATATATATATT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0158 a0001c0001t0004g0158	1	262	0.0038	218	c.129 others(237): Show c.129-21051_129-21050insAATATATATATTATATATATATAATA TATATATTATATATATATAATATATATATAATATATATTATATATAATAT ATATAATATATATATTATATATATATAATATATATATTATATATAATATA TATAATATATATTATATATAATATATATAATATATATATTATATATATAT TATATATATATTTATTATATAATATATATAATATATATATAT	MPPED2	ENSG00000066382.17	transcript	ENST00000358117.10	protein_coding	2/6			chr11	TogoVar
MPPED2_chr11_30405224_30591353	30557225	A A	AATATATA others(211): Show AATATATATATATTATATATATTATATAATAAATATATATATAATATATA TATAATATATATTATATATATTATATATAATATATATTATATATATAATA TATATAATATATATATTATATATATATAATATATATATTATATATATTAT ATATAATATATATTATATATATATAATATATATATAATATATATATTATA TATATATAATATATATATT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0154 a0001c0001t0002g0154	1	262	0.0038	218	c.129 others(237): Show c.129-21051_129-21050insAATATATATATTATATATATATAATA TATATATTATATATATATTATATATATATAATATATATTATATATAATAT ATATAATATATATATTATATATATATAATATATATATTATATATATTATA TATATAATATATATTATATATAATATATATAATATATATTATATATATAT TATATATATATTTATTATATAATATATATAATATATATATAT	MPPED2	ENSG00000066382.17	transcript	ENST00000358117.10	protein_coding	2/6			chr11	TogoVar
MSRB3_chr12_65273683_65471907	65396696	A A	AGAAAGAA others(211): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGA AAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0139 a0001c0001t0013g0139	1	312	0.0032	218	c.292 others(237): Show c.292+27670_292+27671insGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGGAAAGAAAGAAAGAAAGAAAG	MSRB3	ENSG00000174099.12	transcript	ENST00000308259.10	protein_coding	5/6			chr12	TogoVar
MYCBP2_chr13_77039657_77332094	77174910	T T	TAATATAT others(211): Show TAATATATATTATATATATAATATATAATATATATAATATATATTATATA TATAATATATATTATATATAATATATAATATATATAATATATATTATATA TATAATATATAATATATATTATATATTATAATATATAATATATATTATAT ATATATATATATATTATATATAATATATATTATATATATATAATATATAT AATATATATTTTAAATATA	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	334	0.0030	218	c.547 others(235): Show c.5473-422_5473-421insTATATTTAAAATATATATTATATATATT ATATATATATAATATATATTATATATAATATATATATATATATATAATAT ATATTATATATTATAATATATAATATATATTATATATTATATATATAATA TATATTATATATATTATATATTATATATAATATATATTATATATATAATA TATATTATATATATTATATATTATATATATAATATATATT	MYCBP2	ENSG00000005810.20	transcript	ENST00000544440.7	protein_coding	36/82			chr13	TogoVar
MYO5B_chr18_49817789_50200147	50183314	T T	TATATTAT others(211): Show TATATTATATATATAATATATATATATAATATATATATATTATATATATA TTATATATATTATATATATAATATATATATATTATATATAATATATATAT AATATATATATAATATATATATAATATATATAATATATATATAATATATA TATTATATATATTATATATATAATATATATAATATATGTTATATATATAA TATATATATTATATATATA	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0028 a0028	a0028c0026 a0028c0026	a0028c0026t0002 a0028c0026t0002	a0028c0026t0002g0001 a0028c0026t0002g0001	1	238	0.0042	218	c.27+ others(235): Show c.27+11452_27+11453insTATATATATAATATATATATTATATATA TAACATATATTATATATATTATATATATAATATATATAATATATATATTA TATATATATTATATATATTATATATATATTATATATATATTATATATATA TTATATATAATATATATATATTATATATATAATATATATAATATATATAT AATATATATATATTATATATATATATTATATATATAATAT	MYO5B	ENSG00000167306.21	transcript	ENST00000285039.12	protein_coding	1/39			chr18	TogoVar
NAALAD2_chr11_90129663_90197894	90154996	T T	TATATATT others(211): Show TATATATTATATACGTATACATAATATGTATATATTATATACGTATACAT AATATGTATATATTATATACGTATACATAATATGTATATATTATATACGT ATACATAATATGTATATATTATATACGTATACATAATATGTATATATTAT ATACGTATACATAATATGTATATATTATATACGTATACATAATATGTATA TATTATATACGTATACATA	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0202 a0001c0002t0005g0202	1	364	0.0028	218	c.796 others(235): Show c.796+2514_796+2515insATATTATATACGTATACATAATATGTAT ATATTATATACGTATACATAATATGTATATATTATATACGTATACATAAT ATGTATATATTATATACGTATACATAATATGTATATATTATATACGTATA CATAATATGTATATATTATATACGTATACATAATATGTATATATTATATA CGTATACATAATATGTATATATTATATACGTATACATAAT	NAALAD2	ENSG00000077616.11	transcript	ENST00000534061.6	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr11	TogoVar
NDUFV3_chr21_42888309_42918299	42894362	A A	ATATATAT others(211): Show ATATATATTATATATAAATATATATTATATATATTATATATAATATATAT TATATTAAATATATATTATATATATTATATATAATATATTAAATATATAT TATATATATTATATATAATATATATTATATATAATATATATTATATATAA TATATATTATATATATTATATATAATACATATTATATATAATATATATTA TATATAATATATATTATAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02486.hp2 HG03130.hp2 others(1): Show HG02257.hp2 HG02486.hp2 HG03130.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0073 a0001c0001t0074 a0001c0001t0016 a0001c0001t0073 a0001c0001t0074	a0001c0001t0016g0031 a0001c0001t0016g0150 a0001c0001t0073g0031 others(1): Show a0001c0001t0016g0031 a0001c0001t0016g0150 a0001c0001t0073g0031 a0001c0001t0074g0151	4	348	0.0115	218	c.48+ others(231): Show c.48+988_48+989insTATATATAAATATATATTATATATATTATATA TAATATATATTATATTAAATATATATTATATATATTATATATAATATATT AAATATATATTATATATATTATATATAATATATATTATATATAATATATA TTATATATAATATATATTATATATATTATATATAATACATATTATATATA ATATATATTATATATAATATATATTATATTATATAT	NDUFV3	ENSG00000160194.18	transcript	ENST00000354250.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr21	TogoVar
NFATC1_chr18_79390930_79534323	79400834	C C	CCCTCCCC others(211): Show CCCTCCCCCGACCTCCCCCCCGCGCCCCGACCTCCTCCCTGTTCCCTCCC CCGACCTCCCCCTTCCCCCCCGACCTACACCCCGCCCCCCTACCTCCCCC CTCCCCGTGACCTGCCCCCCAGAACTCCTCCCCATCCCGCCCCCCGACCT CCCCCCGCCCCCCTCCCCCGGCCCCCCCCCCACCCGCCCCCCGACCTCCC CCCGCCCCCCTCCCCCTGG	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0148 a0001c0004t0003g0148	1	322	0.0031	218	c.127 others(235): Show c.127+4485_127+4486insTCCCCCGACCTCCCCCCCGCGCCCCGAC CTCCTCCCTGTTCCCTCCCCCGACCTCCCCCTTCCCCCCCGACCTACACC CCGCCCCCCTACCTCCCCCCTCCCCGTGACCTGCCCCCCAGAACTCCTCC CCATCCCGCCCCCCGACCTCCCCCCGCCCCCCTCCCCCGGCCCCCCCCCC ACCCGCCCCCCGACCTCCCCCCGCCCCCCTCCCCCTGGCC	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NLGN1_chr3_173392744_174299372	174086282	T T	TACATATA others(211): Show TACATATATATATATGTATGTGCATACATATATATATTTATGTATGTGCA TACATATATATTTATGTATGTGCATACATATATATATATTTATGTATGTG CATACATATATATATTTATGTATGTGCATAAATATATATATATTTATGTA TGTGCATAAATATATATATATATTTATGTATGTGCATAAATATATATATA TATTTATGTATGTGCATAA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0027 a0001c0007t0027	a0001c0007t0027g0020 a0001c0007t0027g0020	1	44	0.0227	218	c.707 others(239): Show c.707-189032_707-189031insCATATATATATATGTATGTGCATA CATATATATATTTATGTATGTGCATACATATATATTTATGTATGTGCATA CATATATATATATTTATGTATGTGCATACATATATATATTTATGTATGTG CATAAATATATATATATTTATGTATGTGCATAAATATATATATATATTTA TGTATGTGCATAAATATATATATATATTTATGTATGTGCATAAA	NLGN1	ENSG00000169760.18	transcript	ENST00000695368.1	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
ODF3_chr11_191761_205258	194918	T T	TCCCCCAC others(211): Show TCCCCCACAGAGGGACACACAAATGGGGACATCAGGAACACACTCGGGGC CACAGCCACACACACAGACCCACACACAGAGGATCCCACTCAAGGAGCAC ACGTGCAAAAGTCCCCACAGAGGGGCACACAAGTGGGGACATCAGGAACA CAGGGCCACAGCCACACACACAGACCCACATACAGAGGATCCCACTCAAG GAGCACACGTGCGAAAGTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0004 a0001c0002t0001g0004	1	388	0.0026	218	c.-21 others(229): Show c.-2137_-2136insCCCCCACAGAGGGACACACAAATGGGGACATCAG GAACACACTCGGGGCCACAGCCACACACACAGACCCACACACAGAGGATC CCACTCAAGGAGCACACGTGCAAAAGTCCCCACAGAGGGGCACACAAGTG GGGACATCAGGAACACAGGGCCACAGCCACACACACAGACCCACATACAG AGGATCCCACTCAAGGAGCACACGTGCGAAAGTC	ODF3	ENSG00000177947.15	transcript	ENST00000325113.9	protein_coding		1842		chr11	TogoVar
ODF3_chr11_191761_205258	194918	T T	TCCCCCAC others(211): Show TCCCCCACAGAGGGACACACAAATGGGGACATCAGGAACACACTCGGGGC CACAGCCACACACACAGACCCACATACAGAGGATCCCACTCAAGGAGCAC ACGTGCAAAAGTCCCCACAGAGGGGCACACAAGTGGGGACATCAGGAACA CAGGGCCACAGCCACACACACAGACCCACATACAGAGGATCCCACTCAAG GAGCACACGTGCGAAAGTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00438.hp2 HG00544.hp1 others(39): Show HG00408.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00621.hp1 HG00639.hp2 HG00642.hp1 HG00735.hp1 HG01256.hp1 HG01258.hp2 HG01346.hp1 HG02040.hp2 HG02080.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02258.hp1 HG02683.hp2 HG02698.hp2 HG03041.hp2 HG03704.hp2 HG03927.hp1 HG04184.hp2 HG04199.hp1 NA18747.hp2 NA18945.hp1 NA18953.hp1 NA18956.hp2 NA18957.hp1 NA18971.hp1 NA18979.hp1 NA19011.hp2 NA19056.hp2 NA19062.hp2 NA19065.hp1 NA19066.hp2 NA19075.hp1 NA19080.hp1 NA19084.hp1 NA19090.hp1 NA20905.hp1	a0001 a0007 a0001 a0007	a0001c0002 a0001c0005 a0007c0009 a0001c0002 a0001c0005 a0007c0009	a0001c0002t0001 a0001c0005t0001 a0007c0009t0001 a0001c0002t0001 a0001c0005t0001 a0007c0009t0001	a0001c0002t0001g0004 a0001c0002t0001g0010 a0001c0002t0001g0017 others(4): Show a0001c0002t0001g0004 a0001c0002t0001g0010 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0022 a0001c0005t0001g0004 a0007c0009t0001g0004	42	388	0.1083	218	c.-21 others(229): Show c.-2137_-2136insCCCCCACAGAGGGACACACAAATGGGGACATCAG GAACACACTCGGGGCCACAGCCACACACACAGACCCACATACAGAGGATC CCACTCAAGGAGCACACGTGCAAAAGTCCCCACAGAGGGGCACACAAGTG GGGACATCAGGAACACAGGGCCACAGCCACACACACAGACCCACATACAG AGGATCCCACTCAAGGAGCACACGTGCGAAAGTC	ODF3	ENSG00000177947.15	transcript	ENST00000325113.9	protein_coding		1842		chr11	TogoVar
ODF3_chr11_191761_205258	194918	T T	TCCCCCAC others(211): Show TCCCCCACAGAGGGACACACAAATGGGGACATCAGGAACACACTCGGGGC CACAGCCACACACACAGACCCACATACAGAGGATCCCACTCAAGGAGCAC ACGTGCAAAAGTCCCCACAGAGGGGCACACAAGTGGGGACATCAGGAACA CAGGGCCACAGCCACACACACAGACCCACATACAGAGGATCCCACTCAAG GAGCACACGTGCGTAAGTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00408.hp2 HG00423.hp2 others(130): Show HG00099.hp1 HG00408.hp2 HG00423.hp2 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00673.hp2 HG01069.hp2 HG01071.hp2 HG01081.hp1 HG01123.hp2 HG01169.hp2 HG01175.hp2 HG01256.hp2 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01515.hp2 HG01517.hp2 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02040.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02109.hp1 HG02145.hp1 HG02273.hp2 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02735.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG03017.hp1 HG03017.hp2 HG03453.hp2 HG03486.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp2 HG04199.hp2 HG04228.hp2 NA18612.hp1 NA18747.hp1 NA18942.hp2 NA18944.hp2 NA18945.hp2 NA18946.hp2 NA18947.hp2 NA18952.hp2 NA18953.hp2 NA18957.hp2 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18970.hp2 NA18972.hp2 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp2 NA18981.hp2 NA18992.hp1 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA18999.hp2 NA19000.hp2 NA19003.hp2 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19057.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19075.hp2 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp2 NA19084.hp2 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA20129.hp1 NA20905.hp2	a0001 a0003 a0009 a0001 a0003 a0009	a0001c0002 a0003c0004 a0009c0008 a0001c0002 a0003c0004 a0009c0008	a0001c0002t0001 a0001c0002t0006 a0003c0004t0001 others(1): Show a0001c0002t0001 a0001c0002t0006 a0003c0004t0001 a0009c0008t0001	a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0003 others(7): Show a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0010 a0001c0002t0001g0012 a0001c0002t0001g0013 a0001c0002t0001g0015 a0001c0002t0006g0021 a0003c0004t0001g0003 a0009c0008t0001g0002	133	388	0.3428	218	c.-21 others(229): Show c.-2137_-2136insCCCCCACAGAGGGACACACAAATGGGGACATCAG GAACACACTCGGGGCCACAGCCACACACACAGACCCACATACAGAGGATC CCACTCAAGGAGCACACGTGCAAAAGTCCCCACAGAGGGGCACACAAGTG GGGACATCAGGAACACAGGGCCACAGCCACACACACAGACCCACATACAG AGGATCCCACTCAAGGAGCACACGTGCGTAAGTC	ODF3	ENSG00000177947.15	transcript	ENST00000325113.9	protein_coding		1842		chr11	TogoVar
ODF3_chr11_191761_205258	194921	C C	CCCACAGA others(211): Show CCCACAGAGGGACACACAAATGGGGACATCAGGAACACACTCGGGGCCAC AGCCACACACACAGACCCACATACAGAGGATCCCACTCAAGGAGCACACG TGCAAAAGTCCCCACAGAGGGGCACACAAGTGGGGACATCAGGAACACAG GGCCACAGCCACACACACAGACCCACATACAGAGGATCCCACTCAAGGAG CACACGTGCGTAAGTCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	388	0.0026	218	c.-21 others(229): Show c.-2134_-2133insCCACAGAGGGACACACAAATGGGGACATCAGGAA CACACTCGGGGCCACAGCCACACACACAGACCCACATACAGAGGATCCCA CTCAAGGAGCACACGTGCAAAAGTCCCCACAGAGGGGCACACAAGTGGGG ACATCAGGAACACAGGGCCACAGCCACACACACAGACCCACATACAGAGG ATCCCACTCAAGGAGCACACGTGCGTAAGTCCCT	ODF3	ENSG00000177947.15	transcript	ENST00000325113.9	protein_coding		1839		chr11	TogoVar
OR4F17_chr19_102104_118156	107970	A A	ATTATTAT others(211): Show ATTATTATATAATATAATATATATTATATAATATATATTATTATATAATA TAATATATATTATATAATATATTTTATTATATAATATAATATATATTATA TAATATAATATATTTTATTATATAAATATATATTATATTATATTATATAA TATATATTAATATAAATATATATTATATTATATAATATAATATATATTAT ATAATATAATATATTTTAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	227	0.0044	218	c.-55 others(233): Show c.-55+416_-55+417insTATTATATAATATAATATATATTATATAAT ATATATTATTATATAATATAATATATATTATATAATATATTTTATTATAT AATATAATATATATTATATAATATAATATATTTTATTATATAAATATATA TTATATTATATTATATAATATATATTAATATAAATATATATTATATTATA TAATATAATATATATTATATAATATAATATATTTTATT	OR4F17	ENSG00000176695.8	transcript	ENST00000585993.3	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr19	TogoVar
OR52E6_chr11_5835928_5846897	5844253	T T	TTATATTA others(211): Show TTATATTATATATATTATATATATTATATATATTATATATATAATATATA TTATATATATTATATATAATATATATTATATATAATATATATAATATATA TTATATATAATATATATTATATATAATATATATAATATATATTATATATA ATATATATTATATATAATATATATAATATATATTATATATATTATATATA ATATATAATATATATTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp2 HG01517.hp2 HG03669.hp1 HG01515.hp2 HG01517.hp2 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	3	450	0.0067	218	c.-23 others(229): Show c.-2357_-2356insTATAATATATATTATATATTATATATAATATATA TAATATATATTATATATATTATATATAATATATATTATATATAATATATA TTATATATATTATATATAATATATATTATATATAATATATATTATATATA TTATATATAATATATATTATATATAATATATATAATATATATTATATATA TAATATATATAATATATATAATATATATAATATA	OR52E6	ENSG00000205409.3	transcript	ENST00000329322.5	protein_coding		2357		chr11	TogoVar
OR52E6_chr11_5835928_5846897	5844253	T T	TTATATTA others(211): Show TTATATTATATATATTATATATATTATATATATTATATATATAATATATA TTATATATATTATATATAATATATATTATATATAATATATATTATATATA TTATATATAATATATATTATATATAATATATATAATATATATTATATATA ATATATATTATATATAATATATATAATATATATTATATATAATATATAAT ATATATAATATATATTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0017 a0017	a0017c0009 a0017c0009	a0017c0009t0001 a0017c0009t0001	a0017c0009t0001g0000 a0017c0009t0001g0000	1	450	0.0022	218	c.-23 others(229): Show c.-2357_-2356insTATAATATATATTATATATATTATATATTATATA TAATATATATTATATATATTATATATAATATATATTATATATAATATATA TTATATATATTATATATAATATATATTATATATAATATATATAATATATA TTATATATAATATATATTATATATAATATATATAATATATATTATATATA TAATATATATAATATATATAATATATATAATATA	OR52E6	ENSG00000205409.3	transcript	ENST00000329322.5	protein_coding		2357		chr11	TogoVar
PAK1_chr11_77317017_77479094	77332356	A A	AGGGAAGG others(211): Show AGGGAAGGGGAGGGGAGGGGAGGGGAGGGGGGAGGGGGGGAGGGGAGGGG AGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGG GGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGAGGGGGGAGG GGAGGGGAGGGGGAGGGGAGGGGGAGGGAGGGGGGAGGGGAGGGGAGCGG GAGGGGAGGGGGAGGGAAG	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0270 a0001c0001t0003g0270	1	302	0.0033	218	c.155 others(235): Show c.1551+373_1551+374insCTTCCCTCCCCCTCCCCTCCCGCTCCCC TCCCCTCCCCCCTCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCC TCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCT CCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCC TCCCCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTTCCC	PAK1	ENSG00000149269.10	transcript	ENST00000356341.8	protein_coding	14/14			chr11	TogoVar
PALD1_chr10_70473767_70573450	70554970	T T	TCCTCCCC others(211): Show TCCTCCCCCTCCCCTCCCCCTCCTCCCCTTCCTCCCCTCCCCCTCCTCCC CTTCCTCCCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCCCTCCCCCTC CCCTCCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCACTCCCCTTCCC CTCCCCTCCACTCCCCTTCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTC CCCTCCTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0012 a0012	a0012c0020 a0012c0020	a0012c0020t0009 a0012c0020t0009	a0012c0020t0009g0161 a0012c0020t0009g0161	1	308	0.0033	218	c.226 others(237): Show c.2262+7531_2262+7532insCTCCCCTCCCCCTCCTCCCCTTCCTC CCCTCCCCCTCCTCCCCTTCCTCCCCTCCCCCCTCCTCCCCCCTCCTCCC CCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCACTCCCCTTCCCCTCCC CTCCACTCCCCTTCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCACTC CCCTTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCCC	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
PAPPA_chr9_116148791_116407321	116289260	T T	TATATATG others(211): Show TATATATGCCATATATATAGCATATATATGGCATATATATGCCATATATA TAGCATATATATGGCATATATATGCCATATATATAGCATATATATGGCAT ATATATGCCATATATATAGCATATATATGGCATATATATGCCATATATAT AGCATATATATGGCATATATATGGCATATATATAGCATATATATGGCATA TATATGGCATATATATGCC	intron_variant intron_variant	MODIFIER	HG03669.hp2 NA18995.hp2 HG03669.hp2 NA18995.hp2	a0006 a0017 a0006 a0017	a0006c0008 a0017c0035 a0006c0008 a0017c0035	a0006c0008t0005 a0017c0035t0011 a0006c0008t0005 a0017c0035t0011	a0006c0008t0005g0032 a0017c0035t0011g0078 a0006c0008t0005g0032 a0017c0035t0011g0078	2	234	0.0086	218	c.295 others(239): Show c.2954-13491_2954-13490insGCCATATATATAGCATATATATGG CATATATATGCCATATATATAGCATATATATGGCATATATATGCCATATA TATAGCATATATATGGCATATATATGCCATATATATAGCATATATATGGC ATATATATGCCATATATATAGCATATATATGGCATATATATGGCATATAT ATAGCATATATATGGCATATATATGGCATATATATGCCATATAT	PAPPA	ENSG00000182752.10	transcript	ENST00000328252.4	protein_coding	9/21		INFO_REALIGN_3_PRIME	chr9	TogoVar
PAPPA_chr9_116148791_116407321	116289260	T T	TATATATG others(211): Show TATATATGCCATATATATAGCATATATATGGCATATATATGCCATATATA TAGCATATATATGGCATATATATGCCATATATATAGCATATATATGGCAT ATATATGCCATATATATAGCATATATATGGCATATATATGGCATATATAT AGCATATATATGGCATATATATGGCATATATATAGCATATATATGGCATA TATATGGCATATATATGCC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01257.hp2 HG01258.hp2 others(12): Show HG01255.hp2 HG01257.hp2 HG01258.hp2 HG01433.hp1 HG01516.hp1 HG02135.hp2 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03688.hp1 NA18945.hp1 NA18952.hp2 NA18960.hp1 NA19065.hp2 NA19068.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0002 a0001c0005 others(7): Show a0001c0001 a0001c0002 a0001c0005 a0001c0011 a0001c0036 a0002c0003 a0002c0004 a0002c0009 a0002c0053 a0006c0008	a0001c0001t0001 a0001c0001t0060 a0001c0002t0008 others(9): Show a0001c0001t0001 a0001c0001t0060 a0001c0002t0008 a0001c0002t0031 a0001c0005t0002 a0001c0011t0009 a0001c0036t0005 a0002c0003t0042 a0002c0004t0010 a0002c0009t0002 a0002c0053t0054 a0006c0008t0003	a0001c0001t0001g0184 a0001c0001t0060g0129 a0001c0002t0008g0076 others(12): Show a0001c0001t0001g0184 a0001c0001t0060g0129 a0001c0002t0008g0076 a0001c0002t0008g0212 a0001c0002t0031g0062 a0001c0005t0002g0102 a0001c0011t0009g0096 a0001c0011t0009g0104 a0001c0036t0005g0140 a0002c0003t0042g0055 a0002c0004t0010g0122 a0002c0009t0002g0090 a0002c0009t0002g0091 a0002c0053t0054g0100 a0006c0008t0003g0192	15	234	0.0641	218	c.295 others(239): Show c.2954-13491_2954-13490insGCCATATATATAGCATATATATGG CATATATATGCCATATATATAGCATATATATGGCATATATATGCCATATA TATAGCATATATATGGCATATATATGCCATATATATAGCATATATATGGC ATATATATGGCATATATATAGCATATATATGGCATATATATGGCATATAT ATAGCATATATATGGCATATATATGGCATATATATGCCATATAT	PAPPA	ENSG00000182752.10	transcript	ENST00000328252.4	protein_coding	9/21		INFO_REALIGN_3_PRIME	chr9	TogoVar
PAPPA_chr9_116148791_116407321	116289260	T T	TATATATG others(211): Show TATATATGCCATATATATAGCATATATATGGCATATATATGCCATATATA TAGCATATATATGGCATATATATGCCATATATATAGCATATATATGGCAT ATATATGCCATATATATAGCATATATATGGCATATATATGGCATATATAT AGCATATATATGGCATATATATGGCATATATATAGCATATATATGGCATA TATATGGCATATATATGGC	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0219 a0001c0002t0008g0219	1	234	0.0043	218	c.295 others(239): Show c.2954-13491_2954-13490insGCCATATATATAGCATATATATGG CATATATATGCCATATATATAGCATATATATGGCATATATATGCCATATA TATAGCATATATATGGCATATATATGCCATATATATAGCATATATATGGC ATATATATGGCATATATATAGCATATATATGGCATATATATGGCATATAT ATAGCATATATATGGCATATATATGGCATATATATGGCATATAT	PAPPA	ENSG00000182752.10	transcript	ENST00000328252.4	protein_coding	9/21		INFO_REALIGN_3_PRIME	chr9	TogoVar
PAPPA_chr9_116148791_116407321	116289260	T T	TATATATG others(211): Show TATATATGCCATATATATAGCATATATATGGCATATATATGCCATATATA TGGCATATATATGGCATATATATGCCATATATATAGCATATATATGGCAT ATATATGCCATATATATGGCATATATATGGCATATATATGGCATATATAT AGCATATATATGGCATATATATGGCATATATATAGCATATATATGGCATA TATATGGCATATATATGCC	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0069 a0001c0002t0010g0069	1	234	0.0043	218	c.295 others(239): Show c.2954-13491_2954-13490insGCCATATATATAGCATATATATGG CATATATATGCCATATATATGGCATATATATGGCATATATATGCCATATA TATAGCATATATATGGCATATATATGCCATATATATGGCATATATATGGC ATATATATGGCATATATATAGCATATATATGGCATATATATGGCATATAT ATAGCATATATATGGCATATATATGGCATATATATGCCATATAT	PAPPA	ENSG00000182752.10	transcript	ENST00000328252.4	protein_coding	9/21		INFO_REALIGN_3_PRIME	chr9	TogoVar
PAPPA_chr9_116148791_116407321	116289260	T T	TATATATG others(211): Show TATATATGCCATATATATGCTATATATATGGCATATATATGCCATATATA TAGCATATATATGGCATATATATGCCATATATATAGCATATATATGGCAT ATATATGCCATATATATAGCATATATATGGCATATATATGGCATATATAT AGCATATATATGGCATATATATGGCATATATATAGCATATATATGGCATA TATATGGCATATATATGCC	intron_variant intron_variant	MODIFIER	HG04184.hp1 NA18999.hp1 HG04184.hp1 NA18999.hp1	a0002 a0018 a0002 a0018	a0002c0003 a0018c0055 a0002c0003 a0018c0055	a0002c0003t0001 a0018c0055t0043 a0002c0003t0001 a0018c0055t0043	a0002c0003t0001g0144 a0018c0055t0043g0097 a0002c0003t0001g0144 a0018c0055t0043g0097	2	234	0.0086	218	c.295 others(239): Show c.2954-13491_2954-13490insGCCATATATATGCTATATATATGG CATATATATGCCATATATATAGCATATATATGGCATATATATGCCATATA TATAGCATATATATGGCATATATATGCCATATATATAGCATATATATGGC ATATATATGGCATATATATAGCATATATATGGCATATATATGGCATATAT ATAGCATATATATGGCATATATATGGCATATATATGCCATATAT	PAPPA	ENSG00000182752.10	transcript	ENST00000328252.4	protein_coding	9/21		INFO_REALIGN_3_PRIME	chr9	TogoVar
PCDHGA1_chr5_141325514_141517975	141407491	A A	ATTTCTGT others(211): Show ATTTCTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTG GCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCT CCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGC CCGGCTAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0247 a0003c0004t0001g0247	1	268	0.0037	218	c.242 others(239): Show c.2421+74397_2421+74398insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAG GCTGGACTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGG GTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGC GCCCGCCACTACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTT	PCDHGA1	ENSG00000204956.6	transcript	ENST00000517417.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA2_chr5_141333760_141517975	141407491	A A	ATTTCTGT others(211): Show ATTTCTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTG GCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCT CCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGC CCGGCTAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	272	0.0037	218	c.242 others(239): Show c.2424+66107_2424+66108insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAG GCTGGACTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGG GTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGC GCCCGCCACTACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTT	PCDHGA2	ENSG00000081853.15	transcript	ENST00000394576.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA3_chr5_141338829_141517975	141407491	A A	ATTTCTGT others(211): Show ATTTCTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTG GCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCT CCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGC CCGGCTAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0046 a0003c0003t0001g0046	1	270	0.0037	218	c.242 others(239): Show c.2424+61045_2424+61046insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAG GCTGGACTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGG GTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGC GCCCGCCACTACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTT	PCDHGA3	ENSG00000254245.3	transcript	ENST00000253812.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA4_chr5_141350021_141517975	141407491	A A	ATTTCTGT others(211): Show ATTTCTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTG GCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCT CCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGC CCGGCTAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0246 a0002c0002t0001g0246	1	274	0.0037	218	c.251 others(239): Show c.2514+49881_2514+49882insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAG GCTGGACTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGG GTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGC GCCCGCCACTACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTT	PCDHGA4	ENSG00000262576.3	transcript	ENST00000571252.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA5_chr5_141359162_141517975	141407491	A A	ATTTCTGT others(211): Show ATTTCTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTG GCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCT CCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGC CCGGCTAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0126 a0001c0002t0001g0126	1	292	0.0034	218	c.242 others(239): Show c.2421+40751_2421+40752insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAG GCTGGACTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGG GTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGC GCCCGCCACTACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTT	PCDHGA5	ENSG00000253485.3	transcript	ENST00000518069.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA6_chr5_141368891_141517975	141407491	A A	ATTTCTGT others(211): Show ATTTCTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTG GCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCT CCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGC CCGGCTAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0281 a0001c0002t0001g0281	1	292	0.0034	218	c.242 others(239): Show c.2424+30995_2424+30996insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAG GCTGGACTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGG GTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGC GCCCGCCACTACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTT	PCDHGA6	ENSG00000253731.3	transcript	ENST00000517434.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA7_chr5_141377742_141517975	141407491	A A	ATTTCTGT others(211): Show ATTTCTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTG GCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCT CCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGC CCGGCTAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0268 a0001c0001t0001g0268	1	292	0.0034	218	c.242 others(239): Show c.2424+22179_2424+22180insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAG GCTGGACTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGG GTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGC GCCCGCCACTACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTT	PCDHGA7	ENSG00000253537.3	transcript	ENST00000518325.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA8_chr5_141387633_141517975	141407491	A A	ATTTCTGT others(211): Show ATTTCTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTG GCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCT CCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGC CCGGCTAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	302	0.0033	218	c.242 others(239): Show c.2424+12265_2424+12266insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAG GCTGGACTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGG GTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGC GCCCGCCACTACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTT	PCDHGA8	ENSG00000253767.3	transcript	ENST00000398604.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA9_chr5_141397778_141517975	141407491	A A	ATTTCTGT others(211): Show ATTTCTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTG GCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCT CCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGC CCGGCTAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0293 a0001c0005t0001g0293	1	302	0.0033	218	c.242 others(237): Show c.2424+2126_2424+2127insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGC TGGACTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGT TCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGC CCGCCACTACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTT	PCDHGA9	ENSG00000261934.3	transcript	ENST00000573521.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGB1_chr5_141345099_141517975	141407491	A A	ATTTCTGT others(211): Show ATTTCTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTG GCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCT CCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGC CCGGCTAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0031 a0002c0004t0001g0031	1	278	0.0036	218	c.240 others(239): Show c.2409+54833_2409+54834insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAG GCTGGACTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGG GTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGC GCCCGCCACTACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTT	PCDHGB1	ENSG00000254221.3	transcript	ENST00000523390.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGB2_chr5_141354994_141517975	141407491	A A	ATTTCTGT others(211): Show ATTTCTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTG GCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCT CCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGC CCGGCTAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0275 a0003c0003t0001g0275	1	288	0.0035	218	c.242 others(239): Show c.2421+44946_2421+44947insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAG GCTGGACTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGG GTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGC GCCCGCCACTACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTT	PCDHGB2	ENSG00000253910.3	transcript	ENST00000522605.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGB3_chr5_141365242_141517975	141407491	A A	ATTTCTGT others(211): Show ATTTCTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTG GCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCT CCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGC CCGGCTAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0287 a0003c0003t0001g0287	1	296	0.0034	218	c.241 others(239): Show c.2415+34693_2415+34694insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAG GCTGGACTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGG GTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGC GCCCGCCACTACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTT	PCDHGB3	ENSG00000262209.3	transcript	ENST00000576222.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGB4_chr5_141382698_141517975	141407491	A A	ATTTCTGT others(211): Show ATTTCTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTG GCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCT CCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGC CCGGCTAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	294	0.0034	218	c.239 others(239): Show c.2397+17221_2397+17222insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAG GCTGGACTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGG GTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGC GCCCGCCACTACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTT	PCDHGB4	ENSG00000253953.3	transcript	ENST00000519479.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGB5_chr5_141392947_141517975	141407491	A A	ATTTCTGT others(211): Show ATTTCTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTG GCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCT CCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGC CCGGCTAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0028 a0004c0005t0002g0028	1	300	0.0033	218	c.239 others(237): Show c.2397+6978_2397+6979insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGC TGGACTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGT TCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGC CCGCCACTACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTT	PCDHGB5	ENSG00000276547.2	transcript	ENST00000617380.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGB6_chr5_141403021_141517975	141407491	A A	ATTTCTGT others(211): Show ATTTCTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTG GCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCT CCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGC CCGGCTAATTTTTTGCATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0165 a0002c0003t0001g0165	1	302	0.0033	218	c.-71 others(227): Show c.-712_-711insTTTCTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG CTGGACTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGG TTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCG CCCGCCACTACGCCCGGCTAATTTTTTGCATT	PCDHGB6	ENSG00000253305.3	transcript	ENST00000520790.2	protein_coding		529		chr5	TogoVar
PCSK6_chr15_101298933_101494707	101493369	T T	TTCCCTCC others(211): Show TTCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCA CTTCCCCTCCCTCTCCCCTGCCCTCCCCTCCCCCTCCCTCATCCCCTCCC CCCTCCCCCTCCCCCTCCCCTCCCCCATCCCCTCCCCACTCCCCCTCCCC CTCCCCACTCCCCCTCCCCCTCCCCTGCCCTCCCCCTCCCCTCCCCTCCC CCTCCCCTCCCCCTCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0191 a0001c0005t0001g0191	1	336	0.0030	218	c.-37 others(229): Show c.-3700_-3699insGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAG GGGGAGGGCAGGGGAGGGGGAGGGGGAGTGGGGAGGGGGAGGGGGAGTGG GGAGGGGATGGGGGAGGGGAGGGGGAGGGGGAGGGGGGAGGGGATGAGGG AGGGGGAGGGGAGGGCAGGGGAGAGGGAGGGGAAGTGGGGAGGGGAGGGG GAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGA	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding		3663		chr15	TogoVar
PDIA6_chr2_10778391_10817785	10806628	C C	CGAAAGAA others(211): Show CGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGGAAAAGAAAAGAAA AAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0190 a0002c0002t0001g0190	1	342	0.0029	218	c.20- others(233): Show c.20-3989_20-3988insTTCTTTCTTTCTTTCTTTTTTTCTTTTCTT TTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	PDIA6	ENSG00000143870.13	transcript	ENST00000272227.8	protein_coding	1/12			chr2	TogoVar
PDXK_chr21_43714129_43767299	43741151	G G	GGCGGGGG others(211): Show GGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGG GGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGG CTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTC GCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGG GGGGCTCGCGGGGGGGCTC	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0077 a0001c0002t0003g0077	1	358	0.0028	218	c.143 others(233): Show c.143-497_143-496insCTCGCGGGGGGCTCGCGGGGGGCTCGCGGG GGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGG CTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTC GCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGG GGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PELI3_chr11_66461905_66482337	66462139	A A	AGGGAGGG others(211): Show AGGGAGGGGAAGGGAAGGTGGGGGAAGGGGAGGCGGAGGGGAAGGAGAAG GGGGAAGGGGAGGGGAGGAGAGGGGGAGGGGGAGGGGAAGGGAAGGGGGA GGGGGAGGAGAAGTGGGAGAGGAAGGGGAAGGGAAGGGGGAGGGGGAGGA GGAGTGGGAGGGGAAGGGGAGGGGAAGGGGAAGAGGAAGGGGAAGGGAAA GGGAAAGGGGAAGGGGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0068 a0001c0003t0014g0068	1	396	0.0025	218	c.-48 others(229): Show c.-4890_-4889insGGGAGGGGAAGGGAAGGTGGGGGAAGGGGAGGCG GAGGGGAAGGAGAAGGGGGAAGGGGAGGGGAGGAGAGGGGGAGGGGGAGG GGAAGGGAAGGGGGAGGGGGAGGAGAAGTGGGAGAGGAAGGGGAAGGGAA GGGGGAGGGGGAGGAGGAGTGGGAGGGGAAGGGGAGGGGAAGGGGAAGAG GAAGGGGAAGGGAAAGGGAAAGGGGAAGGGGAGG	PELI3	ENSG00000174516.15	transcript	ENST00000320740.12	protein_coding		4765		chr11	TogoVar

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