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
NKAIN3_chr8_62243854_62989904	62792529	G G	GGATATAA others(223): Show GGATATAAGTTGTGTCTGGTGCTTTCAGTTTCAAAGTAATGGGGTTTGTT TTTAGTTTCCAGGCTTATTTCTCACCACATGTCAGTGGCGGAGAATGATG GATATGATGTAGCTGCATGATGACTGCCTTTCAATTTTGAGTTTTTGAGT TGTTTGAGATCTTTCTCTGATGTTCTACGTGGCCTTGGGTCAGTTAAGAG CACACACATAATGATTGCTTGCTCATGCCAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00323.hp1 others(105): Show HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01192.hp2 HG01243.hp2 HG01346.hp1 HG01361.hp1 HG01361.hp2 HG01515.hp2 HG01517.hp1 HG01952.hp1 HG01952.hp2 HG02004.hp1 HG02109.hp1 HG02109.hp2 HG02135.hp2 HG02145.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03704.hp1 HG03704.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04228.hp1 HG04228.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp2 NA18948.hp1 NA18948.hp2 NA18966.hp1 NA18968.hp1 NA18968.hp2 NA18982.hp1 NA18982.hp2 NA18986.hp2 NA19003.hp2 NA19004.hp2 NA19043.hp1 NA19043.hp2 NA19062.hp1 NA19064.hp1 NA19068.hp1 NA19090.hp1 NA19240.hp1 NA20300.hp1 NA20300.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0002 a0002c0003 others(4): Show a0001c0001 a0001c0002 a0002c0003 a0002c0004 a0003c0005 a0004c0007 a0005c0008	a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 others(86): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0016 a0001c0001t0020 a0001c0001t0027 a0001c0001t0029 a0001c0001t0031 a0001c0001t0040 a0001c0001t0042 a0001c0001t0043 a0001c0001t0049 a0001c0001t0050 a0001c0001t0055 a0001c0001t0056 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071 a0001c0001t0074 a0001c0001t0082 a0001c0001t0088 a0001c0001t0091 a0001c0001t0096 a0001c0001t0102 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0021 a0001c0002t0023 a0001c0002t0024 a0001c0002t0030 a0001c0002t0032 a0001c0002t0035 a0001c0002t0036 a0001c0002t0044 a0001c0002t0045 a0001c0002t0046 a0001c0002t0052 a0001c0002t0054 a0001c0002t0057 a0001c0002t0058 a0001c0002t0059 a0001c0002t0060 a0001c0002t0061 a0001c0002t0066 a0001c0002t0073 a0001c0002t0075 a0001c0002t0077 a0001c0002t0079 a0001c0002t0085 a0001c0002t0087 a0001c0002t0094 a0002c0003t0001 a0002c0003t0002 a0002c0003t0005 a0002c0003t0008 a0002c0003t0010 a0002c0003t0011 a0002c0003t0015 a0002c0003t0019 a0002c0003t0026 a0002c0003t0033 a0002c0003t0034 a0002c0003t0037 a0002c0003t0039 a0002c0003t0047 a0002c0003t0051 a0002c0003t0053 a0002c0003t0062 a0002c0003t0064 a0002c0003t0072 a0002c0003t0081 a0002c0003t0083 a0002c0003t0084 a0002c0003t0092 a0002c0003t0098 a0002c0003t0101 a0002c0003t0103 a0002c0004t0009 a0003c0005t0095 a0004c0007t0019 a0005c0008t0007	a0001c0001t0003g0031 a0001c0001t0004g0042 a0001c0001t0004g0064 others(105): Show a0001c0001t0003g0031 a0001c0001t0004g0042 a0001c0001t0004g0064 a0001c0001t0009g0012 a0001c0001t0011g0016 a0001c0001t0012g0010 a0001c0001t0012g0011 a0001c0001t0014g0013 a0001c0001t0014g0060 a0001c0001t0016g0026 a0001c0001t0016g0027 a0001c0001t0020g0070 a0001c0001t0020g0142 a0001c0001t0027g0008 a0001c0001t0029g0053 a0001c0001t0031g0059 a0001c0001t0040g0051 a0001c0001t0042g0063 a0001c0001t0043g0009 a0001c0001t0049g0007 a0001c0001t0050g0062 a0001c0001t0055g0069 a0001c0001t0056g0054 a0001c0001t0068g0133 a0001c0001t0069g0075 a0001c0001t0070g0143 a0001c0001t0071g0074 a0001c0001t0074g0144 a0001c0001t0082g0078 a0001c0001t0088g0076 a0001c0001t0091g0080 a0001c0001t0096g0128 a0001c0001t0102g0141 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0095 a0001c0002t0001g0107 a0001c0002t0002g0103 a0001c0002t0002g0126 a0001c0002t0003g0015 a0001c0002t0003g0034 a0001c0002t0004g0068 a0001c0002t0005g0022 a0001c0002t0006g0093 a0001c0002t0006g0116 a0001c0002t0021g0086 a0001c0002t0023g0106 a0001c0002t0023g0114 a0001c0002t0024g0104 a0001c0002t0024g0113 a0001c0002t0030g0066 a0001c0002t0032g0037 a0001c0002t0035g0029 a0001c0002t0036g0045 a0001c0002t0044g0061 a0001c0002t0045g0020 a0001c0002t0046g0019 a0001c0002t0052g0055 a0001c0002t0054g0021 a0001c0002t0057g0030 a0001c0002t0058g0058 a0001c0002t0059g0023 a0001c0002t0060g0024 a0001c0002t0061g0006 a0001c0002t0066g0096 a0001c0002t0073g0118 a0001c0002t0075g0119 a0001c0002t0077g0109 a0001c0002t0079g0091 a0001c0002t0085g0137 a0001c0002t0087g0124 a0001c0002t0094g0079 a0002c0003t0001g0110 a0002c0003t0001g0117 a0002c0003t0001g0120 a0002c0003t0002g0101 a0002c0003t0002g0102 a0002c0003t0005g0035 a0002c0003t0005g0048 a0002c0003t0008g0112 a0002c0003t0008g0130 a0002c0003t0010g0038 a0002c0003t0010g0039 a0002c0003t0011g0043 a0002c0003t0015g0049 a0002c0003t0019g0131 a0002c0003t0026g0041 a0002c0003t0033g0028 a0002c0003t0034g0046 a0002c0003t0037g0014 a0002c0003t0039g0052 a0002c0003t0047g0032 a0002c0003t0051g0025 a0002c0003t0053g0033 a0002c0003t0062g0018 a0002c0003t0064g0115 a0002c0003t0072g0094 a0002c0003t0081g0123 a0002c0003t0083g0139 a0002c0003t0084g0108 a0002c0003t0092g0105 a0002c0003t0098g0136 a0002c0003t0101g0122 a0002c0003t0103g0077 a0002c0004t0009g0067 a0003c0005t0095g0081 a0004c0007t0019g0089 a0005c0008t0007g0090	108	144	0.7500	230	c.471 others(249): Show c.471+45400_471+45401insGATATAAGTTGTGTCTGGTGCTTTCA GTTTCAAAGTAATGGGGTTTGTTTTTAGTTTCCAGGCTTATTTCTCACCA CATGTCAGTGGCGGAGAATGATGGATATGATGTAGCTGCATGATGACTGC CTTTCAATTTTGAGTTTTTGAGTTGTTTGAGATCTTTCTCTGATGTTCTA CGTGGCCTTGGGTCAGTTAAGAGCACACACATAATGATTGCTTGCTCATG CCAA	NKAIN3	ENSG00000185942.13	transcript	ENST00000623646.3	protein_coding	4/6			chr8	TogoVar
NMRK2_chr19_3928069_3947416	3937871	T T	TCCCCCGG others(223): Show TCCCCCGGGGTCCACCCTCCTGCAATACCCGCTCCCCGTCCACTGTCCCC CCGGGGTCCACCCTCCTGCAATGCCCGCTCCCCCTCCACTGTCCCCCCGG GGTCTGCCCTCCTGCAATACCTGCTCCCCGTCCACTGTCCCCCCGGGGTC CACCCTCCTGCAATACCTGCTCCCCGTCCACTGTTCCCCCGGGGTCCGCC CTCCTGCAATACCCGCTCCCCGTCCACTGTC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01346.hp2 HG01433.hp1 others(11): Show HG00735.hp2 HG01346.hp2 HG01433.hp1 HG02145.hp2 HG02486.hp2 HG02572.hp2 HG02622.hp1 HG02647.hp2 HG02698.hp1 HG02723.hp1 HG02809.hp2 HG03669.hp2 NA18970.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0110 others(9): Show a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0135 a0001c0001t0001g0137	14	404	0.0347	230	c.166 others(245): Show c.166+608_166+609insACCCGCTCCCCGTCCACTGTCCCCCCGGGG TCCACCCTCCTGCAATGCCCGCTCCCCCTCCACTGTCCCCCCGGGGTCTG CCCTCCTGCAATACCTGCTCCCCGTCCACTGTCCCCCCGGGGTCCACCCT CCTGCAATACCTGCTCCCCGTCCACTGTTCCCCCGGGGTCCGCCCTCCTG CAATACCCGCTCCCCGTCCACTGTCCCCCCGGGGTCCACCCTCCTGCAAT	NMRK2	ENSG00000077009.14	transcript	ENST00000168977.7	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
NMRK2_chr19_3928069_3947416	3938138	G G	GTCCACTG others(223): Show GTCCACTGTTCCCCCGGGGTCCACCCTCCTGCAATACCCGCTCCCCGTCC ACTGTCCCCCCGGGGTCCACCCTCCTGCAATGCCCGCTCCCCCTCCACTG TCCCCCCGGGGTCTGCCCTCCTGCAATACCTGCTCCCCGTCCACTGTCCC CCCGGGGTCCACCCTCCTGCAATACCTGCTCCCCGTCCACTGTTCCCCTG GGGTCCGCCCTCCTGCAATACCTGCTCCCCA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01346.hp2 HG01433.hp1 others(11): Show HG00735.hp2 HG01346.hp2 HG01433.hp1 HG02145.hp2 HG02486.hp2 HG02572.hp2 HG02622.hp1 HG02647.hp2 HG02698.hp1 HG02723.hp1 HG02809.hp2 HG03669.hp2 NA18970.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0110 others(9): Show a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0135 a0001c0001t0001g0137	14	404	0.0347	230	c.167 others(245): Show c.167-457_167-456insTCCCCCGGGGTCCACCCTCCTGCAATACCC GCTCCCCGTCCACTGTCCCCCCGGGGTCCACCCTCCTGCAATGCCCGCTC CCCCTCCACTGTCCCCCCGGGGTCTGCCCTCCTGCAATACCTGCTCCCCG TCCACTGTCCCCCCGGGGTCCACCCTCCTGCAATACCTGCTCCCCGTCCA CTGTTCCCCTGGGGTCCGCCCTCCTGCAATACCTGCTCCCCATCCACTGT	NMRK2	ENSG00000077009.14	transcript	ENST00000168977.7	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
NPRL3_chr16_80386_143673	82196	C C	CACACTGA others(223): Show CACACTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAA TGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTATCTCCGGGAAGGCC TCCTGAATGCTCCCCACACTGACCCCTTCTTCCCACCACCCTACCTCCGG GAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTA TCTCCGGGAAGCCCTCCTGAATACTCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0263 a0001c0001t0002g0263	1	350	0.0029	230	c.45 others(241): Show c.4508_*4509insCGGGGGAGTATTCAGGAGGGCTTCCCGGAGATAG GGTGGTGGGAAGAAGGGGTCAGCGCGGGGAGCATTCAGGAGGCCTTCCCG GAGGTAGGGTGGTGGGAAGAAGGGGTCAGTGTGGGGAGCATTCAGGAGGC CTTCCCGGAGATAGGGTGGTGGGAAGAAGGGGTCAGCGCGGGGAGCATTC AGGAGGCCTTCCCGGAGGTAGGGTGGTGGGAAGAAGGGGTCAGTGT	NPRL3	ENSG00000103148.17	transcript	ENST00000611875.5	protein_coding		3189		chr16	TogoVar
NPRL3_chr16_80386_143673	82196	C C	CACGCTGG others(223): Show CACGCTGGCCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAA TGCTCCCCACACTGACCCCTTCTTCCCACCACCCTATCTCCGGGAAGCCC TCCTGAATGCTCCCCGCGCTGGCCCCTTCTTCCCACCACCCTACCTCCAG GAAGCCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTA TCTCCGGGAAGGCCTCCTGAATGCTCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG02698.hp2 HG00140.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0221 a0001c0001t0003g0219 a0001c0001t0002g0221 a0001c0001t0003g0219	2	350	0.0057	230	c.45 others(241): Show c.4508_*4509insCGGGGGAGCATTCAGGAGGCCTTCCCGGAGATAG GGTGGTGGGAAGAAGGGGTCAGCGCGGGGAGCATTCAGGAGGGCTTCCTG GAGGTAGGGTGGTGGGAAGAAGGGGCCAGCGCGGGGAGCATTCAGGAGGG CTTCCCGGAGATAGGGTGGTGGGAAGAAGGGGTCAGTGTGGGGAGCATTC AGGAGGCCTTCCCGGAGGTAGGGTGGTGGGAAGAAGGGGCCAGCGT	NPRL3	ENSG00000103148.17	transcript	ENST00000611875.5	protein_coding		3189		chr16	TogoVar
NPRL3_chr16_80386_143673	82225	T T	TCTCCGGG others(223): Show TCTCCGGGAAGCCCTCCTGAATACTCCCCCGGCGCTGACCCCTTCTTCCC ACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCT TCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCT GACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCC CCGCGCTGACCCCTTCTTCCCACCACCCTAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0002 a0004c0006t0002	a0004c0006t0002g0337 a0004c0006t0002g0337	1	350	0.0029	230	c.44 others(241): Show c.4479_*4480insGTAGGGTGGTGGGAAGAAGGGGTCAGCGCGGGGA GCATTCAGGAGGCCTTCCCGGAGGTAGGGTGGTGGGAAGAAGGGGTCAGC GCGGGGAGCATTCAGGAGGCCTTCCCGGAGGTAGGGTGGTGGGAAGAAGG GGTCAGCGCGGGGAGCATTCAGGAGGCCTTCCCGGAGGTAGGGTGGTGGG AAGAAGGGGTCAGCGCCGGGGGAGTATTCAGGAGGGCTTCCCGGAG	NPRL3	ENSG00000103148.17	transcript	ENST00000611875.5	protein_coding		3160		chr16	TogoVar
NPRL3_chr16_80386_143673	82247	G G	GCTCCCCA others(223): Show GCTCCCCACACTGACCCCTTCTTCCCACCACCCTATCTCCGGGAAGCCCT CCTGAATGCTCCCCGCGCTGGCCCCTTCTTCCCACCACCCTACCTCCAGG AAGCCCTCCTGAATGCTCCCCACGCTGACCCCTTCTTCCCACCACCCTAT CTCCGGGAAGGCCTCCTGAATGCTCCCCCGGCGCTGACCCCTTCTTCCCA CCACCCTACCTCCGGGAAGGCCTCCTGAATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp1 HG02738.hp1 HG03704.hp1 HG02698.hp1 HG02738.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0047 a0001c0001t0001g0119 a0001c0001t0002g0002 a0001c0001t0001g0047 a0001c0001t0001g0119 a0001c0001t0002g0002	3	350	0.0086	230	c.44 others(241): Show c.4457_*4458insTATTCAGGAGGCCTTCCCGGAGGTAGGGTGGTGG GAAGAAGGGGTCAGCGCCGGGGGAGCATTCAGGAGGCCTTCCCGGAGATA GGGTGGTGGGAAGAAGGGGTCAGCGTGGGGAGCATTCAGGAGGGCTTCCT GGAGGTAGGGTGGTGGGAAGAAGGGGCCAGCGCGGGGAGCATTCAGGAGG GCTTCCCGGAGATAGGGTGGTGGGAAGAAGGGGTCAGTGTGGGGAG	NPRL3	ENSG00000103148.17	transcript	ENST00000611875.5	protein_coding		3138		chr16	TogoVar
NT5C1A_chr1_39646229_39677107	39664492	T T	TCTCCTCC others(223): Show TCTCCTCCTCTCCTCTCCTCTCCTCTCCTCTCCCTCTCCTCTCCTCTCCT CTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCT CTCCCTCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCT CCCCTCCCCCTTCCCTCTCCCCTTCCCCTCC	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0115 a0001c0001t0012g0115	1	326	0.0031	230	c.433 others(247): Show c.433+1028_433+1029insGGAGGGGAAGGGGAGAGGGAAGGGGGAG GGGAGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGAGG GAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAG GAGAGGAGAGGAGAGGAGAGGGAGAGGAGAGGAGAGGAGAGGAGAGGAGG AG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NTM_chr11_131365615_132341822	132070647	A A	ATCACAGG others(223): Show ATCACAGGTTAGTTAACGTGTCACACAGCCAAGTTAACACGTCAAACTGA CGATCACAGGTTAGTTTACACGTCACACAGCCAAAACACGTCAAACTGAC CATCACAGGTTAGTTAACACGTCACACAGCCAAGTAAGTTAACACGTCAA ACTGACCGTCACAGGTTAGTTAACACGTCACACAGCCAAGTTAACACATC ACACAGCCAAGTTAACACGTCAAACTGACCG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03471.hp2 HG01243.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0002 a0001c0001t0004g0005 a0001c0001t0001g0002 a0001c0001t0004g0005	2	86	0.0233	230	c.168 others(249): Show c.168-75635_168-75634insTCACAGGTTAGTTAACGTGTCACACA GCCAAGTTAACACGTCAAACTGACGATCACAGGTTAGTTTACACGTCACA CAGCCAAAACACGTCAAACTGACCATCACAGGTTAGTTAACACGTCACAC AGCCAAGTAAGTTAACACGTCAAACTGACCGTCACAGGTTAGTTAACACG TCACACAGCCAAGTTAACACATCACACAGCCAAGTTAACACGTCAAACTG ACCG	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	2/8			chr11	TogoVar
NXN_chr17_794310_984776	841411	T T	TGACCACG others(223): Show TGACCACGGCGCATCTCACACCCGCGAGCAGGTCCTCCCGACCATGGAGC ATCTCACGCCGGCGAGCAGGTCCCCCCTGACCACGGAGCATCTCACACGG GCGAGCAGGTCCCCCCTGACCACGGAGCATCTCACACGGGCGAGCAGGTC CCCCCGACCACAGCGCATCTCATGCCGGCGAGCAGGTCCCCCCGACCACG GCGCATCTCACACCCACAGGCAGGTCCCCCC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01074.hp2 HG01099.hp2 others(5): Show HG00099.hp2 HG01074.hp2 HG01099.hp2 HG01257.hp1 HG01358.hp2 HG01433.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0013 a0001c0001t0001 a0001c0001t0005 a0001c0001t0013	a0001c0001t0001g0030 a0001c0001t0001g0062 a0001c0001t0001g0110 others(5): Show a0001c0001t0001g0030 a0001c0001t0001g0062 a0001c0001t0001g0110 a0001c0001t0001g0147 a0001c0001t0001g0160 a0001c0001t0001g0186 a0001c0001t0005g0108 a0001c0001t0013g0220	8	242	0.0331	230	c.361 others(249): Show c.361-15334_361-15333insGGGGGGACCTGCCTGTGGGTGTGAGA TGCGCCGTGGTCGGGGGGACCTGCTCGCCGGCATGAGATGCGCTGTGGTC GGGGGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCAGGGGGGACCTG CTCGCCCGTGTGAGATGCTCCGTGGTCAGGGGGGACCTGCTCGCCGGCGT GAGATGCTCCATGGTCGGGAGGACCTGCTCGCGGGTGTGAGATGCGCCGT GGTC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	841458	C C	CGCATCTC others(223): Show CGCATCTCACACCCGCGAGCAGGTCCCCCCTGACCACGGAGCATCTCACA CGGGCGAGCAGGTCCCCCCGACCACAGAGCATCTCACACGGGCGAGCAGG TCCACCCTGACCACGGCGCATCTCACACTGGCGAGCAGGTCCCCCCTGAC CACGGCGCATCTCACACCCGCGAGCAGGTCCTCCCGACCATGGAGCATCT CACGCCGGCGAGCAGGTCCCCCGACCACGGA	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0053 a0001c0001t0002g0053	1	242	0.0041	230	c.361 others(249): Show c.361-15381_361-15380insTCCGTGGTCGGGGGACCTGCTCGCCG GCGTGAGATGCTCCATGGTCGGGAGGACCTGCTCGCGGGTGTGAGATGCG CCGTGGTCAGGGGGGACCTGCTCGCCAGTGTGAGATGCGCCGTGGTCAGG GTGGACCTGCTCGCCCGTGTGAGATGCTCTGTGGTCGGGGGGACCTGCTC GCCCGTGTGAGATGCTCCGTGGTCAGGGGGGACCTGCTCGCGGGTGTGAG ATGC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	841688	G G	GGCGCATC others(223): Show GGCGCATCTCATGCCGGCGAGCAGGTCCCCCCGACCACGGCGCATCTCAC ACCCACGGGCAGGTCCCCCCGACCACGGCGCATCTCACACGGGCGAGCAG GTCCACCCTGACCACGGCGCATCTCACACGGGCGAGCAGGTCCCCCCGAC CACGGCGCATCTCACACCCACAGGCAGGCCCCCCCGACCACGGCGCATCT CACACGGGCGAGCAGGTCCACCCTGACCACA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0175 a0001c0001t0003g0175	1	242	0.0041	230	c.361 others(249): Show c.361-15611_361-15610insTGTGGTCAGGGTGGACCTGCTCGCCC GTGTGAGATGCGCCGTGGTCGGGGGGGCCTGCCTGTGGGTGTGAGATGCG CCGTGGTCGGGGGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGG TGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCCCG TGGGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCTCGCCGGCATGAGAT GCGC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OBI1_chr13_78609289_78664155	78659327	A A	AGAAAGAA others(223): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA AGAAAGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0010	1	296	0.0034	230	c.-20 others(239): Show c.-208_-207insCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCTTTCTTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	OBI1	ENSG00000152193.8	transcript	ENST00000282003.7	protein_coding		173		chr13	TogoVar
OLFM1_chr9_135082668_135126180	135124531	G G	GGAAGGAA others(223): Show GGAAGGAAGGGGAAGGGGAAGGGGAAGGGAAGGAAGGAAGGAAGGAAGAA AGAAAGAAAGAGAAACGAAGAAAAGAAAGAAGAAAGAAAGAAAGAAAAAG GAAAGAAAGAAAAAGGAAAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAGA AAGAAAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGGAAGGAAGGAAGGAAGGAAGGAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0017 a0001c0001t0004g0017	1	360	0.0028	230	c.43 others(241): Show c.4353_*4354insGAAGGAAGGGGAAGGGGAAGGGGAAGGGAAGGAA GGAAGGAAGGAAGAAAGAAAGAAAGAGAAACGAAGAAAAGAAAGAAGAAA GAAAGAAAGAAAAAGGAAAGAAAGAAAAAGGAAAGAAAGAAAGAAGAAAG AAAGAAAGAAAGAGAAAGAAAGAGAGAGAGAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGGAAGGAAGGAAGGAAGGAAGGAAA	OLFM1	ENSG00000130558.20	transcript	ENST00000371793.8	protein_coding		3352		chr9	TogoVar
OR4F17_chr19_102104_118156	107934	T T	TTATTATA others(223): Show TTATTATATAATATAATATATATTATATAATATATATATTATTATATAAT ATAATATATATTATATAATATATTTTATTATATAATATAATATATATTAT ATAATATAATATATTTTATTATATAATATATATTATATAATATAATATAT ATTAATATAAATATATATTATATTATATAATATAATATATATTATATAAT ATAATATATTTTATTATATAAATATATATTA	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0002 a0004c0003t0002	a0004c0003t0002g0055 a0004c0003t0002g0055	1	227	0.0044	230	c.-55 others(245): Show c.-55+402_-55+403insATATAATATATATATTATTATATAATATAA TATATATTATATAATATATTTTATTATATAATATAATATATATTATATAA TATAATATATTTTATTATATAATATATATTATATAATATAATATATATTA ATATAAATATATATTATATTATATAATATAATATATATTATATAATATAA TATATTTTATTATATAAATATATATTATATTATATAATATAATATATATT	OR4F17	ENSG00000176695.8	transcript	ENST00000585993.3	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr19	TogoVar
OR4F17_chr19_102104_118156	107943	A A	AATATAAT others(223): Show AATATAATATATATTATATAATATATATATTATTATATAATATAATATAT ATTATATAATATATTTTATTATATAATATAATATATATTATATAATATAA TATATTTTATTATATAAATATATATTATATTATATAATATAATATATATT ATATAATATAAATATATATTATATTATATAATATAATATATATTATATAA TATATTTTATTATATAAATATATATTATATT	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02165.hp1 HG02135.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	2	227	0.0088	230	c.-55 others(245): Show c.-55+402_-55+403insATATAATATATATATTATTATATAATATAA TATATATTATATAATATATTTTATTATATAATATAATATATATTATATAA TATAATATATTTTATTATATAAATATATATTATATTATATAATATAATAT ATATTATATAATATAAATATATATTATATTATATAATATAATATATATTA TATAATATATTTTATTATATAAATATATATTATATTATATAATATATATT	OR4F17	ENSG00000176695.8	transcript	ENST00000585993.3	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr19	TogoVar
OR4F17_chr19_102104_118156	107967	A A	ATATATTA others(223): Show ATATATTATTATATAATATAATATATATTATATAATATATTTTATTATAT AATATAATATATATTATATAATATAATATATTTTATTATATAATATATAT TATATTATATAATATAATATATATTAATATAAATATATATTATATAATAT AATATAATATATATTATATAATATAATATATTTTATTATATAAATATATA TTATATTATATAATATAATATATATTTTATT	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	227	0.0044	230	c.-55 others(245): Show c.-55+412_-55+413insTATATTATTATATAATATAATATATATTAT ATAATATATTTTATTATATAATATAATATATATTATATAATATAATATAT TTTATTATATAATATATATTATATTATATAATATAATATATATTAATATA AATATATATTATATAATATAATATAATATATATTATATAATATAATATAT TTTATTATATAAATATATATTATATTATATAATATAATATATATTTTATT	OR4F17	ENSG00000176695.8	transcript	ENST00000585993.3	protein_coding	2/2			chr19	TogoVar
OR4F17_chr19_102104_118156	107967	A A	ATATATTA others(223): Show ATATATTATTATATAATATAATATATATTATATAATATATTTTATTATAT AATATAATATATATTATATAATATAATATATTTTATTATATAATATATAT TATATTATATAATATAATATATATTAATATAAATATATATTATATTATAT AATATAATATATATTATATAATATAATATATTTTATTATATAAATATATA TTATATTATATAATATAATATATATTTTATT	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18973.hp2 NA19005.hp2 NA18943.hp2 NA18973.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0032 a0001c0001t0001g0021 a0001c0001t0001g0032	3	227	0.0132	230	c.-55 others(245): Show c.-55+412_-55+413insTATATTATTATATAATATAATATATATTAT ATAATATATTTTATTATATAATATAATATATATTATATAATATAATATAT TTTATTATATAATATATATTATATTATATAATATAATATATATTAATATA AATATATATTATATTATATAATATAATATATATTATATAATATAATATAT TTTATTATATAAATATATATTATATTATATAATATAATATATATTTTATT	OR4F17	ENSG00000176695.8	transcript	ENST00000585993.3	protein_coding	2/2			chr19	TogoVar
P2RY8_chrX_1457581_1542185	1468987	T T	TCCTTCCC others(223): Show TCCTTCCCTCTCCCCTCTCCCCTCCCCTTCCCTCTCCCCTCTCCCCTCCC CTTCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCTCCCCTTCCCTCTCCC CTCTCCCCTCCCCTTCCCTCTCCCCTCTCCCCTCCCCTTCCCTCTCCCCT CTCCCCTCCCCTTCCCTCTCCCCTCTCCCCTCCCCTTCCCTCTCCCCTCT CCCCTCCCCTTCCCTCTCCCCTCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0054 a0001c0001t0029g0054	1	114	0.0088	230	c.-24 others(247): Show c.-24-2406_-24-2405insGGAGGGGAGAGGGGAGAGGGAAGGGGAG GGGAGAGGGGAGAGGGAAGGGGAGGGGAGAGGGGAGAGGGAAGGGGAGGG GAGAGGGGAGAGGGAAGGGGAGGGGAGAGGGGAGAGGGAAGGGGAGGGGA GAGGGGAGAGGGAAGGGGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGGG AAGGGGAGGGGAGAGGGGAGAGGGAAGGGGAGGGGAGAGGGGAGAGGGAA GG	P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	1/1			chrX	TogoVar
PABIR2_chrX_134764566_134802205	134788466	G G	GTGTAATA others(223): Show GTGTAATATATACACGTTATATATGTGTAATATATACACGTTATATATGT GTAATATATACACGTTATATATGTGTAATATATACACGTTATATATGTGT AATATATACACGTTATATATGTGTAATATATACACGTTATATATGTGTAA TATATACACGTTATATATGTGTAATATATACACGTTATATATGTTATATA TGTTATATATGTGTTATATATACGTTATATA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	217	0.0046	230	c.435 others(245): Show c.435+263_435+264insTATATAACGTATATATAACACATATATAAC ATATATAACATATATAACGTGTATATATTACACATATATAACGTGTATAT ATTACACATATATAACGTGTATATATTACACATATATAACGTGTATATAT TACACATATATAACGTGTATATATTACACATATATAACGTGTATATATTA CACATATATAACGTGTATATATTACACATATATAACGTGTATATATTACA	PABIR2	ENSG00000156504.17	transcript	ENST00000343004.10	protein_coding	6/9			chrX	TogoVar
PALD1_chr10_70473767_70573450	70554954	C C	CCCCTCCC others(223): Show CCCCTCCCCTCCCCCTCCTCCCCCTCCCCTCCCCCTCCTCCCCCTCCCCT CCCCCTCCTCCCCTTCCTCCCCTCCCCCCTCCTCCCCTTCCTCCCCTCCC CCCTCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCACTCCC CTTCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCACTCCCCTTCCCCT CCCCTCCCCTCCTCCCCTCCCCTCCCCTCCT	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0012 a0002c0002t0012	a0002c0002t0012g0225 a0002c0002t0012g0225	1	308	0.0033	230	c.226 others(249): Show c.2262+7511_2262+7512insTCCCCTCCCCCTCCTCCCCCTCCCCT CCCCCTCCTCCCCCTCCCCTCCCCCTCCTCCCCTTCCTCCCCTCCCCCCT CCTCCCCTTCCTCCCCTCCCCCCTCCTCCCCCCTCCCCTCCCCCTCCCCT CCCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCACTCCCCTTCCCCTC CCCTCCACTCCCCTTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCC TCCC	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(223): Show CCCCTCCCCTCCCCCTCCTCCCCCTCCCCTCCCCCTCCTCCCCCTCCCCT CCCCCTCCTCCCCTTCCTCCCCTCCCCCTCCTCCCCTTCCTCCCCTCCCC CCCTCCTCCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCACTCCC CTTCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCACTCCCCTTCCCCT CCCCTCCCCTCCTCCCCTCCCCTCCCCTCCT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0048 a0002c0002t0002g0048	1	308	0.0033	230	c.226 others(249): Show c.2262+7511_2262+7512insTCCCCTCCCCCTCCTCCCCCTCCCCT CCCCCTCCTCCCCCTCCCCTCCCCCTCCTCCCCTTCCTCCCCTCCCCCTC CTCCCCTTCCTCCCCTCCCCCCCTCCTCCCCCCCTCCCCTCCCCCTCCCC TCCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCACTCCCCTTCCCCTC CCCTCCACTCCCCTTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCC TCCC	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(223): Show CCCCTCCCCTCCCCCTCCTCCCCCTCCTCCCCTCCCCCTCCTCCCCCTCC TCCCCTCCCCCTCCTCCCCCCTCCTCCCCTCCCCCTCCTCCCCCCTCTCC CCCTCCCCTCCCCCCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCACTCCC CTTCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCACTCCCCTTCCCCT CCCCTCCCCTCCTCCCCTCCCCTCCCCTCCT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0004 a0007c0010t0004	a0007c0010t0004g0100 a0007c0010t0004g0100	1	308	0.0033	230	c.226 others(249): Show c.2262+7511_2262+7512insTCCCCTCCCCCTCCTCCCCCTCCTCC CCTCCCCCTCCTCCCCCTCCTCCCCTCCCCCTCCTCCCCCCTCCTCCCCT CCCCCTCCTCCCCCCTCTCCCCCTCCCCTCCCCCCCCCCTCCCCCTCCCC TCCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCACTCCCCTTCCCCTC CCCTCCACTCCCCTTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCC TCCC	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(223): Show CCCCTCCCCTCCCCCTCCTCCCCCTCCTCCCCTCCCCCTCCTCCCCCTCC TCCCCTCCCCCTCCTCCCCCCTCCTCCCCTCCCCCTCCTCCCCCCTCTCC CCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCACTCCC CTTCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCACTCCCCTTCCCCT CCCCTCCCCTCCTCCCCTCCCCTCCCCTCCT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02258.hp1 HG01255.hp1 HG02258.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0004 a0007c0010t0004	a0007c0010t0004g0101 a0007c0010t0004g0102 a0007c0010t0004g0101 a0007c0010t0004g0102	2	308	0.0065	230	c.226 others(249): Show c.2262+7511_2262+7512insTCCCCTCCCCCTCCTCCCCCTCCTCC CCTCCCCCTCCTCCCCCTCCTCCCCTCCCCCTCCTCCCCCCTCCTCCCCT CCCCCTCCTCCCCCCTCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCACTCCCCTTCCCCTC CCCTCCACTCCCCTTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCC TCCC	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(223): Show CCCTTCCCCTCCCCCTCCTCCCCCTCCCCTCCCCCTCCTCCCCCTCCCCT CCCCCTCCTCCCCTTCCTCCCCTCCCCCTCCTCCCCTTCCTCCCCTCCCC CCCTCCTCCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCACTCCC CTTCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCACTCCCCTTCCCCT CCCCTCCCCTCCTCCCCTCCCCTCCCCTCCT	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0005 a0002c0002t0004g0005	1	308	0.0033	230	c.226 others(249): Show c.2262+7510_2262+7511insTTCCCCTCCCCCTCCTCCCCCTCCCC TCCCCCTCCTCCCCCTCCCCTCCCCCTCCTCCCCTTCCTCCCCTCCCCCT CCTCCCCTTCCTCCCCTCCCCCCCTCCTCCCCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCACTCCCCTTCCCCT CCCCTCCACTCCCCTTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTC CTCC	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
PALD1_chr10_70473767_70573450	70554970	T T	TCCTCCCC others(223): Show TCCTCCCCCTCCCCTCCCCCTCCTCCCCTTCCTCCCCTCCCCCTCCTCTC CTTCCTCCCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCC CCTCCCCCTCCCCTCCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCAC TCCCCTTCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCCCTCCTCCCC TCCCCTCCCCTCCTCCCCTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0043 a0003c0003t0003g0043	1	308	0.0033	230	c.226 others(249): Show c.2262+7531_2262+7532insCTCCCCTCCCCCTCCTCCCCTTCCTC CCCTCCCCCTCCTCTCCTTCCTCCCCTCCCCCCTCCTCCCCCCTCCTCCC CCCTCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCACTCCCC TTCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCACTCCCCTTCCCCTC CCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCCCT CCCC	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
PCBP3_chr21_45638725_45947450	45909792	C C	CCCCCCCC others(223): Show CCCCCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCGCCCACTGCCC AGATACGGACCCCCCCCCCACCCACTGCCCAGATACGGACCCGGCCCACC CACTGCCCAGATACGGACCCCCCCCCACCCACTGCCCAGATACGGACCCC CCCCGCCCACTGCCCAGATACGGACCCGGCCCACCCACTGCCCAGATACG GACCCCCCCCCGCCCACTGCCCAGATACGGA	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0228 a0001c0001t0002g0228	1	292	0.0034	230	c.471 others(245): Show c.471+314_471+315insCCACCCACTGCCCAGATACGGACCCCCCCC GCCCACTGCCCAGATACGGACCCCCCCCCCACCCACTGCCCAGATACGGA CCCGGCCCACCCACTGCCCAGATACGGACCCCCCCCCACCCACTGCCCAG ATACGGACCCCCCCCGCCCACTGCCCAGATACGGACCCGGCCCACCCACT GCCCAGATACGGACCCCCCCCCGCCCACTGCCCAGATACGGACCCCCCCC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCSK5_chr9_75885673_76367975	76063964	C C	CCCCCCCA others(223): Show CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCCGAC ACCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCAGAGGGGCTCCT CTCTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAAG GGGGGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCGGGGGGCCGACA	intron_variant intron_variant	MODIFIER	HG03041.hp1 NA18522.hp2 HG03041.hp1 NA18522.hp2	a0006 a0027 a0006 a0027	a0006c0014 a0027c0079 a0006c0014 a0027c0079	a0006c0014t0021 a0027c0079t0041 a0006c0014t0021 a0027c0079t0041	a0006c0014t0021g0117 a0027c0079t0041g0073 a0006c0014t0021g0117 a0027c0079t0041g0073	2	166	0.0121	230	c.633 others(247): Show c.633-3986_633-3985insCACCTCCCTCCCGGACGGGGCGGCTGGT CGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGTGGCTGGCC GGGCAGAGGGGCTCCTCTCTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGAAGGGGGGGCTGGCCGGGCAGGGGGGCTGACCCCCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACACCC CC	PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	5/37		INFO_REALIGN_3_PRIME	chr9	TogoVar
PEX10_chr1_2398974_2417564	2401360	C C	CCTCCTCC others(223): Show CCTCCTCCCTCCCTCCTCCTCCCTCCTCCTCCCTCCTCCTCCCTCCTTCC CTCCCTCCTCCTCCCTCCTTCCTCCCTCCTCCTCCCTCCTCCTCCCTCCT CCCTTCTTCCTCCCTCCTCCCTTCCTCCTCCTCCCTCCTCCCCCTCCTCC CTCCCCCTCCTCCCTCCCTCCTCCCCCCTCCTCCCTCCTTCCTCCCTCCT CCTCCCTCCCTCCTCCTTCCTCCCTCCTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	358	0.0028	230	c.44 others(241): Show c.4405_*4406insAGGAGGAGGGAGGAAGGAGGAGGGAGGGAGGAGG AGGGAGGAAGGAGGGAGGAGGGGGGAGGAGGGAGGGAGGAGGGGGAGGGA GGAGGGGGAGGAGGGAGGAGGAGGAAGGGAGGAGGGAGGAAGAAGGGAGG AGGGAGGAGGAGGGAGGAGGAGGGAGGAAGGAGGGAGGAGGAGGGAGGGA AGGAGGGAGGAGGAGGGAGGAGGAGGGAGGAGGAGGGAGGGAGGAG	PEX10	ENSG00000157911.11	transcript	ENST00000447513.7	protein_coding		2613		chr1	TogoVar
PHKA1_chrX_72573814_72719306	72681736	C C	CCGCCCAG others(223): Show CCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGGGGTCGGCCCCCCT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	237	0.0042	230	c.537 others(247): Show c.537+2761_537+2762insAGGGGGGCCGACCCCCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCTGGCTGGG CG	PHKA1	ENSG00000067177.15	transcript	ENST00000373542.9	protein_coding	5/31			chrX	TogoVar
PHKA1_chrX_72573814_72719306	72681898	A A	AGGGGGGG others(223): Show AGGGGGGGGGTCAGCCCCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTG AGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCTGC CCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCC CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02602.hp1 HG01261.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0199 a0001c0001t0001g0188 a0001c0001t0001g0199	2	237	0.0084	230	c.537 others(247): Show c.537+2599_537+2600insCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCAGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACAGGGCGGCTGGCTGGGCGGGGGGGCTGACCCCCCC CC	PHKA1	ENSG00000067177.15	transcript	ENST00000373542.9	protein_coding	5/31			chrX	TogoVar
PHRF1_chr11_571470_617222	585208	T T	TGCCCTTT others(223): Show TGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCT CTTTTCAGCTTGAGGTAGTAGCTCTTTCCAGCTTGAGGTAGTAGCCCTTT CCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAG CATGAGGTAGTAGCTCTTTCCAGCATGAGGTAGTAGCCCTTTCCAGCTTG AGGTAGTAGCCCTTTCCAGCTTGAGGTAGTA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02818.hp2 HG03209.hp1 HG02630.hp1 HG02818.hp2 HG03209.hp1	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0003 a0009c0012t0003	a0009c0012t0003g0067 a0009c0012t0003g0082 a0009c0012t0003g0176 a0009c0012t0003g0067 a0009c0012t0003g0082 a0009c0012t0003g0176	3	279	0.0108	230	c.215 others(247): Show c.215-2003_215-2002insTCTTTTCAGCTTGAGGTAGTAGCTCTTT CCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAG CTTGAGGTAGTAGCCCTTTCCAGCATGAGGTAGTAGCTCTTTCCAGCATG AGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGT AGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTA GC	PHRF1	ENSG00000070047.13	transcript	ENST00000264555.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr11	TogoVar
PIK3CD_chr1_9646731_9734114	9680448	A A	AAAAAAAA others(223): Show AAAAAAAAAAAATTAAAACATTTTCATCACTCCAAAAAGAGATTTCACAC CATTAGCAGTTACTCGTTTTTAGTATATTCACAGTTATGCAACCATCAGC ATCATAAATTTTAAGCTGTGCATGGTGGCTCATGTCTGTAATCCAAGCAC TTTGGGAGGCTGAGGCTGAACTCACTTGAGCCTAGAAGTTCAAGACCAGC CTGGGCAATATAGTGAGACCCTGTCTCTATT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0209 a0001c0002t0010g0209	1	318	0.0031	230	c.-13 others(251): Show c.-137-10955_-137-10954insGTTTTTAGTATATTCACAGTTATG CAACCATCAGCATCATAAATTTTAAGCTGTGCATGGTGGCTCATGTCTGT AATCCAAGCACTTTGGGAGGCTGAGGCTGAACTCACTTGAGCCTAGAAGT TCAAGACCAGCCTGGGCAATATAGTGAGACCCTGTCTCTATTAAAAAAAA AAATTAAAACATTTTCATCACTCCAAAAAGAGATTTCACACCATTAGCAG TTACTC	PIK3CD	ENSG00000171608.18	transcript	ENST00000377346.9	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr1	TogoVar
PJA2_chr5_109329722_109414974	109340619	C C	CCTCTCCC others(223): Show CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01433.hp2 HG00642.hp1 HG01433.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0079 a0003c0003t0002g0286 a0003c0003t0002g0079 a0003c0003t0002g0286	2	346	0.0058	230	c.200 others(249): Show c.2002-3264_2002-3263insAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAG	PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	9/9			chr5	TogoVar
PJA2_chr5_109329722_109414974	109353862	A A	ATCTAGAG others(223): Show ATCTAGAGATATCTATAGATTAGATAGATATCTAGAGATATCTATAGATT AGATATCTATGATATCTAGAGATATCTATAGATTAGATATCTATATCTAG AGATGTCTATAGATTAGATATCTATGATATCTAGAGATGTCTATAGATTA GATATCTATGATATCTAGAGATGTCTATAGATTAGATATCTATGATGTCT AGAGATATCTATAGATTAGATATCTATGATG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0285 a0001c0001t0022g0285	1	346	0.0029	230	c.176 others(249): Show c.1764+2052_1764+2053insCATCATAGATATCTAATCTATAGATA TCTCTAGACATCATAGATATCTAATCTATAGACATCTCTAGATATCATAG ATATCTAATCTATAGACATCTCTAGATATCATAGATATCTAATCTATAGA CATCTCTAGATATAGATATCTAATCTATAGATATCTCTAGATATCATAGA TATCTAATCTATAGATATCTCTAGATATCTATCTAATCTATAGATATCTC TAGA	PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	7/9			chr5	TogoVar
PKP3_chr11_389209_409908	401629	G G	GACCCGCT others(223): Show GACCCGCTCACCCCCGGCCCCGCTCACCCCGGCCCCGCTCACACCCGCCC CGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCT CACACCCGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACA CCCGGCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCC GCCCCGCTCACCCCCGGCCCCGCTCACACCC	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0139 a0001c0002t0001g0139	1	216	0.0046	230	c.173 others(247): Show c.1737+924_1737+925insACCCGCTCACCCCCGGCCCCGCTCACCC CGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACACCCGCC CCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGC TCACACCCGGCCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCCGCTC ACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACAC CC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12			chr11	TogoVar
PLA2G4A_chr1_186823949_186993981	186870595	G G	GGAGGTTC others(223): Show GGAGGTTCTGCCTTCTTCAAATGTGGTTATGTTTGTCTAGATCTTTGAAT GATAACATTTCAAACAGTTCTCTGATGCTATCTGTCAGATTAGCATTTTA CCTGGGCCTTAAATTAGCCAAAGTGACAAAGGGGGCCTTTGGTGACATGC GTAAGAGTGCTCTTATTTTCTTTGCTGTTAAACGTATAATTATGGTTCAG CCTTTAATTACTTGAGTTCCTTGACAAATCA	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	310	0.0032	230	c.115 others(245): Show c.115+238_115+239insTCTTATTTTCTTTGCTGTTAAACGTATAAT TATGGTTCAGCCTTTAATTACTTGAGTTCCTTGACAAATCAGAGGTTCTG CCTTCTTCAAATGTGGTTATGTTTGTCTAGATCTTTGAATGATAACATTT CAAACAGTTCTCTGATGCTATCTGTCAGATTAGCATTTTACCTGGGCCTT AAATTAGCCAAAGTGACAAAGGGGGCCTTTGGTGACATGCGTAAGAGTGC	PLA2G4A	ENSG00000116711.10	transcript	ENST00000367466.4	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM15_chr21_41793225_41884344	41845086	C C	CCCCCCTC others(223): Show CCCCCCTCACAGGGACACACACACACAGCCCCTCCCCCCCTCACAGGGAC ACACACACACAGCCCCTCCCCCCTCACAGGGACACACACAGCCCCTCCCC CCTCACAGGGACACACAGCCCCTCCCCCCTCACAGGGACACACACAGCCC CTCCCCCCTCGCAGGGACACACAGCCCCTCCCCCTCACAGGGACACACAG CCCCTCCCCCTCACAGGGACACACAGCCCCT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0007 a0001c0005t0007	a0001c0005t0007g0173 a0001c0005t0007g0173	1	406	0.0025	230	c.640 others(247): Show c.640+2003_640+2004insAGGGGCTGTGTGTCCCTGTGAGGGGGAG GGGCTGTGTGTCCCTGTGAGGGGGAGGGGCTGTGTGTCCCTGCGAGGGGG GAGGGGCTGTGTGTGTCCCTGTGAGGGGGGAGGGGCTGTGTGTCCCTGTG AGGGGGGAGGGGCTGTGTGTGTCCCTGTGAGGGGGGAGGGGCTGTGTGTG TGTGTCCCTGTGAGGGGGGGAGGGGCTGTGTGTGTGTGTCCCTGTGAGGG GG	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	6/23			chr21	TogoVar
PRKCB_chr16_23830983_24225611	23981838	C C	CTTCCCCT others(223): Show CTTCCCCTTCCCTTCCCTTTCCCTTCCCCTTCACTTTCCCTTCCCCTTCC CTTCCCTTTCCCTTCCTTTTCCCTTCCACTTCCCCTTTCCCTTCCACTTC CCTTTCCCTTCACCTTCCCCTTCCCTTTCCCTTCCCCTTCCCTTCCCTTC CCCTTCCCTTTCCCTTCCCCTTCTCTTTCCCTTCCCTTTCCCTTCCCTTT CCTTTTCCCTTCCCTTCCCTTTCCCTTCCTT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02109.hp2 HG02698.hp2 others(1): Show HG01496.hp2 HG02109.hp2 HG02698.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0007 a0001c0001t0014 a0001c0001t0022 others(1): Show a0001c0001t0007 a0001c0001t0014 a0001c0001t0022 a0001c0009t0067	a0001c0001t0007g0005 a0001c0001t0014g0120 a0001c0001t0022g0126 others(1): Show a0001c0001t0007g0005 a0001c0001t0014g0120 a0001c0001t0022g0126 a0001c0009t0067g0012	4	148	0.0270	230	c.206 others(247): Show c.206-6665_206-6664insCTTCCCTTCCCTTTCCCTTCCCCTTCAC TTTCCCTTCCCCTTCCCTTCCCTTTCCCTTCCTTTTCCCTTCCACTTCCC CTTTCCCTTCCACTTCCCTTTCCCTTCACCTTCCCCTTCCCTTTCCCTTC CCCTTCCCTTCCCTTCCCCTTCCCTTTCCCTTCCCCTTCTCTTTCCCTTC CCTTTCCCTTCCCTTTCCTTTTCCCTTCCCTTCCCTTTCCCTTCCTTTTC CC	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCB_chr16_23830983_24225611	23982104	T T	TCCCTTTC others(223): Show TCCCTTTCCCTTCCCTTCCCTTTCCCTTCCCCTCCCCTTCCCTTTCCCTT ACCCTTCCCTTTCCCTTCCCCTTCTCTTTCCTTTCCCTTTCCCTTTCCAT TTCCCTTCCCTTCCCTTCCCCTTCCCTTCCCTTTCCCTTCCCCTTCACTT TCCCTTCCCCTTCCCTTCCCTTTCCCTTCCTTTTCCCTTCCACTTCCCCT TTCCCTTCCACTTCCCTTTCCCTTCACCTTC	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0015 a0001c0005t0015	a0001c0005t0015g0038 a0001c0005t0015g0038	1	148	0.0068	230	c.206 others(247): Show c.206-6399_206-6398insTCCCTTCCCTTCCCTTTCCCTTCCCCTC CCCTTCCCTTTCCCTTACCCTTCCCTTTCCCTTCCCCTTCTCTTTCCTTT CCCTTTCCCTTTCCATTTCCCTTCCCTTCCCTTCCCCTTCCCTTCCCTTT CCCTTCCCCTTCACTTTCCCTTCCCCTTCCCTTCCCTTTCCCTTCCTTTT CCCTTCCACTTCCCCTTTCCCTTCCACTTCCCTTTCCCTTCACCTTCCCC TT	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
PTPN4_chr2_119754922_119989899	119844106	A A	ACCCCCCC others(223): Show ACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCC GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGGTGGCCGGGCAGAGGCGCCCCTCACCTCCCA GACGGGGCGGCTGGCCGGGGCGGAGGGCTCATCCCCCCACCTCCCTCCCA GACGGGGCGGCTGGCCAGGCGGGGGGCTGAC	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0154 a0001c0001t0002g0154	1	252	0.0040	230	c.139 others(249): Show c.139-18423_139-18422insCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGGTGGCCGGGCAGAGG CGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGGCGGAGGGCTCATCC CCCCACCTCCCTCCCAGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCC CCCC	PTPN4	ENSG00000088179.9	transcript	ENST00000263708.7	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
PTPRG_chr3_61556571_62302609	61671741	T T	TGGACGGG others(223): Show TGGACGGGGCGGCTGGCTGGGTGGGGGGCTGACCCCCCCCACCTCCCTCC CGGATGGGGCGGCTGGCCGGGCGGCGGGGGCTGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGCGGGGGCTGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGG GGCGGCCGGGCAGAGGTGCCCCTCACCTCCC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0071 a0003c0004t0002g0071	1	94	0.0106	230	c.86- others(247): Show c.86-77121_86-77120insTGGGTGGGGGGCTGACCCCCCCCACCTC CCTCCCGGATGGGGCGGCTGGCCGGGCGGCGGGGGCTGACCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGCGGCGGGGGCTGACCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCGGCCGGGCAGAGGTGCCCCTCACCTCCCGGACGGGGCGGCTG GC	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
PTPRG_chr3_61556571_62302609	61671742	G G	GGACGGGG others(223): Show GGACGGGGCGGCTGGCTGGGTGGGGGGCTGACCCCCCCACCTCCCTCCCG GATGGGGCGGCTGGCCGGGCGGCGGGGGCTGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGCGGGGGCTGACCCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00738.hp1 HG01243.hp2 others(13): Show HG00280.hp1 HG00738.hp1 HG01243.hp2 HG02027.hp2 HG02559.hp1 HG02647.hp1 HG02965.hp1 HG02976.hp2 HG03041.hp2 HG03130.hp2 HG03225.hp2 HG03453.hp1 HG03831.hp2 NA18998.hp1 NA19030.hp1 NA19240.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0009	a0001c0001 a0001c0005 a0001c0008 others(5): Show a0001c0001 a0001c0005 a0001c0008 a0002c0002 a0002c0003 a0003c0013 a0006c0007 a0009c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0010 a0001c0005t0001 a0001c0008t0005 a0002c0002t0001 a0002c0002t0002 a0002c0003t0002 a0003c0013t0001 a0006c0007t0004 a0009c0018t0006	a0001c0001t0001g0044 a0001c0001t0001g0074 a0001c0001t0001g0082 others(13): Show a0001c0001t0001g0044 a0001c0001t0001g0074 a0001c0001t0001g0082 a0001c0001t0002g0063 a0001c0001t0002g0065 a0001c0001t0004g0028 a0001c0001t0007g0083 a0001c0001t0010g0087 a0001c0005t0001g0040 a0001c0008t0005g0030 a0002c0002t0001g0041 a0002c0002t0002g0021 a0002c0003t0002g0075 a0003c0013t0001g0004 a0006c0007t0004g0031 a0009c0018t0006g0039	16	94	0.1702	230	c.86- others(247): Show c.86-77121_86-77120insTGGGTGGGGGGCTGACCCCCCCACCTCC CTCCCGGATGGGGCGGCTGGCCGGGCGGCGGGGGCTGACCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCGGCGGGGGCTGACCCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTG GC	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
PTPRG_chr3_61556571_62302609	61671742	G G	GGACGGGG others(223): Show GGACGGGGCGGCTGGCTGGGTGGGGGGCTGACCCCCCCACCTCCCTCCCG GATGGGGCGGCTGGCCGGGCGGCGGGGGCTGACCCCCCCACCTCCCTCCT GGACGGGGCGGCTGGCCGGGCGGCGGGGGCTGACCCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCA	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG02109.hp1 HG02109.hp2 others(4): Show HG01169.hp2 HG02109.hp1 HG02109.hp2 HG02258.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp2	a0001 a0006 a0007 others(1): Show a0001 a0006 a0007 a0008	a0001c0001 a0001c0014 a0006c0007 others(2): Show a0001c0001 a0001c0014 a0006c0007 a0007c0009 a0008c0017	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0014t0015 a0006c0007t0004 a0007c0009t0002 a0008c0017t0002	a0001c0001t0001g0009 a0001c0001t0004g0026 a0001c0001t0005g0025 others(4): Show a0001c0001t0001g0009 a0001c0001t0004g0026 a0001c0001t0005g0025 a0001c0014t0015g0005 a0006c0007t0004g0060 a0007c0009t0002g0032 a0008c0017t0002g0013	7	94	0.0745	230	c.86- others(247): Show c.86-77121_86-77120insTGGGTGGGGGGCTGACCCCCCCACCTCC CTCCCGGATGGGGCGGCTGGCCGGGCGGCGGGGGCTGACCCCCCCACCTC CCTCCTGGACGGGGCGGCTGGCCGGGCGGCGGGGGCTGACCCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTG GC	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
PTPRG_chr3_61556571_62302609	61885680	T T	TCCTCTCC others(223): Show TCCTCTCCTCTCCTCTCCTCTCCCCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCACTCCTCCCCTCCCCTCCCCTCCCCTCTCCTCTCCTCTCCTC TGCTCCCCTCTCCTCCCCCCCCCTCCCCTCCCCTCCCCTCCTGTCCCCCT CCCCTCTCCCCTCCCCCTCCCCCTCCCCTCACCCTCCCTCCTCCCCCCTC CCCTCCCCCTCCCTCCTCCCTCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	94	0.0106	230	c.191 others(251): Show c.191-103924_191-103923insCCCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCACTCCTCCCCTCCCCTCCCCTCCCCTCTCCTCTCCTCT CCTCTGCTCCCCTCTCCTCCCCCCCCCTCCCCTCCCCTCCCCTCCTGTCC CCCTCCCCTCTCCCCTCCCCCTCCCCCTCCCCTCACCCTCCCTCCTCCCC CCTCCCCTCCCCCTCCCTCCTCCCTCCTCCCCTCCCCTCTCCTCTCCTCT CCTCTC	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
PTPRT_chr20_42067756_43194906	42993506	A A	ATTTGTGT others(223): Show ATTTGTGTATATATATACATATATGTGTGTGTATATATACATATATGTGT GTGTGTATATATACACATATGTGTGTGTATATATACACATATATGTGTGT GTATATATACACATATATGTGTGTGTATATATACATATATGTATATATAC ACACACATATATGTATATATACACACACATATATGTGTATATATACACAC ACATATATGTGTATATATACACACATATATG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0005 a0001c0008t0005	a0001c0008t0005g0037 a0001c0008t0005g0037	1	62	0.0161	230	c.89- others(249): Show c.89-107575_89-107574insCATATATGTGTGTATATATACACATA TATGTGTGTGTATATATACACATATATGTGTGTGTATATATACATATATG TGTGTGTATATATACATATATGTATATATACACACACATATATGTGTATA TATACACACACATATATGTGTATATATACACACACATATGTGTATATATA CACACACACATATATGTATATATACACACACATATATGTATATATATACA CAAA	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	1/30			chr20	TogoVar
PYM1_chr12_55896413_55932894	55905863	A A	ATATATAT others(223): Show ATATATATCTATTAGATATATATATTATTATATATATCTATTAGATATAT ATATTATTATATATATCTATTAGATATATATATTATTATATATATCTAAT AGATATATATATTATTATATATATCTAATAGATATATATATTATTATATA TATCTAATAGATATATATATTATTATATATATCTAATAGATATATATATT ATTATATATATCTAATAGATATATATATTAT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20300.hp1 NA20129.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0230 a0001c0001t0002g0254 a0001c0001t0002g0230 a0001c0001t0002g0254	2	344	0.0058	230	c.38- others(245): Show c.38-2384_38-2383insATAATATATATATCTATTAGATATATATAA TAATATATATATCTATTAGATATATATAATAATATATATATCTATTAGAT ATATATAATAATATATATATCTATTAGATATATATAATAATATATATATC TATTAGATATATATAATAATATATATATCTAATAGATATATATAATAATA TATATATCTAATAGATATATATAATAATATATATATCTAATAGATATATA	PYM1	ENSG00000170473.17	transcript	ENST00000408946.7	protein_coding	1/2			chr12	TogoVar
PYM1_chr12_55896413_55932894	55905863	A A	ATATATAT others(223): Show ATATATATCTATTAGATATATATATTATTATATATATCTATTAGATATAT ATATTATTATATATATCTATTAGATATATATATTATTATATATATCTATT AGATATATATATTATTATATATATCTAATAGATATATATATTATTATATA TATCTAATAGATATATATATTATTATATATATCTAATAGATATATATATT ATTATATATATCTAATAGATATATATATTAT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0233 a0001c0001t0002g0233	1	344	0.0029	230	c.38- others(245): Show c.38-2384_38-2383insATAATATATATATCTATTAGATATATATAA TAATATATATATCTATTAGATATATATAATAATATATATATCTATTAGAT ATATATAATAATATATATATCTATTAGATATATATAATAATATATATATC TAATAGATATATATAATAATATATATATCTAATAGATATATATAATAATA TATATATCTAATAGATATATATAATAATATATATATCTAATAGATATATA	PYM1	ENSG00000170473.17	transcript	ENST00000408946.7	protein_coding	1/2			chr12	TogoVar
RALGAPA2_chr20_20384530_20717644	20458776	A A	ATATATAT others(223): Show ATATATATATAGACCTATATATATATAGACCTATATATATATAGACCTAT ATATATATAGACCTATATATATATAGACCTATATATATATAGACCTATAT ATATATAGACCTATATATATATAGACCTATATATATAGACCTATATATAT ATAGACCTATATATATAGACCTATATATATATAGACCTATATATATAGAC CTATATATATATAGACCTATATATATAGACC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0120 a0001c0001t0048g0120	1	122	0.0082	230	c.549 others(251): Show c.5495+14052_5495+14053insGGTCTATATATATAGGTCTATATA TATATAGGTCTATATATATAGGTCTATATATATATAGGTCTATATATATA GGTCTATATATATATAGGTCTATATATATAGGTCTATATATATATAGGTC TATATATATATAGGTCTATATATATATAGGTCTATATATATATAGGTCTA TATATATATAGGTCTATATATATATAGGTCTATATATATATAGGTCTATA TATATA	RALGAPA2	ENSG00000188559.16	transcript	ENST00000202677.12	protein_coding	37/39			chr20	TogoVar
RASA3_chr13_113972783_114137623	114044430	C C	CGCCCCGC others(223): Show CGCCCCGCCTCACTCGCTGAGCTCCCCCCCGCCTCACTCGCTGAGCTCCC CCCCCGCCTCACTCGCTGAGCTCCCCCCCCGCCTCACTCGCTGAGCACCC CCCCGCCGCCTCACTCGCTGAGCCCCCCCCCCGCCCCGCCTCACTCGCTG AGCTCCCCCCCCCGCCTCACTCGCTGAGCTCCCCCCCCGCCTCACTCGCT GAGCACCCCCCCGCCCCGCCTCACTCGCTGA	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	67	0.0149	230	c.278 others(247): Show c.278-3337_278-3336insTCAGCGAGTGAGGCGGGGCGGGGGGGTG CTCAGCGAGTGAGGCGGGGGGGGAGCTCAGCGAGTGAGGCGGGGGGGGGA GCTCAGCGAGTGAGGCGGGGCGGGGGGGGGGCTCAGCGAGTGAGGCGGCG GGGGGGTGCTCAGCGAGTGAGGCGGGGGGGGAGCTCAGCGAGTGAGGCGG GGGGGGAGCTCAGCGAGTGAGGCGGGGGGGAGCTCAGCGAGTGAGGCGGG GC	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	3/23			chr13	TogoVar

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