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
OR52E6_chr11_5835928_5846897	5844216	T T	TTTATATA others(221): Show TTTATATATATTTTATATATAATATATATTATATATATTATATATATTAT ATATAATATATATTATATATATTATATATAATATATATTATATATAATAT ATATATTATATATAATATATATTATATATAATATATATTATATTATATAT AATATATATTATATATATAATATATATAATATATATTATATATAATATAT ATAATATATATTATATATATTATATATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	450	0.0022	228	c.-23 others(239): Show c.-2320_-2319insTTATATATAATATATATAATATATATTATATATA TTATATATAATATATATTATATATATTATATATATAATATATATTATATA TAATATAATATATATTATATATAATATATATTATATATAATATATATATT ATATATAATATATATTATATATAATATATATAATATATATTATATATAAT ATATATAATATATATAATATATATTATATATAAAATATATATAA	OR52E6	ENSG00000205409.3	transcript	ENST00000329322.5	protein_coding		2320		chr11	TogoVar
PACS2_chr14_105309748_105403147	105350011	G G	GAGAACTT others(221): Show GAGAACTTCCGGGAGCGCGTGGCTAATAGCAGGACCCCGAGAACTTCCGG GAGCGCGTGGCTAATAGCAGGACCCCAAGAACTTCCGGGAGCGCGTGGCT AATAGCAGGACCCCAAGAACTTCCGGGAGCGCGTGGCTAATAGCAGGACC CCAAGAACTTCCGGGAGCGCGTGGCTAATAGCAGGACCCCAAGAACTTCC GGGAGCGCGTGGCTAATAGCAGGACCCCA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0010 a0001c0006t0010	a0001c0006t0010g0016 a0001c0006t0010g0016	1	210	0.0048	228	c.207 others(245): Show c.207+1468_207+1469insGAGAACTTCCGGGAGCGCGTGGCTAATA GCAGGACCCCAAGAACTTCCGGGAGCGCGTGGCTAATAGCAGGACCCCAA GAACTTCCGGGAGCGCGTGGCTAATAGCAGGACCCCAAGAACTTCCGGGA GCGCGTGGCTAATAGCAGGACCCCAAGAACTTCCGGGAGCGCGTGGCTAA TAGCAGGACCCCAAGAACTTCCGGGAGCGCGTGGCTAATAGCAGGACCCC	PACS2	ENSG00000179364.15	transcript	ENST00000447393.6	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr14	TogoVar
PAK3_chrX_111091191_111232361	111091909	C C	CAAAAGAT others(221): Show CAAAAGATGTGCCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAA AAACACAAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGC TACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCT TGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0168 a0001c0001t0008g0168	1	195	0.0051	228	c.-48 others(239): Show c.-4859_-4858insAAAAGATGTGCCATCCTGGCTAACACAGTGAAAC CCCGTCTCTACTAAAAAACACAAAAAAATTAGCCGGGCGTGGTGGCGGGC GCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAAC CCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGC CTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAA	PAK3	ENSG00000077264.17	transcript	ENST00000372007.10	protein_coding		4281		chrX	TogoVar
PALD1_chr10_70473767_70573450	70554954	C C	CCCCTCCC others(221): Show CCCCTCCCCTCCCCCTCCTCCCCCTCCCCTCCCCCTCCTCCCCCTCCCCT CCCCCTCCTCCCCTTCCTCCCCTCCCCCTCCTCCCCTTCCTCCCCTCCCC CCTCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCACTCCCCT TCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCACTCCCCTTCCCCTCC CCTCCCCTCCTCCCCTCCCCTCCCCTCCT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00621.hp1 HG01081.hp1 others(25): Show HG00609.hp2 HG00621.hp1 HG01081.hp1 HG01099.hp2 HG01361.hp1 HG01975.hp1 HG01993.hp2 HG02056.hp1 HG02056.hp2 HG02083.hp2 HG02165.hp1 HG02165.hp2 HG02683.hp1 HG04115.hp2 NA18952.hp1 NA18952.hp2 NA18957.hp2 NA18964.hp2 NA18966.hp1 NA18970.hp2 NA18979.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19011.hp2 NA19054.hp1 NA19060.hp1 NA19084.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0013 a0016 a0020	a0001c0001 a0002c0002 a0003c0003 others(3): Show a0001c0001 a0002c0002 a0003c0003 a0013c0037 a0016c0023 a0020c0022	a0001c0001t0002 a0001c0001t0004 a0002c0002t0001 others(11): Show a0001c0001t0002 a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0012 a0002c0002t0020 a0002c0002t0022 a0003c0003t0001 a0003c0003t0002 a0003c0003t0004 a0013c0037t0012 a0016c0023t0003 a0020c0022t0004	a0001c0001t0002g0045 a0001c0001t0002g0062 a0001c0001t0004g0027 others(25): Show a0001c0001t0002g0045 a0001c0001t0002g0062 a0001c0001t0004g0027 a0001c0001t0004g0081 a0002c0002t0001g0014 a0002c0002t0001g0047 a0002c0002t0001g0164 a0002c0002t0001g0166 a0002c0002t0002g0003 a0002c0002t0002g0004 a0002c0002t0002g0006 a0002c0002t0002g0030 a0002c0002t0002g0031 a0002c0002t0002g0088 a0002c0002t0002g0110 a0002c0002t0004g0122 a0002c0002t0004g0160 a0002c0002t0012g0226 a0002c0002t0020g0075 a0002c0002t0020g0307 a0002c0002t0022g0008 a0002c0002t0022g0012 a0003c0003t0001g0209 a0003c0003t0002g0054 a0003c0003t0004g0022 a0013c0037t0012g0273 a0016c0023t0003g0153 a0020c0022t0004g0156	28	308	0.0909	228	c.226 others(247): Show c.2262+7511_2262+7512insTCCCCTCCCCCTCCTCCCCCTCCCCT CCCCCTCCTCCCCCTCCCCTCCCCCTCCTCCCCTTCCTCCCCTCCCCCTC CTCCCCTTCCTCCCCTCCCCCCTCCTCCCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCACTCCCCTTCCCCTCCC CTCCACTCCCCTTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTC CC	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
PALD1_chr10_70473767_70573450	70554954	C C	CCCCTCCC others(221): Show CCCCTCCCCTCCCCCTCCTCCCCCTCCCCTCCCCCTCCTCCCCCTCCCCT CCCCCTCCTCCCCTTCCTCCCCTCCCCCTCCTCCCCTTCCTCCCCTCCCC CCTCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCT TCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCACTCCCCTTCCCCTCC CCTCCCCTCCTCCCCTCCCCTCCCCTCCT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0021 a0002c0002t0004g0021	1	308	0.0033	228	c.226 others(247): Show c.2262+7511_2262+7512insTCCCCTCCCCCTCCTCCCCCTCCCCT CCCCCTCCTCCCCCTCCCCTCCCCCTCCTCCCCTTCCTCCCCTCCCCCTC CTCCCCTTCCTCCCCTCCCCCCTCCTCCCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCTCCCCTTCCCCTCCCCTCCACTCCCCTTCCCCTCCC CTCCACTCCCCTTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTC CC	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
PALD1_chr10_70473767_70573450	70554954	C C	CCCTTCCC others(221): Show CCCTTCCCCTCCCCCTCCTCCCCCTCCCCTCCCCCTCCTCCCCCTCCCCT CCCCCTCCTCCCCTTCCTCCCCTCCCCCTCCTCCCCTTCCTCCCCTCCCC CCTCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCACTCCCCT TCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCACTCCCCTTCCCCTCC CCTCCCCTCCTCCCCTCCCCTCCCCTCCT	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0015 a0002c0002t0004g0015	1	308	0.0033	228	c.226 others(247): Show c.2262+7510_2262+7511insTTCCCCTCCCCCTCCTCCCCCTCCCC TCCCCCTCCTCCCCCTCCCCTCCCCCTCCTCCCCTTCCTCCCCTCCCCCT CCTCCCCTTCCTCCCCTCCCCCCTCCTCCCCCCTCCCCTCCCCCTCCCCT CCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCACTCCCCTTCCCCTCC CCTCCACTCCCCTTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCT CC	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
PARP10_chr8_143972158_143991460	143981475	A A	ATGATGGT others(221): Show ATGATGGTGGTGACGACAGTGAGTGGTGAAGGTGGTGGTGATGATGGTGG TGACGACAGTGAGTGGTGAAGGTGATGGTGATGATGGTGACGACAGTGAG TGGTGAAGGTGATGGTGATGATGGTGACGACAGTGAGTGGTGAAGGTGAT GGTGATGGTGGTGACGACAGTGAGTGGTGAAGGTGATGGTGATGATGGTG ACGACAGTGAGTGGTGAAGGTGGTGGTGG	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	380	0.0026	228	c.255 others(247): Show c.2556+1456_2556+1457insCCACCACCACCTTCACCACTCACTGT CGTCACCATCATCACCATCACCTTCACCACTCACTGTCGTCACCACCATC ACCATCACCTTCACCACTCACTGTCGTCACCATCATCACCATCACCTTCA CCACTCACTGTCGTCACCATCATCACCATCACCTTCACCACTCACTGTCG TCACCACCATCATCACCACCACCTTCACCACTCACTGTCGTCACCACCAT CA	PARP10	ENSG00000178685.14	transcript	ENST00000313028.12	protein_coding	9/10			chr8	TogoVar
PCBP3_chr21_45638725_45947450	45898666	A A	AGCCTCCC others(221): Show AGCCTCCCTCTCCCTCCACGGGCCCCTCTACACACCGTCCTCACAGCCTC CCTCTCCCTCCACGGGCCCCTCTACACACTGTCCTCCCAGCCTCCCTCTA CACACCGTCCTCACGGCCTCCCTCTCCCTCCACGGACCCCTCTACACACT GTCCTCCCAGCCTCCCTCTACACACCGTCCTCACGGCCTCCCTCTCCCTC CACGGGCCCCTCTACACACCGTCCTCACG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03471.hp1 HG02280.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0015 a0001c0001t0004 a0001c0001t0015	a0001c0001t0004g0004 a0001c0001t0015g0003 a0001c0001t0004g0004 a0001c0001t0015g0003	2	292	0.0069	228	c.166 others(243): Show c.166-905_166-904insACACACCGTCCTCACAGCCTCCCTCTCCCT CCACGGGCCCCTCTACACACTGTCCTCCCAGCCTCCCTCTACACACCGTC CTCACGGCCTCCCTCTCCCTCCACGGACCCCTCTACACACTGTCCTCCCA GCCTCCCTCTACACACCGTCCTCACGGCCTCCCTCTCCCTCCACGGGCCC CTCTACACACCGTCCTCACGGCCTCCCTCTCCCTCCACGGGCCCCTCT	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45909853	G G	CCCACCCA others(221): Show CCCACCCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATACGG ACCCGGCCCACCCACTGCCCAGATACGGACCCCCCCCCACCCACTGCCCA GATACGGACCCCCCTCCACCCACTGCCCAGATACGGACCCCCCCCACCCA CTGCCCAGATACGGACCCCCCCCCACCCACTGCCCAGATACGGACCCCCC TCCACCCACTGCCCAGATACGGACCCCCT	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0073 a0001c0001t0002g0073	1	292	0.0034	228	c.471 others(240): Show c.471+367delGinsCCCACCCACTGCCCAGATACGGACCCCCCCCACC CACTGCCCAGATACGGACCCGGCCCACCCACTGCCCAGATACGGACCCCC CCCCACCCACTGCCCAGATACGGACCCCCCTCCACCCACTGCCCAGATAC GGACCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCCACCCACTGCC CAGATACGGACCCCCCTCCACCCACTGCCCAGATACGGACCCCCT	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	10/17			chr21	TogoVar
PCED1A_chr20_2830314_2845655	2842868	A A	AGATAGAT others(221): Show AGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTAT CTATCGATAGATAGATAGATGTATCTATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	436	0.0023	228	c.-26 others(239): Show c.-2680_-2679insGATAGATACATCTATCTATCTATCGATAGATACA TCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATC TATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTA TCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTATC GATAGATACATCTATCTATCTATCGATAGATACATCTATCTATC	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2214		chr20	TogoVar
PCED1A_chr20_2830314_2845655	2842868	A A	AGATAGAT others(221): Show AGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATAGATAGATGTATCTATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp2 HG02132.hp2 HG02040.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	2	436	0.0046	228	c.-26 others(239): Show c.-2680_-2679insGATAGATACATCTATCTATCGATAGATACATCTA TCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATC TATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTA TCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATC TATCGATAGATACATCTATCTATCGATAGATACATCTATCTATC	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2214		chr20	TogoVar
PCSK6_chr15_101298933_101494707	101311636	T T	TCCCTCAC others(221): Show TCCCTCACAGCCCACCGCATCATCACACCCTCACAGCTCACCCCATCATC ACACCCTCACAGCCCACCCCATCATCACCCCTCACAGCCCACCCCATCGT CACCCCTCACAGCCCACCCCATCATCACCCCTCACAGCTCACCCCATCGT CACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCAT CACACCCTCACAGCCCACCCCATCGTCAC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02145.hp2 HG02280.hp1 others(1): Show HG00735.hp2 HG02145.hp2 HG02280.hp1 HG03516.hp1	a0001 a0006 a0001 a0006	a0001c0006 a0001c0019 a0006c0030 a0001c0006 a0001c0019 a0006c0030	a0001c0006t0001 a0001c0019t0001 a0006c0030t0001 a0001c0006t0001 a0001c0019t0001 a0006c0030t0001	a0001c0006t0001g0037 a0001c0006t0001g0111 a0001c0019t0001g0306 others(1): Show a0001c0006t0001g0037 a0001c0006t0001g0111 a0001c0019t0001g0306 a0006c0030t0001g0003	4	336	0.0119	228	c.269 others(247): Show c.2699+1739_2699+1740insGTGACGATGGGGTGGGCTGTGAGGGT GTGATGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGG GTGACGATGGGGTGAGCTGTGAGGGGTGATGATGGGGTGGGCTGTGAGGG GTGACGATGGGGTGGGCTGTGAGGGGTGATGATGGGGTGGGCTGTGAGGG TGTGATGATGGGGTGAGCTGTGAGGGTGTGATGATGCGGTGGGCTGTGAG GG	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21			chr15	TogoVar
PCSK6_chr15_101298933_101494707	101311636	T T	TCCCTCAC others(221): Show TCCCTCACAGCCCACCGCATCATCACACCCTCACAGCTCACCCCATCATC ACACCCTCACAGCCCACCCCATCATCACCCCTCACAGCCCACCCCATCGT CACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCAT CACCCCTCACAGCTCACCCCATCGTCACCCCTCACAGCCCACCCCATCGT CACCCCTCACAGCCCACCCCATCATCACA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01123.hp1 HG01175.hp2 others(1): Show HG01099.hp2 HG01123.hp1 HG01175.hp2 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0061 a0001c0001 a0001c0007 a0001c0061	a0001c0001t0001 a0001c0007t0006 a0001c0061t0001 a0001c0001t0001 a0001c0007t0006 a0001c0061t0001	a0001c0001t0001g0231 a0001c0007t0006g0068 a0001c0007t0006g0070 others(1): Show a0001c0001t0001g0231 a0001c0007t0006g0068 a0001c0007t0006g0070 a0001c0061t0001g0309	4	336	0.0119	228	c.269 others(247): Show c.2699+1739_2699+1740insTGTGATGATGGGGTGGGCTGTGAGGG GTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGAGCTGTGAGGG GTGATGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGG GTGACGATGGGGTGGGCTGTGAGGGGTGATGATGGGGTGGGCTGTGAGGG TGTGATGATGGGGTGAGCTGTGAGGGTGTGATGATGCGGTGGGCTGTGAG GG	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21			chr15	TogoVar
PCSK6_chr15_101298933_101494707	101493370	T T	TCCCTCCC others(221): Show TCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCC ACTTCCCCTCCCTCTCCCCTGCCCTCCCCCTCCCCCTCCCTCATCCCCTC CCCCCTCCCCCTCCCCCTCCCCCTCCCCCATCCCCCTCCCCACTCCCCCT CCCCCCTCCCCACTCCCCCCCTCCCCCCTCCCCTGCCCTCCCCCTCCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0150 a0001c0002t0002g0150	1	336	0.0030	228	c.-37 others(239): Show c.-3701_-3700insGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGG AGGGGGAGGGCAGGGGAGGGGGGAGGGGGGGAGTGGGGAGGGGGGAGGGG GAGTGGGGAGGGGGATGGGGGAGGGGGAGGGGGAGGGGGAGGGGGGAGGG GATGAGGGAGGGGGAGGGGGAGGGCAGGGGAGAGGGAGGGGAAGTGGGGA GGGGAGGGGGAGGGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGG	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding		3664		chr15	TogoVar
PDE2A_chr11_72571141_72679422	72670660	G G	GCTGCGCA others(221): Show GCTGCGCATTTCTCCCACTCTCTGCCTAGATGTGTTCTTGCCACTCCTGG ATCATTGTGCCCCAGCCTGGCCCTACTTCAGGGGACAGTGACACAGGACG GAGAAAGGACATAAGGCCAGGCTGGGTAGCCTGGAGTTGCTGGGCCCTGC GGAGAAGACCCAGGACAGATATAACCACCACAAGAGGAGTCAGGGCCTGC ACCCATCTCAGATTTTTGTTAATAAAGGT	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	292	0.0034	228	c.71+ others(243): Show c.71+3476_71+3477insACCTTTATTAACAAAAATCTGAGATGGGTG CAGGCCCTGACTCCTCTTGTGGTGGTTATATCTGTCCTGGGTCTTCTCCG CAGGGCCCAGCAACTCCAGGCTACCCAGCCTGGCCTTATGTCCTTTCTCC GTCCTGTGTCACTGTCCCCTGAAGTAGGGCCAGGCTGGGGCACAATGATC CAGGAGTGGCAAGAACACATCTAGGCAGAGAGTGGGAGAAATGCGCAG	PDE2A	ENSG00000186642.16	transcript	ENST00000334456.10	protein_coding	1/30			chr11	TogoVar
PDIA6_chr2_10778391_10817785	10806622	T T	TAAAGAGA others(221): Show TAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGGA AAAGAAAAGAAAAAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0182 a0002c0002t0001g0182	1	342	0.0029	228	c.20- others(243): Show c.20-3983_20-3982insCTTTCTTTCTTTCTTTTTTTCTTTTCTTTT CCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTT	PDIA6	ENSG00000143870.13	transcript	ENST00000272227.8	protein_coding	1/12			chr2	TogoVar
PFKFB3_chr10_6197932_6240532	6206927	A A	AGGCAGAG others(221): Show AGGCAGAGACACTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCT CCTCACATCCCAGACGATGGGCGGCCGGGCAGAGACACTCCTCACTTTCC AGACTGGGCAGCCAGGCAGAGGGGCTCCTCACATCCCAGACGATGGGCGG CCGGGCAGAGACACTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGG CTCCTCACATCCCAGACGATGGGCGGCCG	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0333 a0001c0001t0007g0333	1	432	0.0023	228	c.76+ others(243): Show c.76+3661_76+3662insCGGCCGGGCAGAGACACTCCTCACTTTCCA GACTGGGCAGCCAGGCAGAGGGGCTCCTCACATCCCAGACGATGGGCGGC CGGGCAGAGACACTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGC TCCTCACATCCCAGACGATGGGCGGCCGGGCAGAGACACTCCTCACTTTC CAGACTGGGCAGCCAGGCAGAGGGGCTCCTCACATCCCAGACGATGGG	PFKFB3	ENSG00000170525.21	transcript	ENST00000379775.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
PHKA1_chrX_72573814_72719306	72681898	A A	AGGGGGGG others(221): Show AGGGGGGGGTCAGCCCCCCCGCCCAGCCAGCCGCCCCGTCCGGGAGGTGA GGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGC CCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCTGCC CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCC GGCCAGCCGCCCCGTCCGGGAGGGAGGTG	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0183 a0001c0001t0002g0183	1	237	0.0042	228	c.537 others(245): Show c.537+2599_537+2600insCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCAGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGGCTGACCCCCCCC	PHKA1	ENSG00000067177.15	transcript	ENST00000373542.9	protein_coding	5/31			chrX	TogoVar
PHKA1_chrX_72573814_72719306	72681898	A A	AGGGGGGG others(221): Show AGGGGGGGGTCAGCCCCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGA GGGGCACCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGC CCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCTGCC CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCC GGCCAGCCGCCCCGTCCGGGAGGGAGGTG	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG02818.hp1 others(2): Show HG01069.hp1 HG01071.hp1 HG02818.hp1 HG03098.hp1 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0012 a0001c0004t0001 a0001c0001t0001 a0001c0001t0012 a0001c0004t0001	a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0012g0122 others(2): Show a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0012g0122 a0001c0004t0001g0124 a0001c0004t0001g0125	5	237	0.0211	228	c.537 others(245): Show c.537+2599_537+2600insCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCAGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGTGCCC CTCACCTCCCGGACAGGGCGGCTGGCTGGGCGGGGGGGCTGACCCCCCCC	PHKA1	ENSG00000067177.15	transcript	ENST00000373542.9	protein_coding	5/31			chrX	TogoVar
PHKA1_chrX_72573814_72719306	72681898	A A	AGGGGGGG others(221): Show AGGGGGGGGTCAGCCCCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGA GGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGC CCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCTGCC CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCC GGCCAGCCGCCCCGTCCGGGAGGGAGGTG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG06807.hp1 NA18906.hp2 HG00738.hp1 HG06807.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0119 a0001c0001t0003g0127 a0001c0001t0003g0129 a0001c0001t0003g0119 a0001c0001t0003g0127 a0001c0001t0003g0129	3	237	0.0127	228	c.537 others(245): Show c.537+2599_537+2600insCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCAGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCGGACAGGGCGGCTGGCTGGGCGGGGGGGCTGACCCCCCCC	PHKA1	ENSG00000067177.15	transcript	ENST00000373542.9	protein_coding	5/31			chrX	TogoVar
PHKA1_chrX_72573814_72719306	72681898	A A	AGGGGGGG others(221): Show AGGGGGGGGTCAGCCCCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGA GGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGC CCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCTGCC CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCC GGCCAGCCGCCCCGTCCGGGAGGGAGGTG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00609.hp1 HG00621.hp1 others(81): Show HG00280.hp1 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG01071.hp2 HG01074.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01358.hp1 HG01361.hp1 HG01884.hp2 HG01928.hp1 HG01943.hp1 HG01975.hp2 HG02015.hp1 HG02071.hp1 HG02083.hp1 HG02109.hp2 HG02132.hp1 HG02257.hp1 HG02257.hp2 HG02280.hp2 HG02451.hp2 HG02572.hp1 HG02630.hp2 HG02683.hp2 HG02735.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02922.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03195.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03490.hp1 HG03491.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG04199.hp1 HG04204.hp1 NA18522.hp1 NA18942.hp2 NA18945.hp1 NA18951.hp1 NA18953.hp1 NA18956.hp2 NA18959.hp1 NA18966.hp1 NA18967.hp1 NA18968.hp1 NA18970.hp1 NA18982.hp1 NA18984.hp1 NA18988.hp1 NA18995.hp1 NA19000.hp1 NA19002.hp2 NA19003.hp1 NA19004.hp1 NA19005.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19055.hp1 NA19063.hp1 NA19068.hp1 NA19081.hp1 NA19082.hp1 NA19084.hp2 NA19091.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0004 a0001c0001t0001g0031 a0001c0001t0001g0034 others(75): Show a0001c0001t0001g0004 a0001c0001t0001g0031 a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0126 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0154 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0197 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0205 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0025 a0001c0001t0002g0044 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0176 a0001c0001t0002g0178 a0001c0001t0002g0192 a0001c0001t0002g0194 a0001c0001t0002g0196 a0001c0001t0002g0198 a0001c0001t0002g0203 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0213 a0001c0001t0002g0215 a0001c0001t0002g0226 a0001c0001t0003g0002 a0001c0001t0003g0113 a0001c0001t0003g0114 a0001c0001t0003g0115 a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0128 a0001c0001t0003g0136 a0001c0001t0003g0227 a0001c0001t0003g0228 a0001c0001t0003g0229 a0001c0001t0003g0230 a0001c0001t0003g0231	84	237	0.3544	228	c.537 others(245): Show c.537+2599_537+2600insCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCAGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCGGACAGGGCGGCTGGCTGGGCGGGGGGGCTGACCCCCCCC	PHKA1	ENSG00000067177.15	transcript	ENST00000373542.9	protein_coding	5/31			chrX	TogoVar
PHKA1_chrX_72573814_72719306	72681898	A A	AGGGGGGG others(221): Show AGGGGGGGGTCAGCCCCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGA GGGGCGCCTCTGCCCGGCCGCCGCTACTGGGAAGTGAGGAGCCCCTCTGC CCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCTGCC CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCC GGCCAGCCGCCCCGTCCGGGAGGGAGGTG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0195 a0001c0001t0002g0195	1	237	0.0042	228	c.537 others(245): Show c.537+2599_537+2600insCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCAGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGCGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCGGACAGGGCGGCTGGCTGGGCGGGGGGGCTGACCCCCCCC	PHKA1	ENSG00000067177.15	transcript	ENST00000373542.9	protein_coding	5/31			chrX	TogoVar
PIK3R1_chr5_68210756_68306821	68262808	T T	TAGATGCA others(221): Show TAGATGCATGTAGATACATGTATACATATATACATGTAGATACATGTATA CATATATACATGTAGATGCATGTAGATACATGTATACATATATACATGTA GATGCATGTAGATACATGTGTACATATATACATGTAGATGCATGTAGATA CATGTGTACATATATACATGTAGATGCATGTAGATACATGTATACATGTA GATGCATGTAGATACATGTATACATGTAG	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA19059.hp1 NA18969.hp1 NA19059.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0014 a0001c0001 a0004c0014	a0001c0001t0007 a0004c0014t0025 a0001c0001t0007 a0004c0014t0025	a0001c0001t0007g0064 a0004c0014t0025g0101 a0001c0001t0007g0064 a0004c0014t0025g0101	2	308	0.0065	228	c.335 others(247): Show c.335-10581_335-10580insGATGCATGTAGATACATGTATACATA TATACATGTAGATACATGTATACATATATACATGTAGATGCATGTAGATA CATGTATACATATATACATGTAGATGCATGTAGATACATGTGTACATATA TACATGTAGATGCATGTAGATACATGTGTACATATATACATGTAGATGCA TGTAGATACATGTATACATGTAGATGCATGTAGATACATGTATACATGTA GA	PIK3R1	ENSG00000145675.16	transcript	ENST00000521381.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr5	TogoVar
PKD2L1_chr10_100283149_100335228	100314975	G G	GGGAAGGG others(221): Show GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGGGAAGGGAAGGGAAGGGAAGGGA	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0010 a0010	a0010c0013 a0010c0013	a0010c0013t0001 a0010c0013t0001	a0010c0013t0001g0198 a0010c0013t0001g0198	1	306	0.0033	228	c.349 others(247): Show c.349+14235_349+14236insTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CC	PKD2L1	ENSG00000107593.17	transcript	ENST00000318222.4	protein_coding	2/15			chr10	TogoVar
PKD2L1_chr10_100283149_100335228	100314983	G G	GGGAAGGG others(221): Show GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGGGAAGGGAAGGGAAGGGAAGGGA	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	306	0.0033	228	c.349 others(247): Show c.349+14227_349+14228insTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CC	PKD2L1	ENSG00000107593.17	transcript	ENST00000318222.4	protein_coding	2/15			chr10	TogoVar
PKHD1_chr6_51610299_52092613	51981304	G G	GCTCTCCC others(221): Show GCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01255.hp1 HG03139.hp1 HG00741.hp1 HG01255.hp1 HG03139.hp1	a0002 a0018 a0028 a0002 a0018 a0028	a0002c0079 a0018c0052 a0028c0071 a0002c0079 a0018c0052 a0028c0071	a0002c0079t0007 a0018c0052t0006 a0028c0071t0012 a0002c0079t0007 a0018c0052t0006 a0028c0071t0012	a0002c0079t0007g0089 a0018c0052t0006g0086 a0028c0071t0012g0093 a0002c0079t0007g0089 a0018c0052t0006g0086 a0028c0071t0012g0093	3	134	0.0224	228	c.575 others(249): Show c.5752-21279_5752-21278insGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAG	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66			chr6	TogoVar
PLA2G4A_chr1_186823949_186993981	186870729	G G	GCCTTTGG others(221): Show GCCTTTGGTGACATGCGTAAGTGCCCTTATTTTCTTTGCTGTTAAACATG TAATTATGGTTCAGCCTTTAATTGCTTGAGTTCCTTGACAAATCGGAGGT TCTGCCTTCTTCAAATGTGGTTATGTTTGTCTAGATCTTTGAATGATAAC ATTTCAAACAGTTCTCTGATGCTATCTGTCAGATTAGCATTTTACCTGGG CCTTAAATTAGCCAAAGTGACAAAGGGGA	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0268 a0001c0001t0001g0268	1	310	0.0032	228	c.115 others(243): Show c.115+233_115+234insTGCCCTTATTTTCTTTGCTGTTAAACATGT AATTATGGTTCAGCCTTTAATTGCTTGAGTTCCTTGACAAATCGGAGGTT CTGCCTTCTTCAAATGTGGTTATGTTTGTCTAGATCTTTGAATGATAACA TTTCAAACAGTTCTCTGATGCTATCTGTCAGATTAGCATTTTACCTGGGC CTTAAATTAGCCAAAGTGACAAAGGGGACCTTTGGTGACATGCGTAAG	PLA2G4A	ENSG00000116711.10	transcript	ENST00000367466.4	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PLA2G4A_chr1_186823949_186993981	186870749	G G	GAGTGCCC others(221): Show GAGTGCCCTTATTTTCTTTGCTGTTAAACGTATAATTATGGTTCAGCCTT TAATTACTTGAGTTCCTTGACAAATCAGAGGTTCTGCCTTCTTCAAATGT GGTTATGTTTGTCTGGATCTTTGAACGATAACATTTCGAACAGTTCTCTG ATGCTATCTGTCAGATTAGCATTTTACCTGGGCCTTAAATTAGCCAAAGT GACAAAGGGGGCCTTTGGTGACATGCGTA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0096 a0001c0001t0003g0096	1	310	0.0032	228	c.115 others(243): Show c.115+397_115+398insTTAGCATTTTACCTGGGCCTTAAATTAGCC AAAGTGACAAAGGGGGCCTTTGGTGACATGCGTAAGTGCCCTTATTTTCT TTGCTGTTAAACGTATAATTATGGTTCAGCCTTTAATTACTTGAGTTCCT TGACAAATCAGAGGTTCTGCCTTCTTCAAATGTGGTTATGTTTGTCTGGA TCTTTGAACGATAACATTTCGAACAGTTCTCTGATGCTATCTGTCAGA	PLA2G4A	ENSG00000116711.10	transcript	ENST00000367466.4	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PLA2G6_chr22_38106495_38186830	38110135	G G	GAGAGAGA others(221): Show GAGAGAGAGGGAGAGAGAGAGAGAGAGAGGGATAGAGAGAGAGAGAGAGA GAGGGAGAGGGGAGAGAGGGAGAGAGAGAGAGAGAGGGAGAAGAGAGAGA GAGGGAGAGAGAGACAGAGAGAGAGAGAGGGAGAGAGAGAGAGAGAGGGA GAGGGAGAGAGAGAGAGAGAGGGAGAGGGAGAGAGAGAGAGGAGAGGAGA GAGAGAGAGAGAGACAGGGAGAGAGAGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	10	0.1000	228	c.20 others(239): Show c.2025_*2026insGTCTCTCTCTCCCTGTCTCTCTCTCTCTCTCTCC TCTCCTCTCTCTCTCTCCCTCTCCCTCTCTCTCTCTCTCTCCCTCTCCCT CTCTCTCTCTCTCTCCCTCTCTCTCTCTCTGTCTCTCTCTCCCTCTCTCT CTCTTCTCCCTCTCTCTCTCTCTCTCCCTCTCTCCCCTCTCCCTCTCTCT CTCTCTCTCTCTATCCCTCTCTCTCTCTCTCTCTCCCTCTCTCT	PLA2G6	ENSG00000184381.20	transcript	ENST00000332509.8	protein_coding		1359		chr22	TogoVar
PLCL2_chr3_16879955_17095604	17063252	C C	CCCTCCCT others(221): Show CCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTTCCTCC CTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCT CCCTGCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCC CTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTTCCT CCCTTCCTCCCTCCCTCCCTCCCTGCCTG	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01346.hp2 HG02738.hp2 HG01255.hp2 HG01346.hp2 HG02738.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0069 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0069	3	250	0.0120	228	c.309 others(247): Show c.3095-4701_3095-4700insCCCTCCCTCCCTCCCTCCCTGCCTCC CTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCT TCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCTCC CTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCT CCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTGCCTGC CT	PLCL2	ENSG00000154822.18	transcript	ENST00000615277.5	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
PLCXD1_chrX_276381_308356	280455	G G	GGGGAGGC others(221): Show GGGGAGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGGGGAAGGGAGGCCG TGCAGGAGGAGGGGAGGCCGTGCAGGGGGCAGCGGAGGCCGTGCAGGGGG AAGGGAGGCCGTGCAGGGGGAGGGGAGGCCGTGCAGGAGGAGGGGAGGCC GTGCAGGGGGCAGCGGAGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGGG GAGGGGCAGCGGAGGCCGTGCAGGGGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp1 HG01175.hp1 HG01168.hp1 HG01175.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0018 a0001c0003t0002g0044 a0001c0003t0002g0018 a0001c0003t0002g0044	2	176	0.0114	228	c.-12 others(239): Show c.-1251_-1250insGGGAGGCCGTGCAGGGGGAAGGGAGGCCGTGCAG GGGGAAGGGAGGCCGTGCAGGAGGAGGGGAGGCCGTGCAGGGGGCAGCGG AGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGGGGAGGGGAGGCCGTGCA GGAGGAGGGGAGGCCGTGCAGGGGGCAGCGGAGGCCGTGCAGGGGGAAGG GAGGCCGTGCAGGGGGAGGGGCAGCGGAGGCCGTGCAGGGGGAA	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding		925		chrX	TogoVar
PLEC_chr8_143910153_143944597	143928664	C C	CAGCGGGT others(221): Show CAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGCCCTATC ACTGTGCTGGTTCTGTGAGGAGTAGACAGCGGGTGGACCTGTGGTTTGCA ACACAGGAAGAGGCGGCGGCCCTATCACTGTGCTGGTTCTGTGAGGAGTA GACAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGTGGCGGCCCTA TCACTGTGCTGGTTCTGTGAGGAGTAGAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02258.hp1 HG02300.hp1 others(26): Show HG02145.hp2 HG02258.hp1 HG02300.hp1 HG02572.hp1 HG02622.hp1 HG02630.hp2 HG02717.hp2 HG02723.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp2 HG02965.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 NA18522.hp1 NA19043.hp2 NA19240.hp1	a0006 a0007 a0008 others(9): Show a0006 a0007 a0008 a0014 a0024 a0038 a0071 a0083 a0084 a0085 a0086 a0087	a0006c0003 a0006c0110 a0006c0111 others(13): Show a0006c0003 a0006c0110 a0006c0111 a0006c0114 a0007c0021 a0007c0086 a0008c0006 a0014c0018 a0024c0096 a0038c0115 a0071c0109 a0083c0113 a0084c0189 a0085c0188 a0086c0186 a0087c0187	a0006c0003t0004 a0006c0110t0004 a0006c0111t0004 others(13): Show a0006c0003t0004 a0006c0110t0004 a0006c0111t0004 a0006c0114t0004 a0007c0021t0006 a0007c0086t0006 a0008c0006t0005 a0014c0018t0004 a0024c0096t0005 a0038c0115t0004 a0071c0109t0004 a0083c0113t0004 a0084c0189t0006 a0085c0188t0006 a0086c0186t0006 a0087c0187t0006	a0006c0003t0004g0003 a0006c0003t0004g0114 a0006c0003t0004g0119 others(16): Show a0006c0003t0004g0003 a0006c0003t0004g0114 a0006c0003t0004g0119 a0006c0003t0004g0240 a0006c0110t0004g0113 a0006c0111t0004g0115 a0006c0114t0004g0117 a0007c0021t0006g0253 a0007c0086t0006g0252 a0008c0006t0005g0004 a0014c0018t0004g0015 a0024c0096t0005g0245 a0038c0115t0004g0118 a0071c0109t0004g0112 a0083c0113t0004g0116 a0084c0189t0006g0263 a0085c0188t0006g0256 a0086c0186t0006g0254 a0087c0187t0006g0255	29	358	0.0810	228	c.326 others(245): Show c.3260+438_3260+439insATCTACTCCTCACAGAACCAGCACAGTG ATAGGGCCGCCACCTCTTCCTGTGTTGCAAACCACAGGTCCACCCGCTGT CTACTCCTCACAGAACCAGCACAGTGATAGGGCCGCCGCCTCTTCCTGTG TTGCAAACCACAGGTCCACCCGCTGTCTACTCCTCACAGAACCAGCACAG TGATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGTCCACCCGCT	PLEC	ENSG00000178209.17	transcript	ENST00000345136.8	protein_coding	25/31			chr8	TogoVar
PLEC_chr8_143910153_143944597	143928675	C C	CCTGTGGT others(221): Show CCTGTGGTTTGCAACACAGGAAGAGGCGGCGGCCCTATCACTGTGCTGGT TCTGTGAGGAGTAGACAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGA GGCGGCGGCCCTATCACTGTGCTGGTTCTGTGAGGAGTAGACAGCGGGTG GACCTGTGGTTTGCAACACAGGAAGAGGTGGCGGCCCTATCACTGTGCTG GTTCTGTGAGGAGTAGATAGCGGGTGGAT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02976.hp1 HG02257.hp1 HG02976.hp1	a0008 a0075 a0008 a0075	a0008c0006 a0075c0181 a0008c0006 a0075c0181	a0008c0006t0005 a0075c0181t0005 a0008c0006t0005 a0075c0181t0005	a0008c0006t0005g0244 a0075c0181t0005g0247 a0008c0006t0005g0244 a0075c0181t0005g0247	2	358	0.0056	228	c.326 others(245): Show c.3260+427_3260+428insATCCACCCGCTATCTACTCCTCACAGAA CCAGCACAGTGATAGGGCCGCCACCTCTTCCTGTGTTGCAAACCACAGGT CCACCCGCTGTCTACTCCTCACAGAACCAGCACAGTGATAGGGCCGCCGC CTCTTCCTGTGTTGCAAACCACAGGTCCACCCGCTGTCTACTCCTCACAG AACCAGCACAGTGATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAG	PLEC	ENSG00000178209.17	transcript	ENST00000345136.8	protein_coding	25/31			chr8	TogoVar
PLEC_chr8_143910153_143978529	143928664	C C	CAGCGGGT others(221): Show CAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGCCCTATC ACTGTGCTGGTTCTGTGAGGAGTAGACAGCGGGTGGACCTGTGGTTTGCA ACACAGGAAGAGGCGGCGGCCCTATCACTGTGCTGGTTCTGTGAGGAGTA GACAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGTGGCGGCCCTA TCACTGTGCTGGTTCTGTGAGGAGTAGAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02258.hp1 HG02300.hp1 others(24): Show HG02145.hp2 HG02258.hp1 HG02300.hp1 HG02572.hp1 HG02622.hp1 HG02630.hp2 HG02717.hp2 HG02723.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp2 HG02965.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 NA18522.hp1 NA19043.hp2 NA19240.hp1	a0005 a0007 a0008 others(8): Show a0005 a0007 a0008 a0012 a0022 a0034 a0066 a0077 a0078 a0079 a0080	a0005c0003 a0005c0094 a0005c0095 others(12): Show a0005c0003 a0005c0094 a0005c0095 a0005c0098 a0007c0016 a0007c0075 a0008c0007 a0012c0012 a0022c0085 a0034c0099 a0066c0093 a0077c0097 a0078c0163 a0079c0162 a0080c0161	a0005c0003t0004 a0005c0094t0004 a0005c0095t0004 others(12): Show a0005c0003t0004 a0005c0094t0004 a0005c0095t0004 a0005c0098t0004 a0007c0016t0006 a0007c0075t0006 a0008c0007t0005 a0012c0012t0004 a0022c0085t0005 a0034c0099t0004 a0066c0093t0004 a0077c0097t0004 a0078c0163t0006 a0079c0162t0006 a0080c0161t0006	a0005c0003t0004g0013 a0005c0003t0004g0121 a0005c0003t0004g0122 others(24): Show a0005c0003t0004g0013 a0005c0003t0004g0121 a0005c0003t0004g0122 a0005c0003t0004g0123 a0005c0003t0004g0125 a0005c0003t0004g0126 a0005c0003t0004g0127 a0005c0003t0004g0129 a0005c0094t0004g0133 a0005c0095t0004g0119 a0005c0098t0004g0124 a0007c0016t0006g0085 a0007c0075t0006g0087 a0008c0007t0005g0078 a0008c0007t0005g0079 a0008c0007t0005g0080 a0008c0007t0005g0082 a0012c0012t0004g0131 a0012c0012t0004g0132 a0012c0012t0004g0134 a0022c0085t0005g0089 a0034c0099t0004g0130 a0066c0093t0004g0128 a0077c0097t0004g0120 a0078c0163t0006g0098 a0079c0162t0006g0101 a0080c0161t0006g0102	27	302	0.0894	228	c.321 others(245): Show c.3218+438_3218+439insATCTACTCCTCACAGAACCAGCACAGTG ATAGGGCCGCCACCTCTTCCTGTGTTGCAAACCACAGGTCCACCCGCTGT CTACTCCTCACAGAACCAGCACAGTGATAGGGCCGCCGCCTCTTCCTGTG TTGCAAACCACAGGTCCACCCGCTGTCTACTCCTCACAGAACCAGCACAG TGATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGTCCACCCGCT	PLEC	ENSG00000178209.17	transcript	ENST00000356346.7	protein_coding	25/31			chr8	TogoVar
PLEC_chr8_143910153_143978529	143928675	C C	CCTGTGGT others(221): Show CCTGTGGTTTGCAACACAGGAAGAGGCGGCGGCCCTATCACTGTGCTGGT TCTGTGAGGAGTAGACAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGA GGCGGCGGCCCTATCACTGTGCTGGTTCTGTGAGGAGTAGACAGCGGGTG GACCTGTGGTTTGCAACACAGGAAGAGGTGGCGGCCCTATCACTGTGCTG GTTCTGTGAGGAGTAGATAGCGGGTGGAT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02976.hp1 HG02257.hp1 HG02976.hp1	a0008 a0070 a0008 a0070	a0008c0007 a0070c0157 a0008c0007 a0070c0157	a0008c0007t0005 a0070c0157t0005 a0008c0007t0005 a0070c0157t0005	a0008c0007t0005g0075 a0070c0157t0005g0077 a0008c0007t0005g0075 a0070c0157t0005g0077	2	302	0.0066	228	c.321 others(245): Show c.3218+427_3218+428insATCCACCCGCTATCTACTCCTCACAGAA CCAGCACAGTGATAGGGCCGCCACCTCTTCCTGTGTTGCAAACCACAGGT CCACCCGCTGTCTACTCCTCACAGAACCAGCACAGTGATAGGGCCGCCGC CTCTTCCTGTGTTGCAAACCACAGGTCCACCCGCTGTCTACTCCTCACAG AACCAGCACAGTGATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAG	PLEC	ENSG00000178209.17	transcript	ENST00000356346.7	protein_coding	25/31			chr8	TogoVar
PLEKHG4B_chr5_87168_194966	141053	A A	ACCCCTTC others(221): Show ACCCCTTCCGCTGCACACCCCACCCCCTCCCCTGCACACCCCACCCCTTC CGCTGCACACCAACCCACTCCCCTGCACATCCCACCCCCTCCCCTGCACA CCCCACAACCTCCCCTGCACACCCCACCCCTTCCGCTGCACACCAACCCA CTCCCCTGCACACCCCCACCCCCTCCCCTGCACACCCCCACCCACTCCCC TGCACACCCCACCCCCTCCCCTGCACACC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG01081.hp2 others(12): Show HG00280.hp2 HG00323.hp2 HG01081.hp2 HG02004.hp2 HG02109.hp2 HG02145.hp2 HG02451.hp1 HG02486.hp1 HG02647.hp1 HG03041.hp1 HG03225.hp1 HG03471.hp2 HG04204.hp1 NA18906.hp2 NA19043.hp2	a0006 a0008 a0013 others(5): Show a0006 a0008 a0013 a0019 a0036 a0039 a0040 a0041	a0006c0068 a0008c0024 a0008c0025 others(8): Show a0006c0068 a0008c0024 a0008c0025 a0008c0079 a0013c0020 a0013c0067 a0019c0019 a0036c0075 a0039c0062 a0040c0063 a0041c0064	a0006c0068t0058 a0008c0024t0021 a0008c0025t0045 others(11): Show a0006c0068t0058 a0008c0024t0021 a0008c0025t0045 a0008c0025t0069 a0008c0079t0068 a0013c0020t0050 a0013c0020t0052 a0013c0067t0046 a0019c0019t0010 a0019c0019t0062 a0036c0075t0061 a0039c0062t0010 a0040c0063t0063 a0041c0064t0010	a0006c0068t0058g0194 a0008c0024t0021g0175 a0008c0024t0021g0176 others(12): Show a0006c0068t0058g0194 a0008c0024t0021g0175 a0008c0024t0021g0176 a0008c0025t0045g0172 a0008c0025t0069g0174 a0008c0079t0068g0173 a0013c0020t0050g0182 a0013c0020t0052g0183 a0013c0067t0046g0186 a0019c0019t0010g0164 a0019c0019t0062g0191 a0036c0075t0061g0178 a0039c0062t0010g0165 a0040c0063t0063g0189 a0041c0064t0010g0190	15	210	0.0714	228	c.147 others(245): Show c.1477+338_1477+339insCCCTTCCGCTGCACACCCCACCCCCTCC CCTGCACACCCCACCCCTTCCGCTGCACACCAACCCACTCCCCTGCACAT CCCACCCCCTCCCCTGCACACCCCACAACCTCCCCTGCACACCCCACCCC TTCCGCTGCACACCAACCCACTCCCCTGCACACCCCCACCCCCTCCCCTG CACACCCCCACCCACTCCCCTGCACACCCCACCCCCTCCCCTGCACACCC	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	141053	A A	ACCCCTTC others(221): Show ACCCCTTCCGCTGCACACCCCACCCCCTTCCCTGCACACCCCACCCCTTC CGCTGCACACCAACCCACTCCCCTGCACATCCCACCCCCTCCCCTGCACA CCCCACAACCTCCCCTGCACACCCCACCCCTTCCGCTGCACACCAACCCA CTCCCCTGCACACCCCCACCCCCTCCCCTGCACACCCCCACCCACTCCCC TGCACACCCCACCCCCTCCCCTGCACACC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02717.hp2 HG02257.hp1 HG02717.hp2	a0015 a0015	a0015c0076 a0015c0077 a0015c0076 a0015c0077	a0015c0076t0067 a0015c0077t0053 a0015c0076t0067 a0015c0077t0053	a0015c0076t0067g0192 a0015c0077t0053g0181 a0015c0076t0067g0192 a0015c0077t0053g0181	2	210	0.0095	228	c.147 others(245): Show c.1477+338_1477+339insCCCTTCCGCTGCACACCCCACCCCCTTC CCTGCACACCCCACCCCTTCCGCTGCACACCAACCCACTCCCCTGCACAT CCCACCCCCTCCCCTGCACACCCCACAACCTCCCCTGCACACCCCACCCC TTCCGCTGCACACCAACCCACTCCCCTGCACACCCCCACCCCCTCCCCTG CACACCCCCACCCACTCCCCTGCACACCCCACCCCCTCCCCTGCACACCC	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	165113	G G	GCGGGGCT others(221): Show GCGGGGCTCACACTAATGCTCTGACGGGGCGGAGCTCACACTAATGCTCT GATGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGGGCTCACACTAA TGCTGTGACAGGGGGCGGGGCTCACAGTAATGCTCTGACGGGGCGGAGCT CACACTAATGCTCTGATGGGGCGGAGCTCACACTAATGCTCTGACGGGGC GGGGCTCACACTAATGCTGTGACAGGGGT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0008 a0008	a0008c0025 a0008c0025	a0008c0025t0069 a0008c0025t0069	a0008c0025t0069g0174 a0008c0025t0069g0174	1	210	0.0048	228	c.347 others(247): Show c.3476+1568_3476+1569insGGCTCACACTAATGCTCTGACGGGGC GGAGCTCACACTAATGCTCTGATGGGGCGGAGCTCACACTAATGCTCTGA CGGGGCGGGGCTCACACTAATGCTGTGACAGGGGGCGGGGCTCACAGTAA TGCTCTGACGGGGCGGAGCTCACACTAATGCTCTGATGGGGCGGAGCTCA CACTAATGCTCTGACGGGGCGGGGCTCACACTAATGCTGTGACAGGGGTC GG	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	165369	G G	GGCTCACA others(221): Show GGCTCACACTAATGCTGTGACGGGGCGGGGCTCACACTAATGCTGTGACA GGGGTCGGAGCTCACACTAATGCTCTGACGGGGCGGGGCTCACAGTAATG CTCTGACGGGGCGGAGCTCACACTAATGCTCTGATGGGGCGGAGCTCACA CTAATGCTCTGACGGGGCGGGGCTCACACTAATGCTGTGACGGGGCGGGG CTCACACTAATGCTGTGACAGGGGTCGGA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0109 a0001c0007t0109	a0001c0007t0109g0147 a0001c0007t0109g0147	1	210	0.0048	228	c.347 others(247): Show c.3476+1828_3476+1829insCTAATGCTGTGACGGGGCGGGGCTCA CACTAATGCTGTGACAGGGGTCGGAGCTCACACTAATGCTCTGACGGGGC GGGGCTCACAGTAATGCTCTGACGGGGCGGAGCTCACACTAATGCTCTGA TGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGGGCTCACACTAATG CTGTGACGGGGCGGGGCTCACACTAATGCTGTGACAGGGGTCGGAGCTCA CA	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	165669	C C	CGGGGCGG others(221): Show CGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGAGCTCACACTAATG CTGTGACAGGGGGCGGGGCTCACAGTAATGCTCTGACGGGGCGGAGCTCA CACTAATGCTCTGACGGGGCGGGGCTCACAGTAATGCTGTGACGGGGCGG AGCTCACACTAATGCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACG GGGCGGAGCTCACACTAATGCTGTGACAG	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0006 a0006	a0006c0021 a0006c0021	a0006c0021t0018 a0006c0021t0018	a0006c0021t0018g0198 a0006c0021t0018g0198	1	210	0.0048	228	c.347 others(247): Show c.3476+2128_3476+2129insAGCTCACACTAATGCTCTGACGGGGC GGAGCTCACACTAATGCTGTGACAGGGGGCGGGGCTCACAGTAATGCTCT GACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGGGCTCACAGTAA TGCTGTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGAGCTCA CACTAATGCTCTGACGGGGCGGAGCTCACACTAATGCTGTGACAGGGGGC GG	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	165736	T T	TCACACAC others(221): Show TCACACACTAATGCTCTGACGGGGCAGAGCTCACACTAATGCTGTGACGG GGCGGGGCTCACAGTAATGCTCTGACGGGGCGGAGCTCACACTAATGCTC TGATGGGGCGGAGCTCACACACTAATGCTCTGACGGGGCGGAGCTCACAC TAATGCTGTGACGGGGCGGGGCTCACAGTAATGCTCTGACGGGGCGGGGC TCACACTAATGCTCTGACGGGGCGGAGCT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0094 a0001c0001t0032g0094	1	210	0.0048	228	c.347 others(247): Show c.3476+2193_3476+2194insACTAATGCTCTGACGGGGCAGAGCTC ACACTAATGCTGTGACGGGGCGGGGCTCACAGTAATGCTCTGACGGGGCG GAGCTCACACTAATGCTCTGATGGGGCGGAGCTCACACACTAATGCTCTG ACGGGGCGGAGCTCACACTAATGCTGTGACGGGGCGGGGCTCACAGTAAT GCTCTGACGGGGCGGGGCTCACACTAATGCTCTGACGGGGCGGAGCTCAC AC	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PNPLA1_chr6_36265060_36318955	36275948	T T	TTTTCTTT others(221): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0011 a0011	a0011c0021 a0011c0021	a0011c0021t0001 a0011c0021t0001	a0011c0021t0001g0379 a0011c0021t0001g0379	1	386	0.0026	228	c.205 others(245): Show c.205+5311_205+5312insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	PNPLA1	ENSG00000180316.13	transcript	ENST00000636260.2	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
PRPF31_chr19_54110754_54136713	54133762	C C	CCTCTCTC others(221): Show CCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCT CCACCTTCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCAC CTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCT CCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCT CTCTCTCTTCCTCCCTCTCCACCTCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	227	0.0044	228	c.23 others(239): Show c.2330_*2331insCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTC TCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTGTC CCTCCCTCTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCC CCTCTCTCTCTTCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCT CTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCT	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2050		chr19	TogoVar
PTDSS2_chr11_445279_496399	480156	A A	ACCCTGCA others(221): Show ACCCTGCACAGTGCCTCTGAGGTTCACCCAGGATCATGCGGTGGGCAGCC TCTTCCCGCCCTGCACAGTGCCTCTGAGGTTCACCCAGGATCATGCGGTG TGCAGCCTCTTCCCGCCCTGCACAGTGCCTCTGAGGTTCACCCAGGATCA TGCGGTGGGCAGCCTCTTCCCGCCCTGCACAGTGCCTCTGAGGTTCACCC AGGATCATGCGGTGGGCAGCCTCTTCCCG	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0095 a0001c0001t0002g0095	1	346	0.0029	228	c.435 others(245): Show c.435+1104_435+1331dupTGCAGCCTCTTCCCGCCCTGCACAGTGC CTCTGAGGTTCACCCAGGATCATGCGGTGGGCAGCCTCTTCCCGCCCTGC ACAGTGCCTCTGAGGTTCACCCAGGATCATGCGGTGGGCAGCCTCTTCCC GCCCTGCACAGTGCCTCTGAGGTTCACCCAGGATCATGCGGTGGGCAGCC TCTTCCCGCCCTGCACAGTGCCTCTGAGGTTCACCCAGGATCATGCGGTG	PTDSS2	ENSG00000174915.12	transcript	ENST00000308020.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
PTPN4_chr2_119754922_119989899	119843900	G G	GGACGGGG others(221): Show GGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTC CCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCTGGGCGGGGGGCCGACATCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCCGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCCGGGCAGAGGCGCCCCTCACCTCCCA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02486.hp2 HG02559.hp2 others(8): Show HG01192.hp2 HG02486.hp2 HG02559.hp2 HG02615.hp2 HG02647.hp2 HG02922.hp2 HG02970.hp1 HG03195.hp1 HG03195.hp2 HG03453.hp2 HG03579.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0008 a0001c0001 a0005c0008	a0001c0001t0005 a0001c0001t0009 a0001c0001t0034 others(3): Show a0001c0001t0005 a0001c0001t0009 a0001c0001t0034 a0001c0001t0039 a0001c0001t0040 a0005c0008t0005	a0001c0001t0005g0036 a0001c0001t0005g0038 a0001c0001t0005g0039 others(8): Show a0001c0001t0005g0036 a0001c0001t0005g0038 a0001c0001t0005g0039 a0001c0001t0009g0114 a0001c0001t0009g0115 a0001c0001t0009g0150 a0001c0001t0009g0151 a0001c0001t0034g0032 a0001c0001t0039g0037 a0001c0001t0040g0107 a0005c0008t0005g0035	11	252	0.0437	228	c.139 others(247): Show c.139-18614_139-18613insGGGGGCTGACCCCCCCCCACCTCCCT CCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCTGGGCGGGGGGCCGACATCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCCGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGC GG	PTPN4	ENSG00000088179.9	transcript	ENST00000263708.7	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
PTPN4_chr2_119754922_119989899	119843916	C C	CGGGCGGG others(221): Show CGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGTGGCTG GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CTGGGCGGGGGGCCGACATCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CCGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCAGACGGGGCGGCTGGCG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02922.hp1 HG03486.hp1 others(1): Show HG02630.hp1 HG02922.hp1 HG03486.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0030 a0001c0001t0037 a0001c0001t0005 a0001c0001t0030 a0001c0001t0037	a0001c0001t0005g0019 a0001c0001t0005g0022 a0001c0001t0030g0033 others(1): Show a0001c0001t0005g0019 a0001c0001t0005g0022 a0001c0001t0030g0033 a0001c0001t0037g0018	4	252	0.0159	228	c.139 others(247): Show c.139-18614_139-18613insGGGGGCTGACCCCCCCCCACCTCCCT CCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCTGGGCGGGGGGCCGACATCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCCGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCGGGGC GG	PTPN4	ENSG00000088179.9	transcript	ENST00000263708.7	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
PTPRM_chr18_7562316_8411856	7985469	G G	GTATATAA others(221): Show GTATATAAATATATACATATACTGGTAGATACGTATATAAATATATACAT ATACTGGTAGATACGTATATAAATATATACATATACTGGTAGATACGTAT ATAAATATATACATATACTGGTAGATACGTATATAAATATATACATATAC TGGTAGATACGTATATAAATATATACATATACTGGTAGATACGTATATAA ATATATACATATACTGGTAGATACGTATA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01884.hp1 HG02145.hp2 others(4): Show HG00741.hp1 HG01884.hp1 HG02145.hp2 HG02258.hp1 HG02630.hp2 HG03195.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0003 a0001c0003t0001 a0001c0003t0002 others(1): Show a0001c0001t0003 a0001c0003t0001 a0001c0003t0002 a0001c0005t0003	a0001c0001t0003g0072 a0001c0001t0003g0075 a0001c0003t0001g0005 others(4): Show a0001c0001t0003g0072 a0001c0001t0003g0075 a0001c0003t0001g0005 a0001c0003t0002g0003 a0001c0003t0002g0011 a0001c0003t0002g0022 a0001c0005t0003g0076	7	80	0.0875	228	c.113 others(249): Show c.1132+30057_1132+30058insTATAAATATATACATATACTGGTA GATACGTATATAAATATATACATATACTGGTAGATACGTATATAAATATA TACATATACTGGTAGATACGTATATAAATATATACATATACTGGTAGATA CGTATATAAATATATACATATACTGGTAGATACGTATATAAATATATACA TATACTGGTAGATACGTATATAAATATATACATATACTGGTAGATACGTA TATA	PTPRM	ENSG00000173482.17	transcript	ENST00000580170.6	protein_coding	7/32		INFO_REALIGN_3_PRIME	chr18	TogoVar
RALGAPA2_chr20_20384530_20717644	20458776	A A	ATATATAT others(221): Show ATATATATAGACCTATATATATATATAGACCTATATATATATATAGACCT ATATATATATAGACCTATATATATATATAGACCTATATATATATATAGAC CTATATATATATAGACCTATATATATATATAGACCTATATATATATAGAC CTATATATATATATAGACCTATATATATAGACCTATATATATATAGACCT ATATATATAGACCTATATATATATAGACC	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0011 a0001c0011t0011	a0001c0011t0011g0066 a0001c0011t0011g0066	1	122	0.0082	228	c.549 others(249): Show c.5495+14052_5495+14053insGGTCTATATATATATAGGTCTATA TATATAGGTCTATATATATATAGGTCTATATATATAGGTCTATATATATA TATAGGTCTATATATATATAGGTCTATATATATATATAGGTCTATATATA TATAGGTCTATATATATATATAGGTCTATATATATATATAGGTCTATATA TATATAGGTCTATATATATATATAGGTCTATATATATATATAGGTCTATA TATA	RALGAPA2	ENSG00000188559.16	transcript	ENST00000202677.12	protein_coding	37/39			chr20	TogoVar
RASA3_chr13_113972783_114137623	114008553	C C	CCCACGCA others(221): Show CCCACGCACCGCGTTCCTGACCGTGGGGAAGGAGCAGAGCCCTGCGGTCC TGGACGTTCCCCACGCACCGCGTTCCTGACCGTGGGGAGGAGCAGAGCCC TGCGGTCTGGACGTTCCCCACGCACCGCGTTCCTGACCGTGGGGAGGAGC AGAGCCCTGCGGTCTGGACGTTCCCCACGCACCGCGTTCCTGACCGTGGG GAGGAGCAGAGCCCTGCGGTCTGGACGTT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0016 a0001c0005t0001g0016	1	67	0.0149	228	c.166 others(245): Show c.1668+833_1668+834insAACGTCCAGACCGCAGGGCTCTGCTCCT CCCCACGGTCAGGAACGCGGTGCGTGGGGAACGTCCAGACCGCAGGGCTC TGCTCCTCCCCACGGTCAGGAACGCGGTGCGTGGGGAACGTCCAGACCGC AGGGCTCTGCTCCTCCCCACGGTCAGGAACGCGGTGCGTGGGGAACGTCC AGGACCGCAGGGCTCTGCTCCTTCCCCACGGTCAGGAACGCGGTGCGTGG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	17/23			chr13	TogoVar
RBCK1_chr20_403299_437139	420665	G G	GCCCACCC others(221): Show GCCCACCCCATCCCCCGTCCCCATCCCCCATCCCCCGTCCCCCCGTCCCC ATCCCCCGTCCCCCATCTCCTGTCCCCCGTCCCCATCCCCCGTCCCCCGT CCCCCATCCCATCCCCCACCCCCATCCCCCGTCCCCCGTCCCCATCCCCC CATCCCCCATCCCCATCCCCCGTCCCCCGTCCCCCATCTCCTGTCCCCCG TCCCCCATCCCCCGTCCCCATCCCCCACC	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0349 a0001c0001t0002g0349	1	452	0.0022	228	c.757 others(243): Show c.757-202_757-201insCCCCATCCCCCGTCCCCATCCCCCATCCCC CGTCCCCCCGTCCCCATCCCCCGTCCCCCATCTCCTGTCCCCCGTCCCCA TCCCCCGTCCCCCGTCCCCCATCCCATCCCCCACCCCCATCCCCCGTCCC CCGTCCCCATCCCCCCATCCCCCATCCCCATCCCCCGTCCCCCGTCCCCC ATCTCCTGTCCCCCGTCCCCCATCCCCCGTCCCCATCCCCCACCCCCA	RBCK1	ENSG00000125826.22	transcript	ENST00000356286.10	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr20	TogoVar

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