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
PITPNM3_chr17_6446263_6561555	6561108	T T	TCTCTTCT others(91): Show TCTCTTCTTTCTCCCCTCCTCCTCTTCCTCCTTCTCCCCTCCTCCTCTTC CTCATCCTCCTCCCCTCCTCTTCCTCCTTCTCATCCTCCTTCCCTCTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp1 HG01081.hp2 HG02630.hp2 others(2): Show HG01081.hp1 HG01081.hp2 HG02630.hp2 HG02809.hp2 HG02897.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0005 a0001c0001t0010 a0001c0001t0014 others(2): Show a0001c0001t0005 a0001c0001t0010 a0001c0001t0014 a0001c0002t0056 a0002c0004t0033	a0001c0001t0005g0130 a0001c0001t0010g0127 a0001c0001t0014g0030 others(2): Show a0001c0001t0005g0130 a0001c0001t0010g0127 a0001c0001t0014g0030 a0001c0002t0056g0217 a0002c0004t0033g0216	5	23	0.2174	98	c.-47 others(109): Show c.-4703_-4702insGAAGAGGGAAGGAGGATGAGAAGGAGGAAGAGGA GGGGAGGAGGATGAGGAAGAGGAGGAGGGGAGAAGGAGGAAGAGGAGGAG GGGAGAAAGAAGAG	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding		4554		chr17	TogoVar
PJA2_chr5_109329722_109414974	109353727	T T	TATTATAT others(91): Show TATTATATCTACAGACATCTATATATTAGATACCTATATCTAGATATCTA GATTAGATATCTATGATATCTAGAGATATCTATAGATTAGATATCTATG	intron_variant intron_variant	MODIFIER	HG02451.hp1 NA18522.hp1 HG02451.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0001 a0001c0001t0007g0001	2	324	0.0062	98	c.176 others(117): Show c.1764+2187_1764+2188insCATAGATATCTAATCTATAGATATCT CTAGATATCATAGATATCTAATCTAGATATCTAGATATAGGTATCTAATA TATAGATGTCTGTAGATATAAT	PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	7/9			chr5	TogoVar
PJA2_chr5_109329722_109414974	109353727	T T	TATTATAT others(91): Show TATTATATCTACAGACATCTATATATTAGATACCTATATCTAGATATCTA GATTAGATATCTATGATATCTAGAGATATCTATAGATTAGATGTCTATG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0001 a0001c0001t0007g0001	1	323	0.0031	98	c.176 others(117): Show c.1764+2187_1764+2188insCATAGACATCTAATCTATAGATATCT CTAGATATCATAGATATCTAATCTAGATATCTAGATATAGGTATCTAATA TATAGATGTCTGTAGATATAAT	PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	7/9			chr5	TogoVar
PKD2L1_chr10_100283149_100335228	100314975	G G	GGGAAGGG others(91): Show GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0282 a0001c0001t0001g0282	1	277	0.0036	98	c.349 others(117): Show c.349+14235_349+14236insTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCC	PKD2L1	ENSG00000107593.17	transcript	ENST00000318222.4	protein_coding	2/15			chr10	TogoVar
PKD2L1_chr10_100283149_100335228	100314975	G G	GGGAAGGG others(91): Show GGGAAGGGGAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03209.hp2 HG02965.hp2 HG03209.hp2	a0004 a0004	a0004c0005 a0004c0022 a0004c0005 a0004c0022	a0004c0005t0001 a0004c0022t0001 a0004c0005t0001 a0004c0022t0001	a0004c0005t0001g0211 a0004c0022t0001g0222 a0004c0005t0001g0211 a0004c0022t0001g0222	2	278	0.0072	98	c.349 others(117): Show c.349+14235_349+14236insTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTCCCCTTCC	PKD2L1	ENSG00000107593.17	transcript	ENST00000318222.4	protein_coding	2/15			chr10	TogoVar
PKD2L1_chr10_100283149_100335228	100314983	G G	GGGAAGGG others(91): Show GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02109.hp2 HG01192.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0272 a0001c0001t0001g0080 a0001c0001t0001g0272	2	216	0.0093	98	c.349 others(117): Show c.349+14227_349+14228insTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCC	PKD2L1	ENSG00000107593.17	transcript	ENST00000318222.4	protein_coding	2/15			chr10	TogoVar
PLCB1_chr20_8127266_8889900	8541562	G G	GAGAAAGA others(91): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAGAAAGAAAGAAAAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0026 a0001c0002t0004g0026	1	27	0.0370	98	c.247 others(117): Show c.247-86686_247-86685insAAAGAAAGAAAGAAAGAAGAAAGAAA GAAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAG	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	3/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
PLCXD1_chrX_276381_308356	280698	G G	GGGAGGCC others(91): Show GGGAGGCCGTGCAGGCAGAGGGGAAGACGTGCAGGGGAGGGAGGCCGTGC AGGAGGAGGGGAGGCCGTGCAGGGGGGCAGCGGAGGCCGTGCAGGGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0079 a0001c0001t0079	a0001c0001t0079g0106 a0001c0001t0079g0106	1	172	0.0058	98	c.-10 others(109): Show c.-1008_-1007insGGAGGCCGTGCAGGCAGAGGGGAAGACGTGCAGG GGAGGGAGGCCGTGCAGGAGGAGGGGAGGCCGTGCAGGGGGGCAGCGGAG GCCGTGCAGGGGAA	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding		682		chrX	TogoVar
PLCXD1_chrX_276381_308356	296916	C C	CCATTATT others(91): Show CCATTATTCTGTCTCCCACATGGGGATTAGGACGTGGACATCTTTGGGGC CATTATTCTGTCTATCACATGGGGATTAGGACGTGGACATCTTTGGGGA	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0092 a0001c0002t0092	a0001c0002t0092g0146 a0001c0002t0092g0146	1	73	0.0137	98	c.734 others(115): Show c.734-2168_734-2167insCCCACATGGGGATTAGGACGTGGACATC TTTGGGGCCATTATTCTGTCTATCACATGGGGATTAGGACGTGGACATCT TTGGGGACATTATTCTGTCT	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
PLCXD1_chrX_276381_308356	297129	A A	ACATGGGG others(91): Show ACATGGGGATTACGACATGGACATCTTTGGGGACATTATTCTGTCTATCA CATGGGGATTAGGACGTGGACATCTTTGGGGCCATTATTCTGTCTACCT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0101 a0001c0003t0101	a0001c0003t0101g0109 a0001c0003t0101g0109	1	80	0.0125	98	c.734 others(115): Show c.734-1957_734-1956insCGACATGGACATCTTTGGGGACATTATT CTGTCTATCACATGGGGATTAGGACGTGGACATCTTTGGGGCCATTATTC TGTCTACCTCATGGGGATTA	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
PLCXD1_chrX_276381_308356	297178	A A	ACATGGGG others(91): Show ACATGGGGATTAGGACGTGGACATCTTTGGGGACATTATTCTGTCTATCA CATGGGGATTAGGACGTGGACATCTTTGGGGCCATTATTCTGTCTACCT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0026 a0002c0016t0026	a0002c0016t0026g0148 a0002c0016t0026g0148	1	167	0.0060	98	c.734 others(115): Show c.734-1839_734-1838insCCATTATTCTGTCTACCTCATGGGGATT AGGACGTGGACATCTTTGGGGACATTATTCTGTCTATCACATGGGGATTA GGACGTGGACATCTTTGGGG	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
PLCXD1_chrX_276381_308356	298148	T T	TCTGTCTA others(91): Show TCTGTCTATCACATTGGGATTAGGACGTGGACATCTTTGGGGCCATTATC CTGTCTATCACATGGGGATTAGGACGTGGACATCTTTGGGGCCATTATC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0053 a0001c0003t0053	a0001c0003t0053g0105 a0001c0003t0053g0105	1	170	0.0059	98	c.734 others(113): Show c.734-936_734-935insTGGGATTAGGACGTGGACATCTTTGGGGCC ATTATCCTGTCTATCACATGGGGATTAGGACGTGGACATCTTTGGGGCCA TTATCCTGTCTATCACAT	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
PLCXD1_chrX_276381_308356	298158	A A	ACATGGGG others(91): Show ACATGGGGATTAGGACGTGGACATCTTTGGGGACATTATTCTGTCTATCA CATGGGGATTAGGACGTGGACATCTTTGGGGCCATTATCCTGTCTACCT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0057 a0001c0003t0057	a0001c0003t0057g0104 a0001c0003t0057g0104	1	172	0.0058	98	c.734 others(113): Show c.734-894_734-893insATCACATGGGGATTAGGACGTGGACATCTT TGGGGCCATTATCCTGTCTACCTCATGGGGATTAGGACGTGGACATCTTT GGGGACATTATTCTGTCT	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
PLEKHN1_chr1_961482_980865	977809	A A	ACTCCCCC others(91): Show ACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCC GGGAACCGCCTCCCACTCCCCCCACCAACCCGGGAACCGCCTCCCACTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0001 a0003c0003t0001g0001	1	254	0.0039	98	c.32 others(109): Show c.3234_*3235insCTCCCCCCACCAACCCCGGGAACCGCCTCCCACT CCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCGGGA ACCGCCTCCCACTC	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1945		chr1	TogoVar
PLPP1_chr5_55419854_55539964	55475196	T T	TACATTGT others(91): Show TACATTGTTTTTGGAGGATTACACATTTAAGCATTAAAAGAGTAACAGAA AATTAAGCCAAGTGCCCAAAAGTTATAAACTTGGAAAAGTGGATTTAAC	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	292	0.0034	98	c.210 others(111): Show c.210+5_210+102dupGTTAAATCCACTTTTCCAAGTTTATAACTTTT GGGCACTTGGCTTAATTTTCTGTTACTCTTTTAATGCTTAAATGTGTAAT CCTCCAAAAACAATGT	PLPP1	ENSG00000067113.17	transcript	ENST00000307259.9	protein_coding	2/5			chr5	TogoVar
PLVAP_chr19_17346455_17382342	17349167	T T	TTTCTTTC others(91): Show TTTCTTTCTTTCTTTCTTTCTTTCTTCTTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0073 a0001c0001t0002g0073	1	430	0.0023	98	c.31 others(109): Show c.3194_*3195insGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGAAAGAAAG AAAGAAAGAAAGAA	PLVAP	ENSG00000130300.9	transcript	ENST00000252590.9	protein_coding		2287		chr19	TogoVar
PLVAP_chr19_17346455_17382342	17349195	T T	TTTCTTTC others(91): Show TTTCTTTCTTTCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0089 a0001c0001t0002g0089	1	419	0.0024	98	c.31 others(109): Show c.3166_*3167insGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAA GAAGAAAGAAAGAA	PLVAP	ENSG00000130300.9	transcript	ENST00000252590.9	protein_coding		2259		chr19	TogoVar
PNPLA7_chr9_137454952_137555402	137466772	G G	GCCTCCCA others(91): Show GCCTCCCACCACCGTCTCCACCAACTCAGACCCGGGCACGGATCAGACCG CCTCCCACCACCGTCTCCATCACCTCAGACCCGGGCACGGATCAGACCA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03471.hp1 NA18906.hp2 HG03225.hp2 HG03471.hp1 NA18906.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0155 a0002c0004t0001g0171 a0002c0004t0001g0180 a0002c0004t0001g0155 a0002c0004t0001g0171 a0002c0004t0001g0180	3	182	0.0165	98	c.303 others(115): Show c.3039+544_3039+545insTGGTCTGATCCGTGCCCGGGTCTGAGGT GATGGAGACGGTGGTGGGAGGCGGTCTGATCCGTGCCCGGGTCTGAGTTG GTGGAGACGGTGGTGGGAGG	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	26/34			chr9	TogoVar
PNPLA7_chr9_137454952_137555402	137466844	C C	CCTCAGAC others(91): Show CCTCAGACCCGGGCACGGATCAGACCACCTCCCACCACCATCTCCACCAA CTCAGACCCGGGCACGGATCAGACCACCTCCCACCACCGTCTCCACCAA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0181 a0005c0007t0001g0181	1	69	0.0145	98	c.303 others(115): Show c.3039+472_3039+473insTTGGTGGAGACGGTGGTGGGAGGTGGTC TGATCCGTGCCCGGGTCTGAGTTGGTGGAGATGGTGGTGGGAGGTGGTCT GATCCGTGCCCGGGTCTGAG	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	26/34			chr9	TogoVar
PNPLA7_chr9_137454952_137555402	137466844	C C	CCTCAGAC others(91): Show CCTCAGACCCGGGCACGGATCAGACCACCTCCCACCACCGTCTCCACCAA CTCAGACCCGGGCACGGATCAGACCACCTCCCACCACCGTCTCCACCAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp1 HG00544.hp1 others(93): Show HG00140.hp1 HG00423.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00738.hp2 HG01071.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp2 HG01243.hp1 HG01261.hp1 HG01361.hp1 HG01361.hp2 HG01496.hp2 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02083.hp1 HG02109.hp1 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02155.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02293.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02897.hp1 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03209.hp1 HG03209.hp2 HG03239.hp2 HG03579.hp2 HG03704.hp1 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04228.hp2 NA18747.hp2 NA18940.hp1 NA18940.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18951.hp2 NA18995.hp1 NA19007.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19080.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA21309.hp2	a0001 a0002 a0003 others(14): Show a0001 a0002 a0003 a0004 a0005 a0007 a0009 a0011 a0012 a0014 a0015 a0016 a0017 a0025 a0029 a0031 a0033	a0001c0001 a0001c0002 a0001c0006 others(25): Show a0001c0001 a0001c0002 a0001c0006 a0001c0024 a0001c0040 a0001c0046 a0002c0003 a0002c0015 a0002c0026 a0003c0008 a0003c0020 a0003c0025 a0003c0057 a0004c0005 a0005c0007 a0005c0053 a0007c0009 a0009c0013 a0011c0012 a0012c0019 a0014c0022 a0015c0014 a0016c0048 a0017c0049 a0025c0044 a0029c0056 a0031c0059 a0033c0058	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(30): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0002t0001 a0001c0002t0004 a0001c0006t0002 a0001c0024t0001 a0001c0040t0001 a0001c0046t0001 a0002c0003t0001 a0002c0003t0004 a0002c0015t0001 a0002c0026t0001 a0003c0008t0001 a0003c0020t0001 a0003c0025t0001 a0003c0057t0001 a0004c0005t0001 a0005c0007t0001 a0005c0053t0001 a0007c0009t0001 a0009c0013t0001 a0011c0012t0001 a0012c0019t0001 a0014c0022t0001 a0015c0014t0001 a0016c0048t0001 a0017c0049t0001 a0025c0044t0001 a0029c0056t0001 a0031c0059t0001 a0033c0058t0001	a0001c0001t0001g0031 a0001c0001t0001g0037 a0001c0001t0001g0044 others(93): Show a0001c0001t0001g0031 a0001c0001t0001g0037 a0001c0001t0001g0044 a0001c0001t0001g0049 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0101 a0001c0001t0001g0107 a0001c0001t0001g0113 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0157 a0001c0001t0004g0188 a0001c0001t0005g0001 a0001c0001t0006g0002 a0001c0002t0001g0003 a0001c0002t0001g0006 a0001c0002t0001g0046 a0001c0002t0001g0055 a0001c0002t0001g0085 a0001c0002t0001g0090 a0001c0002t0001g0106 a0001c0002t0001g0114 a0001c0002t0001g0117 a0001c0002t0001g0133 a0001c0002t0001g0140 a0001c0002t0004g0187 a0001c0006t0002g0098 a0001c0006t0002g0161 a0001c0006t0002g0162 a0001c0006t0002g0170 a0001c0024t0001g0011 a0001c0040t0001g0139 a0001c0046t0001g0082 a0002c0003t0001g0004 a0002c0003t0001g0005 a0002c0003t0001g0017 a0002c0003t0001g0033 a0002c0003t0001g0041 a0002c0003t0001g0069 a0002c0003t0001g0072 a0002c0003t0001g0073 a0002c0003t0001g0078 a0002c0003t0001g0134 a0002c0003t0004g0186 a0002c0015t0001g0100 a0002c0015t0001g0173 a0002c0026t0001g0160 a0003c0008t0001g0014 a0003c0008t0001g0087 a0003c0008t0001g0091 a0003c0008t0001g0159 a0003c0020t0001g0125 a0003c0020t0001g0126 a0003c0025t0001g0012 a0003c0057t0001g0176 a0004c0005t0001g0028 a0004c0005t0001g0038 a0004c0005t0001g0040 a0004c0005t0001g0094 a0004c0005t0001g0095 a0005c0007t0001g0018 a0005c0007t0001g0019 a0005c0007t0001g0182 a0005c0053t0001g0132 a0007c0009t0001g0115 a0007c0009t0001g0116 a0007c0009t0001g0152 a0009c0013t0001g0163 a0011c0012t0001g0166 a0012c0019t0001g0020 a0012c0019t0001g0022 a0014c0022t0001g0174 a0014c0022t0001g0178 a0015c0014t0001g0168 a0016c0048t0001g0013 a0017c0049t0001g0136 a0025c0044t0001g0102 a0029c0056t0001g0167 a0031c0059t0001g0092 a0033c0058t0001g0075	96	164	0.5854	98	c.303 others(115): Show c.3039+472_3039+473insTTGGTGGAGACGGTGGTGGGAGGTGGTC TGATCCGTGCCCGGGTCTGAGTTGGTGGAGACGGTGGTGGGAGGTGGTCT GATCCGTGCCCGGGTCTGAG	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	26/34			chr9	TogoVar
PNPLA7_chr9_137454952_137555402	137551649	C C	CAGCCCCG others(91): Show CAGCCCCGCCCCGCGAGCCCCGCCCCGCGAGCCCCGCCCCGCGAGCCCCG CCCCGCGAGCCCCGCCCCGCGAGCCCCGCCCCGCGAGCCCCGCCCCGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG00738.hp2 HG02630.hp2 others(1): Show HG00558.hp2 HG00738.hp2 HG02630.hp2 NA18747.hp2	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0001c0002 a0004c0005 others(1): Show a0001c0001 a0001c0002 a0004c0005 a0005c0007	a0001c0001t0001 a0001c0002t0001 a0004c0005t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0004c0005t0001 a0005c0007t0001	a0001c0001t0001g0037 a0001c0002t0001g0055 a0004c0005t0001g0028 others(1): Show a0001c0001t0001g0037 a0001c0002t0001g0055 a0004c0005t0001g0028 a0005c0007t0001g0019	4	104	0.0385	98	c.-14 others(109): Show c.-1453_-1452insCGCGGGGCGGGGCTCGCGGGGCGGGGCTCGCGGG GCGGGGCTCGCGGGGCGGGGCTCGCGGGGCGGGGCTCGCGGGGCGGGGCT CGCGGGGCGGGGCT	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding		1248		chr9	TogoVar
POLD1_chr19_50379347_50423014	50401357	G G	GTGTATAT others(91): Show GTGTATATGTGTATATATATATGTATATGTGTATATATATATATATGTAT ATGTGTATATATATATATATATGTATATGTGTGTGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0014 a0001c0009t0001g0014	1	321	0.0031	98	c.317 others(113): Show c.317-400_317-399insGTATATGTGTATATATATATATATGTATAT GTGTATATATATATATATATGTATATGTGTGTGTATATATATATATATGT ATATGTGTATATATATAT	POLD1	ENSG00000062822.16	transcript	ENST00000440232.7	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr19	TogoVar
POLG_chr15_89311320_89339824	89325199	T T	TGAGTGAG others(91): Show TGAGTGAGAGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTG AGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0153 a0002c0002t0001g0153	1	368	0.0027	98	c.194 others(115): Show c.1949+250_1949+251insTCACTCACTCACTCACTCACTCACTCTC TCACTCACTCACTCACTCACTCACTCTCTCACTCACTCACTCTCTCACTC TCTCACTCACTCTCTCACTC	POLG	ENSG00000140521.18	transcript	ENST00000268124.11	protein_coding	10/22			chr15	TogoVar
POLR3H_chr22_41520799_41549470	41544422	A A	ACGCACCG others(91): Show ACGCACCGCGCACCGCGCACCGCGCACCGCGCACCGCGCACCGCGCACCG CGCACCGCGCACCGCGCACCGCGCACCGCGCACCGCGCACCGCGCACCG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0018 a0001c0001t0011g0018	1	379	0.0026	98	c.-32 others(107): Show c.-322_-321insCGGTGCGCGGTGCGCGGTGCGCGGTGCGCGGTGCGC GGTGCGCGGTGCGCGGTGCGCGGTGCGCGGTGCGCGGTGCGCGGTGCGCG GTGCGCGGTGCG	POLR3H	ENSG00000100413.17	transcript	ENST00000355209.9	protein_coding	1/6	322		chr22	TogoVar
POR_chr7_75910155_75991855	75952072	T T	TGGCTGGC others(91): Show TGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGC GGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02258.hp2 HG02970.hp2 others(2): Show HG01884.hp1 HG02258.hp2 HG02970.hp2 NA18522.hp2 NA20129.hp1	a0001 a0001	a0001c0006 a0001c0009 a0001c0006 a0001c0009	a0001c0006t0001 a0001c0009t0001 a0001c0006t0001 a0001c0009t0001	a0001c0006t0001g0006 a0001c0009t0001g0002 a0001c0009t0001g0003 others(2): Show a0001c0006t0001g0006 a0001c0009t0001g0002 a0001c0009t0001g0003 a0001c0009t0001g0004 a0001c0009t0001g0005	5	265	0.0189	98	c.-13 others(115): Show c.-13-1873_-13-1872insAGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACC CCCCCACCTCCCTCCCGGAC	POR	ENSG00000127948.17	transcript	ENST00000461988.6	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
POR_chr7_75910155_75991855	75952116	C C	CAGGGCGG others(91): Show CAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGAT GGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02572.hp2 HG02886.hp1 others(1): Show HG01243.hp2 HG02572.hp2 HG02886.hp1 HG03195.hp1	a0001 a0001	a0001c0006 a0001c0007 a0001c0006 a0001c0007	a0001c0006t0001 a0001c0007t0001 a0001c0006t0001 a0001c0007t0001	a0001c0006t0001g0236 a0001c0006t0001g0237 a0001c0007t0001g0238 others(1): Show a0001c0006t0001g0236 a0001c0006t0001g0237 a0001c0007t0001g0238 a0001c0007t0001g0239	4	275	0.0145	98	c.-13 others(115): Show c.-13-1873_-13-1872insAGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACC CCCCCACCTCCCTCCCGGAT	POR	ENSG00000127948.17	transcript	ENST00000461988.6	protein_coding	1/15			chr7	TogoVar
POTEM_chr14_18962434_19008752	18969357	G G	GTGTGTAT others(91): Show GTGTGTATATATATATATACACACATGTATATATATGTATATACGTATAT ATACGTATATACATATATATACATGTGTGTGTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0016 a0016	a0016c0011 a0016c0011	a0016c0011t0019 a0016c0011t0019	a0016c0011t0019g0039 a0016c0011t0019g0039	1	17	0.0588	98	c.521 others(115): Show c.521+1352_521+1353insGTGTATATATATATATACACACATGTAT ATATATGTATATACGTATATATACGTATATACATATATATACATGTGTGT GTGTATATATATATATATAT	POTEM	ENSG00000222036.8	transcript	ENST00000547889.6	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
POTEM_chr14_18962434_19008752	18969357	G G	GTGTGTAT others(91): Show GTGTGTATATATATATATACACACATGTATATATATGTATATACGTATAT ATACGTATATACATATATATACGTGTGTGTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0011 a0011	a0011c0009 a0011c0009	a0011c0009t0002 a0011c0009t0002	a0011c0009t0002g0032 a0011c0009t0002g0032	1	17	0.0588	98	c.521 others(115): Show c.521+1352_521+1353insGTGTATATATATATATACACACATGTAT ATATATGTATATACGTATATATACGTATATACATATATATACGTGTGTGT GTATATATATATATATATAT	POTEM	ENSG00000222036.8	transcript	ENST00000547889.6	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
PPFIA2_chr12_81252975_81764350	81642675	G G	GTATGTAT others(91): Show GTATGTATATATTATATACATACATGTATGTATATATTATATACATACAT GTATGTATATAATATATACATAATGTATGTATATATTATATACATACAT	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0016 a0001c0002t0006g0016	1	164	0.0061	98	c.303 others(117): Show c.303+34115_303+34116insATGTATGTATATAATATATACATACA TTATGTATATATTATATACATACATGTATGTATATAATATATACATACAT GTATGTATATAATATATACATA	PPFIA2	ENSG00000139220.17	transcript	ENST00000549396.6	protein_coding	4/32			chr12	TogoVar
PPM1L_chr3_160751231_161083902	160944803	A A	ATATATAT others(91): Show ATATATATATATATTATATATAATATATATATTATATATATATATTATAT ATAACATATATACATATATATGTTATATAACATATATACATATATATGT	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	136	0.0074	98	c.400 others(117): Show c.400-16927_400-16926insTATATATTATATATAATATATATATT ATATATATATATTATATATAACATATATACATATATATGTTATATAACAT ATATACATATATATGTTATATA	PPM1L	ENSG00000163590.14	transcript	ENST00000498165.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
PPP4R2_chr3_72991811_73074198	73004950	T T	TGTGTGTG others(91): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTTTGTTTGTGTGTGTGTGTTTTGA GTCGGAGTCGTGTGTGTGTGTTTGTGTGTGTGTGTTTTGAGTCGGAGTC	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0065 a0001c0002t0010g0065	1	358	0.0028	98	c.116 others(115): Show c.116+6818_116+6819insTTGTTTGTGTGTGTGTGTTTTGAGTCGG AGTCGTGTGTGTGTGTTTGTGTGTGTGTGTTTTGAGTCGGAGTCGTGTGT GTGTGTGTGTGTGTGTGTGT	PPP4R2	ENSG00000163605.16	transcript	ENST00000356692.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr3	TogoVar
PRDM15_chr21_41793225_41884344	41814357	T T	TGGCTGTG others(91): Show TGGCTGTGTGTTAGTGATTGCGCAGGGTGCTCTAGTGTTTTATGAGAATG CCTCGTGTTAGTGATTGCGCAGGGTGCTCTAGTGTTTTATAAGATCTTG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03579.hp1 HG02109.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0150 a0001c0001t0016g0152 a0001c0001t0016g0150 a0001c0001t0016g0152	2	404	0.0050	98	c.239 others(117): Show c.2392+1347_2392+1348insCAAGATCTTATAAAACACTAGAGCAC CCTGCGCAATCACTAACACGAGGCATTCTCATAAAACACTAGAGCACCCT GCGCAATCACTAACACACAGCC	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	19/23			chr21	TogoVar
PRIM2_chr6_57312630_57651850	57470428	C C	CCCCTCTC others(91): Show CCCCTCTCCCCTCTCCCCCTCTCCCCTCTCCCCCTCTCCCCTCTCCCCCT CTCCCCTCTCCCCCTCTCCCCTCTCCCCCTCTCCCCCTCTCCCCTCTCT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0008 a0001c0001t0004g0008	1	207	0.0048	98	c.694 others(117): Show c.694-36927_694-36926insCTCTCCCCTCTCCCCCTCTCCCCTCT CCCCCTCTCCCCTCTCCCCCTCTCCCCCTCTCCCCTCTCTCCCTCTCCCC TCTCCCCCTCTCCCCTCTCCCC	PRIM2	ENSG00000146143.19	transcript	ENST00000615550.5	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
PRIMA1_chr14_93713298_93793485	93722773	A A	AAGATGGT others(91): Show AAGATGGTGAAGGTCATATTGGTGGTGGTGATGGTGATAATGATGGTGGA GGTGGTATTGGTGGTGGTGATGTGGTGGTAGAGGTGGCAATGGCGGTGG	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0371 a0001c0001t0023g0371	1	40	0.0250	98	c.360 others(115): Show c.360-1228_360-1227insCCACCGCCATTGCCACCTCTACCACCAC ATCACCACCACCAATACCACCTCCACCATCATTATCACCATCACCACCAC CAATATGACCTTCACCATCT	PRIMA1	ENSG00000175785.13	transcript	ENST00000393140.6	protein_coding	4/4			chr14	TogoVar
PRIMA1_chr14_93713298_93793485	93722773	A A	ATGATGGT others(91): Show ATGATGGTGAAGGTCATATTGGTGGTGGTGATGGTGATAATGATGGTGGA GGTGGTATTGGTGGTGGTGATATGGTGGTAGAGGTGGCAATGGCGGTGG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02055.hp1 HG02895.hp1 others(3): Show HG01884.hp1 HG02055.hp1 HG02895.hp1 HG02896.hp1 HG02970.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006	a0001c0001t0009 a0001c0002t0030 a0001c0003t0019 others(1): Show a0001c0001t0009 a0001c0002t0030 a0001c0003t0019 a0001c0006t0009	a0001c0001t0009g0113 a0001c0001t0009g0330 a0001c0002t0030g0263 others(3): Show a0001c0001t0009g0113 a0001c0001t0009g0330 a0001c0002t0030g0263 a0001c0003t0019g0202 a0001c0006t0009g0213 a0001c0006t0009g0221	6	45	0.1333	98	c.360 others(115): Show c.360-1228_360-1227insCCACCGCCATTGCCACCTCTACCACCAT ATCACCACCACCAATACCACCTCCACCATCATTATCACCATCACCACCAC CAATATGACCTTCACCATCA	PRIMA1	ENSG00000175785.13	transcript	ENST00000393140.6	protein_coding	4/4			chr14	TogoVar
PRIMA1_chr14_93713298_93793485	93722773	A A	ATGATGGT others(91): Show ATGATGGTGAAGGTCATATTGGTGGTGGTGATGGTGATAATGATGGTGGA GGTGGTATTGGTGGTGGTGATGTGGTGGTAGAGGTGGCAATGGCGGTGG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(345): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18990.hp1 NA18990.hp2 NA18993.hp2 NA18995.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA19086.hp2 NA19087.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0002c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(51): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0021 a0001c0001t0025 a0001c0001t0028 a0001c0001t0029 a0001c0001t0032 a0001c0001t0033 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0020 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0006 a0001c0003t0007 a0001c0003t0008 a0001c0003t0010 a0001c0003t0011 a0001c0003t0012 a0001c0003t0014 a0001c0003t0022 a0001c0003t0031 a0001c0003t0034 a0001c0004t0001 a0001c0004t0004 a0001c0004t0005 a0001c0005t0001 a0001c0005t0004 a0001c0005t0005 a0001c0005t0026 a0001c0005t0027 a0001c0006t0001 a0001c0006t0002 a0001c0006t0003 a0001c0006t0006 a0001c0006t0007 a0001c0006t0008 a0001c0006t0013 a0001c0006t0015 a0001c0006t0017 a0001c0006t0024 a0002c0007t0002	a0001c0001t0001g0138 a0001c0001t0001g0146 a0001c0001t0001g0275 others(333): Show a0001c0001t0001g0138 a0001c0001t0001g0146 a0001c0001t0001g0275 a0001c0001t0001g0353 a0001c0001t0001g0373 a0001c0001t0002g0003 a0001c0001t0002g0008 a0001c0001t0002g0011 a0001c0001t0002g0030 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0112 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0128 a0001c0001t0002g0135 a0001c0001t0002g0137 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0150 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0159 a0001c0001t0002g0169 a0001c0001t0002g0175 a0001c0001t0002g0206 a0001c0001t0002g0208 a0001c0001t0002g0222 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0282 a0001c0001t0002g0300 a0001c0001t0002g0319 a0001c0001t0002g0340 a0001c0001t0002g0349 a0001c0001t0002g0361 a0001c0001t0002g0362 a0001c0001t0002g0363 a0001c0001t0002g0366 a0001c0001t0002g0379 a0001c0001t0002g0380 a0001c0001t0002g0382 a0001c0001t0003g0046 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0116 a0001c0001t0003g0118 a0001c0001t0003g0122 a0001c0001t0003g0163 a0001c0001t0003g0164 a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0003g0173 a0001c0001t0003g0178 a0001c0001t0003g0251 a0001c0001t0003g0265 a0001c0001t0003g0295 a0001c0001t0003g0298 a0001c0001t0003g0299 a0001c0001t0003g0318 a0001c0001t0003g0378 a0001c0001t0006g0220 a0001c0001t0006g0321 a0001c0001t0007g0358 a0001c0001t0008g0329 a0001c0001t0011g0165 a0001c0001t0014g0341 a0001c0001t0015g0179 a0001c0001t0017g0158 a0001c0001t0018g0217 a0001c0001t0018g0218 a0001c0001t0021g0236 a0001c0001t0025g0185 a0001c0001t0028g0283 a0001c0001t0029g0322 a0001c0001t0032g0091 a0001c0001t0033g0105 a0001c0002t0001g0009 a0001c0002t0001g0013 a0001c0002t0001g0038 a0001c0002t0001g0045 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0092 a0001c0002t0001g0096 a0001c0002t0001g0102 a0001c0002t0001g0108 a0001c0002t0001g0115 a0001c0002t0001g0117 a0001c0002t0001g0123 a0001c0002t0001g0124 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0129 a0001c0002t0001g0136 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0149 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0160 a0001c0002t0001g0161 a0001c0002t0001g0166 a0001c0002t0001g0181 a0001c0002t0001g0189 a0001c0002t0001g0198 a0001c0002t0001g0209 a0001c0002t0001g0228 a0001c0002t0001g0252 a0001c0002t0001g0253 a0001c0002t0001g0259 a0001c0002t0001g0262 a0001c0002t0001g0264 a0001c0002t0001g0266 a0001c0002t0001g0270 a0001c0002t0001g0281 a0001c0002t0001g0293 a0001c0002t0001g0294 a0001c0002t0001g0296 a0001c0002t0001g0297 a0001c0002t0001g0301 a0001c0002t0001g0303 a0001c0002t0001g0316 a0001c0002t0001g0346 a0001c0002t0001g0348 a0001c0002t0001g0350 a0001c0002t0001g0359 a0001c0002t0001g0364 a0001c0002t0001g0367 a0001c0002t0001g0368 a0001c0002t0001g0369 a0001c0002t0001g0374 a0001c0002t0001g0377 a0001c0002t0001g0381 a0001c0002t0002g0097 a0001c0002t0002g0370 a0001c0002t0004g0254 a0001c0002t0005g0012 a0001c0002t0005g0143 a0001c0002t0005g0372 a0001c0002t0020g0268 a0001c0003t0001g0227 a0001c0003t0002g0014 a0001c0003t0002g0015 a0001c0003t0002g0016 a0001c0003t0002g0020 a0001c0003t0002g0021 a0001c0003t0002g0023 a0001c0003t0002g0058 a0001c0003t0002g0068 a0001c0003t0002g0073 a0001c0003t0002g0074 a0001c0003t0002g0075 a0001c0003t0002g0076 a0001c0003t0002g0077 a0001c0003t0002g0078 a0001c0003t0002g0080 a0001c0003t0002g0081 a0001c0003t0002g0082 a0001c0003t0002g0088 a0001c0003t0002g0180 a0001c0003t0002g0184 a0001c0003t0002g0201 a0001c0003t0002g0203 a0001c0003t0002g0207 a0001c0003t0002g0250 a0001c0003t0002g0269 a0001c0003t0002g0274 a0001c0003t0002g0286 a0001c0003t0002g0312 a0001c0003t0002g0331 a0001c0003t0002g0338 a0001c0003t0003g0004 a0001c0003t0003g0083 a0001c0003t0003g0084 a0001c0003t0003g0086 a0001c0003t0003g0087 a0001c0003t0003g0210 a0001c0003t0003g0245 a0001c0003t0003g0257 a0001c0003t0003g0258 a0001c0003t0003g0290 a0001c0003t0006g0190 a0001c0003t0006g0193 a0001c0003t0006g0339 a0001c0003t0007g0182 a0001c0003t0007g0183 a0001c0003t0007g0191 a0001c0003t0007g0194 a0001c0003t0008g0188 a0001c0003t0008g0192 a0001c0003t0010g0017 a0001c0003t0010g0018 a0001c0003t0010g0022 a0001c0003t0011g0062 a0001c0003t0011g0244 a0001c0003t0012g0229 a0001c0003t0012g0249 a0001c0003t0014g0200 a0001c0003t0014g0292 a0001c0003t0022g0085 a0001c0003t0031g0334 a0001c0003t0034g0026 a0001c0004t0001g0001 a0001c0004t0001g0002 a0001c0004t0001g0019 a0001c0004t0001g0024 a0001c0004t0001g0025 a0001c0004t0001g0027 a0001c0004t0001g0028 a0001c0004t0001g0029 a0001c0004t0001g0031 a0001c0004t0001g0032 a0001c0004t0001g0037 a0001c0004t0001g0041 a0001c0004t0001g0042 a0001c0004t0001g0043 a0001c0004t0001g0057 a0001c0004t0001g0059 a0001c0004t0001g0060 a0001c0004t0001g0061 a0001c0004t0001g0063 a0001c0004t0001g0065 a0001c0004t0001g0066 a0001c0004t0001g0070 a0001c0004t0001g0071 a0001c0004t0001g0072 a0001c0004t0001g0079 a0001c0004t0001g0174 a0001c0004t0001g0176 a0001c0004t0001g0187 a0001c0004t0001g0224 a0001c0004t0001g0225 a0001c0004t0001g0226 a0001c0004t0001g0237 a0001c0004t0001g0238 a0001c0004t0001g0239 a0001c0004t0001g0240 a0001c0004t0001g0246 a0001c0004t0001g0247 a0001c0004t0001g0248 a0001c0004t0001g0256 a0001c0004t0001g0260 a0001c0004t0001g0261 a0001c0004t0001g0285 a0001c0004t0001g0287 a0001c0004t0001g0288 a0001c0004t0001g0291 a0001c0004t0001g0310 a0001c0004t0001g0311 a0001c0004t0001g0313 a0001c0004t0001g0332 a0001c0004t0001g0333 a0001c0004t0001g0336 a0001c0004t0001g0337 a0001c0004t0001g0360 a0001c0004t0001g0383 a0001c0004t0004g0033 a0001c0004t0004g0034 a0001c0004t0004g0064 a0001c0004t0004g0067 a0001c0004t0004g0069 a0001c0004t0004g0317 a0001c0004t0004g0343 a0001c0004t0005g0195 a0001c0004t0005g0335 a0001c0005t0001g0006 a0001c0005t0001g0010 a0001c0005t0001g0036 a0001c0005t0001g0094 a0001c0005t0001g0106 a0001c0005t0001g0107 a0001c0005t0001g0109 a0001c0005t0001g0114 a0001c0005t0001g0196 a0001c0005t0001g0199 a0001c0005t0001g0212 a0001c0005t0001g0216 a0001c0005t0001g0223 a0001c0005t0001g0233 a0001c0005t0001g0234 a0001c0005t0001g0267 a0001c0005t0001g0272 a0001c0005t0001g0277 a0001c0005t0001g0278 a0001c0005t0001g0279 a0001c0005t0001g0280 a0001c0005t0001g0309 a0001c0005t0001g0314 a0001c0005t0001g0315 a0001c0005t0001g0323 a0001c0005t0001g0324 a0001c0005t0001g0325 a0001c0005t0001g0327 a0001c0005t0001g0342 a0001c0005t0001g0355 a0001c0005t0004g0035 a0001c0005t0004g0302 a0001c0005t0005g0273 a0001c0005t0026g0232 a0001c0005t0027g0055 a0001c0006t0001g0231 a0001c0006t0001g0328 a0001c0006t0002g0005 a0001c0006t0002g0056 a0001c0006t0002g0197 a0001c0006t0002g0211 a0001c0006t0002g0214 a0001c0006t0002g0271 a0001c0006t0002g0276 a0001c0006t0002g0284 a0001c0006t0002g0307 a0001c0006t0002g0354 a0001c0006t0003g0093 a0001c0006t0003g0308 a0001c0006t0006g0320 a0001c0006t0006g0326 a0001c0006t0007g0219 a0001c0006t0008g0345 a0001c0006t0008g0357 a0001c0006t0013g0040 a0001c0006t0013g0306 a0001c0006t0015g0344 a0001c0006t0017g0305 a0001c0006t0024g0304 a0002c0007t0002g0205	348	387	0.8992	98	c.360 others(115): Show c.360-1228_360-1227insCCACCGCCATTGCCACCTCTACCACCAC ATCACCACCACCAATACCACCTCCACCATCATTATCACCATCACCACCAC CAATATGACCTTCACCATCA	PRIMA1	ENSG00000175785.13	transcript	ENST00000393140.6	protein_coding	4/4			chr14	TogoVar
PRIMA1_chr14_93713298_93793485	93722773	A A	ATGATGGT others(91): Show ATGATGGTGAAGGTCATATTGGTGGTGGTGATGGTGATAATGATGGTGGA GGTGGTATTGGTGGTGGTTATGTGGTGGTAGAGGTGGCAATGGCGGTGG	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0167 a0001c0006t0002g0167	1	40	0.0250	98	c.360 others(115): Show c.360-1228_360-1227insCCACCGCCATTGCCACCTCTACCACCAC ATAACCACCACCAATACCACCTCCACCATCATTATCACCATCACCACCAC CAATATGACCTTCACCATCA	PRIMA1	ENSG00000175785.13	transcript	ENST00000393140.6	protein_coding	4/4			chr14	TogoVar
PRKN_chr6_161342417_162732766	161350871	T T	TTTTTATA others(91): Show TTTTTATATATTTATATTTAAAATATATATATTTTTATATATTTATATTT AAAATATATATATTTTTATATATTTATATTTAAAATATATATAAATATA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0012 a0001c0001t0013g0012	1	17	0.0588	98	c.128 others(115): Show c.1286-661_1286-660insTATATTTATATATATTTTAAATATAAAT ATATAAAAATATATATATTTTAAATATAAATATATAAAAATATATATATT TTAAATATAAATATATAAAA	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	11/11			chr6	TogoVar
PRPF31_chr19_54110754_54136713	54134145	C C	CCTCTCTC others(91): Show CCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTTCCCTGTC TCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0006 a0001c0002t0001g0006	1	217	0.0046	98	c.27 others(109): Show c.2713_*2714insCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTC TCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCA CCTCCCCTCTCTCT	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2433		chr19	TogoVar
PRPF8_chr17_1645629_1689867	1689507	A A	AGGGGCTG others(91): Show AGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGATCCCCCCACCTCCCTCCAAGATGGGGCGGCTGGCCGGGCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0229 a0001c0002t0001g0229	1	178	0.0056	98	c.-47 others(109): Show c.-4740_-4739insCTGCCCGGCCAGCCGCCCCATCTTGGAGGGAGGT GGGGGGATCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGTCAGCCCC	PRPF8	ENSG00000174231.18	transcript	ENST00000304992.11	protein_coding		4641		chr17	TogoVar
PRPF8_chr17_1645629_1689867	1689507	A A	AGGGGCTG others(91): Show AGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGATCCCCCCACCTCCCTCCAAGATGGGGCGGCTGGCCGGGCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00323.hp2 others(92): Show HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00438.hp2 HG00621.hp2 HG00642.hp2 HG00738.hp1 HG01071.hp1 HG01099.hp1 HG01109.hp1 HG01109.hp2 HG01169.hp2 HG01243.hp2 HG01255.hp1 HG01433.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01981.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02280.hp1 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02723.hp1 HG02735.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03139.hp2 HG03195.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03669.hp2 HG03704.hp1 HG03834.hp2 HG03942.hp2 HG04184.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp1 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18944.hp2 NA18946.hp1 NA18951.hp1 NA18955.hp1 NA18966.hp2 NA18970.hp2 NA18979.hp1 NA18986.hp2 NA18997.hp1 NA19007.hp2 NA19043.hp2 NA19083.hp1 NA19088.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20805.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(9): Show a0001c0001 a0001c0002 a0001c0005 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0013 a0001c0014 a0001c0015 a0001c0017 a0001c0020	a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 others(10): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 a0001c0005t0001 a0001c0007t0001 a0001c0008t0001 a0001c0009t0001 a0001c0010t0001 a0001c0013t0001 a0001c0014t0001 a0001c0015t0001 a0001c0017t0001 a0001c0020t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(78): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0032 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0181 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0192 a0001c0001t0001g0195 a0001c0001t0001g0198 a0001c0001t0001g0219 a0001c0001t0001g0225 a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0020 a0001c0002t0001g0037 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0103 a0001c0002t0001g0104 a0001c0002t0001g0108 a0001c0002t0001g0112 a0001c0002t0001g0113 a0001c0002t0001g0116 a0001c0002t0001g0117 a0001c0002t0001g0118 a0001c0002t0001g0120 a0001c0002t0001g0123 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0129 a0001c0002t0001g0131 a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0001g0144 a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0002t0004g0133 a0001c0005t0001g0008 a0001c0005t0001g0109 a0001c0005t0001g0110 a0001c0005t0001g0111 a0001c0007t0001g0105 a0001c0007t0001g0106 a0001c0007t0001g0107 a0001c0008t0001g0147 a0001c0009t0001g0178 a0001c0010t0001g0115 a0001c0010t0001g0141 a0001c0013t0001g0148 a0001c0014t0001g0119 a0001c0015t0001g0155 a0001c0017t0001g0162 a0001c0020t0001g0212	95	272	0.3493	98	c.-47 others(109): Show c.-4740_-4739insCCGCCCGGCCAGCCGCCCCATCTTGGAGGGAGGT GGGGGGATCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGTCAGCCCC	PRPF8	ENSG00000174231.18	transcript	ENST00000304992.11	protein_coding		4641		chr17	TogoVar
PRPF8_chr17_1645629_1689867	1689507	A A	AGGGGCTG others(91): Show AGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGATCCCCCCACCTCCCTCCAAGATGGGGTGGCTGGCCGGGCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp2 HG03017.hp1 HG03669.hp1 others(1): Show HG02602.hp2 HG03017.hp1 HG03669.hp1 HG04115.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0028 a0001c0002t0002g0235 a0001c0002t0002g0237 others(1): Show a0001c0002t0002g0028 a0001c0002t0002g0235 a0001c0002t0002g0237 a0001c0002t0002g0238	4	181	0.0221	98	c.-47 others(109): Show c.-4740_-4739insCCGCCCGGCCAGCCACCCCATCTTGGAGGGAGGT GGGGGGATCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGTCAGCCCC	PRPF8	ENSG00000174231.18	transcript	ENST00000304992.11	protein_coding		4641		chr17	TogoVar
PRPF8_chr17_1645629_1689867	1689534	G G	GGACGGGG others(91): Show GGACGGGGCGGCTGGCCGGGCGGGGGGCTGATCCCCCCACCTCCCTCCAA GATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG03492.hp1 HG00140.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	2	288	0.0069	98	c.-47 others(109): Show c.-4767_-4766insTGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG GCCAGCCGCCCCATCTTGGAGGGAGGTGGGGGGATCAGCCCCCCGCCCGG CCAGCCGCCCCGTC	PRPF8	ENSG00000174231.18	transcript	ENST00000304992.11	protein_coding		4668		chr17	TogoVar
PRSS33_chr16_2778953_2792560	2787287	C C	CCCCCTCC others(91): Show CCCCCTCCCTCATCCTCACTCCTCTCTCATCACCCCTCCTCCATCCTTCA CCCCCCCATCGTCACCCCCTCCCTCATCCTCACCCCCTTCCTCCTCACT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	375	0.0027	98	c.-58 others(113): Show c.-58+245_-58+246insAGTGAGGAGGAAGGGGGTGAGGATGAGGGA GGGGGTGACGATGGGGGGGTGAAGGATGGAGGAGGGGTGATGAGAGAGGA GTGAGGATGAGGGAGGGG	PRSS33	ENSG00000103355.14	transcript	ENST00000682474.1	protein_coding	1/6			chr16	TogoVar
PSEN1_chr14_73131507_73228691	73184195	G G	GCGGGGGG others(91): Show GCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGC CGGGGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0266 a0001c0001t0016g0266	1	365	0.0027	98	c.481 others(115): Show c.481-2625_481-2624insAGGGCGGCTGGCCGGCCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGCCGGGGGGCTGACC CCCCCACCTCCCTCCCGGAC	PSEN1	ENSG00000080815.20	transcript	ENST00000324501.10	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
PTHLH_chr12_27953084_27977733	27961301	G G	GTATATAT others(91): Show GTATATATATATACGTATATATATATACGTATATATATACGTATATATAT ATACGTATATATATATACGTATATATATATACGTATATATATATACGTA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	287	0.0035	98	c.524 others(115): Show c.524+2046_524+2047insTACGTATATATATATACGTATATATATA TACGTATATATATATACGTATATATATATACGTATATATATACGTATATA TATATACGTATATATATATA	PTHLH	ENSG00000087494.16	transcript	ENST00000545234.6	protein_coding	5/5			chr12	TogoVar
PTPN9_chr15_75458251_75584315	75504150	A A	ACAGCCGC others(91): Show ACAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCACCCGGC CAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGC	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0142 a0001c0001t0004g0142	1	105	0.0095	98	c.968 others(115): Show c.968+1524_968+1525insGCCGGGCGGGGGGCTGACCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCACCTC CCTCCCGGACGGGGCGGCTG	PTPN9	ENSG00000169410.11	transcript	ENST00000618819.5	protein_coding	7/12			chr15	TogoVar
PXDN_chr2_1626887_1749515	1711254	T T	TACCAGCA others(91): Show TACCAGCACCCGCTCCACAAGCACCCACTCTCCACCAGCACCCACTCTCC ACTAGCACCCACTCCACCAGCACCCACTCTCCACCAGCACCCACTCTCC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0007 a0001c0005t0007	a0001c0005t0007g0161 a0001c0005t0007g0161	1	320	0.0031	98	c.201 others(117): Show c.201-18121_201-18120insGGAGAGTGGGTGCTGGTGGAGAGTGG GTGCTGGTGGAGTGGGTGCTAGTGGAGAGTGGGTGCTGGTGGAGAGTGGG TGCTTGTGGAGCGGGTGCTGGT	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
PXMP2_chr12_132682587_132709985	132692806	T T	TTGCCAGT others(91): Show TTGCCAGTTAGTTAGTGAGCTCCCTTAGTCAGTTAGTTAGTGAGCGCCCT TAGCCAGTTAGTTAGTGAGCGCCCTTAGCCAGTTAGTTAGTGAGCGCCC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00639.hp2 HG01168.hp1 others(11): Show HG00280.hp1 HG00639.hp2 HG01168.hp1 HG01169.hp2 HG02027.hp2 HG04204.hp2 NA18942.hp1 NA18955.hp2 NA18977.hp2 NA18990.hp1 NA19000.hp1 NA19002.hp1 NA19082.hp1 NA20300.hp1	a0001 a0001	a0001c0003 a0001c0008 a0001c0003 a0001c0008	a0001c0003t0003 a0001c0008t0003 a0001c0003t0003 a0001c0008t0003	a0001c0003t0003g0023 a0001c0003t0003g0037 a0001c0003t0003g0038 others(7): Show a0001c0003t0003g0023 a0001c0003t0003g0037 a0001c0003t0003g0038 a0001c0003t0003g0040 a0001c0003t0003g0128 a0001c0003t0003g0133 a0001c0003t0003g0135 a0001c0003t0003g0147 a0001c0003t0003g0158 a0001c0008t0003g0050	14	348	0.0402	98	c.236 others(115): Show c.236+2431_236+2432insGCCAGTTAGTTAGTGAGCTCCCTTAGTC AGTTAGTTAGTGAGCGCCCTTAGCCAGTTAGTTAGTGAGCGCCCTTAGCC AGTTAGTTAGTGAGCGCCCT	PXMP2	ENSG00000176894.10	transcript	ENST00000317479.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr12	TogoVar
QPCT_chr2_37339630_37378322	37347168	T T	TATATATA others(91): Show TATATATATATATCATATATATATAACATATATATAACATATATATAACA TATATATAACATATATATATAACATATATATATAACATATATATATAAC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0128 a0001c0003t0001g0128	1	428	0.0023	98	c.120 others(115): Show c.120+2328_120+2329insTCATATATATATAACATATATATAACAT ATATATAACATATATATAACATATATATATAACATATATATATAACATAT ATATATAACATATATATATA	QPCT	ENSG00000115828.17	transcript	ENST00000338415.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr2	TogoVar

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