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
NPIPB15_chr16_74371306_74397115	74377848	C C	CCTCCCCT others(90): Show CCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCCCCCCTCCCCCTCCCCTCC CCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0041 a0001c0001t0006g0041	1	241	0.0041	97	c.-22 others(112): Show c.-22-104_-22-103insCTCCCCTCCCCCTCCCCCTCCCCCTCCCCC CCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCC TCCCCCTCCCCCTCCCG	NPIPB15	ENSG00000196436.9	transcript	ENST00000692376.1	protein_coding	1/7			chr16	TogoVar
NTN5_chr19_48656407_48678017	48662819	G G	GGAGATCC others(90): Show GGAGATCCCTGTGGAAGGTGGGGAAAATCTTTCCACCTGTGAAGGCCTAG AACACTAGTGACCAGATGAGGTTCCTGAGGGAGAAGTCTGCGGTCCTA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0002 a0003c0006t0002	a0003c0006t0002g0091 a0003c0006t0002g0091	1	410	0.0024	97	c.110 others(114): Show c.1105+547_1105+643dupTAGGACCGCAGACTTCTCCCTCAGGAAC CTCATCTGGTCACTAGTGTTCTAGGCCTTCACAGGTGGAAAGATTTTCCC CACCTTCCACAGGGATCTC	NTN5	ENSG00000142233.14	transcript	ENST00000270235.11	protein_coding	6/6			chr19	TogoVar
NXN_chr17_794310_984776	948951	T T	TCCCCGTG others(90): Show TCCCCGTGGCCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCACCCTGC CTCCTCCTCTCCCCGTGGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0190 a0001c0001t0002g0190	1	193	0.0052	97	c.360 others(116): Show c.360+30367_360+30368insGAGAGGAGGAGGCAGGGGGAGAGGAG GAGGCCACGGGGAGAGGAGGAGGCAGGGTGGGGAGAGGAGGAGGCAGGGG GAGAGGAGGAGGGCCACGGGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OBI1_chr13_78609289_78664155	78659312	A A	AAAAAAAA others(90): Show AAAAAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	33	0.0303	97	c.-19 others(106): Show c.-193_-192insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTTTTTT	OBI1	ENSG00000152193.8	transcript	ENST00000282003.7	protein_coding		158		chr13	TogoVar
OCLN_chr5_69487790_69563104	69515539	C C	CCCCCCCC others(90): Show CCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGGGGGGGCTGA	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18977.hp1 NA18962.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0202 a0001c0001t0001g0203	2	28	0.0714	97	c.891 others(114): Show c.891+1437_891+1438insACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCG GGGGGGGGCTGACCCCCCC	OCLN	ENSG00000197822.12	transcript	ENST00000396442.7	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
OR1F1_chr16_3183204_3211556	3207193	G G	GGAGAGGG others(90): Show GGAGAGGGGAGGGGAGGGAAATGGAGGAGGGGGAGGGGAGGGAAATGGAG GAGGGGGAGGGGAGGGGAGGAGAGGGGAGGGGAGGGGAGGGGAGGGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0137 a0002c0002t0001g0137	1	194	0.0052	97	c.20 others(108): Show c.2008_*2009insGAGAGGGGAGGGGAGGGAAATGGAGGAGGGGGAG GGGAGGGAAATGGAGGAGGGGGAGGGGAGGGGAGGAGAGGGGAGGGGAGG GGAGGGGAGGGAA	OR1F1	ENSG00000168124.3	transcript	ENST00000304646.3	protein_coding		638		chr16	TogoVar
OR52E6_chr11_5835928_5846897	5844307	T T	TATATAAT others(90): Show TATATAATATATATTAAATATAATATATATAATATATATATAATATTATT TTATATTTTATATATATTATATAGATAATATATTTTATATATATTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	448	0.0022	97	c.-24 others(108): Show c.-2411_-2410insTATAATATATATAAAATATATTATCTATATAATA TATATAAAATATAAAATAATATTATATATATATTATATATATTATATTTA ATATATATTATAT	OR52E6	ENSG00000205409.3	transcript	ENST00000329322.5	protein_coding		2411		chr11	TogoVar
P2RY8_chrX_1457581_1542185	1514352	T T	TCCCTTTC others(90): Show TCCCTTTCCTCCCCTCCCTTCCCTTCCCTTCCTTTCCCTTCCCTTTCCTC CCCTCCCTTCCCTTTCTTTTCCTTTCCCTTCCCTTCCCTTTCCTCCCC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0042 a0001c0001t0002g0042	1	113	0.0088	97	c.-25 others(116): Show c.-25+22568_-25+22569insGGGGAGGAAAGGGAAGGGAAGGGAAA GGAAAAGAAAGGGAAGGGAGGGGAGGAAAGGGAAGGGAAAGGAAGGGAAG GGAAGGGAGGGGAGGAAAGGG	P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	1/1			chrX	TogoVar
PARL_chr3_183824271_183889880	183882222	A A	AAAAAAAA others(90): Show AAAAAAAAAAATATATATATATATATATATATATATTTATATATATATAT ATATATTTATATATATATATATTTATATATATATATATATATTTATAT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	287	0.0035	97	c.125 others(114): Show c.125+2499_125+2500insATATAAATATATATATATATATATAAAT ATATATATATATAAATATATATATATATATATAAATATATATATATATAT ATATATATATTTTTTTTTT	PARL	ENSG00000175193.14	transcript	ENST00000317096.9	protein_coding	1/9			chr3	TogoVar
PARL_chr3_183824271_183889880	183882222	A A	AAAAAAAA others(90): Show AAAAAAAAAAATATATATATATATATATATATATATTTATATATATATAT ATATTTATATATATATATATATTTATATATATATATATATATTTATAT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG06807.hp2 HG03195.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	288	0.0069	97	c.125 others(114): Show c.125+2499_125+2500insATATAAATATATATATATATATATAAAT ATATATATATATATAAATATATATATATATATAAATATATATATATATAT ATATATATATTTTTTTTTT	PARL	ENSG00000175193.14	transcript	ENST00000317096.9	protein_coding	1/9			chr3	TogoVar
PARP16_chr15_65253099_65291883	65269200	C C	CTCTCTCT others(90): Show CTCTCTCTCTCTCTCTCTCCTCTCTCTCTCTCTCTCTCCTCTCTCTCCCT CCCTCCCTCCCTCCCTCCCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	310	0.0032	97	c.312 others(114): Show c.312+1734_312+1735insAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGGGAGGGAGGGAGGGAGGGAGGGAGAGAGAGGAGAGAGAGAGAGAGAGA GGAGAGAGAGAGAGAGAGA	PARP16	ENSG00000138617.16	transcript	ENST00000649807.2	protein_coding	2/5			chr15	TogoVar
PATL1_chr11_59631716_59674037	59632652	T T	TATATATA others(90): Show TATATATATATCTATATATATCTATATATATATCTATATATATATCTATA TATCTATATATATCTATATATATATCTATATATATCTATATATATATC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	274	0.0036	97	c.57 others(108): Show c.5737_*5738insGATATATATATAGATATATATAGATATATATATA GATATATATAGATATATAGATATATATATAGATATATATATAGATATATA TAGATATATATAT	PATL1	ENSG00000166889.14	transcript	ENST00000300146.10	protein_coding		4063		chr11	TogoVar
PAX1_chr20_21700664_21723481	21721656	A A	ATATATGT others(90): Show ATATATGTAATACATATATAACATATATGTATTACATATATGTAATACAT ATATAACATATATTACGTATATGTAATACACATATAACATATATTACG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18961.hp2 NA18971.hp2 NA18995.hp2 NA18961.hp2 NA18971.hp2 NA18995.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0010 a0001c0002t0004g0010	3	280	0.0107	97	c.70 others(108): Show c.7094_*7095insTATATGTAATACATATATAACATATATGTATTAC ATATATGTAATACATATATAACATATATTACGTATATGTAATACACATAT AACATATATTACG	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3176		chr20	TogoVar
PCBP3_chr21_45638725_45947450	45746956	T T	TTGTGTCA others(90): Show TTGTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGTTG TGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCCACACGGTGTTG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02451.hp2 HG02258.hp1 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0280 a0001c0001t0011g0281 a0001c0001t0011g0280 a0001c0001t0011g0281	2	284	0.0070	97	c.-16 others(116): Show c.-161-8458_-161-8457insGTCAGCATCGCCGTGTCAGTCCATTG ACGTAGCGCACACGGTGTTGTGTCAGCATCGCCGTGTCAGTCCATTGACG TAGCGCCACACGGTGTTGTGT	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCGF3_chr4_700832_775089	731701	C C	CCCCTCCC others(90): Show CCCCTCCCCTCGTGGGTGGGCGTGGTCCTCAGGGGCGTAGGGCGGGGCTC TCCTCCCCTCGTGGGTGGGCGTGGTCCTCAGGGGCGTAGGGCGGGGCT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0174 a0001c0001t0014g0174	1	358	0.0028	97	c.-10 others(112): Show c.-10+594_-10+595insTCCCCTCGTGGGTGGGCGTGGTCCTCAGGG GCGTAGGGCGGGGCTCTCCTCCCCTCGTGGGTGGGCGTGGTCCTCAGGGG CGTAGGGCGGGGCTCCC	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PDE9A_chr21_42648621_42780509	42778520	T T	TGCCCGGC others(90): Show TGCCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTGGGGGGGTCAGCCCCCG CCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTGGGGGGGTCAGCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	322	0.0031	97	c.32 others(108): Show c.3227_*3228insGCCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTGG GGGGGTCAGCCCCCGCCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTGGGG GGGTCAGCCCCCC	PDE9A	ENSG00000160191.18	transcript	ENST00000291539.11	protein_coding		3012		chr21	TogoVar
PDGFA_chr7_492258_524846	510661	A A	AGGAGGGA others(90): Show AGGAGGGACCCTGGCTGCTTGGTAGGGGCGGCCCCGGGCTCGGGTGGGGA GGGGAGGGGAGGGGCAGGGCTCACCTTGACGCTGCGGTGGTGGACGCG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0161 a0001c0001t0008g0161	1	299	0.0033	97	c.453 others(112): Show c.453+147_453+148insCGCGTCCACCACCGCAGCGTCAAGGTGAGC CCTGCCCCTCCCCTCCCCTCCCCACCCGAGCCCGGGGCCGCCCCTACCAA GCAGCCAGGGTCCCTCC	PDGFA	ENSG00000197461.13	transcript	ENST00000402802.8	protein_coding	4/5			chr7	TogoVar
PDIA6_chr2_10778391_10817785	10806648	A A	AAGAAGGA others(90): Show AAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGACAGACAGAC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01255.hp2 HG01515.hp1 others(3): Show HG00733.hp1 HG01255.hp2 HG01515.hp1 HG01517.hp2 HG03834.hp2 NA18973.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0022 a0001c0003t0001g0229 a0001c0003t0001g0235 others(2): Show a0001c0003t0001g0022 a0001c0003t0001g0229 a0001c0003t0001g0235 a0001c0003t0001g0236 a0001c0003t0001g0238	6	233	0.0258	97	c.20- others(112): Show c.20-4009_20-4008insGTCTGTCTGTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCT	PDIA6	ENSG00000143870.13	transcript	ENST00000272227.8	protein_coding	1/12			chr2	TogoVar
PDIA6_chr2_10778391_10817785	10806648	A A	AAGAAGGA others(90): Show AAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGACAGACAGAC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0237 a0001c0003t0001g0237	1	228	0.0044	97	c.20- others(112): Show c.20-4009_20-4008insGTCTGTCTGTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCT	PDIA6	ENSG00000143870.13	transcript	ENST00000272227.8	protein_coding	1/12			chr2	TogoVar
PDZK1IP1_chr1_47178582_47195036	47179107	T T	TCTCTCTC others(90): Show TCTCTCTCTCTCTCTCTCTCTCCCCCTCTCTCCCTCTCTCTCTCTCTCTC TCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTCTCCCTCTCCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	14	0.0714	97	c.48 others(108): Show c.4863_*4864insGAGGGAGAGGGAGAGGGAGGGGGAGGGGGAGGGG GAGGGGGAGGGGGAGAGAGAGAGAGAGAGAGGGAGAGAGGGGGAGAGAGA GAGAGAGAGAGAG	PDZK1IP1	ENSG00000162366.8	transcript	ENST00000294338.7	protein_coding		4474		chr1	TogoVar
PDZK1IP1_chr1_47178582_47195036	47179107	T T	TTCTCTCT others(90): Show TTCTCTCTCTCTCTCTCTCTCCCCCTCTCTCCCTCTCTCTCTCTCTCTCT CCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTCTCCCTCTCCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	14	0.0714	97	c.48 others(108): Show c.4863_*4864insGAGGGAGAGGGAGAGGGAGGGGGAGGGGGAGGGG GAGGGGGAGGGGGGAGAGAGAGAGAGAGAGAGGGAGAGAGGGGGAGAGAG AGAGAGAGAGAGA	PDZK1IP1	ENSG00000162366.8	transcript	ENST00000294338.7	protein_coding		4474		chr1	TogoVar
PDZK1IP1_chr1_47178582_47195036	47179107	T T	TTCTCTCT others(90): Show TTCTCTCTCTCTCTCTCTCTCCCCCTCTCTCCCTCTCTCTCTCTCTCTCT CCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTCTCCCTCTCCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18953.hp2 NA19065.hp1 NA18953.hp2 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0001 a0001c0001t0001g0002	2	15	0.1333	97	c.48 others(108): Show c.4863_*4864insGAGAGGAGAGGGAGAGGGAGGGGGAGGGGGAGGG GGAGGGGGAGGGGGAGAGAGAGAGAGAGAGAGGGAGAGAGGGGGAGAGAG AGAGAGAGAGAGA	PDZK1IP1	ENSG00000162366.8	transcript	ENST00000294338.7	protein_coding		4474		chr1	TogoVar
PDZK1IP1_chr1_47178582_47195036	47179107	T T	TTCTCTCT others(90): Show TTCTCTCTCTCTCTCTCTCTCCCCCTCTCTCCCTCTCTCTCTCTCTCTCT TCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTCTCCCTCTCCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0008 a0001c0002t0001g0008	1	14	0.0714	97	c.48 others(108): Show c.4863_*4864insGAGGGAGAGGGAGAGGGAGGGGGAGGGGGAGGGG GAGGGGGAGGGGGAAGAGAGAGAGAGAGAGAGGGAGAGAGGGGGAGAGAG AGAGAGAGAGAGA	PDZK1IP1	ENSG00000162366.8	transcript	ENST00000294338.7	protein_coding		4474		chr1	TogoVar
PDZK1IP1_chr1_47178582_47195036	47179107	T T	TTCTCTCT others(90): Show TTCTCTCTCTCTCTCTCTCTCCCCCTCTCTCCTCTCTCTCTCTCTCTCTC TCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTCTCCCTCTCCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	14	0.0714	97	c.48 others(108): Show c.4863_*4864insGAGGGAGAGGGAGAGGGAGGGGGAGGGGGAGGGG GAGGGGGAGGGGGAGAGAGAGAGAGAGAGAGAGGAGAGAGGGGGAGAGAG AGAGAGAGAGAGA	PDZK1IP1	ENSG00000162366.8	transcript	ENST00000294338.7	protein_coding		4474		chr1	TogoVar
PFKP_chr10_3062548_3141802	3085090	T T	TCCACTCT others(90): Show TCCACTCTCCAGCACAGTCCCTCACCCCCTCCCCAGCACAGTCCCTCACC CCCTCCCCAGCACAGTCCCCCACCCCCTCCCCAGCACAGTCCCCCACC	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0007 a0001c0009t0007	a0001c0009t0007g0082 a0001c0009t0007g0082	1	397	0.0025	97	c.186 others(114): Show c.186+2631_186+2632insACTCTCCAGCACAGTCCCTCACCCCCTC CCCAGCACAGTCCCTCACCCCCTCCCCAGCACAGTCCCCCACCCCCTCCC CAGCACAGTCCCCCACCCC	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKP_chr10_3062548_3141802	3085512	T T	TCCAGCAC others(90): Show TCCAGCACAGTCCCCCCACTCCCTCCCCCAGCACAGTCCCCCACTCCCTC CCAGCACAGTCCCCCACTCCCTCCCCAGCACAGTCCCCCACTCCCTCC	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0144 a0001c0002t0003g0144	1	229	0.0044	97	c.186 others(114): Show c.186+3066_186+3067insCACTCCCTCCCCCAGCACAGTCCCCCAC TCCCTCCCAGCACAGTCCCCCACTCCCTCCCCAGCACAGTCCCCCACTCC CTCCCCAGCACAGTCCCCC	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKP_chr10_3062548_3141802	3085757	C C	CAGCACAG others(90): Show CAGCACAGTCCCCCACTCCACTCTCCAGCACAGTCCCCCACTCCACTCTC CAGCACAGTCCCCCACTCCACTCCAGCACAGTCCTCCACCCCCTCCCT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00639.hp1 HG00733.hp1 others(37): Show HG00323.hp2 HG00639.hp1 HG00733.hp1 HG00735.hp2 HG00741.hp2 HG01106.hp1 HG01109.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01256.hp1 HG01261.hp2 HG01358.hp2 HG01433.hp1 HG01516.hp2 HG02109.hp2 HG02647.hp1 HG02698.hp2 HG02717.hp2 HG02886.hp1 HG02970.hp2 HG03139.hp2 HG03490.hp1 HG03491.hp2 HG03669.hp1 HG03710.hp1 HG04204.hp1 NA18964.hp1 NA18967.hp2 NA18968.hp2 NA18986.hp2 NA18989.hp2 NA18994.hp2 NA18999.hp2 NA19030.hp2 NA19043.hp2 NA19081.hp2 NA19082.hp1 NA20752.hp1 NA20805.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0003 others(18): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0009 a0001c0011 a0001c0012 a0001c0014 a0001c0018 a0001c0019 a0001c0020 a0001c0025 a0001c0026 a0001c0028 a0001c0047 a0001c0058 a0001c0064 a0001c0065 a0005c0063	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(28): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0003t0001 a0001c0003t0007 a0001c0003t0011 a0001c0004t0002 a0001c0006t0001 a0001c0006t0007 a0001c0006t0014 a0001c0007t0005 a0001c0009t0007 a0001c0011t0004 a0001c0012t0002 a0001c0014t0006 a0001c0018t0005 a0001c0019t0003 a0001c0020t0014 a0001c0025t0001 a0001c0026t0001 a0001c0028t0007 a0001c0047t0018 a0001c0058t0009 a0001c0064t0002 a0001c0065t0001 a0005c0063t0005	a0001c0001t0002g0111 a0001c0001t0003g0035 a0001c0001t0004g0328 others(37): Show a0001c0001t0002g0111 a0001c0001t0003g0035 a0001c0001t0004g0328 a0001c0001t0006g0025 a0001c0001t0008g0148 a0001c0002t0002g0030 a0001c0002t0002g0150 a0001c0002t0002g0247 a0001c0002t0002g0377 a0001c0002t0003g0078 a0001c0002t0003g0156 a0001c0002t0004g0026 a0001c0003t0001g0010 a0001c0003t0007g0104 a0001c0003t0007g0158 a0001c0003t0011g0053 a0001c0004t0002g0002 a0001c0006t0001g0036 a0001c0006t0001g0108 a0001c0006t0007g0081 a0001c0006t0007g0251 a0001c0006t0014g0020 a0001c0007t0005g0011 a0001c0009t0007g0082 a0001c0011t0004g0197 a0001c0012t0002g0042 a0001c0014t0006g0229 a0001c0018t0005g0070 a0001c0018t0005g0242 a0001c0019t0003g0249 a0001c0020t0014g0140 a0001c0025t0001g0225 a0001c0026t0001g0399 a0001c0028t0007g0213 a0001c0028t0007g0245 a0001c0047t0018g0228 a0001c0058t0009g0214 a0001c0064t0002g0149 a0001c0065t0001g0166 a0005c0063t0005g0246	40	248	0.1613	97	c.186 others(114): Show c.186+3306_186+3307insCCCACTCCACTCTCCAGCACAGTCCCCC ACTCCACTCTCCAGCACAGTCCCCCACTCCACTCCAGCACAGTCCTCCAC CCCCTCCCTAGCACAGTCC	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKP_chr10_3062548_3141802	3085812	A A	AGTCCTCC others(90): Show AGTCCTCCACCCCCTCCCCAGGAGAGTCCTCCACCCCCTCCCCAGCACTG TCCTCCACCCTGGGCCAAAGCACTGTCCTCCACCCTGGCCAAAGCATT	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0097 a0001c0009t0001g0097	1	7	0.1429	97	c.186 others(114): Show c.186+3358_186+3359insACCCCCTCCCCAGGAGAGTCCTCCACCC CCTCCCCAGCACTGTCCTCCACCCTGGGCCAAAGCACTGTCCTCCACCCT GGCCAAAGCATTGTCCTCC	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKP_chr10_3062548_3141802	3106724	T T	TGCCCCTT others(90): Show TGCCCCTTCACACCTGCCCCTCTCCTCGCCCCTGCCGCTTCACCCCTGCC CCTCTCCTCACCCCTGCCCCCTGCCCCTTCACCCCTGCCCCTCTCCTC	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	233	0.0043	97	c.775 others(112): Show c.775-484_775-483insTCACACCTGCCCCTCTCCTCGCCCCTGCCG CTTCACCCCTGCCCCTCTCCTCACCCCTGCCCCCTGCCCCTTCACCCCTG CCCCTCTCCTCGCCCCT	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	7/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PGS1_chr17_78373649_78429659	78424410	T T	TTTTCAGA others(90): Show TTTTCAGAGCCTCATCTGTCAGCCTTAATGTCAGTGGCAGGAAGTCATAA CTCCAGCTAAAAATTACAGAGTAAAGTTCCCTGATTCTTAATGTGTAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0014 a0004c0009t0014	a0004c0009t0014g0145 a0004c0009t0014g0145	1	396	0.0025	97	c.36 others(106): Show c.362_*458dupTTCAGAGCCTCATCTGTCAGCCTTAATGTCAGTGGC AGGAAGTCATAACTCCAGCTAAAAATTACAGAGTAAAGTTCCCTGATTCT TAATGTGTAAT	PGS1	ENSG00000087157.19	transcript	ENST00000262764.11	protein_coding	10/10	4844	INFO_REALIGN_3_PRIME	chr17	TogoVar
PIK3C2A_chr11_17081575_17212986	17193868	A A	AGGAGGGG others(90): Show AGGAGGGGAGGGGAGGGGAGGGGGGGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0015 a0001c0018t0015	a0001c0018t0015g0172 a0001c0018t0015g0172	1	191	0.0052	97	c.-66 others(116): Show c.-66+13979_-66+13980insCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCC CCCTCCCCTCCCCTCCCCTCC	PIK3C2A	ENSG00000011405.14	transcript	ENST00000691414.1	protein_coding	1/32			chr11	TogoVar
PINX1_chr8_10759961_10844875	10833582	G G	GACTGGGG others(90): Show GACTGGGGTGCGGGAGGCTGGAGAAGAATGACGACTGGGGCTGCGGGAGG CTGGAGACAAACGACGACTGGGCTGCGGGAGGCTGGAGAAGAATGACA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	349	0.0029	97	c.130 others(112): Show c.130-599_130-598insTGTCATTCTTCTCCAGCCTCCCGCAGCCCA GTCGTCGTTTGTCTCCAGCCTCCCGCAGCCCCAGTCGTCATTCTTCTCCA GCCTCCCGCACCCCAGT	PINX1	ENSG00000254093.9	transcript	ENST00000314787.8	protein_coding	2/6			chr8	TogoVar
PLCXD1_chrX_276381_308356	296982	A A	ACATGGGG others(90): Show ACATGGGGATTAGGACGTGGACATCTTTGGGGACATTATTCTGTCTCCCA CATGGGATTAGGACGTGGACATCTTTGGGGCCATTATCCTGTCTACCT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0084 a0001c0002t0084	a0001c0002t0084g0156 a0001c0002t0084g0156	1	171	0.0058	97	c.734 others(114): Show c.734-2077_734-2076insTCTGTCTCCCACATGGGATTAGGACGTG GACATCTTTGGGGCCATTATCCTGTCTACCTCATGGGGATTAGGACGTGG ACATCTTTGGGGACATTAT	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
PLCXD1_chrX_276381_308356	297080	A A	ACATGGGA others(90): Show ACATGGGATTAGGACGTGGACATCTTTGGGGCCATTATCCTGTCTACCTC TTGGGGATTAGGACGTGGACATCTTTGGGGACATTATTCTGTCTACCT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0154 a0001c0001t0013g0154	1	102	0.0098	97	c.734 others(114): Show c.734-2011_734-2010insATTAGGACGTGGACATCTTTGGGGCCAT TATCCTGTCTACCTCTTGGGGATTAGGACGTGGACATCTTTGGGGACATT ATTCTGTCTACCTCATGGG	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
PLCXD1_chrX_276381_308356	297276	A A	ACATGGGG others(90): Show ACATGGGGATTAGGACGTGGACATCTTTGGGGACATTATTCTGTCTCCCA CATGGGATTAGGACGTGGACATCTTTGGGGCCATTATCCTGTCTACCT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0074 a0001c0001t0020g0074	1	168	0.0060	97	c.734 others(114): Show c.734-1812_734-1811insTAGGACGTGGACATCTTTGGGGACATTA TTCTGTCTCCCACATGGGATTAGGACGTGGACATCTTTGGGGCCATTATC CTGTCTACCTCATGGGGAT	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
PLCXD1_chrX_276381_308356	297423	A A	ACATGGGA others(90): Show ACATGGGATTAGGACGTGGACATCTTTGGGGCCATTATCCTGTCTACCTC ATGGGGATTAGGACGTGGACATCTTTGGGGACATTATTCTGTCTACCT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0154 a0001c0001t0013g0154	1	167	0.0060	97	c.734 others(114): Show c.734-1668_734-1667insATTAGGACGTGGACATCTTTGGGGCCAT TATCCTGTCTACCTCATGGGGATTAGGACGTGGACATCTTTGGGGACATT ATTCTGTCTACCTCATGGG	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
PLCXD1_chrX_276381_308356	297619	A A	ACATGGGA others(90): Show ACATGGGATTAGGACGTGGACATCTTTGGGGCCATTATCCTGTCTACCTC ATGGGGATTAGGACGTGGACATCTTTGGGGACATTATTCTGTCTACCT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02615.hp1 HG02630.hp1 others(2): Show HG01891.hp1 HG02615.hp1 HG02630.hp1 HG02922.hp2 HG03195.hp2	a0001 a0005 a0001 a0005	a0001c0003 a0005c0015 a0001c0003 a0005c0015	a0001c0003t0006 a0001c0003t0053 a0005c0015t0006 a0001c0003t0006 a0001c0003t0053 a0005c0015t0006	a0001c0003t0006g0038 a0001c0003t0006g0039 a0001c0003t0006g0120 others(2): Show a0001c0003t0006g0038 a0001c0003t0006g0039 a0001c0003t0006g0120 a0001c0003t0053g0105 a0005c0015t0006g0078	5	152	0.0329	97	c.734 others(114): Show c.734-1472_734-1471insATTAGGACGTGGACATCTTTGGGGCCAT TATCCTGTCTACCTCATGGGGATTAGGACGTGGACATCTTTGGGGACATT ATTCTGTCTACCTCATGGG	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
PLCXD1_chrX_276381_308356	297815	A A	ACATGGGG others(90): Show ACATGGGGATTAGGACGTGGACATCTTTGGGGACATTATTCTGTCTCCCA CATGGGATTAGGACGTGGACATCTTTGGGGCCATTATCCTGTCTACCT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02280.hp1 HG02922.hp2 others(3): Show HG01891.hp1 HG02280.hp1 HG02922.hp2 HG03195.hp2 HG03486.hp2 NA18906.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0054 a0001c0003t0056 others(1): Show a0001c0003t0006 a0001c0003t0054 a0001c0003t0056 a0001c0003t0098	a0001c0003t0006g0038 a0001c0003t0006g0039 a0001c0003t0006g0120 others(3): Show a0001c0003t0006g0038 a0001c0003t0006g0039 a0001c0003t0006g0120 a0001c0003t0054g0085 a0001c0003t0056g0086 a0001c0003t0098g0087	6	173	0.0347	97	c.734 others(114): Show c.734-1237_734-1236insCCCACATGGGATTAGGACGTGGACATCT TTGGGGCCATTATCCTGTCTACCTCATGGGGATTAGGACGTGGACATCTT TGGGGACATTATTCTGTCT	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
PLCXD1_chrX_276381_308356	297854	T T	TCTGTCTC others(90): Show TCTGTCTCCCACATGGGATTAGGACGTGGACATCTTTGGGGCCATTATCC TGTCTACCTCATGGGGATTAGGACGTGGACATCTTTGGGGACATTATC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0005 a0005	a0005c0015 a0005c0015	a0005c0015t0006 a0005c0015t0006	a0005c0015t0006g0078 a0005c0015t0006g0078	1	157	0.0064	97	c.734 others(114): Show c.734-1237_734-1236insCCCACATGGGATTAGGACGTGGACATCT TTGGGGCCATTATCCTGTCTACCTCATGGGGATTAGGACGTGGACATCTT TGGGGACATTATCCTGTCT	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
PLCXD1_chrX_276381_308356	298109	A A	ACATGGGG others(90): Show ACATGGGGATTAGGACGTGGACATCTTTGGGGACATTATTCTGTCTCCCA CATGGGATTAGGACGTGGACATCTTTGGGGCCATTATCCTGTCTACCT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0055 a0001c0003t0055	a0001c0003t0055g0007 a0001c0003t0055g0007	1	166	0.0060	97	c.734 others(112): Show c.734-943_734-942insCCCACATGGGATTAGGACGTGGACATCTTT GGGGCCATTATCCTGTCTACCTCATGGGGATTAGGACGTGGACATCTTTG GGGACATTATTCTGTCT	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
PLD5_chr1_242077986_242529697	242394756	G G	GTATATAT others(90): Show GTATATATGTATACATTATATGAATATATATGATTATATATGAATATATA TGATTATATATGATTATATATGAATATATAAATATATATGAATATATA	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	1	144	0.0069	97	c.190 others(116): Show c.190-46515_190-46514insTATATATTCATATATATTTATATATT CATATATAATCATATATAATCATATATATTCATATATAATCATATATATT CATATAATGTATACATATATA	PLD5	ENSG00000180287.17	transcript	ENST00000536534.7	protein_coding	1/9			chr1	TogoVar
PLD5_chr1_242077986_242529697	242394766	G G	GAATATAT others(90): Show GAATATATATGTATATATGTATACATTATATGAATATATATGATTATATA TGATTATATATGATTATATATGATTATATATGAATATATAAATATATA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0068 a0001c0002t0068	a0001c0002t0068g0149 a0001c0002t0068g0149	1	106	0.0094	97	c.190 others(116): Show c.190-46525_190-46524insTATATATTTATATATTCATATATAAT CATATATAATCATATATAATCATATATAATCATATATATTCATATAATGT ATACATATATACATATATATT	PLD5	ENSG00000180287.17	transcript	ENST00000536534.7	protein_coding	1/9			chr1	TogoVar
PLD5_chr1_242077986_242529697	242394778	G G	GTATATAT others(90): Show GTATATATGTATACATTATATGAATATATATGATTATATATGATTATATA TGATTATATATGATTATATATGAATATATAAATATATATGAATATATA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01243.hp2 HG02559.hp2 others(2): Show HG00423.hp2 HG01243.hp2 HG02559.hp2 HG02922.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0005 a0001c0001t0021 others(2): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0021 a0001c0002t0003 a0001c0002t0011	a0001c0001t0002g0104 a0001c0001t0005g0024 a0001c0001t0021g0116 others(2): Show a0001c0001t0002g0104 a0001c0001t0005g0024 a0001c0001t0021g0116 a0001c0002t0003g0138 a0001c0002t0011g0142	5	170	0.0294	97	c.190 others(116): Show c.190-46537_190-46536insTATATATTCATATATATTTATATATT CATATATAATCATATATAATCATATATAATCATATATAATCATATATATT CATATAATGTATACATATATA	PLD5	ENSG00000180287.17	transcript	ENST00000536534.7	protein_coding	1/9			chr1	TogoVar
PLD5_chr1_242077986_242529697	242394778	G G	GTATATAT others(90): Show GTATATATGTATACATTATATGAATATATATGATTATGTATGATTATATA TGATTATATATGATTATATATGAATATATAAATATATATGAATATATA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0120 a0001c0001t0050g0120	1	166	0.0060	97	c.190 others(116): Show c.190-46537_190-46536insTATATATTCATATATATTTATATATT CATATATAATCATATATAATCATATATAATCATACATAATCATATATATT CATATAATGTATACATATATA	PLD5	ENSG00000180287.17	transcript	ENST00000536534.7	protein_coding	1/9			chr1	TogoVar
PLD5_chr1_242077986_242529697	242444692	T T	TATATTAT others(90): Show TATATTATATAATTATATATTATATATGTAATTATATTATATAATTATAT ATTATATATGTAATTATATTTTATTATATATTATAATAATTATATATA	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0082 a0001c0001t0004g0082	1	16	0.0625	97	c.189 others(116): Show c.189+79395_189+79396insTATATATAATTATTATAATATATAAT AAAATATAATTACATATATAATATATAATTATATAATATAATTACATATA TAATATATAATTATATAATAT	PLD5	ENSG00000180287.17	transcript	ENST00000536534.7	protein_coding	1/9			chr1	TogoVar
PLEKHN1_chr1_961482_980865	977719	C C	CCACTCCC others(90): Show CCACTCCCCGCGCAACCCCGGGAACCACCTCCCACTCCCCCCACCAACCC CGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0021 a0021	a0021c0038 a0021c0038	a0021c0038t0001 a0021c0038t0001	a0021c0038t0001g0001 a0021c0038t0001g0001	1	388	0.0026	97	c.31 others(108): Show c.3144_*3145insCACTCCCCGCGCAACCCCGGGAACCACCTCCCAC TCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGG GAACCGCCTCCCA	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1855		chr1	TogoVar
PLEKHN1_chr1_961482_980865	977719	C C	CCACTCCC others(90): Show CCACTCCCCGCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCC CGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	388	0.0026	97	c.31 others(108): Show c.3144_*3145insCACTCCCCGCGCAACCCCGGGAACCGCCTCCCAC TCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGG GAACCGCCTCCCA	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1855		chr1	TogoVar
PLXDC2_chr10_19811432_20294856	19966393	T T	TAAAATAT others(90): Show TAAAATATATATGTGCACATATATAAAAAATATATATGTGCACATATATA AAATATATATGTGCACATATATAAAAAATATATATGTGCACATATATA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00642.hp2 HG00673.hp1 others(69): Show HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG01109.hp1 HG01123.hp2 HG01192.hp1 HG01192.hp2 HG01516.hp2 HG01975.hp2 HG02080.hp2 HG02109.hp2 HG02129.hp1 HG02145.hp1 HG02145.hp2 HG02280.hp1 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp2 HG02886.hp1 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03654.hp1 HG03669.hp2 HG03704.hp2 HG03831.hp2 HG04204.hp1 HG06807.hp2 NA18906.hp1 NA18945.hp1 NA18954.hp2 NA18959.hp2 NA18961.hp2 NA18964.hp2 NA18978.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19084.hp1 NA19088.hp1 NA19090.hp1 NA19091.hp1 NA20129.hp1 NA20129.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(59): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0022 a0001c0001t0025 a0001c0001t0030 a0001c0001t0031 a0001c0001t0033 a0001c0001t0036 a0001c0001t0038 a0001c0001t0039 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0054 a0001c0001t0055 a0001c0001t0059 a0001c0001t0067 a0001c0001t0070 a0001c0001t0071 a0001c0001t0074 a0001c0001t0075 a0001c0001t0086 a0001c0001t0088 a0001c0001t0089 a0001c0001t0096 a0001c0001t0100 a0001c0001t0109 a0001c0001t0116 a0001c0001t0121 a0001c0001t0123 a0001c0001t0127 a0001c0001t0130 a0002c0002t0001 a0002c0002t0004 a0002c0002t0006 a0002c0002t0007 a0002c0002t0019 a0002c0002t0023 a0002c0002t0026 a0002c0002t0032 a0002c0002t0044 a0002c0002t0053 a0002c0002t0063 a0002c0002t0092 a0002c0002t0099 a0002c0002t0113 a0003c0003t0008 a0003c0003t0009 a0003c0003t0024 a0003c0003t0043 a0003c0003t0073 a0003c0003t0080 a0003c0003t0081 a0003c0003t0082 a0003c0003t0103 a0003c0003t0124 a0004c0004t0078	a0001c0001t0001g0133 a0001c0001t0001g0150 a0001c0001t0003g0161 others(69): Show a0001c0001t0001g0133 a0001c0001t0001g0150 a0001c0001t0003g0161 a0001c0001t0004g0140 a0001c0001t0010g0131 a0001c0001t0011g0143 a0001c0001t0011g0144 a0001c0001t0012g0027 a0001c0001t0012g0176 a0001c0001t0013g0088 a0001c0001t0013g0089 a0001c0001t0022g0117 a0001c0001t0025g0025 a0001c0001t0025g0067 a0001c0001t0030g0001 a0001c0001t0031g0003 a0001c0001t0033g0127 a0001c0001t0036g0164 a0001c0001t0038g0151 a0001c0001t0039g0057 a0001c0001t0045g0061 a0001c0001t0046g0008 a0001c0001t0047g0124 a0001c0001t0054g0135 a0001c0001t0055g0023 a0001c0001t0059g0148 a0001c0001t0067g0032 a0001c0001t0070g0005 a0001c0001t0071g0074 a0001c0001t0074g0110 a0001c0001t0075g0138 a0001c0001t0086g0097 a0001c0001t0088g0141 a0001c0001t0089g0099 a0001c0001t0096g0082 a0001c0001t0100g0109 a0001c0001t0109g0049 a0001c0001t0116g0052 a0001c0001t0121g0068 a0001c0001t0123g0046 a0001c0001t0127g0169 a0001c0001t0130g0154 a0002c0002t0001g0076 a0002c0002t0004g0111 a0002c0002t0006g0012 a0002c0002t0006g0075 a0002c0002t0006g0149 a0002c0002t0007g0037 a0002c0002t0019g0102 a0002c0002t0019g0108 a0002c0002t0023g0056 a0002c0002t0026g0136 a0002c0002t0026g0157 a0002c0002t0032g0004 a0002c0002t0044g0006 a0002c0002t0053g0137 a0002c0002t0063g0163 a0002c0002t0092g0078 a0002c0002t0099g0177 a0002c0002t0113g0045 a0003c0003t0008g0018 a0003c0003t0009g0115 a0003c0003t0009g0180 a0003c0003t0024g0047 a0003c0003t0043g0024 a0003c0003t0073g0031 a0003c0003t0080g0093 a0003c0003t0081g0092 a0003c0003t0082g0145 a0003c0003t0103g0087 a0003c0003t0124g0059 a0004c0004t0078g0126	72	98	0.7347	97	c.113 others(116): Show c.113-35333_113-35332insAAATATATATGTGCACATATATAAAA AATATATATGTGCACATATATAAAAATATATATGTGCACATATATAAAAA ATATATATGTGCACATATATA	PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
PLXDC2_chr10_19811432_20294856	19966393	T T	TAAAATAT others(90): Show TAAAATATATATGTGCACATATATAAAAAATATATATGTGCACATATATA AAATATATATGTGCACATATATAAAAAATATATATGTGCACGTATATA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0126 a0002c0002t0126	a0002c0002t0126g0155 a0002c0002t0126g0155	1	27	0.0370	97	c.113 others(116): Show c.113-35333_113-35332insAAATATATATGTGCACATATATAAAA AATATATATGTGCACGTATATAAAAATATATATGTGCACATATATAAAAA ATATATATGTGCACATATATA	PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
PLXDC2_chr10_19811432_20294856	19966430	G G	GTGCACAT others(90): Show GTGCACATATATAAAATATATATGTGCACATATATAAAAAATATATATGT GCACATATATAAAAATATATATGTGCACATATATAAAAAATATATATA	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18973.hp2 NA18982.hp1 NA18954.hp1 NA18973.hp2 NA18982.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0005 a0002c0002 a0003c0003 a0001c0005 a0002c0002 a0003c0003	a0001c0005t0056 a0002c0002t0002 a0003c0003t0107 a0001c0005t0056 a0002c0002t0002 a0003c0003t0107	a0001c0005t0056g0022 a0002c0002t0002g0175 a0003c0003t0107g0039 a0001c0005t0056g0022 a0002c0002t0002g0175 a0003c0003t0107g0039	3	178	0.0169	97	c.113 others(116): Show c.113-35333_113-35332insAAATATATATGTGCACATATATAAAA AATATATATGTGCACATATATAAAAATATATATGTGCACATATATAAAAA ATATATATATGCACATATATA	PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr10	TogoVar

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