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
NRCAM_chr7_108142649_108461436	108163992	G G	GGGGTAGT others(175): Show GGGGTAGTGAGAGGTCATACCGGGTGGGGTGGGGTAGTGAGAGGTCATAC CGGGTGGGGTGGCGGTAATGAGAGGTCATACCAGGTGGGGTGGGGTAGTG AGAGGTCATACCGGGTGGGGTGGGGTAATGAGAGGTCATACCGGGTGGGG GTGGCGGTAATGAGAGGTCATACCGGGTGGGGT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	208	0.0048	182	c.346 others(201): Show c.3466+2928_3466+2929insACCCCACCCGGTATGACCTCTCATTA CCGCCACCCCCACCCGGTATGACCTCTCATTACCCCACCCCACCCGGTAT GACCTCTCACTACCCCACCCCACCTGGTATGACCTCTCATTACCGCCACC CCACCCGGTATGACCTCTCACTACCCCACCCCACCCGGTATGACCTCTCA CTACCC	NRCAM	ENSG00000091129.22	transcript	ENST00000379028.8	protein_coding	30/32			chr7	TogoVar
NRCAM_chr7_108142649_108461436	108299114	A A	AAAAAAAA others(175): Show AAAAAAAAAAAAAGGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAAGAAAGGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0103 a0001c0003t0004g0103	1	208	0.0048	182	c.-10 others(203): Show c.-107+13550_-107+13551insCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCCTTTCTTTCCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCCTTTT TTTTTTTT	NRCAM	ENSG00000091129.22	transcript	ENST00000379028.8	protein_coding	3/32			chr7	TogoVar
NRROS_chr3_196634694_196667004	196634750	T T	TAGAGAAG others(175): Show TAGAGAAGTGGAGGCTGGAGAAGTGGGGACTGGGAGAAGTGGGGGCTAGA GAAGTGGAGGCTGGAGAAGTGGGGACTGGGAGAAGTGGGGGCTGAAGAAG TGGAGGCTGGAGAAGTGGGGACTGGGAGAAGTGGGGGCTAGAGAAGTGGA GGCTGGAGAAGTGGAGGCTGGAGAAGTGGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0002 a0001c0010t0002	a0001c0010t0002g0096 a0001c0010t0002g0096	1	472	0.0021	182	c.-51 others(193): Show c.-5139_-5138insAGAGAAGTGGAGGCTGGAGAAGTGGGGACTGGGA GAAGTGGGGGCTAGAGAAGTGGAGGCTGGAGAAGTGGGGACTGGGAGAAG TGGGGGCTGAAGAAGTGGAGGCTGGAGAAGTGGGGACTGGGAGAAGTGGG GGCTAGAGAAGTGGAGGCTGGAGAAGTGGAGGCTGGAGAAGTGGGGGC	NRROS	ENSG00000174004.6	transcript	ENST00000328557.5	protein_coding		4943		chr3	TogoVar
NT5C1A_chr1_39646229_39677107	39664487	T T	TCCCCTCC others(175): Show TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA19063.hp2 NA18939.hp1 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0092 a0001c0001t0030 a0001c0001t0092	a0001c0001t0030g0124 a0001c0001t0092g0099 a0001c0001t0030g0124 a0001c0001t0092g0099	2	326	0.0061	182	c.433 others(199): Show c.433+1033_433+1034insGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NUP133_chr1_229435259_229513341	229453222	A A	AAGCTTAA others(175): Show AAGCTTAACTGCTGCTGCCAGCTTCACAAATTTCCATTTTTTTAAAAATA ATGGTCATTAAGCTAGACTAATTTATATTGAAATGGGGATAGCCAAAACT GCAGACCTCAGTCTGTGGTGCATATCAAGCAATTCCACTTCTTGTAATGT CACGACTTTCCTAGGCTTCTTGGGAGCATGTCT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01516.hp1 HG02040.hp2 others(18): Show HG01243.hp1 HG01516.hp1 HG02040.hp2 HG02280.hp1 HG02622.hp2 HG02630.hp1 HG02717.hp1 HG02717.hp2 HG02965.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03579.hp1 NA19240.hp1 NA20129.hp2 NA21309.hp2	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0003c0003 a0006c0008 a0001c0001 a0003c0003 a0006c0008	a0001c0001t0004 a0003c0003t0004 a0003c0003t0007 others(2): Show a0001c0001t0004 a0003c0003t0004 a0003c0003t0007 a0003c0003t0013 a0006c0008t0004	a0001c0001t0004g0149 a0003c0003t0004g0108 a0003c0003t0004g0110 others(18): Show a0001c0001t0004g0149 a0003c0003t0004g0108 a0003c0003t0004g0110 a0003c0003t0004g0111 a0003c0003t0004g0112 a0003c0003t0004g0113 a0003c0003t0004g0114 a0003c0003t0004g0117 a0003c0003t0004g0120 a0003c0003t0004g0121 a0003c0003t0004g0122 a0003c0003t0004g0123 a0003c0003t0004g0134 a0003c0003t0004g0135 a0003c0003t0007g0265 a0003c0003t0007g0266 a0003c0003t0007g0267 a0003c0003t0007g0268 a0003c0003t0013g0269 a0006c0008t0004g0019 a0006c0008t0004g0022	21	276	0.0761	182	c.298 others(199): Show c.2981-580_2981-579insAGACATGCTCCCAAGAAGCCTAGGAAAG TCGTGACATTACAAGAAGTGGAATTGCTTGATATGCACCACAGACTGAGG TCTGCAGTTTTGGCTATCCCCATTTCAATATAAATTAGTCTAGCTTAATG ACCATTATTTTTAAAAAAATGGAAATTTGTGAAGCTGGCAGCAGCAGTTA AGCT	NUP133	ENSG00000069248.12	transcript	ENST00000261396.6	protein_coding	21/25			chr1	TogoVar
NXPH1_chr7_8428609_8757961	8623671	A A	AAAAAGTT others(175): Show AAAAAGTTCTTATTTTTTTTTTTTTCTTTCTCTGCCCCTATCTTTTTTCC AGGGTCAAGAGCCAACTTCTAGCATGGCTTATTAGGACAATGTTTTACTG TCAAGAAGTGCAGTGGTCACTCAGTACTGCTATCTCTAGGAGTATTTTCT TTTTTTTTTTTTTATTATACTCTAAGTTTTAGG	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0173 a0001c0001t0003g0173	1	208	0.0048	182	c.55- others(201): Show c.55-127321_55-127320insTTTTTTTTCTTTCTCTGCCCCTATCT TTTTTCCAGGGTCAAGAGCCAACTTCTAGCATGGCTTATTAGGACAATGT TTTACTGTCAAGAAGTGCAGTGGTCACTCAGTACTGCTATCTCTAGGAGT ATTTTCTTTTTTTTTTTTTTATTATACTCTAAGTTTTAGGAAAAGTTCTT ATTTTT	NXPH1	ENSG00000122584.13	transcript	ENST00000405863.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
OLA1_chr2_174067447_174253532	174164348	A A	AATACCAT others(175): Show AATACCATTCTGCATAGTGCAGAATGGATACCATTCTGCATAGTGCAGAA TGGATACCATTCTGCATAGTGCAGAATGGATACCATTCTGCATAGTGCAG AATGGATACCATTCTGCATAGTGCAGAATGGATACCATTCTGCATAGTGC AGAATGGATACCATTCTGCATAGTGCAGAATGG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02886.hp1 HG03710.hp1 HG02257.hp1 HG02886.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0009 a0001c0001t0012 a0001c0004t0019 a0001c0001t0009 a0001c0001t0012 a0001c0004t0019	a0001c0001t0009g0021 a0001c0001t0012g0052 a0001c0004t0019g0209 a0001c0001t0009g0021 a0001c0001t0012g0052 a0001c0004t0019g0209	3	262	0.0115	182	c.374 others(201): Show c.374-22349_374-22348insCCATTCTGCACTATGCAGAATGGTAT CCATTCTGCACTATGCAGAATGGTATCCATTCTGCACTATGCAGAATGGT ATCCATTCTGCACTATGCAGAATGGTATCCATTCTGCACTATGCAGAATG GTATCCATTCTGCACTATGCAGAATGGTATCCATTCTGCACTATGCAGAA TGGTAT	OLA1	ENSG00000138430.16	transcript	ENST00000284719.8	protein_coding	4/10			chr2	TogoVar
OR11H4_chr14_20234286_20249349	20238437	C C	CATTATAT others(175): Show CATTATATATATTTATTATAAATATATATTATATATATTTATTATAAATA TATATTATATATATTTATTATAAATATATATTATATATATTTATTATAAA TATATATTATATATATTTATAATAAATATATATTATATAGATTTATAATA AATATATATTATATATATTTATTATAAATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp1 NA19030.hp1 HG03516.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	2	439	0.0046	182	c.-90 others(191): Show c.-906_-905insATTATATATATTTATTATAAATATATATTATATATA TTTATTATAAATATATATTATATATATTTATTATAAATATATATTATATA TATTTATTATAAATATATATTATATATATTTATAATAAATATATATTATA TAGATTTATAATAAATATATATTATATATATTTATTATAAATATAT	OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding		848		chr14	TogoVar
OR2AJ1_chr1_247919889_247940339	247937455	C C	CCTCCTCC others(175): Show CCTCCTCCCCTCCCATCAGCAGCTCAGGGATGGGGCTGGCTCTGGGGCCT CCTCTTCCATCAACCCCTCAGCTACGGGGCTGGTTCAGGGGACTCCTCCC CTCCCATCAGCAGCTCAGGGATGGGGCTGGCTCTGGGGCCTCCTCTTCCA TCAACCCCTCAGCTACGGGGCTGGTTCAGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00639.hp2 others(15): Show HG00099.hp1 HG00280.hp2 HG00639.hp2 HG00735.hp2 HG01069.hp2 HG01123.hp2 HG01515.hp2 HG02273.hp1 HG02559.hp1 HG02735.hp1 HG02965.hp2 HG03017.hp2 HG03834.hp2 NA18963.hp2 NA18966.hp1 NA18988.hp2 NA19064.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0011 others(6): Show a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0057 a0001c0001t0001g0073 a0001c0001t0001g0085 a0001c0001t0002g0001 a0001c0001t0002g0003	18	432	0.0417	182	c.27 others(193): Show c.2700_*2701insCTCCTCCCCTCCCATCAGCAGCTCAGGGATGGGG CTGGCTCTGGGGCCTCCTCTTCCATCAACCCCTCAGCTACGGGGCTGGTT CAGGGGACTCCTCCCCTCCCATCAGCAGCTCAGGGATGGGGCTGGCTCTG GGGCCTCCTCTTCCATCAACCCCTCAGCTACGGGGCTGGTTCAGGGGA	OR2AJ1	ENSG00000177275.4	transcript	ENST00000318244.4	protein_coding		2117		chr1	TogoVar
OR2S2_chr9_35952108_35963154	35952899	T T	TTCTTTCC others(175): Show TTCTTTCCTTGTCTCTCCCTCTCCTCCTCTTTCCTTGTCTCTCCCTCTCC TCCTCTTTCCTTGTCTCTCCCTCTCCTCCTCTTTCCTTGTCTCTCCCTCT CCTCCTCTTTCCTTGTCTCTCCCTCTCCTCCTCTTTCCTTGTCTCTCCCT CTCCTCCTCTTTCCTTGTCTCTCCCTCTCCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp2 NA18965.hp2 NA18989.hp1 HG02523.hp2 NA18965.hp2 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	3	448	0.0067	182	c.42 others(193): Show c.4239_*4240insGGAGGAGAGGGAGAGACAAGGAAAGAGGAGGAGA GGGAGAGACAAGGAAAGAGGAGGAGAGGGAGAGACAAGGAAAGAGGAGGA GAGGGAGAGACAAGGAAAGAGGAGGAGAGGGAGAGACAAGGAAAGAGGAG GAGAGGGAGAGACAAGGAAAGAGGAGGAGAGGGAGAGACAAGGAAAGA	OR2S2	ENSG00000278889.4	transcript	ENST00000341959.2	protein_coding		4208		chr9	TogoVar
OR4K2_chr14_19870142_19888932	19872713	T T	TTATATAT others(175): Show TTATATATATATACACATATATATACCTATTTATATATATATACACATAT ATATACCTATTTATATATATATACACATATATATACCTATTTATATATAT ATACACATATATATACCTATTTATATATATATACACATATATATACCTAT TTATATATATATACACATATATATACCTATTTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG03471.hp1 HG02258.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0044 a0001c0001t0043 a0001c0001t0044	a0001c0001t0043g0002 a0001c0001t0044g0002 a0001c0001t0043g0002 a0001c0001t0044g0002	2	254	0.0079	182	c.-34 others(193): Show c.-3445_-3444insTATATATATATACACATATATATACCTATTTATA TATATATACACATATATATACCTATTTATATATATATACACATATATATA CCTATTTATATATATATACACATATATATACCTATTTATATATATATACA CATATATATACCTATTTATATATATATACACATATATATACCTATTTA	OR4K2	ENSG00000165762.3	transcript	ENST00000641885.1	protein_coding		2428		chr14	TogoVar
OR6J1_chr14_22625929_22649352	22637460	C C	CGCCTCTG others(175): Show CGCCTCTGCCCGGCCGCCCTCTCCCCTACTGGGAAGTGAGGAGCCCCTCT GCCCGGCCAGCCGCCCCGTCCGGGAGGGGGGAGGGGGGGTCAGCCCCCTG CCCGGCCAGCCGCCCCGTCCGGAGGGAGGTGGTGGGGGTCAGCCCCCCGC CCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGT	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0163 a0002c0002t0002g0163	1	362	0.0028	182	c.-27 others(199): Show c.-27-2623_-27-2622insACCCCTCACCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCGGACGGGGCGGCTGG CCGGGCAGGGGGCTGACCCCCCCTCCCCCCTCCCGGACGGGGCGGCTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGAGAGGGCGGCCGGGCAG AGGC	OR6J1	ENSG00000255804.2	transcript	ENST00000540461.2	protein_coding	1/1			chr14	TogoVar
OR6J1_chr14_22625929_22649352	22637535	A A	AGGGGTGG others(175): Show AGGGGTGGGGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGA GGTGGTGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGT GAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCT GCCCGGCCAGCCGCCCCGTCCGGGAGGGGGGAG	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0038 a0002c0002t0002g0038	1	362	0.0028	182	c.-27 others(199): Show c.-27-2698_-27-2697insCTCCCCCCTCCCGGACGGGGCGGCTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCAC CCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCA CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCA CCCC	OR6J1	ENSG00000255804.2	transcript	ENST00000540461.2	protein_coding	1/1			chr14	TogoVar
OSBPL10_chr3_31655825_31986262	31857789	G G	GGAGAGAC others(175): Show GGAGAGACAAGGAGGTGGGGGAGAGGGGGGGAGAGACGAGGAGGTGGGGG AGAGGGGGGAGGGGGGGAGAGGGAGGAAGGGGTTAGGGGAAGAGGGAGAG GAGAGAGAGGGAGTAAAGGGGAGGGAGGGGGGGAGAGAGAGACGGGGGGA GAGAGAGGGAGAAAAGGAGAGGGGGGAGAGAGA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	186	0.0054	182	c.537 others(201): Show c.537+18643_537+18644insTCTCTCTCCCCCCTCTCCTTTTCTCC CTCTCTCTCCCCCCGTCTCTCTCTCCCCCCCTCCCTCCCCTTTACTCCCT CTCTCTCCTCTCCCTCTTCCCCTAACCCCTTCCTCCCTCTCCCCCCCTCC CCCCTCTCCCCCACCTCCTCGTCTCTCCCCCCCTCTCCCCCACCTCCTTG TCTCTC	OSBPL10	ENSG00000144645.16	transcript	ENST00000396556.7	protein_coding	3/11			chr3	TogoVar
OSBPL10_chr3_31655825_31986262	31857789	G G	GGAGAGAC others(175): Show GGAGAGACAAGGAGGTGGGGGGAGAGGGGGGGAGAGACGAGGAGGTGGGG GAGGGGGGGGGAGGGGGGGGAGAGGGAGGAAGGGGTTAGGGGAAGAGGGA GAGGAGAGAGAGGGAGTAAAGGGGAGGGGGGGGAGAGAGAGACGGGGGGA GAGAGAGGGAGAAAAGGAGAGGGGGGAGAGAGA	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0004 a0003c0011t0004	a0003c0011t0004g0003 a0003c0011t0004g0003	1	186	0.0054	182	c.537 others(201): Show c.537+18643_537+18644insTCTCTCTCCCCCCTCTCCTTTTCTCC CTCTCTCTCCCCCCGTCTCTCTCTCCCCCCCCTCCCCTTTACTCCCTCTC TCTCCTCTCCCTCTTCCCCTAACCCCTTCCTCCCTCTCCCCCCCCTCCCC CCCCCTCCCCCACCTCCTCGTCTCTCCCCCCCTCTCCCCCCACCTCCTTG TCTCTC	OSBPL10	ENSG00000144645.16	transcript	ENST00000396556.7	protein_coding	3/11			chr3	TogoVar
PABIR2_chrX_134764566_134802205	134788466	G G	GTGTAATA others(175): Show GTGTAATATATACACGTTATATATGTGTAATATATACACGTTATATATGT GTAATATATACACGTTATATATGTGTAATATATACACGTTATATATGTGT AATATATACACGTTATATATGTGTAATATATACACGTTATATATGTTATA TATGTTATATATGTGTTATATATACGTTATATA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	217	0.0046	182	c.435 others(197): Show c.435+263_435+264insTATATAACGTATATATAACACATATATAAC ATATATAACATATATAACGTGTATATATTACACATATATAACGTGTATAT ATTACACATATATAACGTGTATATATTACACATATATAACGTGTATATAT TACACATATATAACGTGTATATATTACACATATATAACGTGTATATATTA CA	PABIR2	ENSG00000156504.17	transcript	ENST00000343004.10	protein_coding	6/9			chrX	TogoVar
PACRG_chr6_162722974_163320500	163291263	A A	ACCCTCTG others(175): Show ACCCTCTGCCCGCCAGAGCTGGCCTGCGGGTCACCCTGCAAGATGACCCC TCTGCCCGCCAGAGCTGGCCTGCGGGTCACCCTGCAAGATGTCCCCTCTG CCCGCCAGAGCTGGCCTGCGGGTCACCCTGCAAGATGACCCTCTGCCCGC CAGAGCTGGCCTGCGGGTCACCCTGCAAGATGT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03139.hp2 HG03486.hp1 others(1): Show HG02109.hp2 HG03139.hp2 HG03486.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0003t0003	a0001c0001t0001g0033 a0001c0001t0002g0086 a0001c0001t0003g0015 others(1): Show a0001c0001t0001g0033 a0001c0001t0002g0086 a0001c0001t0003g0015 a0001c0003t0003g0065	4	130	0.0308	182	c.614 others(201): Show c.614-23561_614-23560insTCTGCCCGCCAGAGCTGGCCTGCGGG TCACCCTGCAAGATGACCCCTCTGCCCGCCAGAGCTGGCCTGCGGGTCAC CCTGCAAGATGTCCCCTCTGCCCGCCAGAGCTGGCCTGCGGGTCACCCTG CAAGATGACCCTCTGCCCGCCAGAGCTGGCCTGCGGGTCACCCTGCAAGA TGTCCC	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	163291263	A A	ACCCTCTG others(175): Show ACCCTCTGCCCGCCAGAGCTGGCCTGCGGGTCACCCTGCAAGATGTCCCC TCTGCCCGCCAGAGCTGGCCTGCGGGTCACCCTGCAAGATGTCCCCTCTG CCCGCCAGAGCTGGCCTGCGGGTCACCCTGCAAGATGACCCTCTGCCCGC CAGAGCTGGCCTGCGGGTCACCCTGCAAGATGT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	130	0.0077	182	c.614 others(201): Show c.614-23561_614-23560insTCTGCCCGCCAGAGCTGGCCTGCGGG TCACCCTGCAAGATGTCCCCTCTGCCCGCCAGAGCTGGCCTGCGGGTCAC CCTGCAAGATGTCCCCTCTGCCCGCCAGAGCTGGCCTGCGGGTCACCCTG CAAGATGACCCTCTGCCCGCCAGAGCTGGCCTGCGGGTCACCCTGCAAGA TGTCCC	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PAH_chr12_102831889_102922244	102867863	A A	ATATAGAT others(175): Show ATATAGATGTATATATACATGTATATATACATCTATAGATGTATATATAC ATGTATATACATCTATAGATGTATATATACATGTATATACATCTATAGAT GTATATATACATGTATATACATCTATAGATGTATATATACATGTATATAC ATCTATAGATGTATATATACATGTATATACATC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0013 a0001c0009t0013	a0001c0009t0013g0240 a0001c0009t0013g0240	1	312	0.0032	182	c.442 others(199): Show c.442-1201_442-1200insGATGTATATACATGTATATATACATCTA TAGATGTATATACATGTATATATACATCTATAGATGTATATACATGTATA TATACATCTATAGATGTATATACATGTATATATACATCTATAGATGTATA TACATGTATATATACATCTATAGATGTATATATACATGTATATATACATC TATA	PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding	4/12			chr12	TogoVar
PAK1_chr11_77317017_77479094	77332351	A A	AGGGAAGG others(175): Show AGGGAAGGGAAGGGGAGGGGAGGGGAGGGGAGGGGGGAGGGGGGAGGGGA GGGGAGGGGGAGGGGGGAGGGGAGGGGGAGGGGGGAGGGGAGGGGGAGGG GGAGGGGAGGGGGAGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGG GAGGGGAGGGGAAGGAAGGGAAGGGAAGGGAAG	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0224 a0001c0001t0002g0224	1	302	0.0033	182	c.155 others(199): Show c.1551+378_1551+379insCTTCCCTTCCCTTCCCTTCCTTCCCCTC CCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCTCCCCCTCC CCTCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCC TCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTTCCCT TCCC	PAK1	ENSG00000149269.10	transcript	ENST00000356341.8	protein_coding	14/14			chr11	TogoVar
PAK4_chr19_39120786_39184404	39153303	G G	GGCTGAAG others(175): Show GGCTGAAGTGCAGTGGCACAATCTCAGCTTACTGCAACCTCCACCTTCTG GGTTCAAGCAATTCTCGTACCTCAGCCTTCCGAGTAGCTGGAATCACAGG CATGTGCCACCACACCCGGCTAATTTTTGTGTTTTGTTGTTGTTGTTTTA TTTTTTTGAAACAGAGTCCCACTCCATCACCCA	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	368	0.0027	182	c.-95 others(201): Show c.-95-14850_-95-14849insTCCGAGTAGCTGGAATCACAGGCATG TGCCACCACACCCGGCTAATTTTTGTGTTTTGTTGTTGTTGTTTTATTTT TTTGAAACAGAGTCCCACTCCATCACCCAGCTGAAGTGCAGTGGCACAAT CTCAGCTTACTGCAACCTCCACCTTCTGGGTTCAAGCAATTCTCGTACCT CAGCCT	PAK4	ENSG00000130669.17	transcript	ENST00000360442.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
PAM16_chr16_4335251_4356321	4344385	T T	TCTGTGTG others(175): Show TCTGTGTGAGAAGAGGGGGTTCTGTGAGAGGAGGGGGTTCTGTGAGAGGA GGGGGTTCTGTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGACTGTGTG AGAGGAGGGGGTTCTCTGAGAGGAGGGGACTGTGTGAGAGGAGGGGGTTC TGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGA	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0080 a0002c0002t0001g0080	1	367	0.0027	182	c.4-1 others(195): Show c.4-1095_4-1094insTCCCCTCCTCTCACAGAACCCCCTCCTCTCAC AGAACCCCCTCCTCTCACACAGTCCCCTCCTCTCAGAGAACCCCCTCCTC TCACACAGTCCCCTCCTCTCACAGAACCCCCTCCTCTCACACAGAACCCC CTCCTCTCACAGAACCCCCTCCTCTCACAGAACCCCCTCTTCTCACACAG	PAM16	ENSG00000217930.8	transcript	ENST00000318059.8	protein_coding	1/4			chr16	TogoVar
PATL1_chr11_59631716_59674037	59632595	A A	ATATATAT others(175): Show ATATATATATCTATATATATATATCTATATATATCTATATATATATCTAT ATATATATCTATATATATATATCTATATATATATCTATATATATATCTAT ATATATCTATATATATATCTATATATATCTATATATATCTATATATATAT CTATATATATCTATATATATATCTATATATATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0169 a0001c0001t0004g0169	1	276	0.0036	182	c.57 others(193): Show c.5794_*5795insGATATATATAGATATATATATAGATATATATAGA TATATATATAGATATATATAGATATATATAGATATATATATAGATATATA TAGATATATATATAGATATATATATAGATATATATATATAGATATATATA TAGATATATATATAGATATATATAGATATATATATATAGATATATATA	PATL1	ENSG00000166889.14	transcript	ENST00000300146.10	protein_coding		4120		chr11	TogoVar
PCDH15_chr10_53797771_54806231	54725550	A A	ATAATTAT others(175): Show ATAATTATATATATATATATAATTATATATATAATATAATATATATATTA TTATATATATATATTATATATATATAATATATATATATATATTATATTAT ATATATATATTATATATATATATTATATATATATATATTATATATATATA TAATATAATATATATATATTATTATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0013 a0013	a0013c0014 a0013c0014	a0013c0014t0001 a0013c0014t0001	a0013c0014t0001g0012 a0013c0014t0001g0012	1	102	0.0098	182	c.-28 others(201): Show c.-28-61261_-28-61260insATATATATATAATAATATATATATAT TATATTATATATATATATAATATATATATATATAATATATATATATAATA TATATATATAATATAATATATATATATATATTATATATATATAATATATA TATATAATAATATATATATTATATTATATATATAATTATATATATATATA TAATTA	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	1/37			chr10	TogoVar
PCDH15_chr10_53816099_54806231	54725550	A A	ATAATTAT others(175): Show ATAATTATATATATATATATAATTATATATATAATATAATATATATATTA TTATATATATATATTATATATATATAATATATATATATATATTATATTAT ATATATATATTATATATATATATTATATATATATATATTATATATATATA TAATATAATATATATATATTATTATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0008 a0008	a0008c0016 a0008c0016	a0008c0016t0001 a0008c0016t0001	a0008c0016t0001g0012 a0008c0016t0001g0012	1	94	0.0106	182	c.-28 others(201): Show c.-28-61261_-28-61260insATATATATATAATAATATATATATAT TATATTATATATATATATAATATATATATATATAATATATATATATAATA TATATATATAATATAATATATATATATATATTATATATATATAATATATA TATATAATAATATATATATTATATTATATATATAATTATATATATATATA TAATTA	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	1/32			chr10	TogoVar
PDIA6_chr2_10778391_10817785	10806628	C C	CAAAGAAA others(175): Show CAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAA AGAAAAGAAAAAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0184 a0002c0002t0001g0184	1	342	0.0029	182	c.20- others(197): Show c.20-3989_20-3988insTTCTTTCTTTCTTTCTTTCTTTTTTTCTTT TCTTTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TT	PDIA6	ENSG00000143870.13	transcript	ENST00000272227.8	protein_coding	1/12			chr2	TogoVar
PDXK_chr21_43714129_43767299	43741268	G G	GGGGGGGG others(175): Show GGGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTCGCGGGG GGCTCGCGGGGGGCTCGCGGGGGGGGCTCGCGGGGGGCTGGCGGGGGGCT CGCGGGGGGCTCGCGGGGGGCGCGGGGGGGGCTCGCGGGGGGGGCTCGCG GGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGC	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0138 a0001c0002t0003g0138	1	358	0.0028	182	c.143 others(197): Show c.143-393_143-392insGCTCGCGGGGGGCTGGCGGGGGGCTCGCGG GGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGGCTCGCGGGGGG CTGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCGCGGGGGGGGCTCGCG GGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGG GG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741350	G G	GGGGGGGG others(175): Show GGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGG GGGGCTCGCAGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGC TGGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGC GGGGGGCTCGCGGGGGGCTCGCGGGGGGCTGGC	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0026 a0001c0001t0005g0026	1	358	0.0028	182	c.143 others(197): Show c.143-311_143-310insGCTCGCGGGGGGCTCGCGGGGGGGCTCGCG GGGGGGCTCGCGGGGGGCTCGCAGGGGGGCTCGCGGGGGGCTCGCGGGGG GCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTC GCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTGGCGGGG GG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PERM1_chr1_970198_987093	976943	C C	CCCCGGGA others(175): Show CCCCGGGAACCGCCTCCCGCTCCCCGCGCAACCCCGGGAACCGCCTGCCC CCACCGACCAACCCCGGGAACCGCCTGCCCCCACCGACCAACCCCGGGAA CCGCCTCCCACGACCCCCAATCCCGGGAACCGCCTCCCCACCACCCCGCC AACCCCGAGAAACCGCCTCCCACGACCCCCAAT	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0241 a0002c0002t0002g0241	1	408	0.0025	182	c.215 others(199): Show c.2150-320_2150-319insATTGGGGGTCGTGGGAGGCGGTTTCTCG GGGTTGGCGGGGTGGTGGGGAGGCGGTTCCCGGGATTGGGGGTCGTGGGA GGCGGTTCCCGGGGTTGGTCGGTGGGGGCAGGCGGTTCCCGGGGTTGGTC GGTGGGGGCAGGCGGTTCCCGGGGTTGCGCGGGGAGCGGGAGGCGGTTCC CGGG	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PGAM5_chr12_132705842_132727734	132718452	G G	GGTCCTGG others(175): Show GGTCCTGGGTGGGGGGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCC TGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGG GTGGGGGGTCCTGGGTGGGGGGTCCTGGGTGGGGTGCGTGCTGGGTGGGG GTGTCCTGGGTGGGGTGCATGCTGGGTGGGGGT	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0066 a0001c0001t0006g0066	1	394	0.0025	182	c.719 others(197): Show c.719+345_719+346insGGTCCTGGGTGGGGTGCGTGCTGGGTGGGG GTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCG TGCTGGGTGGGGGGTCCTGGGTGGGGGGTCCTGGGTGGGGTGCGTGCTGG GTGGGGGTGTCCTGGGTGGGGTGCATGCTGGGTGGGGGTGTCCTGGGTGG GG	PGAM5	ENSG00000247077.8	transcript	ENST00000498926.7	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
PIM1_chr6_37165152_37180428	37179403	A A	ATATATAT others(175): Show ATATATATTATATATAATATATATTATATATATTATATATTATATATTAT ATATTATATATATTATATATAATATATATTATATATATTATATATTATAT ATTATATATAATATATAATATATATAATATATATTATATATTATATATTA TATATTATATATAATATATAATATATATTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	414	0.0024	182	c.53 others(193): Show c.5312_*5313insTATATATTATATATAATATATATTATATATATTA TATATTATATATTATATATTATATATATTATATATAATATATATTATATA TATTATATATTATATATTATATATAATATATAATATATATAATATATATT ATATATTATATATTATATATTATATATAATATATAATATATATTATAT	PIM1	ENSG00000137193.14	transcript	ENST00000373509.6	protein_coding		3976		chr6	TogoVar
PJA2_chr5_109329722_109414974	109340619	C C	CCTCTCCC others(175): Show CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01258.hp1 HG01346.hp1 others(6): Show HG00738.hp1 HG01258.hp1 HG01346.hp1 HG01884.hp2 HG02602.hp2 HG02698.hp1 HG03130.hp2 HG04199.hp1 NA20805.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0004 a0001c0001t0005 a0003c0003t0002 others(1): Show a0001c0001t0004 a0001c0001t0005 a0003c0003t0002 a0003c0003t0020	a0001c0001t0004g0272 a0001c0001t0005g0033 a0003c0003t0002g0052 others(6): Show a0001c0001t0004g0272 a0001c0001t0005g0033 a0003c0003t0002g0052 a0003c0003t0002g0066 a0003c0003t0002g0105 a0003c0003t0002g0120 a0003c0003t0002g0121 a0003c0003t0002g0122 a0003c0003t0020g0064	9	346	0.0260	182	c.200 others(201): Show c.2002-3264_2002-3263insAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAG	PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	9/9			chr5	TogoVar
PKHD1_chr6_51610299_52092613	51981304	G G	GCTCCCCC others(175): Show GCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCTCTCC CTCTCCGGTACAGAGCCCTTTTAGAGAGGCTCCAAAGCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0004 a0004	a0004c0064 a0004c0064	a0004c0064t0003 a0004c0064t0003	a0004c0064t0003g0053 a0004c0064t0003g0053	1	134	0.0075	182	c.575 others(203): Show c.5752-21279_5752-21278insGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGCTTTGGAGCCTCTCTAAAAGGGCTCTGT ACCGGAGAGGGAGAGGGGGAGGGGGAGGGGGAGGGGGGAGGGGGAGGGGG AGGGGGAG	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66			chr6	TogoVar
PLCH1_chr3_155474881_155750071	155667902	T T	TAAAAAAA others(175): Show TAAAAAAAAAAAAAAAAAAAAAAAAATACAAAAATTAGCCAGGAGTGGTG GCGTGTGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGATAATTGC TTGAACCCAGGAGGCAGAGCTTGCAATGAGCCAAGTTTGCACCACTGCAC TCCAGCCTGGGTGACAGAGCAAGACTCCATCTC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0182 a0001c0003t0001g0182	1	264	0.0038	182	c.79+ others(199): Show c.79+36243_79+36244insGAGATGGAGTCTTGCTCTGTCACCCAGG CTGGAGTGCAGTGGTGCAAACTTGGCTCATTGCAAGCTCTGCCTCCTGGG TTCAAGCAATTATCCTGCCTTAGCCTCCTGAGTAGCTGGGATTACAGGCA CACGCCACCACTCCTGGCTAATTTTTGTATTTTTTTTTTTTTTTTTTTTT TTTT	PLCH1	ENSG00000114805.18	transcript	ENST00000460012.7	protein_coding	2/22			chr3	TogoVar
PLCXD1_chrX_276381_308356	280315	A A	AGGGAGGC others(175): Show AGGGAGGCCGTGCAGGCAGAGGGGAAGACGTGCAGGGGGAGGGGAGGCCG TGCAGGAGGAGGGGAGGCCGTGCAGGGGGCAGCGGAGGCCGTGCAGGGGG AAGGGAGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGCGGAGGGGGGTAC GTGCAGGGGGCAGCGGAGGCCGTGCAGGGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0069 a0001c0001t0034g0069	1	176	0.0057	182	c.-13 others(193): Show c.-1391_-1390insGGGAGGCCGTGCAGGCAGAGGGGAAGACGTGCAG GGGGAGGGGAGGCCGTGCAGGAGGAGGGGAGGCCGTGCAGGGGGCAGCGG AGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGGGGAAGGGAGGCCGTGCA GGCGGAGGGGGGTACGTGCAGGGGGCAGCGGAGGCCGTGCAGGGGGAG	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding		1065		chrX	TogoVar
PLCXD1_chrX_276381_308356	280638	C C	CGGAGGCC others(175): Show CGGAGGCCGTGCAGGGGGAGGGGAGGCCGTTGCAGGGGGAAGGGGGGCCC GTGCAGGGGGAAGGGAGGCGTGCAGGGGGAAGGGAGGCCGTGCAGGCAGA GGGGAAGACGTGCAGGGGGAGGGGAGGCCGTGCAGGCGGAGGGGGGTACG TGCAGGGGGCAGCGGAGGCCGTGCAGGGGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0078 a0001c0001t0033g0078	1	176	0.0057	182	c.-10 others(193): Show c.-1068_-1067insGGAGGCCGTGCAGGGGGAGGGGAGGCCGTTGCAG GGGGAAGGGGGGCCCGTGCAGGGGGAAGGGAGGCGTGCAGGGGGAAGGGA GGCCGTGCAGGCAGAGGGGAAGACGTGCAGGGGGAGGGGAGGCCGTGCAG GCGGAGGGGGGTACGTGCAGGGGGCAGCGGAGGCCGTGCAGGGGGAAG	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding		742		chrX	TogoVar
PLCXD1_chrX_276381_308356	280844	C C	CCGTGCAG others(175): Show CCGTGCAGGCGGAGGGGGGGTACGTGCAGGGGGCAGCGGAGGCCGTGCAG GGGGAAGGGAGGCCGTGCAGGCAGAGGGGAAGACGTGCAGGGGGAAGGGA GGCCGTGCAGGAGGAGGGGAGGCCGTGCAGGGGGAAGGGAGGCCGTGCAG GGGGAAGGGAGGCCGTGCAGGCAGAGGGGAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0061 a0001c0001t0061	a0001c0001t0061g0033 a0001c0001t0061g0033	1	176	0.0057	182	c.-86 others(191): Show c.-862_-861insCGTGCAGGCGGAGGGGGGGTACGTGCAGGGGGCAGC GGAGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGCAGAGGGGAAGACGTG CAGGGGGAAGGGAGGCCGTGCAGGAGGAGGGGAGGCCGTGCAGGGGGAAG GGAGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGCAGAGGGGAAGA	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding		536		chrX	TogoVar
PLEKHG4B_chr5_87168_194966	164466	T T	TTGTGACG others(175): Show TTGTGACGGAGCAGAGCTCACACTAATGCTCTGACAGGGGGCGGAGCTCA CACAGTAATGCTCTGACAGGGGGCGGAGCTCACACAGTAATGCTCTGACG GGGCGGAGCTCACACAGTAATGCTCTGACGGGGCGGAGCTCACACAGTAA TGCTGTGACAGGGAGCGGAGCTCACAGTAATGC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02165.hp2 NA18995.hp1 HG00438.hp1 HG02165.hp2 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0030 a0001c0001t0093 a0001c0001t0006 a0001c0001t0030 a0001c0001t0093	a0001c0001t0006g0075 a0001c0001t0030g0027 a0001c0001t0093g0105 a0001c0001t0006g0075 a0001c0001t0030g0027 a0001c0001t0093g0105	3	210	0.0143	182	c.347 others(199): Show c.3476+979_3476+980insCTGACAGGGGGCGGAGCTCACACAGTAA TGCTCTGACGGGGCGGAGCTCACACAGTAATGCTCTGACGGGGCGGAGCT CACACAGTAATGCTGTGACAGGGAGCGGAGCTCACAGTAATGCTGTGACG GAGCAGAGCTCACACTAATGCTCTGACAGGGGGCGGAGCTCACACAGTAA TGCT	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHN1_chr1_961482_980865	976943	C C	CCCCGGGA others(175): Show CCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCC GCTCCCCGCGCAACCCCGGGAACCGCCTGCCCCCACCGACCAACCCCGGG AACCGCCTCCCACGACCCCCAATCCCGGGAACCGCCTCCCACCACCCCGC CAACCCCGAGAACCGCCTCCCACGACCCCCAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0002 a0002	a0002c0017 a0002c0017	a0002c0017t0045 a0002c0017t0045	a0002c0017t0045g0085 a0002c0017t0045g0085	1	422	0.0024	182	c.23 others(193): Show c.2368_*2369insCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCC CGGGAACCGCCTCCCGCTCCCCGCGCAACCCCGGGAACCGCCTGCCCCCA CCGACCAACCCCGGGAACCGCCTCCCACGACCCCCAATCCCGGGAACCGC CTCCCACCACCCCGCCAACCCCGAGAACCGCCTCCCACGACCCCCAAT	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1079		chr1	TogoVar
PLEKHN1_chr1_961482_980865	976943	C C	CCCCGGGA others(175): Show CCCCGGGAACCGCCTCCCGCTCCCCGCGCAACCCCGGGAACCGCCTGCCC CCACCGACCAACCCCGGGAACCGCCTGCCCCCACCGACCAACCCCGGGAA CCGCCTCCCACGACCCCCAATCCCGGGAACCGCCTCCCCACCACCCCGCC AACCCCGAGAAACCGCCTCCCACGACCCCCAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0003 a0002c0002t0002g0003	1	422	0.0024	182	c.23 others(193): Show c.2368_*2369insCCCGGGAACCGCCTCCCGCTCCCCGCGCAACCCC GGGAACCGCCTGCCCCCACCGACCAACCCCGGGAACCGCCTGCCCCCACC GACCAACCCCGGGAACCGCCTCCCACGACCCCCAATCCCGGGAACCGCCT CCCCACCACCCCGCCAACCCCGAGAAACCGCCTCCCACGACCCCCAAT	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1079		chr1	TogoVar
POTEC_chr18_14502339_14548600	14543632	T T	TGCGGGGC others(175): Show TGCGGGGCGCGCGTGCGGGGCGCGCGTGCGGGGCGCGCGTGCGGGGCGCG CGTGCGGGGCGCGCGTGCGGGGCGCGCGTGCGGGGCGCGCGTGCGGGGCG CGCGTGCGGGGCGCGCGTGCGGGGCGCGCGTGCGGGGCGCGCGTGCGGGG CGCGCGTGCGGGGCGCGCGTGCGGGGCGCGCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19009.hp2 NA20905.hp2 NA19009.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0035 a0001c0001t0009 a0001c0001t0035	a0001c0001t0009g0055 a0001c0001t0035g0071 a0001c0001t0009g0055 a0001c0001t0035g0071	2	388	0.0052	182	c.-48 others(191): Show c.-487_-486insGCGCGCGCCCCGCACGCGCGCCCCGCACGCGCGCCC CGCACGCGCGCCCCGCACGCGCGCCCCGCACGCGCGCCCCGCACGCGCGC CCCGCACGCGCGCCCCGCACGCGCGCCCCGCACGCGCGCCCCGCACGCGC GCCCCGCACGCGCGCCCCGCACGCGCGCCCCGCACGCGCGCCCCGC	POTEC	ENSG00000183206.18	transcript	ENST00000358970.10	protein_coding		33		chr18	TogoVar
PYM1_chr12_55896413_55932894	55905863	A A	ATATATAT others(175): Show ATATATATATCTATTAGATATATATATTATATATTAGATATATATATATC TATTAGATATATATATTATTATATATATCTATTAGATATATATATTATTA TATATATCTATTAGATATATATTATTATATATATCTATTAGATATATATA TTATTATATATATCTAATAGATATATATATTAT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0049 a0001c0001t0002g0049	1	344	0.0029	182	c.38- others(197): Show c.38-2384_38-2383insATAATATATATATCTATTAGATATATATAA TAATATATATATCTAATAGATATATATAATAATATATATCTAATAGATAT ATATAATAATATATATATCTAATAGATATATATAATAATATATATATCTA ATAGATATATATATATCTAATATATAATATATATATCTAATAGATATATA TA	PYM1	ENSG00000170473.17	transcript	ENST00000408946.7	protein_coding	1/2			chr12	TogoVar
RAB11FIP3_chr16_420649_528011	492425	C C	CCCCGGAG others(175): Show CCCCGGAGACCCGAGGCCGCCCAGAGCCCTCCCCGGGAGATCCGAGGCCG CCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCCGGGAG ATCCGAGGCCGCCCAGAGCCCTCCCCGGGAGACCCGAGGCCGCCCAGAGC CCTCCCGGGAGACCCGAGGCCGCCCAGAGCCCT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0243 a0001c0001t0006g0243	1	295	0.0034	182	c.126 others(201): Show c.1265+3430_1265+3431insAGACCCGAGGCCGCCCAGAGCCCTCC CCGGGAGATCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCGAGGCCGCC CAGAGCCCTCCCCGGGAGATCCGAGGCCGCCCAGAGCCCTCCCCGGGAGA CCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGAGCCC TCCCGG	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBM19_chr12_113817057_113971325	113837246	T T	TACACACA others(175): Show TACACACACACACACACACACACACACACACACACACGTGTGCTACTGCC CAGGCTTATAACCCATCCTCCTAATACACACACACACACACACACACACA CACACACACACACACACACTCTCACGTGCTACTGCCCAGGCTTATAACCC ATCCTCCTAATACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0314 a0001c0001t0003g0314	1	356	0.0028	182	c.278 others(201): Show c.2785+7421_2785+7422insGTGTGTGTGTGTGTGTGTGTGTATTA GGAGGATGGGTTATAAGCCTGGGCAGTAGCACGTGAGAGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATTAGGAGGATGGGTTAT AAGCCTGGGCAGTAGCACACGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGT	RBM19	ENSG00000122965.11	transcript	ENST00000261741.10	protein_coding	23/23			chr12	TogoVar
RCOR1_chr14_102587649_102735561	102676493	A A	AGGGCGGC others(175): Show AGGGCGGCTGGCCGACCCCCCCCCCCCCCCCCCCCCCCCCGCCTCCCTCC CGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGC GGGGGGCTGATCCCCCCACCTCCCTCCCGGACG	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0282 a0001c0001t0016g0282	1	292	0.0034	182	c.362 others(199): Show c.362-5379_362-5378insCCCCCCCCCCCCCCCCGCCTCCCTCCCG GACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGG GGGGCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGACCCCC CCCC	RCOR1	ENSG00000089902.10	transcript	ENST00000262241.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
RFX3_chr9_3213297_3531001	3505388	T T	TAATATAA others(175): Show TAATATAAAATAAAATACTTTATATTTATATAAAATATAAAATAAAATAC TTTATTTTATATAAATATAAAATAAAATACTTTATTTTATATAAATATAA AATAAAATACTTTATTTTATATAAATATAAAATAAAATACTTTATTTTAT ATAAATATAAAATAAAATACTTTATTTTATATA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0055 a0001c0001t0003g0055	1	196	0.0051	182	c.-9+ others(199): Show c.-9+20358_-9+20359insTATATAAAATAAAGTATTTTATTTTATA TTTATATAAAATAAAGTATTTTATTTTATATTTATATAAAATAAAGTATT TTATTTTATATTTATATAAAATAAAGTATTTTATTTTATATTTATATAAA ATAAAGTATTTTATTTTATATTTTATATAAATATAAAGTATTTTATTTTA TATT	RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	1/16			chr9	TogoVar
RORA_chr15_60483284_61234302	60816075	A A	AGTATTTA others(175): Show AGTATTTATATACTGTAAACAGTATATGTATTTATATACTGTAAACAGTA TATGTATTTATATACTGTAAACAGTATATGTATTTATATACTGTAAACAG TATATGTATTTATATACTGTAAACAGTATATGTATTTATATACTGTAAAC AGTATATGTATTTATATACTGTAAACAGTATAT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03834.hp2 HG03669.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0006 a0001c0004t0041 a0001c0001t0006 a0001c0004t0041	a0001c0001t0006g0056 a0001c0004t0041g0063 a0001c0001t0006g0056 a0001c0004t0041g0063	2	118	0.0170	182	c.167 others(203): Show c.167-137390_167-137389insATATACTGTTTACAGTATATAAAT ACATATACTGTTTACAGTATATAAATACATATACTGTTTACAGTATATAA ATACATATACTGTTTACAGTATATAAATACATATACTGTTTACAGTATAT AAATACATATACTGTTTACAGTATATAAATACATATACTGTTTACAGTAT ATAAATAC	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	1/10			chr15	TogoVar
RORA_chr15_60483284_61234302	60816082	G G	GTATACTG others(175): Show GTATACTGTAAACAGTATATGTATTTATATACTGTAAACAGTATATGTAT TTATATACTGTAAACAGTATATGTATTTATATACTGTAAACAGTATATGT ATTTATATACTGTAAACAGTATATGTATTTATATACTGTAAACAGTATAT GTATTTATATACTGTAAACAGTATATGTATTTA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01168.hp1 HG01169.hp1 others(4): Show HG00639.hp2 HG01168.hp1 HG01169.hp1 HG01358.hp2 HG03654.hp1 HG04115.hp2 NA19003.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0009 a0001c0001 a0001c0003 a0002c0009	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(3): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0001t0050 a0001c0003t0014 a0002c0009t0007	a0001c0001t0001g0053 a0001c0001t0006g0111 a0001c0001t0007g0057 others(4): Show a0001c0001t0001g0053 a0001c0001t0006g0111 a0001c0001t0007g0057 a0001c0001t0007g0113 a0001c0001t0050g0062 a0001c0003t0014g0114 a0002c0009t0007g0118	7	118	0.0593	182	c.167 others(203): Show c.167-137578_167-137397dupTAAATACATATACTGTTTACAGTA TATAAATACATATACTGTTTACAGTATATAAATACATATACTGTTTACAG TATATAAATACATATACTGTTTACAGTATATAAATACATATACTGTTTAC AGTATATAAATACATATACTGTTTACAGTATATAAATACATATACTGTTT ACAGTATA	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	1/10			chr15	TogoVar
RP2_chrX_46832043_46887358	46847788	A A	ATATATGT others(175): Show ATATATGTGTGTGTGTATATACACACATGTGTGTGTATATACACACATAT GTGTGTGTGTATATACACATGTGTGTGTATATACACACATATATGTGTGT GTGTATATACACACATATGTGTGTGTGTGTATATACACACATATGTGTGT GTGTATATATACACACATATATGTGTATATGTG	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0027 a0001c0001t0005g0027	1	274	0.0037	182	c.103 others(199): Show c.103-5687_103-5686insATATGTGTGTGTGTATATACACACATGT GTGTGTATATACACACATATGTGTGTGTGTATATACACATGTGTGTGTAT ATACACACATATATGTGTGTGTGTATATACACACATATGTGTGTGTGTGT ATATACACACATATGTGTGTGTGTATATATACACACATATATGTGTATAT GTGT	RP2	ENSG00000102218.6	transcript	ENST00000218340.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
RPA2_chr1_27886524_27919575	27917028	T T	CCCTTCCT others(175): Show CCCTTCCTCCTTCCCTCCCTCCTTCCTTCCTTCTCCCCCCCTCCCCTTCC TTCCTCCTTCCTCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTTCCTTCC TTCCTTCCTCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCC CTCCCTCCTTCCTTCCTCCCTCCCTCCCTCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0009 a0001c0001t0003g0009	1	364	0.0028	182	c.-25 others(193): Show c.-2585_-2584insAGGAGGGAGGGAGGGAGGAAGGAAGGAGGGAGGG AGGGAGGAAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGAGGAAGGAAGG AAGGAAGGAAGGGAGGGAGGGAGGGAGGAAGGAAGGAGGAAGGAGGAAGG AAGGGGAGGGGGGGAGAAGGAAGGAAGGAGGGAGGGAAGGAGGAAGGG	RPA2	ENSG00000117748.10	transcript	ENST00000373912.8	protein_coding		2453		chr1	TogoVar

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